diff --git a/.gitignore b/.gitignore new file mode 100644 index 0000000..c60d2bf --- /dev/null +++ b/.gitignore @@ -0,0 +1 @@ +omim*_key.txt diff --git a/README.md b/README.md index 4687e93..8ad5cee 100644 --- a/README.md +++ b/README.md @@ -1,12 +1,53 @@ # omim -Repository for OMIM data. +Repository for downloading and converting OMIM data into an easier-to-use tab-delimitted table. -parse_omim.py downloads data from the OMIM API via HTTP request and writes it to a tsv file. The script uses a hard-coded API key which has some expiration date. New keys can be requested from the OMIM website here https://omim.org/api/. +There are 2 main scripts - one based on the OMIM api and one based on the OMIM downloadable files: +``` +python src/parse_omim_from_downloads.py -c src/omim_downloads_key.txt -The script cherry-picks a few fields to include in the output file. These fields come from the schema described here https://omim.org/help/api, specifically the "Entry Data" section. +python src/parse_omim_from_api.py -c src/omim_api_key.txt --hgnc data/gene_symbol_thesaurus.txt --use --output use_omim_table.txt +``` +Each produces it's own variant of the tsv table. The details below should help decide which is better for your use-case. -### e.g. python src/parse_omim.py --hgnc data/gene_symbol_thesaurus.txt --use --output data/use_omim_table.txt + +parse_omim_from_downloads.py +---------------------------- + +This script downloads and parses the latest genemap2.txt file which contains OMIM gene/phenotype relatinoships. +It requires an API key (either on the command line or through a config file). This key can be requested from the OMIM website here https://omim.org/downloads/. + +It outputs the 'omim.tsv' which contains one row for each gene/phenotype relationship and has columns: + mim_number + approved_symbol + gene_name + ensembl_gene_id + gene_symbols + comments + inheritance + phenotype_mim_number + phenotype_description + phenotype_map_method + + +parse_omim_from_api.py +---------------------- + +This script downloads data from the OMIM API via HTTP request and writes it to a tsv file. +It requires an API key (either on the command line or through a config file). This key can be requested from the OMIM website here https://omim.org/api/. + +It outputs a table which contains one row for each gene/phenotype relationship, and has columns: + genes + hgnc_synonyms + hgnc_genes + phenotype + phenotypeInheritance + geneMimNumber + phenotypeMimNumber + chromosome + comments + +These fields come from the schema described here https://omim.org/help/api, specifically the "Entry Data" section. gene_symbol_thesaurus.txt is a file which maps gene aliases to their corresponding HGNC symbol. Aliases will map to at most one HGNC symbol; however, multiple aliases can map to the same HGNC symbol. diff --git a/omim.tsv b/omim.tsv new file mode 100644 index 0000000..e882c7c --- /dev/null +++ b/omim.tsv @@ -0,0 +1,7184 @@ +mim_number approved_symbol gene_name ensembl_gene_id gene_symbols comments inheritance phenotype_mim_number phenotype_description phenotype_map_method +612367 Alkaline phosphatase, plasma level of, QTL 2 ALPQTL2 linkage with rs1780324 612367 Alkaline phosphatase, plasma level of, QTL 2 2 +606788 Anorexia nervosa, susceptibility to, 1 ANON1 606788 Anorexia nervosa, susceptibility to, 1 2 +605462 Basal cell carcinoma, susceptibility to, 1 BCC1 associated with rs7538876 605462 Basal cell carcinoma, susceptibility to, 1 2 +606928 Bone mineral density QTL 3 BMND3 ?another locus at 3p21 606928 Bone mineral density QTL 3 2 +155600 CMM Cutaneous malignant melanoma/dysplastic nevus CMM, MLM, DNS some linkage studies negative; see 9p Autosomal dominant 155600 Melanoma, cutaneous malignant, 1 2 +115665 CCV Cataract, congenital, Volkmann type CTRCT8, CCV linked to Rh in Scottish family Autosomal dominant 115665 Cataract 8, multiple types 2 +607872 Chromosome 1p36 deletion syndrome DEL1p36, C1DELp36 contiguous gene deletion syndrome Isolated cases 607872 Chromosome 1p36 deletion syndrome 4 +608995 DYX8 Dyslexia, susceptibility to, 8 DYX8 between D1S552 and D1S1622 Autosomal dominant, Multifactorial 608995 Dyslexia, susceptibility to, 8 2 +605225 IBD7 Inflammatory bowel disease 7 IBD7 associated with rs6426833 605225 Inflammatory bowel disease 7 2 +612596 Multiple sclerosis, susceptibility to, 4 MS4 associated with rs10492972 612596 Multiple sclerosis, susceptibility to, 4 2 +610320 MYP14 Myopia 14 MYP14 between D1S552 and D1S1622 610320 Myopia 14 2 +605606 PSORS7 Psoriasis susceptibility 7 PSORS7 605606 Psoriasis susceptibility 7 2 +607317 SCASI Spinocerebellar ataxia, autosomal recessive 4 SCAR4, SCASI Autosomal recessive 607317 Spinocerebellar ataxia, autosomal recessive 4 2 +147571 ISG15 ISG15 ubiquitin-like modifier ENSG00000187608 ISG15, G1P2, IFI15, IMD38 Autosomal recessive 616126 Immunodeficiency 38 3 +103320 AGRN Agrin ENSG00000188157 AGRN, CMS8 Autosomal recessive 615120 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 3 +600315 TNFRSF4 Tumor necrosis factor receptor superfamily, member 4 ENSG00000186827 TNFRSF4, TXGP1L, OX40, ACT35, IMD16 mutation identified in 1 IMD16 family Autosomal recessive 615593 ?Immunodeficiency 16 3 +615291 B3GALT6 UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 ENSG00000176022 B3GALT6, SEMDJL1, EDSP2 Autosomal recessive 615349 Ehlers-Danlos syndrome, progeroid type, 2 3 +615291 B3GALT6 UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 ENSG00000176022 B3GALT6, SEMDJL1, EDSP2 Autosomal recessive 271640 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 3 +601365 DVL1 Dishevelled 1 (homologous to Drosophila dsh) ENSG00000107404 DVL1, DRS2 Autosomal dominant 616331 Robinow syndrome, autosomal dominant 2 3 +616101 TMEM240 Transmembrane protein 240 ENSG00000205090 TMEM240, C1orf70, SCA21 Autosomal dominant 607454 Spinocerebellar ataxia 21 3 +139380 GNB1 Guanine nucleotide-binding protein, beta polypeptide-1 ENSG00000078369 GNB1, MRD42 613065 Leukemia, acute lymphoblastic, somatic 3 +139380 GNB1 Guanine nucleotide-binding protein, beta polypeptide-1 ENSG00000078369 GNB1, MRD42 Autosomal dominant 616973 Mental retardation, autosomal dominant 42 3 +137163 GABRD Gamma-aminobutyric acid (GABA) A receptor, delta ENSG00000187730 GABRD, GEFSP5, EIG10, EJM7 Autosomal dominant 613060 Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to 3 +137163 GABRD Gamma-aminobutyric acid (GABA) A receptor, delta ENSG00000187730 GABRD, GEFSP5, EIG10, EJM7 Autosomal dominant 613060 Epilepsy, idiopathic generalized, 10 3 +137163 GABRD Gamma-aminobutyric acid (GABA) A receptor, delta ENSG00000187730 GABRD, GEFSP5, EIG10, EJM7 Autosomal dominant 613060 Epilepsy, juvenile myoclonic, susceptibility to 3 +164780 SKI Avian sarcoma viral (v-ski) oncogene homolog ENSG00000157933 SKI, SGS formerly mapped to 1q22-q24 Autosomal dominant 182212 Shprintzen-Goldberg syndrome 3 +607671 DYT13 Dystonia 13, torsion DYT13 Autosomal dominant 607671 Dystonia 13, torsion 2 +606242 Kondoh syndrome (mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism) KONDS linked to rs966321 and rs1441834 Autosomal recessive 606242 Kondoh syndrome 2 +602859 PEX10 Peroxisome biogenesis factor 10 ENSG00000157911 PEX10, NALD, PBD6A, PBD6B Autosomal recessive 614870 Peroxisome biogenesis disorder 6A (Zellweger) 3 +602859 PEX10 Peroxisome biogenesis factor 10 ENSG00000157911 PEX10, NALD, PBD6A, PBD6B Autosomal recessive 614871 Peroxisome biogenesis disorder 6B 3 +605557 PRDM16 PR domain-containing protein 16 ENSG00000142611 PRDM16, MEL1, LVNC8, CMD1LL Autosomal dominant 615373 Cardiomyopathy, dilated, 1LL 3 +605557 PRDM16 PR domain-containing protein 16 ENSG00000142611 PRDM16, MEL1, LVNC8, CMD1LL Autosomal dominant 615373 Left ventricular noncompaction 8 3 +601990 TP73 p53-related protein ENSG00000078900 TP73 imprinted ?Neuroblastoma 1 +615242 SMIM1 Small integral membrane protein 1 ENSG00000235169 SMIM1, VEL Autosomal recessive 615264 Blood group, Vel system 3 +616690 CEP104 Centrosomal protein, 104kD ENSG00000116198 CEP104, GLYBP, KIAA0562, JBTS25 Autosomal recessive 616781 Joubert syndrome 25 3 +614414 DFNB96 Deafness, autosomal recessive 96 DFNB96 between rs3817914 and rs477558 Autosomal recessive 614414 Deafness, autosomal recessive 96 2 +607215 NPHP4 Nephrocystin 4 ENSG00000131697 NPHP4, SLSN4 Autosomal recessive 606966 Nephronophthisis 4 3 +607215 NPHP4 Nephrocystin 4 ENSG00000131697 NPHP4, SLSN4 Autosomal recessive 606996 Senior-Loken syndrome 4 3 +606351 ESPN Espin, mouse, homolog of ENSG00000187017 ESPN Autosomal recessive 609006 Deafness, autosomal recessive 36 3 +606351 ESPN Espin, mouse, homolog of ENSG00000187017 ESPN Deafness, neurosensory, without vestibular involvement, autosomal dominant 3 +611101 PLEKHG5 Pleckstrin homology domain-containing protein, family G, member 5 ENSG00000171680 PLEKHG5, KIAA0720, DSMA4, CMTRIC Autosomal recessive 615376 Charcot-Marie-Tooth disease, recessive intermediate C 3 +611101 PLEKHG5 Pleckstrin homology domain-containing protein, family G, member 5 ENSG00000171680 PLEKHG5, KIAA0720, DSMA4, CMTRIC Autosomal recessive 611067 Spinal muscular atrophy, distal, autosomal recessive, 4 3 +611501 CAMTA1 Calmodulin-binding transcription activator 1 ENSG00000171735 CAMTA1, KIAA0833, CANPMR Autosomal dominant 614756 Cerebellar ataxia, nonprogressive, with mental retardation 3 +600975 GLC3B Glaucoma 3, primary infantile, B GLC3B Autosomal recessive 600975 Glaucoma 3, primary infantile, B 2 +608543 Schizophrenia 12 SCZD12 max lod at D1S1612 Autosomal dominant 181500 Schizophrenia 12 2 +603427 PER3 Period, Drosophila, homolog of, 3 ENSG00000049246 PER3, FASPS3 mutation identified in 1 FASPS3 family Autosomal dominant 616882 ?Advanced sleep phase syndrome, familial, 3 3 +602533 PARK7 Oncogene DJ-1 ENSG00000116288 DJ1, PARK7 Autosomal recessive 606324 Parkinson disease 7, autosomal recessive early-onset 3 +605226 RERE RE repeats-encoding gene ENSG00000142599 RERE, NEDBEH Autosomal dominant 616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 3 +172430 ENO1 Enolase-1, alpha ENSG00000074800 ENO1, PPH, MPB1 Enolase deficiency 1 +138090 H6PD Hexose-6-phosphate dehydrogenase ENSG00000049239 H6PD, GDH, G6PDH, CORTRD1 digenic triallelic mutations with HSD11B1 Autosomal recessive 604931 Cortisone reductase deficiency 1 3 +602839 PIK3CD Phosphatidylinositol 3-kinase, catalytic, 110kD, delta ENSG00000171608 PIK3CD, APDS, IMD14 Autosomal dominant 615513 Immunodeficiency 14 3 +608700 NMNAT1 Nicotinamide nucleotide adenylyltransferase 1 ENSG00000173614 NMNAT1, NMNAT, PNAT1, LCA9 Autosomal recessive 608553 Leber congenital amaurosis 9 3 +605995 KIF1B Kinesin family member 1B ENSG00000054523 KIF1B, CMT2A, CMT2A1, NBLST1 mutation identified in 1 CMT2A1 family Autosomal dominant 118210 ?Charcot-Marie-Tooth disease, type 2A1 3 +605995 KIF1B Kinesin family member 1B ENSG00000054523 KIF1B, CMT2A, CMT2A1, NBLST1 mutation identified in 1 CMT2A1 family Autosomal dominant, Isolated cases 256700 Neuroblastoma, susceptibility to, 1 3 +605995 KIF1B Kinesin family member 1B ENSG00000054523 KIF1B, CMT2A, CMT2A1, NBLST1 mutation identified in 1 CMT2A1 family Autosomal dominant 171300 Pheochromocytoma 3 +601791 PEX14 Peroxisome biogenesis factor 14 ENSG00000142655 PEX14, PBD13A Autosomal recessive 614887 Peroxisome biogenesis disorder 13A (Zellweger) 3 +605078 TARDBP TAR DNA-binding protein ENSG00000120948 TARDBP, TDP43, ALS10 pseudogenes on 2, 6, 8, 13, 20 Autosomal dominant 612069 Amyotrophic lateral sclerosis 10, with or without FTD 3 +605078 TARDBP TAR DNA-binding protein ENSG00000120948 TARDBP, TDP43, ALS10 pseudogenes on 2, 6, 8, 13, 20 Autosomal dominant 612069 Frontotemporal lobar degeneration, TARDBP-related 3 +605102 MASP2 Mannan-binding lectin serine protease 2 ENSG00000009724 MASP2 Autosomal recessive 613791 MASP2 deficiency 3 +601231 MTOR Mechanistic target of rapamycin ENSG00000198793 MTOR, FRAP1, SKS Autosomal dominant 616638 Smith-Kingsmore syndrome 3 +611632 UBIAD1 UbiA prenyltransferase domain-containing protein 1 ENSG00000120942 UBIAD1, TERE1, SCCD Autosomal dominant 121800 Corneal dystrophy, Schnyder type 3 +607093 MTHFR Methylenetetrahydrofolate reductase ENSG00000177000 MTHFR Autosomal recessive 236250 Homocystinuria due to MTHFR deficiency 3 +607093 MTHFR Methylenetetrahydrofolate reductase ENSG00000177000 MTHFR Autosomal recessive 601634 Neural tube defects, susceptibility to 3 +607093 MTHFR Methylenetetrahydrofolate reductase ENSG00000177000 MTHFR Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +607093 MTHFR Methylenetetrahydrofolate reductase ENSG00000177000 MTHFR Autosomal dominant 188050 Thromboembolism, susceptibility to 3 +607093 MTHFR Methylenetetrahydrofolate reductase ENSG00000177000 MTHFR Vascular disease, susceptibility to 3 +108780 NPPA Natriuretic peptide precursor A ENSG00000175206 NPPA, PND, ANP, ATFB6, ATRST2 Autosomal dominant 612201 Atrial fibrillation, familial, 6 3 +108780 NPPA Natriuretic peptide precursor A ENSG00000175206 NPPA, PND, ANP, ATFB6, ATRST2 Autosomal recessive 615745 Atrial standstill 2 3 +153454 PLOD1 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) ENSG00000083444 PLOD1, LH1, LLH, EDS6 Autosomal recessive 225400 Ehlers-Danlos syndrome, type VI 3 +608507 MFN2 Mitofusin 2 ENSG00000116688 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B Autosomal dominant 609260 Charcot-Marie-Tooth disease, axonal, type 2A2A 3 +608507 MFN2 Mitofusin 2 ENSG00000116688 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B 617087 Charcot-Marie-Tooth disease, axonal, type 2A2B 3 +608507 MFN2 Mitofusin 2 ENSG00000116688 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B Autosomal dominant 601152 Hereditary motor and sensory neuropathy VIA 3 +609918 GBD2 Gallbladder disease 2 GBD2 609918 Gallbladder disease 2 2 +601405 CTRC Chymotrypsin ENSG00000162438 CTRC, CLCR Autosomal dominant 167800 Pancreatitis, chronic, susceptibility to 3 +609122 ANIB3 Aneurysm, intracranial berry, 3 ANIB3 Autosomal dominant 609122 Aneurysm, intracranial berry, 3 2 +616055 Episodic ataxia, type 8 EA8 between rs2743201 and rs215791 Autosomal dominant 616055 Episodic ataxia, type 8 2 +602024 CLCNKA Chloride channel, kidney, A ENSG00000186510 CLCNKA 11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB Digenic recessive 613090 Bartter syndrome, type 4b, digenic 3 +602023 CLCNKB Chloride channel, kidney, B ENSG00000184908 CLCNKB unequal crossingover with CLCNKA Autosomal recessive 607364 Bartter syndrome, type 3 3 +602023 CLCNKB Chloride channel, kidney, B ENSG00000184908 CLCNKB unequal crossingover with CLCNKA Digenic recessive 613090 Bartter syndrome, type 4b, digenic 3 +176946 EPHA2 Ephrin receptor EphA2 ENSG00000142627 EPHA2, ECK, ARCC2, CTPP1, CTPA, ARCC2, CTRCT6 Autosomal dominant 116600 Cataract 6, multiple types 3 +610513 ATP13A2 ATPase, type 13A2 ENSG00000159363 ATP13A2, PARK9, KRPPD, CLN12 mutation identified in 1 family with CLN12 Autosomal recessive 606693 ?Ceroid lipofuscinosis, neuronal, 12 3 +610513 ATP13A2 ATPase, type 13A2 ENSG00000159363 ATP13A2, PARK9, KRPPD, CLN12 mutation identified in 1 family with CLN12 Autosomal recessive 606693 Kufor-Rakeb syndrome 3 +185470 SDHB Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ENSG00000117118 SDHB, SDH2, SDHIP, PGL4, CWS2 1 of 2 polypeptides Autosomal dominant 612359 Cowden syndrome 2 3 +185470 SDHB Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ENSG00000117118 SDHB, SDH2, SDHIP, PGL4, CWS2 1 of 2 polypeptides Autosomal dominant, Isolated cases 606764 Gastrointestinal stromal tumor 3 +185470 SDHB Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ENSG00000117118 SDHB, SDH2, SDHIP, PGL4, CWS2 1 of 2 polypeptides 606864 Paraganglioma and gastric stromal sarcoma 3 +185470 SDHB Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ENSG00000117118 SDHB, SDH2, SDHIP, PGL4, CWS2 1 of 2 polypeptides Autosomal dominant 115310 Paragangliomas 4 3 +185470 SDHB Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ENSG00000117118 SDHB, SDH2, SDHIP, PGL4, CWS2 1 of 2 polypeptides Autosomal dominant 171300 Pheochromocytoma 3 +605347 PADI4 Peptidylarginine deiminase, type IV ENSG00000280908 PADI4, PADI5, PAD 180300 Rheumatoid arthritis, susceptibility to 3 +167410 PAX7 Paired box homeotic gene-7 ENSG00000009709 PAX7, RMS2 fused with FKHR in rhabdomyosarcoma Autosomal recessive 268220 Rhabdomyosarcoma 2, alveolar 3 +606811 ALDH4A1 Aldehyde dehydrogenase 4 family, member A1 (delta-1-pyrroline 5-carboxylate dehydrogenase) ENSG00000159423 ALDH4A1, ALDH4, P5CDH Autosomal recessive 239510 Hyperprolinemia, type II 3 +616846 EMC1 Endoplasmic reticulum membrane protein complex, subunit 1 ENSG00000127463 EMC1, KIAA0090, CAVIPMR Autosomal recessive 616875 Cerebellar atrophy, visual impairment, and psychomotor retardation 3 +172411 PLA2G2A Phospholipase A2, group IIA, platelets, synovial fluid ENSG00000188257 PLA2G2A, PLA2B, PLA2L, MOM1 Autosomal dominant 114500 Colorectal cancer 3 +601192 PLA2G5 Phospholipase A2, group V ENSG00000127472 PLA2G5, FRFB Autosomal recessive 228980 Fleck retina, familial benign 3 +612957 Vitamin B6 plasma level QTL 1 B6QTL1 associated with rs4654748 612957 Vitamin B6 plasma level QTL 1 2 +612627 Seizures, benign familial infantile, 4 BFIS4, BFIC4 between D1S2864 and D1S2830 612627 Seizures, benign familial infantile, 4 2 +608309 PINK1 PTEN-induced putative kinase 1 ENSG00000158828 PINK1, PARK6 Autosomal recessive 605909 Parkinson disease 6, early onset 3 +602202 DDOST Dolichyl-diphosphooligosaccharide-protein glycosyltransferase ENSG00000244038 DDOST, OST, OST48, CDG1R mutation (cmpd het) identified in 1 CDG1R patient Autosomal recessive 614507 ?Congenital disorder of glycosylation, type Ir 3 +600423 ECE1 Endothelin converting enzyme 1 ENSG00000117298 ECE1 613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction 3 +600423 ECE1 Endothelin converting enzyme 1 ENSG00000117298 ECE1 Multifactorial 145500 Hypertension, essential, susceptibility to 3 +171760 ALPL Alkaline phosphatase, liver/bone/kidney ENSG00000162551 ALPL, HOPS, TNSALP Autosomal recessive, Autosomal dominant 146300 Hypophosphatasia, adult 3 +171760 ALPL Alkaline phosphatase, liver/bone/kidney ENSG00000162551 ALPL, HOPS, TNSALP Autosomal recessive 241510 Hypophosphatasia, childhood 3 +171760 ALPL Alkaline phosphatase, liver/bone/kidney ENSG00000162551 ALPL, HOPS, TNSALP Autosomal recessive 241500 Hypophosphatasia, infantile 3 +171760 ALPL Alkaline phosphatase, liver/bone/kidney ENSG00000162551 ALPL, HOPS, TNSALP Autosomal recessive, Autosomal dominant 146300 Odontohypophosphatasia 3 +142461 HSPG2 Heparan sulfate proteoglycan of basement membrane (perlecan) ENSG00000142798 HSPG2, PLC, SJS, SJA, SJS1 Autosomal recessive 224410 Dyssegmental dysplasia, Silverman-Handmaker type 3 +142461 HSPG2 Heparan sulfate proteoglycan of basement membrane (perlecan) ENSG00000142798 HSPG2, PLC, SJS, SJA, SJS1 Autosomal recessive 255800 Schwartz-Jampel syndrome, type 1 3 +116952 CDC42 Cell division cycle 42 (GTP-binding protein, 25kD) ENSG00000070831 CDC42, TKS 616737 Takenouchi-Kosaki syndrome 3 +603490 WNT4 Wingless-type MMTV integration site family, member 4 ENSG00000162552 WNT4, SERKAL Autosomal dominant 158330 Mullerian aplasia and hyperandrogenism 3 +603490 WNT4 Wingless-type MMTV integration site family, member 4 ENSG00000162552 WNT4, SERKAL 611812 SERKAL syndrome 3 +120550 C1QA Complement component 1, q subcomponent, A chain ENSG00000173372 C1QA Autosomal recessive 613652 C1q deficiency 3 +120575 C1QC Complement component 1, q subcomponent, C chain ENSG00000159189 C1QC, C1QG Autosomal recessive 613652 C1q deficiency 3 +120570 C1QB Complement component 1, q subcomponent, B chain ENSG00000173369 C1QB Autosomal recessive 613652 C1q deficiency 3 +600997 EPHB2 eph tyrosine kinase 3 (ephrin receptor EphB2) ENSG00000133216 EPHB2, EPHT3, DRT, ERK, PCBC, CAPB 603688 Prostate cancer/brain cancer susceptibility, somatic 3 +609132 KDM1A Lysine-specific demethylase 1A ENSG00000004487 KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF Autosomal dominant 616728 Cleft palate, psychomotor retardation, and distinctive facial features 3 +604175 RPL11 Ribosomal protein L11 ENSG00000142676 RPL11, DBA7 612562 Diamond-Blackfan anemia 7 3 +606953 GALE UDP galactose-4-epimerase ENSG00000117308 GALE Autosomal recessive 230350 Galactose epimerase deficiency 3 +613898 HMGCL 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ENSG00000117305 HMGCL Autosomal recessive 246450 HMG-CoA lyase deficiency 3 +612280 FUCA1 Fucosidase, alpha-L- 1, tissue ENSG00000179163 FUCA1 8cM distal to RH; pseudogene on 2q31-q32 Autosomal recessive 230000 Fucosidosis 3 +608317 GRHL3 Grainyhead-like 3 ENSG00000158055 GRHL3, SOM, TFCP2L4, VWS2 Autosomal dominant 606713 Van der Woude syndrome 2 3 +111680 RHD Rhesus system D polypeptide ENSG00000187010 RHD Rh-negative blood type 3 +111700 RHCE Rhesus system C and E polypeptides ENSG00000188672 RHCE ?order: C-E-D 111690 Blood group, Rhesus 3 +111700 RHCE Rhesus system C and E polypeptides ENSG00000188672 RHCE ?order: C-E-D Rh-null disease, amorph type 3 +605747 LDLRAP1 Low density lipoprotein receptor adaptor protein 1 ENSG00000157978 LDLRAP1, ARH, FHCB2, FHCB1 603813 Hypercholesterolemia, familial, autosomal recessive 3 +606210 SELENON Selenoprotein N ENSG00000162430 SEPN1, SELN, RSMD1, CFTD Autosomal recessive 602771 Muscular dystrophy, rigid spine, 1 3 +606210 SELENON Selenoprotein N ENSG00000162430 SEPN1, SELN, RSMD1, CFTD Autosomal recessive, Autosomal dominant 255310 Myopathy, congenital, with fiber-type disproportion 3 +609617 SLC30A2 Solute carrier family 30 (zinc transporter), member 2 ENSG00000158014 SLC30A2, ZNT2, TNZD Autosomal dominant 608118 Zinc deficiency, transient neonatal 3 +608172 DHDDS Dehydrodolichyl diphosphate synthase ENSG00000117682 DHDDS, HDS, RP59 Autosomal recessive 613861 Retinitis pigmentosa 59 3 +603024 ARID1A AT rich interactive domain 1A, SWI-like ENSG00000117713 ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2 Autosomal dominant 614607 Coffin-Siris syndrome 2 3 +610274 PIGV Phosphatidylinositol glycan, class V ENSG00000060642 PIGV, HPMRS1 Autosomal recessive 239300 Hyperphosphatasia with mental retardation syndrome 1 3 +604630 NR0B2 Nuclear receptor subfamily 0, group B, member 2 ENSG00000131910 NR0B2, SHP Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, mild, early-onset 3 +107310 SLC9A1 Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) ENSG00000090020 SLC9A1, NHE1, APNH, LIKNS mutation identified in 1 LIKNS family Autosomal recessive 616291 ?Lichtenstein-Knorr syndrome 3 +604973 FCN3 Ficolin 3 ENSG00000142748 FCN3, HAKA1 Autosomal recessive 613860 Immunodeficiency due to ficolin 3 deficiency 3 +615790 AHDC1 AT-hook DNA-binding motif-containing protein 1 ENSG00000126705 AHDC1, MRD25 Autosomal dominant 615829 Xia-Gibbs syndrome 3 +130500 EPB41 Erythrocyte surface protein band 4.1 ENSG00000159023 EPB41, EL1 611804 Elliptocytosis-1 3 +186357 SDC3 Syndecan 3 ENSG00000162512 SDC3, SYND3, SDCN Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, association with 3 +610162 CCDC28B Coiled-coil comain-containing protein 28B ENSG00000160050 CCDC28B, MGC1203 Autosomal recessive, Digenic recessive 209900 Bardet-Biedl syndrome 1, modifier of 3 +153390 LCK Lymphocyte-specific protein tyrosine kinase ENSG00000182866 LCK, IMD22 LCK/TCRB fusion in leukemia; mutation identified in 1 IMD22 patient Autosomal recessive 615758 ?Immunodeficiency 22 3 +603623 YARS Tyrosyl-tRNA synthetase ENSG00000134684 YARS, CMTDIC, TYRRS, YTS, YRS Autosomal dominant 608323 Charcot-Marie-Tooth disease, dominant intermediate C 3 +142622 HPCA Hippocalcin, 23kD, Ca2+-binding protein ENSG00000121905 HPCA, DYT2 Autosomal recessive 224500 Dystonia 2, torsion, autosomal recessive 3 +103020 AK2 Adenylate kinase-2, mitochondrial ENSG00000004455 AK2 Autosomal recessive 267500 Reticular dysgenesis 3 +612968 Cataract 34, multiple types CTRCT34, CATC3 between D1S2729 and D1S2890 612968 Cataract 34, multiple types 2 +609919 GBD3 Gallbladder disease 3 GBD3 new D2S255 609919 Gallbladder disease 3 2 +613545 Macrostomia MACST max lod at D1S2797 613545 Macrostomia 2 +605425 GJB4 Gap junction protein, beta-4 ENSG00000189433 GJB4, CX30.3 Autosomal recessive, Autosomal dominant 133200 Erythrokeratodermia variabilis with erythema gyratum repens 3 +603324 GJB3 Gap junction protein, beta-3 ENSG00000188910 GJB3, CX31, DFNA2B same YAC as GJA4 Autosomal dominant 612644 Deafness, autosomal dominant 2B 3 +603324 GJB3 Gap junction protein, beta-3 ENSG00000188910 GJB3, CX31, DFNA2B same YAC as GJA4 Deafness, autosomal dominant, with peripheral neuropathy 3 +603324 GJB3 Gap junction protein, beta-3 ENSG00000188910 GJB3, CX31, DFNA2B same YAC as GJA4 Deafness, autosomal recessive 3 +603324 GJB3 Gap junction protein, beta-3 ENSG00000188910 GJB3, CX31, DFNA2B same YAC as GJA4 Autosomal recessive, Digenic dominant 220290 Deafness, digenic, GJB2/GJB3 3 +603324 GJB3 Gap junction protein, beta-3 ENSG00000188910 GJB3, CX31, DFNA2B same YAC as GJA4 Autosomal recessive, Autosomal dominant 133200 Erythrokeratodermia variabilis et progressiva 3 +120252 COL8A2 Collagen VIII, alpha-2 polypeptide ENSG00000171812 COL8A2, FECD1, PPCD2 Autosomal dominant 136800 Corneal dystrophy, Fuchs endothelial, 1 3 +120252 COL8A2 Collagen VIII, alpha-2 polypeptide ENSG00000171812 COL8A2, FECD1, PPCD2 609140 Corneal dystrophy, posterior polymorphous 2 3 +138971 CSF3R Colony-stimulating factor-3 receptor (granulocyte) ENSG00000119535 CSF3R, GCSFR, SCN7 Autosomal recessive 617014 Neutropenia, severe congenital, 7, autosomal recessive 3 +608241 SNIP1 SMAD nuclear interacting protein 1 ENSG00000163877 SNIP1, PMRED Autosomal recessive 614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism 3 +609595 RSPO1 Roof plate-specific spondin, mouse, homolog of, 1 ENSG00000169218 RSPO1, FLJ40906 610644 Palmoplantar hyperkeratosis and true hermaphroditism 3 +609595 RSPO1 Roof plate-specific spondin, mouse, homolog of, 1 ENSG00000169218 RSPO1, FLJ40906 610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 3 +614397 MFSD2A Major facilitator superfamily domain-containing protein 2A ENSG00000168389 MFSD2A, MCPH15 Autosomal recessive 616486 Microcephaly 15, primary, autosomal recessive 3 +600722 PPT1 Palmitoyl-protein thioesterase 1 ENSG00000131238 PPT1, CLN1 Autosomal recessive 256730 Ceroid lipofuscinosis, neuronal, 1 3 +606480 ZMPSTE24 Zinc metalloproteinase STE24 ENSG00000084073 ZMPSTE24, FACE1, STE24, MADB Autosomal recessive 608612 Mandibuloacral dysplasia with type B lipodystrophy 3 +606480 ZMPSTE24 Zinc metalloproteinase STE24 ENSG00000084073 ZMPSTE24, FACE1, STE24, MADB Autosomal recessive 275210 Restrictive dermopathy, lethal 3 +120260 COL9A2 Collagen IX, alpha-2 polypeptide ENSG00000049089 COL9A2, EDM2, STL5 mutation identified in1 STL5 family Autosomal dominant 600204 Epiphyseal dysplasia, multiple, 2 3 +120260 COL9A2 Collagen IX, alpha-2 polypeptide ENSG00000049089 COL9A2, EDM2, STL5 mutation identified in1 STL5 family 603932 Intervertebral disc disease, susceptibility to 3 +120260 COL9A2 Collagen IX, alpha-2 polypeptide ENSG00000049089 COL9A2, EDM2, STL5 mutation identified in1 STL5 family Autosomal recessive 614284 ?Stickler syndrome, type V 3 +603537 KCNQ4 Potassium voltage-gated channel, KQT-like subfamily, member 4 ENSG00000117013 KCNQ4, DFNA2A Autosomal dominant 600101 Deafness, autosomal dominant 2A 3 +123860 CTPS1 Cytidine 5'-triphosphate synthetase 1 ENSG00000171793 CTPS1, CTPS, IMD24 Autosomal recessive 615897 Immunodeficiency 24 3 +610036 CLDN19 Claudin 19 ENSG00000164007 CLDN19, HOMG5 Autosomal recessive 248190 Hypomagnesemia 5, renal, with ocular involvement 3 +610339 P3H1 Prolyl 3-hydroxylase 1 ENSG00000117385 P3H1, LEPRE1, GROS1, OI8 Autosomal recessive 610915 Osteogenesis imperfecta, type VIII 3 +609017 ERMAP Erythroblast membrane-associated protein ENSG00000164010 ERMAP, SC, RD 111620 Blood group, Radin 3 +609017 ERMAP Erythroblast membrane-associated protein ENSG00000164010 ERMAP, SC, RD 111750 Blood group, Scianna system 3 +138140 SLC2A1 Solute carrier family 2 (facilitated glucose transporter), member 1 ENSG00000117394 SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN probably in 1p33 Autosomal dominant 601042 Dystonia 9 3 +138140 SLC2A1 Solute carrier family 2 (facilitated glucose transporter), member 1 ENSG00000117394 SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN probably in 1p33 Autosomal dominant 614847 Epilepsy, idiopathic generalized, susceptibility to, 12 3 +138140 SLC2A1 Solute carrier family 2 (facilitated glucose transporter), member 1 ENSG00000117394 SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN probably in 1p33 Autosomal recessive, Autosomal dominant 606777 GLUT1 deficiency syndrome 1, infantile onset, severe 3 +138140 SLC2A1 Solute carrier family 2 (facilitated glucose transporter), member 1 ENSG00000117394 SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN probably in 1p33 Autosomal dominant 612126 GLUT1 deficiency syndrome 2, childhood onset 3 +138140 SLC2A1 Solute carrier family 2 (facilitated glucose transporter), member 1 ENSG00000117394 SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN probably in 1p33 Autosomal dominant 608885 Stomatin-deficient cryohydrocytosis with neurologic defects 3 +159530 MPL Myeloproliferative leukemia virus, homolog of ENSG00000117400 MPL, TPOR, MPLV, THCYT2 254450 Myelofibrosis with myeloid metaplasia, somatic 3 +159530 MPL Myeloproliferative leukemia virus, homolog of ENSG00000117400 MPL, TPOR, MPLV, THCYT2 Autosomal dominant, Somatic mutation 601977 Thrombocythemia 2 3 +159530 MPL Myeloproliferative leukemia virus, homolog of ENSG00000117400 MPL, TPOR, MPLV, THCYT2 Autosomal recessive 604498 Thrombocytopenia, congenital amegakaryocytic 3 +615463 SZT2 Seizure threshold 2, mouse, homolog of ENSG00000198198 SZT2, KIAA0467, EIEE18 Autosomal recessive 615476 Epileptic encephalopathy, early infantile, 18 3 +179590 PTPRF Protein tyrosine phosphatase, receptor type, f polypeptide ENSG00000142949 PTPRF, LAR, BNAH2 mutation identified in 1 BNAH2 family Autosomal recessive 616001 ?Breasts and/or nipples, aplasia or hypoplasia of, 2 3 +178300 PTOS1 Ptosis, congenital 1, autosomal dominant PTOS1 Autosomal dominant 178300 Ptosis, hereditary congenital, 1 2 +606494 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ENSG00000126091 ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15 Autosomal recessive 615006 Epileptic encephalopathy, early infantile, 15 3 +606494 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ENSG00000126091 ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15 Autosomal recessive 611090 Mental retardation, autosomal recessive 12 3 +603673 PTCH2 Patched, Drosophila, homolog of, 2 ENSG00000117425 PTCH2 605462 Basal cell carcinoma, somatic 3 +603673 PTCH2 Patched, Drosophila, homolog of, 2 ENSG00000117425 PTCH2 Autosomal dominant 109400 Basal cell nevus syndrome 3 +603673 PTCH2 Patched, Drosophila, homolog of, 2 ENSG00000117425 PTCH2 Autosomal dominant 155255 Medulloblastoma 3 +606273 EIF2B3 Eukaryotic translation initiation factor 2B, subunit 3 ENSG00000070785 EIF2B3 Autosomal recessive 603896 Leukoencephalopathy with vanishing white matter 3 +613521 UROD Uroporphyrinogen decarboxylase ENSG00000126088 UROD Autosomal dominant 176100 Porphyria cutanea tarda 3 +613521 UROD Uroporphyrinogen decarboxylase ENSG00000126088 UROD Autosomal dominant 176100 Porphyria, hepatoerythropoietic 3 +604933 MUTYH MutY, E. coli, homolog of ENSG00000132781 MUTYH, MYH 608456 Adenomas, multiple colorectal 3 +604933 MUTYH MutY, E. coli, homolog of ENSG00000132781 MUTYH, MYH Somatic mutation 132600 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 3 +604933 MUTYH MutY, E. coli, homolog of ENSG00000132781 MUTYH, MYH 613659 Gastric cancer, somatic 3 +609831 MMACHC MMACHC gene ENSG00000132763 MMACHC Autosomal recessive 277400 Methylmalonic aciduria and homocystinuria, cblC type 3 +606822 POMGNT1 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase ENSG00000085998 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 Autosomal recessive 253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 3 +606822 POMGNT1 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase ENSG00000085998 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 Autosomal recessive 613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 3 +606822 POMGNT1 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase ENSG00000085998 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 Autosomal recessive 613157 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 3 +606822 POMGNT1 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase ENSG00000085998 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76 Autosomal recessive 617123 Retinitis pigmentosa 76 3 +603615 RAD54L RAD54, S. cerevisiae, homolog-like ENSG00000085999 RAD54L, HR54, HRAD54 Adenocarcinoma, colonic, somatic 3 +603615 RAD54L RAD54, S. cerevisiae, homolog-like ENSG00000085999 RAD54L, HR54, HRAD54 Autosomal dominant 114480 Breast cancer, invasive ductal 3 +603615 RAD54L RAD54, S. cerevisiae, homolog-like ENSG00000085999 RAD54L, HR54, HRAD54 605027 Lymphoma, non-Hodgkin, somatic 3 +612728 Bone mineral density quantitative trait locus 14 BMND14 associated with rs17131547 612728 Bone mineral density QTL 14 2 +613606 Forsythe-Wakeling syndrome FWS between rs2354462 and rs718883 Autosomal recessive 613606 Forsythe-Wakeling syndrome 2 +613857 Orofacial cleft 13 OFC13 associated with rs3827730 Autosomal dominant 613857 Orofacial cleft 13 2 +602935 FAAH Fatty acid amide hydrolase ENSG00000117480 FAAH 606581 Drug addiction, susceptibility to 3 +187040 TAL1 T-cell acute lymphocytic leukemia-1 ENSG00000162367 TAL1, TCL5, SCL proximal to MYCL1 613065 Leukemia, T-cell acute lymphocytic, somatic 3 +181590 STIL SCL/TAL1-interrupting locus ENSG00000123473 STIL, SIL, MCPH7 within about 250kb of SCL Autosomal recessive 612703 Microcephaly 7, primary, autosomal recessive 3 +601094 FOXE3 Forkhead box E3 ENSG00000186790 FOXE3, FKHL12, ASMD Autosomal dominant 107250 Anterior segment mesenchymal dysgenesis 3 +601094 FOXE3 Forkhead box E3 ENSG00000186790 FOXE3, FKHL12, ASMD Autosomal recessive 610256 Aphakia, congenital primary 3 +168360 ELAVL4 Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4 (Hu antigen D) ENSG00000162374 ELAVL4, HUD, PNEM Neuropathy, paraneoplastic sensory 1 +613735 Chromosome 1p32-p31 deletion syndrome DEL1p32p31, C1DELp32p31 contiguous gene (4.93Mb) deletion syndrome Isolated cases 613735 Chromosome 1p32-p31 deletion syndrome 4 +606852 PARK10 Parkinson disease 10 PARK10, AAOPD max lod at D1S2652; ?associated with CDCP2 606852 Parkinson disease 10 2 +615945 SCA37 Spinocerebellar ataxia 37 SCA37 between D1S200 and D1S2742 Autosomal dominant 615945 Spinocerebellar ataxia 37 2 +613548 Stature quantitative trait locus 23 STQTL23 linked to rs628667 613548 Stature QTL 23 2 +601902 ORC1 Origin recognition complex, subunit 1, S. cerevisiae, homolog ENSG00000085840 ORC1, ORC1L Autosomal recessive 224690 Meier-Gorlin syndrome 1 3 +184755 SCP2 Sterol carrier protein-2 ENSG00000116171 SCP2 Autosomal recessive 613724 Leukoencephalopathy with dystonia and motor neuropathy 3 +600650 CPT2 Carnitine palmitoyltransferase II ENSG00000157184 CPT2, IIAE4 formerly at 1p13 Autosomal recessive 608836 CPT II deficiency, lethal neonatal 3 +600650 CPT2 Carnitine palmitoyltransferase II ENSG00000157184 CPT2, IIAE4 formerly at 1p13 Autosomal recessive 600649 CPT deficiency, hepatic, type II 3 +600650 CPT2 Carnitine palmitoyltransferase II ENSG00000157184 CPT2, IIAE4 formerly at 1p13 Autosomal recessive, Autosomal dominant 614212 Encephalopathy, acute, infection-induced, 4, susceptibility to 3 +600650 CPT2 Carnitine palmitoyltransferase II ENSG00000157184 CPT2, IIAE4 formerly at 1p13 Autosomal recessive 255110 Myopathy due to CPT II deficiency 3 +602600 LRP8 Low density lipoprotein receptor-related protein 8 (Apolipoportein E receptor 2) ENSG00000157193 LRP8, APOER2, MCI1 608446 Myocardial infarction, susceptibility to 3 +606418 DHCR24 24-dehydrocholesterol reductase ENSG00000116133 DHCR24, KIAA0018 Autosomal recessive 602398 Desmosterolosis 3 +606412 BSND Barttin ENSG00000162399 BSND Autosomal recessive 602522 Bartter syndrome, type 4a 3 +606412 BSND Barttin ENSG00000162399 BSND Autosomal recessive 602522 Sensorineural deafness with mild renal dysfunction 3 +607786 PCSK9 Proprotein convertase, subtilisin/kexin-type, 9 ENSG00000169174 PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 603776 Hypercholesterolemia, familial, 3 3 +607786 PCSK9 Proprotein convertase, subtilisin/kexin-type, 9 ENSG00000169174 PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 603776 Low density lipoprotein cholesterol level QTL 1 3 +120950 C8A Complement component-8, alpha polypeptide ENSG00000157131 C8A Autosomal recessive 613790 C8 deficiency, type I 3 +120960 C8B Complement component-8, beta polypeptide ENSG00000021852 C8B Autosomal recessive 613789 C8 deficiency, type II 3 +137290 TACSTD2 Tumor-associated calcium signal transducer 2 ENSG00000184292 TACSTD2, TROP2, M1S1 Autosomal recessive 204870 Corneal dystrophy, gelatinous drop-like 3 +601676 Acute insulin response AIR 601676 Acute insulin response 2 +610906 Asthma-related traits, susceptibility to, 4 ASRT4 max lod at D1S2890 610906 Asthma-related traits, susceptibility to, 4 2 +606215 AVSD1 Atrioventricular septal defect, susceptibility to, 1 AVSD1, AVCD 606215 Atrioventricular septal defect, susceptibility to, 1 2 +615892 Orofacial cleft 14 OFC14 Autosomal recessive 615892 Orofacial cleft 14 2 +164750 Omphalocele due to duplication of 1p31.3 OPHLC, C1DUPp31.3, DUP1p31.3 duplication of 710kb at 1p31.3 Autosomal dominant 164750 Omphalocele due to duplication of 1p31.3 4 +606787 Peripheral arterial occlusive disease 1 PAOD1 606787 Peripheral arterial occlusive disease 1 2 +612293 Porokeratosis 5, disseminated superficial actinic POROK5, DSAP3 612293 Porokeratosis 5, disseminated superficial actinic 2 +615730 DOCK7 Dedicator of cytokinesis 7 ENSG00000116641 DOCK7, KIAA1771, EIEE23 Autosomal recessive 615859 Epileptic encephalopathy, early infantile, 23 3 +604774 ANGPTL3 Angiopoietin-like 3 ENSG00000132855 ANGPTL3, ANGPT5, FHBL2 Autosomal recessive 605019 Hypobetalipoproteinemia, familial, 2 3 +611539 FOXD3 Forkhead box D3 ENSG00000187140 FOXD3, AIS1, VAMAS2 607836 Autoimmune disease, susceptibility to, 1 3 +604566 ALG6 Alg6, S. cerevisiae, homolog of ENSG00000088035 ALG6, CDG1C Autosomal recessive 603147 Congenital disorder of glycosylation, type Ic 3 +171900 PGM1 Phosphoglucomutase-1 ENSG00000079739 PGM1, GSD14, CDG1T distal to ACADM; formerly 1p22.1 Autosomal recessive 614921 Congenital disorder of glycosylation, type It 3 +608375 DNAJC6 DNAJ, E. coli, homolog of, subfamily C, member 6 ENSG00000116675 DNAJC6, DJC6, KIAA0473, PARK19 Autosomal recessive 615528 Parkinson disease 19a, juvenile-onset 3 +608375 DNAJC6 DNAJ, E. coli, homolog of, subfamily C, member 6 ENSG00000116675 DNAJC6, DJC6, KIAA0473, PARK19 Autosomal recessive 615528 Parkinson disease 19b, early-onset 3 +601007 LEPR Leptin receptor ENSG00000116678 LEPR, OBR, LEPRD 614963 Obesity, morbid, due to leptin receptor deficiency 3 +610804 SLC35D1 Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 ENSG00000116704 SLC35D1, UGTREL7, KIAA0260 Autosomal recessive 269250 Schneckenbecken dysplasia 3 +607562 IL23R Interleukin 23 receptor ENSG00000162594 IL23R, IBD17 612261 Inflammatory bowel disease 17, protection against 3 +607562 IL23R Interleukin 23 receptor ENSG00000162594 IL23R, IBD17 605606 Psoriasis, protection against 3 +180069 RPE65 Retinal pigment epithelium-specific protein, 65kD ENSG00000116745 RPE65, RP20, LCA2 Autosomal recessive 204100 Leber congenital amaurosis 2 3 +180069 RPE65 Retinal pigment epithelium-specific protein, 65kD ENSG00000116745 RPE65, RP20, LCA2 613794 Retinitis pigmentosa 20 3 +613008 Biliary cirrhosis, primary, 3 PBC3 associated with rs3790567 613008 Biliary cirrhosis, primary, 3 2 +609727 SPG29 Spastic paraplegia 29, autosomal dominant SPG29 max lod at D1S2865 Autosomal dominant 609727 Spastic paraplegia 29, autosomal dominant 2 +607657 CTH Cystathionine gamma-lyase ENSG00000116761 CTH previously assigned to chr.16 Autosomal recessive 219500 Cystathioninuria 3 +607657 CTH Cystathionine gamma-lyase ENSG00000116761 CTH previously assigned to chr.16 Homocysteine, total plasma, elevated 3 +613932 TNNI3K TNNI3-interacting kinase ENSG00000116783 TNNI3K, CCDD mutation identified in 1 CCDD family Autosomal dominant 616117 ?Cardiac conduction disease with or without dilated cardiomyopathy 3 +607008 ACADM Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ENSG00000117054 ACADM, MCAD Autosomal recessive 201450 Acyl-CoA dehydrogenase, medium chain, deficiency of 3 +613121 NEXN Nexilin, rat, homolog of ENSG00000162614 NEXN, NELIN, CMD1CC, CMH20 613122 Cardiomyopathy, dilated, 1CC 3 +613121 NEXN Nexilin, rat, homolog of ENSG00000162614 NEXN, NELIN, CMD1CC, CMH20 Autosomal dominant 613876 Cardiomyopathy, hypertrophic, 20 3 +608035 Melanoma, cutaneous malignant, 4 CMM4 between D1S430 and D1S2664 608035 Melanoma, cutaneous malignant, 4 2 +611381 Kala-azar, susceptibility to, 2 KAZA2 611381 Kala-azar, susceptibility to, 2 2 +191540 UOX Urate oxidase, pseudogene UOX nonsense mutations responsible for absence of enzyme in man and hominoid primates Urate oxidase deficiency 1 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient Autosomal recessive 616098 ?Immunodeficiency 37 3 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient 137245 Lymphoma, MALT, somatic 3 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient 605027 Lymphoma, follicular, somatic 3 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient 273300 Male germ cell tumor, somatic}, 3 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient 156240 Mesothelioma, somatic 3 +603517 BCL10 B-cell leukemia/lymphoma 10 ENSG00000142867 BCL10, IMD37 mutation identified in 1 IMD37 patient Sezary syndrome, somatic 3 +614159 ZNF644 Zinc finger protein 644 ENSG00000122482 ZNF644, MYP21 Autosomal dominant 614167 Myopia 21, autosomal dominant 3 +615684 HFM1 Hfm1, ATP-dependent DNA helicase, S. cerevisiae, homolog of ENSG00000162669 HFM1, MER3, POF9 Autosomal recessive 615724 Premature ovarian failure 9 3 +608653 DFNB32 Deafness, autosomal recessive 32 DFNB32 max lod at D1S21401 Autosomal recessive 608653 Deafness, autosomal recessive 32 2 +601749 GLMN Glomulin ENSG00000174842 GLML, GVM, VMGLOM Autosomal dominant 138000 Glomuvenous malformations 3 +600871 GFI1 Growth factor independent 1 ENSG00000162676 GFI1, ZNF163, SCN2 607847 Neutropenia, nonimmune chronic idiopathic, of adults 3 +600871 GFI1 Growth factor independent 1 ENSG00000162676 GFI1, ZNF163, SCN2 613107 Neutropenia, severe congenital 2, autosomal dominant 3 +603634 RPL5 Ribosomal protein L5 ENSG00000122406 RPL5, DBA6 612561 Diamond-Blackfan anemia 6 3 +601176 GCLM Glutamate-cysteine ligase, modifier subunit ENSG00000023909 GCLM, GLCLR 608446 Myocardial infarction, susceptibility to 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 604116 Cone-rod dystrophy 3 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 Autosomal recessive 248200 Fundus flavimaculatus 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 Autosomal dominant 153800 Macular degeneration, age-related, 2 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 Autosomal recessive 248200 Retinal dystrophy, early-onset severe 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 601718 Retinitis pigmentosa 19 3 +601691 ABCA4 ATP-binding transporter, retina-specific ENSG00000198691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 Autosomal recessive 248200 Stargardt disease 1 3 +609913 RP32 Retinitis pigmentosa-32 RP32 max lod at D1S485 609913 Retinitis pigmentosa 32 2 +609822 Stature quantitative trait locus 7 STQTL7 max lod at D1S1631 609822 Stature QTL 7 2 +600193 WS2B Waardenburg syndrome, type 2B WS2B Autosomal dominant 600193 Waardenburg syndrome, type 2B 2 +170995 ABCD3 ATP-binding cassette, subfamily D, member 3 (peroxisomal membrane protein 1, 70kD) ENSG00000117528 ABCD3, PXMP1, PMP70, CBAS5 mutation identified in 1 CBAS5 family Autosomal recessive 616278 ?Bile acid synthesis defect, congenital, 5 3 +612866 ALG14 Alg14, S. cerevisiae, homolog of ENSG00000172339 ALG14, CMS15 mutation identified in 1 CMSWTA family 616227 ?Myasthenic syndrome, congenital, 15, without tubular aggregates 3 +612779 DPYD Dihydropyrimidine dehydrogenase ENSG00000188641 DPYD, DPD Autosomal recessive 274270 Dihydropyrimidine dehydrogenase deficiency 3 +612779 DPYD Dihydropyrimidine dehydrogenase ENSG00000188641 DPYD, DPD Autosomal recessive 274270 5-fluorouracil toxicity 3 +610860 AGL Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) ENSG00000162688 AGL, GDE Autosomal recessive 232400 Glycogen storage disease IIIa 3 +610860 AGL Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) ENSG00000162688 AGL, GDE Autosomal recessive 232400 Glycogen storage disease IIIb 3 +605632 SLC35A3 Solute carrier family 35 (UDP-GlcNAc transporter), member 3 ENSG00000117620 SLC35A3, AMRS mutation identified in 1 family Autosomal recessive 615553 ?Arthrogryposis, mental retardation, and seizures 3 +609321 SASS6 Sas6, C. elegans, homolog of ENSG00000156876 SASS6, SAS6, MCPH14 mutation identified in 1 MCPH14 family Autosomal recessive 616402 ?Microcephaly 14, primary, autosomal recessive 3 +248610 DBT Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex) ENSG00000137992 DBT, BCATE2 pseudogene on 3q24 Autosomal recessive 248600 Maple syrup urine disease, type II 3 +603504 CDC14A Cell division cycle 14, S. cerevisiae, homolog A ENSG00000079335 CDC14A, DFNB105 Autosomal recessive 616958 Deafness, autosomal recessive 105 3 +607468 GPR88 G protein-coupled receptor 88 ENSG00000181656 GPR88, STRG, COCPMR mutation identified in 1 COCPMR family Autosomal recessive 616939 ?Chorea, childhood-onset, with psychomotor retardation 3 +612841 Hypotrichosis 5 HYPT5, MUHH2 max lod at D1S2881 612841 Hypotrichosis 5 2 +611107 MRT4 Mental retardation, autosomal recessive, 4 MRT4 between D2S429 and D1S187 Autosomal recessive 611107 Mental retardation, autosomal recessive, 4 2 +120280 COL11A1 Collagen XI, alpha-1 polypeptide ENSG00000060718 COL11A1, STL2 Autosomal recessive 228520 Fibrochondrogenesis 1 3 +120280 COL11A1 Collagen XI, alpha-1 polypeptide ENSG00000060718 COL11A1, STL2 603932 Lumbar disc herniation, susceptibility to 3 +120280 COL11A1 Collagen XI, alpha-1 polypeptide ENSG00000060718 COL11A1, STL2 Autosomal dominant 154780 Marshall syndrome 3 +120280 COL11A1 Collagen XI, alpha-1 polypeptide ENSG00000060718 COL11A1, STL2 Autosomal dominant 604841 Stickler syndrome, type II 3 +193000 Vesicoureteral reflux VUR Autosomal dominant 193000 Vesicoureteral reflux 2 +609245 GPSM2 G protein signaling modulator 2 ENSG00000121957 GPSM2, LGN, PINS, DFNB82, CMCS Autosomal recessive 604213 Chudley-McCullough syndrome 3 +602458 SORT1 Sortilin ENSG00000134243 SORT1, NT3, LDLCQ6 Autosomal dominant 613589 Low density lipoprotein cholesterol level QTL6 3 +139370 GNAI3 Guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 ENSG00000065135 GNAI3, ARCND1 Autosomal dominant 602483 Auriculocondylar syndrome 1 3 +139340 GNAT2 Guanine nucleotide-binding protein (G-protein), alpha-transducing (transducin) activity polypeptide-2 ENSG00000134183 GNAT2, ACHM4 613856 Achromatopsia-4 3 +102771 AMPD2 Adenosine monophosphate deaminase-2, isoform L ENSG00000116337 AMPD2, SPG63, PCH9 mutation identified in 1 SPG63 family Autosomal recessive 615809 Pontocerebellar hypoplasia, type 9 3 +102771 AMPD2 Adenosine monophosphate deaminase-2, isoform L ENSG00000116337 AMPD2, SPG63, PCH9 mutation identified in 1 SPG63 family Autosomal recessive 615686 ?Spastic paraplegia 63 3 +606014 ALX3 Aristaless-like homeobox 3 ENSG00000156150 ALX3, FND1 Autosomal recessive 136760 Frontonasal dysplasia 1 3 +610299 SLC6A17 Solute carrier family 6 (neurotransmitter transporter), member 17 ENSG00000197106 SLC6A17, NTT4, MRT48 Autosomal recessive 616269 Mental retardation, autosomal recessive 48 3 +606077 RBM15 One-twenty two protein (RNA binding motif protein 15; Spen, Drosophila, homolog of) ENSG00000162775 RBM15, SPEN, OTT 606077 Megakaryoblastic leukemia, acute 2 +176262 KCNA2 Potassium channel, voltage-gated, Shaker-related subfamily, member 2 ENSG00000177301 KCNA2, EIEE32 Autosomal dominant 616366 Epileptic encephalopathy, early infantile, 32 3 +613360 DRAM2 Damage-regulated autophagy modulator 2 ENSG00000156171 DRAM2, TMEM77, CORD21 Autosomal recessive 616502 Cone-rod dystrophy 21 3 +605411 KCND3 Potassium voltage-gated channel, Shal-related subfamily, member 3 ENSG00000171385 KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9 Autosomal dominant 616399 Brugada syndrome 9 3 +605411 KCND3 Potassium voltage-gated channel, Shal-related subfamily, member 3 ENSG00000171385 KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9 Autosomal dominant 607346 Spinocerebellar ataxia 19 3 +600682 SLC16A1 Solute carrier family 16 (monocarboxylic acid transporters), member 1 ENSG00000281917 SLC16A1, MCT1, HHF7, MCT1D Autosomal dominant 245340 Erythrocyte lactate transporter defect 3 +600682 SLC16A1 Solute carrier family 16 (monocarboxylic acid transporters), member 1 ENSG00000281917 SLC16A1, MCT1, HHF7, MCT1D Autosomal dominant 610021 Hyperinsulinemic hypoglycemia, familial, 7 3 +600682 SLC16A1 Solute carrier family 16 (monocarboxylic acid transporters), member 1 ENSG00000281917 SLC16A1, MCT1, HHF7, MCT1D Autosomal recessive, Autosomal dominant 616095 Monocarboxylate transporter 1 deficiency 3 +608869 LRIG2 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 ENSG00000198799 LRIG2, LIG2, KIAA0806, UFS2 Autosomal recessive 615112 Urofacial syndrome 2 3 +600716 PTPN22 Protein tyrosine phosphatase, nonreceptor-type 22 ENSG00000134242 PTPN22, PEP, PTPN8, LYP Autosomal recessive 222100 Diabetes, type 1, susceptibility to 3 +600716 PTPN22 Protein tyrosine phosphatase, nonreceptor-type 22 ENSG00000134242 PTPN22, PEP, PTPN8, LYP 180300 Rheumatoid arthritis, susceptibility to 3 +600716 PTPN22 Protein tyrosine phosphatase, nonreceptor-type 22 ENSG00000134242 PTPN22, PEP, PTPN8, LYP Autosomal dominant 152700 Systemic lupus erythematosus susceptibility to 3 +607245 AP4B1 Adaptor-related protein complex 4, beta-1 subunit ENSG00000134262 AP4B1, SPG47, CPSQ5 Autosomal recessive 614066 Spastic paraplegia 47, autosomal recessive 3 +102770 AMPD1 Adenosine monophosphate deaminase-1, muscle ENSG00000116748 AMPD1, MMDD Autosomal recessive 615511 Myopathy due to myoadenylate deaminase deficiency 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 114500 Colorectal cancer, somatic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 162900 Epidermal nevus, somatic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 137550 Melanocytic nevus syndrome, congenital, somatic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 249400 Neurocutaneous melanosis, somatic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS Autosomal dominant 613224 Noonan syndrome 6 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 614470 ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 163200 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 3 +164790 NRAS Neuroblastoma RAS viral (v-ras) oncogene homolog ENSG00000213281 NRAS, ALPS4, NS6, CMNS, NCMS cen-CD2-NGFB-NRAS 188470 Thyroid carcinoma, follicular, somatic 3 +188540 TSHB Thyroid-stimulating hormone, beta polypeptide ENSG00000134200 TSHB, CHNG4 centromeric to NGFB Autosomal recessive 275100 Hypothryoidism, congenital, nongoitrous 4 3 +162030 NGF Nerve growth factor, beta ENSG00000134259 NGF, NGFB, HSAN5 same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel Autosomal recessive 608654 Neuropathy, hereditary sensory and autonomic, type V 3 +610132 VANGL1 Vang-like 1 ENSG00000173218 VANGL1, STBM2 Autosomal dominant 600145 Caudal regression syndrome 3 +610132 VANGL1 Vang-like 1 ENSG00000173218 VANGL1, STBM2 Autosomal dominant 182940 Neural tube defects, susceptibility to 3 +114251 CASQ2 Calsequestrin, fast-twitch, skeletal muscle-2 ENSG00000118729 CASQ2 Autosomal recessive 611938 Ventricular tachycardia, catecholaminergic polymorphic, 2 3 +603491 IGSF3 Immunoglobulin superfamily, member 3 ENSG00000143061 IGSF3, LCDD mutation identified in 1 LCDD family Autosomal recessive 149700 ?Lacrimal duct defect 3 +604127 TBX15 T-box 15 ENSG00000092607 TBX15 Autosomal recessive 260660 Cousin syndrome 3 +613890 HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 2 (adrenal, gonadal) ENSG00000203859 HSD3B2 Autosomal recessive 201810 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 3 +606879 PHGDH Phosphoglycerate dehydrogenase ENSG00000092621 PHGDH, NLS1, PHGDHD Autosomal recessive 256520 Neu-Laxova syndrome 1 3 +606879 PHGDH Phosphoglycerate dehydrogenase ENSG00000092621 PHGDH, NLS1, PHGDHD Autosomal recessive 601815 Phosphoglycerate dehydrogenase deficiency 3 +600234 HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial ENSG00000134240 HMGCS2 605911 HMG-CoA synthase-2 deficiency 3 +600275 NOTCH2 Notch, Drosophila, homolog of, 2 ENSG00000134250 NOTCH2, AGS2, HJCYS Autosomal dominant 610205 Alagille syndrome 2 3 +600275 NOTCH2 Notch, Drosophila, homolog of, 2 ENSG00000134250 NOTCH2, AGS2, HJCYS Autosomal dominant 102500 Hajdu-Cheney syndrome 3 +606190 Meningioma, radiation-induced MNRI 606190 Meningioma, radiation-induced 2 +605549 CORD8 Cone-rod dystrophy 8 CORD8 Autosomal recessive 605549 Cone-rod dystrophy 8 2 +611152 Alzheimer disease-13 AD13 max lod D1S498 611152 Alzheimer disease-13 2 +608781 Asperger syndrome, susceptibility to, 3 ASPG3 max lod at D1S484 608781 Asperger syndrome susceptibility 3 2 +605833 Bone mineral density QTL 2 BMND2 605833 Bone mineral density QTL 2 2 +612474 Chromosome 1q21.1 deletion syndrome DEL1q21, C1DELq21 contiguous gene deletion syndrome Autosomal dominant, Isolated cases 612474 Chromosome 1q21.1 deletion syndrome 4 +608372 DFNA49 Deafness, autosomal dominant 49 DFNA49 max lod at D1S3784 and D1S3786 Autosomal dominant 608372 Deafness, autosomal dominant 49 2 +601412 DFNA7 Deafness, autosomal dominant 7 DFNA7 Autosomal dominant 601412 Deafness, autosomal dominant 7 2 +612475 Chromosome 1q21.1 duplication syndrome DUP1q21, C1DUPq21 contiguous gene duplication syndrome Autosomal dominant, Isolated cases 612475 Chromosome 1q21.1 duplication syndrome 4 +613017 Neuroblastoma, susceptibility to, 6 NBLST6 ?contiguous gene deletion or duplication disease 613017 Neuroblastoma, susceptibility to, 6 2 +603935 PSORS4 Psoriasis susceptibility 4 PSORS4 603935 Psoriasis susceptibility 4 2 +605642 Papillary thyroid carcinoma with papillary renal neoplasia PTCPRN, PRN1 605642 Thyroid carcinoma, papillary, with papillary renal neoplasia 2 +161900 Renal failure, progressive, with hypertension RFH1, AORF Autosomal dominant 161900 Nephropathy-hypertension 2 +613145 Systemic lupus erythematosus, susceptibility to, 14 SLEB14 associated with rs3093061 613145 Systemic lupus erythematosus, susceptibility to, 14 2 +614747 Uric acid concentration, serum, quantitative trait locus 6 UAQTL6 associated with C/T variant at chr1_142697422 614747 Uric acid concentration, serum, QTL6 2 +603867 PEX11B Peroxisome biogenesis 11B ENSG00000131779 PEX11B, PEX14B 614920 Peroxisome biogenesis disorder 14B 3 +605313 RBM8A RNA-binding motif protein 8A ENSG00000265241 RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1 pseudogene on chr.14 Autosomal recessive 274000 Thrombocytopenia-absent radius syndrome 3 +608374 HFE2 Hemojuvelin ENSG00000168509 HJV, HFE2A between D1S442 and D1S2347 602390 Hemochromatosis, type 2A 3 +121013 GJA5 Gap junction protein, alpha-5, 40kD (connexin 40) ENSG00000265107 GJA5, CX40, ATFB11 Autosomal dominant 614049 Atrial fibrillation, familial, 11 3 +121013 GJA5 Gap junction protein, alpha-5, 40kD (connexin 40) ENSG00000265107 GJA5, CX40, ATFB11 Autosomal dominant 108770 Atrial standstill, digenic (GJA5/SCN5A) 3 +600897 GJA8 Gap junction membrane channel protein alpha-8 (connexin 50) ENSG00000121634 GJA8, CX50, CTRCT1, CZP1, CAE1 Autosomal dominant 116200 Cataract 1, multiple types 3 +146760 FCGR1A Fc fragment of IgG, high affinity Ia, receptor for (CD64) ENSG00000150337 FCGR1A, IGFR1, CD64 IgG receptor I, phagocytic, familial deficiency of 3 +605593 SF3B4 Splicing factor 3B, subunit 4 ENSG00000143368 SF3B4, SF3B49, SAP49, AFD1 Autosomal dominant 154400 Acrofacial dysostosis 1, Nager type 3 +610035 VPS45 Vacuolar protein sorting 45, yeast, homolog of, A ENSG00000136631 VPS45A, VPS45, SCN5 Autosomal recessive 615285 Neutropenia, severe congenital, 5, autosomal recessive 3 +607301 PRPF3 Precursor mRNA-processing factor 3, S. cerevisiae, homolog of ENSG00000117360 PRPF3, HPRP3, RP18 Autosomal dominant 601414 Retinitis pigmentosa 18 3 +612805 TARS2 Threonyl-tRNA synthetase 2 ENSG00000143374 TARS2, COXPD21 mutation identified in one COXPD21 family Autosomal recessive 615918 ?Combined oxidative phosphorylation deficiency 21 3 +602201 ECM1 Extracellular matrix protein-1 ENSG00000143369 ECM1, URBWD Autosomal recessive 247100 Urbach-Wiethe disease 3 +610113 ADAMTSL4 ADAMTS-like 4 ENSG00000143382 ADAMTSL4, TSRC1, ECTOL2 Autosomal recessive 225200 Ectopia lentis et pupillae 3 +610113 ADAMTSL4 ADAMTS-like 4 ENSG00000143382 ADAMTSL4, TSRC1, ECTOL2 Autosomal recessive 225100 Ectopia lentis, isolated, autosomal recessive 3 +139450 Hair morphology 2 (curly hair) HRM2 associated with rs11803731 Autosomal dominant 139450 Hair, curly 2 +601105 CTSK Cathepsin K ENSG00000143387 CTSK Autosomal recessive 265800 Pycnodysostosis 3 +610568 ZNF687 Zinc finger protein 687 ENSG00000143373 ZNF687, KIAA1441, PDB6 fused with AML1 in t(1;21) Autosomal dominant 616833 Paget disease of bone 6 3 +601863 RFX5 Regulatory factor X, 5 (influences HLA class II expression) ENSG00000143390 RFX5 Autosomal recessive 209920 Bare lymphocyte syndrome, type II, complementation group C 3 +601863 RFX5 Regulatory factor X, 5 (influences HLA class II expression) ENSG00000143390 RFX5 Autosomal recessive 209920 Bare lymphocyte syndrome, type II, complementation group E 3 +614787 POGZ POGO transposable element with ZNF domain ENSG00000143442 POGZ, KIAA0461, MRD37, WHSUS Autosomal dominant 616364 White-Sutton syndrome 3 +602943 RORC RAR-related orphan receptor C ENSG00000143365 RORC, RORG, RZRG, IMD42 Autosomal recessive 616622 Immunodeficiency 42 3 +135940 FLG Filaggrin ENSG00000143631 FLG, ATOD2 605803 Dermatitis, atopic, susceptibility to, 2 3 +135940 FLG Filaggrin ENSG00000143631 FLG, ATOD2 Autosomal dominant 146700 Ichthyosis vulgaris 3 +152445 LOR Loricrin ENSG00000203782 LOR Autosomal dominant 604117 Vohwinkel syndrome with ichthyosis 3 +614998 GATAD2B GATA zinc finger domain-containing protein 2B ENSG00000261992 GATAD2B, KIAA1150, p68, MRD18 Autosomal dominant 615074 Mental retardation, autosomal dominant 18 3 +191030 TPM3 Tropomyosin 3 ENSG00000143549 TPM3, NEM1, CFTD, CAPM1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd Autosomal recessive, Autosomal dominant 609284 CAP myopathy 1 3 +191030 TPM3 Tropomyosin 3 ENSG00000143549 TPM3, NEM1, CFTD, CAPM1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd Autosomal recessive, Autosomal dominant 255310 Myopathy, congenital, with fiber-type disproportion 3 +191030 TPM3 Tropomyosin 3 ENSG00000143549 TPM3, NEM1, CFTD, CAPM1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd Autosomal recessive, Autosomal dominant 609284 Nemaline myopathy 1, autosomal dominant or recessive 3 +605998 HAX1 HCLS1-associated protein X1 ENSG00000143575 HAX1, SCN3 Autosomal recessive 610738 Neutropenia, severe congenital 3, autosomal recessive 3 +147880 IL6R Interleukin-6 receptor ENSG00000160712 IL6R, IL6RQ, IL6Q IL6R-like gene on chr.9 614752 Interleukin 6, serum level of, QTL 3 +147880 IL6R Interleukin-6 receptor ENSG00000160712 IL6R, IL6RQ, IL6Q IL6R-like gene on chr.9 614689 Interleukin-6 receptor, soluble, serum level of, QTL 3 +118507 CHRNB2 Cholinergic receptor, nicotinic, beta polypeptide-2 ENSG00000160716 CHRNB2, EFNL3 linked to AMY in mouse 605375 Epilepsy, nocturnal frontal lobe, 3 3 +146920 ADAR Adenosine deaminase, RNA-specific ENSG00000160710 ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6 Autosomal recessive 615010 Aicardi-Goutieres syndrome 6 3 +146920 ADAR Adenosine deaminase, RNA-specific ENSG00000160710 ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6 Autosomal dominant 127400 Dyschromatosis symmetrica hereditaria 3 +607622 PMVK Phosphomevalonate kinase ENSG00000163344 PMVK, PMK, POROK1 Autosomal dominant 175800 Porokeratosis 1, multiple types 3 +610595 FLAD1 Flavin adenine dinucleotide synthetase, S. cerevisiae, homolog of ENSG00000160688 FLAD1, FADS, LSMFLAD Autosomal recessive 255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 3 +605951 DPM3 Dolichyl-phosphate mannosyltransferase 3 ENSG00000179085 DPM3, CDG1O 612937 Congenital disorder of glycosylation, type Io 3 +158340 MUC1 Mucin 1, transmembrane ENSG00000185499 MUC1, PUM, MCKD1 5cM proximal to SPTA1 Autosomal dominant 174000 Medullary cystic kidney disease 1 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal recessive 608013 Gaucher disease, perinatal lethal 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal recessive 230800 Gaucher disease, type I 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal recessive 230900 Gaucher disease, type II 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal recessive 231000 Gaucher disease, type III 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal recessive 231005 Gaucher disease, type IIIC 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Autosomal dominant 127750 Lewy body dementia, susceptibility to 3 +606463 GBA Glucosidase, acid beta ENSG00000262446 GBA pseudogene GBAP ~16kb 3' to GBA Isolated cases, Multifactorial 168600 Parkinson disease, late-onset, susceptibility to 3 +609712 PKLR Pyruvate kinase, liver and RBC type ENSG00000143627 PKLR, PK1 Autosomal dominant 102900 Adenosine triphosphate, elevated, of erythrocytes 3 +609712 PKLR Pyruvate kinase, liver and RBC type ENSG00000143627 PKLR, PK1 Autosomal recessive 266200 Pyruvate kinase deficiency 3 +134629 FDPS Farnesyl diphosphate synthase ENSG00000160752 FDPS, FPS, POROK9 616631 Porokeratosis 9, multiple types 3 +609591 RIT1 Ric-like protein without CAAX motif 1 ENSG00000143622 RIT1, RIT, ROC1, NS8 Autosomal dominant 615355 Noonan syndrome 8 3 +610389 LAMTOR2 Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ENSG00000116586 LAMTOR2, MAPBPIP, p14 Autosomal recessive 610798 Immunodeficiency due to defect in MAPBP-interacting protein 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 115200 Cardiomyopathy, dilated, 1A 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal recessive 605588 Charcot-Marie-Tooth disease, type 2B1 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 181350 Emery-Dreifuss muscular dystrophy 2, AD 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal recessive 616516 Emery-Dreifuss muscular dystrophy 3, AR 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 610140 Heart-hand syndrome, Slovenian type 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal recessive, Autosomal dominant 176670 Hutchinson-Gilford progeria 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 151660 Lipodystrophy, familial partial, type 2 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 212112 Malouf syndrome 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal recessive 248370 Mandibuloacral dysplasia 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 613205 Muscular dystrophy, congenital 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal dominant 159001 Muscular dystrophy, limb-girdle, type 1B 3 +150330 LMNA Lamin A/C ENSG00000160789 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B Autosomal recessive 275210 Restrictive dermopathy, lethal 3 +607292 SEMA4A Semaphorin 4A ENSG00000196189 SEMA4A, SEMB, RP35, CORD10 Autosomal recessive 610283 Cone-rod dystrophy 10 3 +607292 SEMA4A Semaphorin 4A ENSG00000196189 SEMA4A, SEMB, RP35, CORD10 Autosomal recessive, Autosomal dominant 610282 Retinitis pigmentosa 35 3 +605913 Bleeding disorder, east Texas type BDET 605913 Bleeding disorder, east Texas type 2 +609266 Li-Fraumeni syndrome 3 LFS3 609266 Li-Fraumeni syndrome 3 2 +179755 PRCC Papillary renal cell carcinoma, translocation-associated ENSG00000143294 PRCC, RCCP1 t(X;1)(p11;q21); fuses with TFE3 in RCCP 605074 Renal cell carcinoma, papillary 3 +191315 NTRK1 Neurotrophic tyrosine kinase, receptor, type 1 ENSG00000198400 NTRK1, TRKA, MTC TRK = chimera of TPM3 and NTRK1 Autosomal recessive 256800 Insensitivity to pain, congenital, with anhidrosis 3 +191315 NTRK1 Neurotrophic tyrosine kinase, receptor, type 1 ENSG00000198400 NTRK1, TRKA, MTC TRK = chimera of TPM3 and NTRK1 Autosomal dominant 155240 Medullary thyroid carcinoma, familial 3 +182860 SPTA1 Spectrin, alpha, erythrocytic-1 ENSG00000163554 SPTA1, EL2, SPH3, HS3, HPP 17cM proximal to FY Autosomal dominant 130600 Elliptocytosis-2 3 +182860 SPTA1 Spectrin, alpha, erythrocytic-1 ENSG00000163554 SPTA1, EL2, SPH3, HS3, HPP 17cM proximal to FY Autosomal recessive 266140 Pyropoikilocytosis 3 +182860 SPTA1 Spectrin, alpha, erythrocytic-1 ENSG00000163554 SPTA1, EL2, SPH3, HS3, HPP 17cM proximal to FY Autosomal recessive 270970 Spherocytosis, type 3 3 +613665 ACKR1 Duffy antigen receptor for chemokines (glycoprotein D) ENSG00000213088 DARC, FY, GPD, WBCQ1 by A, 1q22-q23 Autosomal dominant 110700 Blood group, Duffy system 3 +613665 ACKR1 Duffy antigen receptor for chemokines (glycoprotein D) ENSG00000213088 DARC, FY, GPD, WBCQ1 by A, 1q22-q23 611162 Malaria, vivax, protection against 3 +613665 ACKR1 Duffy antigen receptor for chemokines (glycoprotein D) ENSG00000213088 DARC, FY, GPD, WBCQ1 by A, 1q22-q23 611862 White blood cell count QTL 3 +104770 APCS Amyloid P component, serum ENSG00000132703 APCS, SAP probably close to CRP ?Amyloidosis, secondary, susceptibility to 1 +610273 PIGM Phosphatidylinositol glycan, class M ENSG00000143315 PIGM Autosomal recessive 610293 Glycosylphosphatidylinositol deficiency 3 +602208 KCNJ10 Potassium inwardly-rectifying channel, subfamily J, member 10 ENSG00000177807 KCNJ10, SESAME Autosomal recessive 600791 Enlarged vestibular aqueduct, digenic 3 +602208 KCNJ10 Potassium inwardly-rectifying channel, subfamily J, member 10 ENSG00000177807 KCNJ10, SESAME Autosomal recessive 612780 SESAME syndrome 3 +182340 ATP1A2 ATPase, Na+K+ transporting, alpha-2 polypeptide ENSG00000018625 ATP1A2, FHM2, MHP2 Autosomal dominant 104290 Alternating hemiplegia of childhood 3 +182340 ATP1A2 ATPase, Na+K+ transporting, alpha-2 polypeptide ENSG00000018625 ATP1A2, FHM2, MHP2 Autosomal dominant 602481 Migraine, familial basilar 3 +182340 ATP1A2 ATPase, Na+K+ transporting, alpha-2 polypeptide ENSG00000018625 ATP1A2, FHM2, MHP2 Autosomal dominant 602481 Migraine, familial hemiplegic, 2 3 +114250 CASQ1 Calsequestrin, fast-twitch, skeletal muscle-1 ENSG00000143318 CASQ1, VMCQA Autosomal dominant 616231 Myopathy, vacuolar, with CASQ1 aggregates 3 +615820 DCAF8 DDB1- and CUL4-associated factor 8 ENSG00000132716 DCAF8, WDR42A, GAN2 mutation identified in 1 GAN2 family Autosomal dominant 610100 ?Giant axonal neuropathy 2, autosomal dominant 3 +600279 PEX19 Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein) ENSG00000162735 PEX19, PXF, HK33, D1S2223E, PBD12A 614886 Peroxisome biogenesis disorder 12A (Zellweger) 3 +601924 COPA Coatomer protein complex, subunit alpha ENSG00000122218 COPA, AILJK Autosomal dominant 616414 Autoimmune interstitial lung, joint, and kidney disease 3 +605254 NCSTN Nicastrin ENSG00000162736 NCSTN Autosomal dominant 142690 Acne inversa, familial, 1 3 +600533 VANGL2 Vang-like 2 (loop-tail, mouse, homolog of) ENSG00000162738 VANGL2, LTAP Autosomal dominant 182940 Neural tube defects 3 +610141 QT interval, variation in QTV associated with rs12143842 610141 QT interval, variation in 2 +605554 CD244 CD244 antigen ENSG00000122223 CD244, NAIL, NKR2B4, SLAMF4 180300 Rheumatoid arthritis, susceptibility to 3 +191523 USF1 Upstream stimulatory factor-1 ENSG00000158773 USF1, HYPLIP1 602491 Hyperlipidemia, familial combined, susceptibility to 3 +609607 NECTIN4 Poliovirus receptor-like 4 ENSG00000143217 PVRL4, PRR4, EDSS1 613573 Ectodermal dysplasia-syndactyly syndrome 1 3 +600923 PPOX Protoporphyrinogen oxidase ENSG00000143224 PPOX Autosomal dominant 176200 Porphyria variegata 3 +602985 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kD ENSG00000158864 NDUFS2 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +107670 APOA2 Apolipoprotein A-II ENSG00000158874 APOA2 Apolipoprotein A-II deficiency 3 +107670 APOA2 Apolipoprotein A-II ENSG00000158874 APOA2 Autosomal dominant 143890 Hypercholesterolemia, familial, modifier of 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal dominant 607791 Charcot-Marie-Tooth disease, dominant intermediate D 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal dominant 118200 Charcot-Marie-Tooth disease, type 1B 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal dominant 607677 Charcot-Marie-Tooth disease, type 2I 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal dominant 607736 Charcot-Marie-Tooth disease, type 2J 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal recessive, Autosomal dominant 145900 Dejerine-Sottas disease 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal recessive, Autosomal dominant 605253 Neuropathy, congenital hypomyelinating 3 +159440 MPZ Myelin protein zero ENSG00000158887 MPZ, CMT1B, CMTDID, CHM, DSS Autosomal dominant 180800 Roussy-Levy syndrome 3 +602413 SDHC Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD ENSG00000143252 SDHC, PGL3 Autosomal dominant, Isolated cases 606764 Gastrointestinal stromal tumor 3 +602413 SDHC Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD ENSG00000143252 SDHC, PGL3 606864 Paraganglioma and gastric stromal sarcoma 3 +602413 SDHC Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD ENSG00000143252 SDHC, PGL3 Autosomal dominant 605373 Paragangliomas 3 3 +146790 FCGR2A Fc fragment of IgG, low affinity IIa, receptor for (CD32) ENSG00000143226 FCGR2A, IGFR2, CD32 FCG2 and FCG3 within 250kb Autosomal dominant 152700 Lupus nephritis, susceptibility to 3 +146790 FCGR2A Fc fragment of IgG, low affinity IIa, receptor for (CD32) ENSG00000143226 FCGR2A, IGFR2, CD32 FCG2 and FCG3 within 250kb 611162 Malaria, severe, susceptibility to 3 +146790 FCGR2A Fc fragment of IgG, low affinity IIa, receptor for (CD32) ENSG00000143226 FCGR2A, IGFR2, CD32 FCG2 and FCG3 within 250kb Autosomal recessive 219700 Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 3 +146740 FCGR3A Fc fragment of IgG, low affinity III, receptor for (CD16) ENSG00000203747 FCGR3A, CD16, IGFR3, IMD20 FCGR2A and FCGR3A within 250kb antigen Autosomal recessive 615707 Immunodeficiency 20 3 +612169 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for ENSG00000143226 FCGR2C, CD32C Autosomal dominant 188030 Thrombocytopenic purpura, autoimmune 1 +610665 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor for ENSG00000162747 FCGR3B Neutropenia, alloimmune neonatal 3 +604590 FCGR2B Fc fragment of IgG, low affinity IIb, receptor for ENSG00000072694 FCGR2B, CD32 611162 Malaria, resistance to 3 +604590 FCGR2B Fc fragment of IgG, low affinity IIb, receptor for ENSG00000072694 FCGR2B, CD32 Autosomal dominant 152700 Systemic lupus erythematosus, susceptibility to 3 +605537 ATF6 Activating transcription factor-6 ENSG00000118217 ATF6, ACHM7 Autosomal recessive 616517 Achromatopsia 7 3 +191311 DDR2 Discoidin domain receptor family, member 2 ENSG00000162733 DDR2, NTRKR3, TKT Autosomal recessive 271665 Spondylometaepiphyseal dysplasia, short limb-hand type 3 +603276 RGS5 Regulator of G protein signaling-5 ENSG00000232995 RGS5 Multifactorial 145500 Blood pressure regulation QTL 2 +176310 PBX1 Pre-B cell leukemia transcription factor-1 ENSG00000185630 PBX1 t(1;19); pseudogene PBXP1 on chr.3 176310 Leukemia, acute pre-B-cell 2 +605429 DFNM1 Deafness, nonsyndromic, modifier 1 DFNM1 605429 Deafness, nonsyndromic, modifier 1 2 +270750 SPG23 Spastic paraplegia 23 SPG23 max lod at D1S2692 Autosomal recessive 270750 Spastic paraplegia 23 2 +614123 TMCO1 Transmembrane and coiled-coil domains protein 1 ENSG00000143183 TMCO1, CFSMR Autosomal recessive 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 3 +186780 CD247 CD247 antigen ENSG00000198821 CD247, CD3Z, TCRZ, IMD25 mutation identified in one IMD25 patient Autosomal recessive 610163 ?Immunodeficiency 25 3 +605205 ADCY10 Adenylyl cyclase 10, soluble ENSG00000143199 ADCY10, SAC, HCA2 Autosomal dominant 143870 Hypercalciuria, absorptive, susceptibility to 3 +604614 TBX19 T-box 19 ENSG00000143178 TBX19 Autosomal recessive 201400 Adrenocorticotropic hormone deficiency 3 +182330 ATP1B1 ATPase, Na+K+ transporting, beta-1 polypeptide ENSG00000143153 ATP1B1 Multifactorial 145500 Blood pressure regulation QTL 2 +603941 SLC19A2 Solute carrier family 19 (thiamine transporter), member 2 ENSG00000117479 SLC19A2, THTR1, TRMA, THMD1 Autosomal recessive 249270 Thiamine-responsive megaloblastic anemia syndrome 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Autosomal recessive 600880 Budd-Chiari syndrome 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Autosomal recessive 227400 Factor V deficiency 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Autosomal dominant 614389 Pregnancy loss, recurrent, susceptibility to, 1 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Multifactorial 601367 Stroke, ischemic, susceptibility to 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Autosomal dominant 188055 Thrombophilia due to activated protein C resistance 3 +612309 F5 Coagulation factor V (proaccelerin, labile factor) ENSG00000198734 F5, THPH2, RPRGL1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment Autosomal dominant 188055 Thrombophilia, susceptibility to, due to factor V Leiden 3 +173610 SELP Selectin P (granulocyte membrane protein, 140kD; antigen CD62) ENSG00000174175 SELP, GRMP in same 300kb segment as LYAM1, ELAM1 Autosomal dominant 147050 Atopy, susceptibility to 3 +131210 SELE Selectin E (endothelial leukocyte adhesion molecule-1) ENSG00000007908 SELE, ELAM1 Multifactorial 145500 Blood pressure regulation QTL 2 +607983 GORAB Golgin, RAB6-interacting ENSG00000120370 GORAB, SCYL1BP1, NTKLBP1, GO Autosomal recessive 231070 Geroderma osteodysplasticum 3 +167420 PRRX1 Paired-related homeobox gene 1 ENSG00000116132 PRRX1, PMX1, PHOX1, AGOTC Autosomal recessive, Autosomal dominant 202650 Agnathia-otocephaly complex 3 +136132 FMO3 Flavin-containing monooxygenase 3 ENSG00000007933 FMO3, TMAU Autosomal recessive 602079 Trimethylaminuria 3 +601652 MYOC Myocilin (trabecular meshwork-induced glucocorticoid response protein) ENSG00000034971 MYOC, TIGR, GLC1A, JOAG, GPOA Autosomal dominant 137750 Glaucoma 1A, primary open angle 3 +134638 FASLG Fas ligand (TNF superfamily, member 6) ENSG00000117560 FASLG, TNFSF6, APT1LG1, FASL, ALPS1B Autosomal dominant 601859 Autoimmune lymphoproliferative syndrome, type IB 3 +134638 FASLG Fas ligand (TNF superfamily, member 6) ENSG00000117560 FASLG, TNFSF6, APT1LG1, FASL, ALPS1B Autosomal recessive 211980 Lung cancer, susceptibility to 3 +611154 Alzheimer disease 14 AD14 max lod at D1S218 611154 Alzheimer disease-14 2 +608526 Periodontitis, aggressive, 2 PDON2 between D1S196 and D1S533 608526 Periodontitis, aggressive, 2 2 +603594 TNFSF4 Tumor necrosis factor ligand superfamily, member 4 ENSG00000117586 TNFSF4, GP34, OX4OL 608446 Myocardial infarction, susceptibility to 3 +610956 DARS2 Aspartyl-tRNA synthetase 2 ENSG00000117593 DARS2, ASPRS. LBSL Autosomal recessive 611105 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 3 +107300 SERPINC1 Antithrombin III ENSG00000117601 SERPINC1, AT3, AT3D, THPH7 ~17cM distal to FY Autosomal recessive, Autosomal dominant 613118 Thrombophilia due to antithrombin III deficiency 3 +164690 ABL2 Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg, Abelson-related gene) ENSG00000143322 ABL2, ABLL, ARG fused with ETV6 in AML Leukemia, acute myeloid, with eosinophilia 1 +604766 NPHS2 Podocin ENSG00000116218 PDCN, NPHS2, SRN1 modifies phenotype of NPHS1 mutations to FSGS Autosomal recessive 600995 Nephrotic syndrome, type 2 3 +614512 TOR1AIP1 Torsin A-interacting protein 1 ENSG00000143337 TOR1AIP1, LAP1, LAP1B, LGMD2Y mutation identified in 1 LGMD2Y family Autosomal recessive 617072 ?Muscular dystrophy, limb-girdle, type 2Y 3 +602146 LHX4 LIM homeo box gene 4 ENSG00000121454 LHX4, CPHD4 fused to IGH in ALL Autosomal dominant 262700 Pituitary hormone deficiency, combined, 4 3 +605237 XPR1 Xenotropic and polytropic retrovirus receptor ENSG00000143324 XPR1, SYG1, IBGC6 Autosomal dominant 616413 Basal ganglia calcification, idiopathic, 6 3 +138290 GLUL Glutamate-ammonia ligase (glutamine synthase) ENSG00000135821 GLUL, GLNS pseudogene on chr.9 Autosomal recessive 610015 Glutamine deficiency, congenital 3 +180435 RNASEL Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) ENSG00000135828 RNASEL, RNS4, PRCA1, HPC1 Autosomal dominant 601518 Prostate cancer 1 3 +150292 LAMC2 Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD) ENSG00000058085 LAMC2, LAMNB2, LAMB2T Autosomal recessive 226700 Epidermolysis bullosa, junctional, Herlitz type 3 +150292 LAMC2 Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD) ENSG00000058085 LAMC2, LAMNB2, LAMB2T Autosomal recessive 226650 Epidermolysis bullosa, junctional, non-Herlitz type 3 +608515 NCF2 Neutrophil cytosolic factor-2, 65kD ENSG00000116701 NCF2 Autosomal recessive 233710 Chronic granulomatous disease due to deficiency of NCF-2 3 +608756 TSEN15 tRNA splicing endonuclease 15, S. cerevisiae, homolog of ENSG00000198860 TSEN15, SEN15, C1orf19, PCH2F 617026 Pontocerebellar hypoplasia, type 2F 3 +608548 HMCN1 Hemicentin (fibulin 6) ENSG00000143341 HMCN1, FBLN6, FIBL6, ARMD1 Autosomal dominant 603075 Macular degeneration, age-related, 1 3 +120502 Branchiootic syndrome 2 BOS2 Autosomal dominant 120502 Branchiootic syndrome 2 2 +612005 Celiac disease, susceptibility to, 7 CELIAC7 associated with rs2816316 612005 Celiac disease, susceptibility to, 7 2 +607516 Migraine, several forms MGR6, FHM3 Autosomal dominant 607516 Migraine with or without aura, susceptibility to, 6 2 +607516 Migraine, several forms MGR6, FHM3 Autosomal dominant 607516 Migraine, familial hemiplegic, 4 2 +145260 Pseudohypoaldosteronism type IIA PHA2A, PHA2 Autosomal dominant 145260 Pseudohypoaldosteronism, type IIA 2 +609454 Supranuclear palsy, progressive, 2 PSNP2 between D1S238 and D1S2823 Autosomal dominant 609454 Supranuclear palsy, progressive, 2 2 +176780 Pelvic organ prolapse, susceptibility to, 1 PVOP1 associated with rs10911193 Autosomal dominant 176780 Pelvic organ prolapse, susceptibility to, 1 2 +604283 PRG4 Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin) ENSG00000116690 PRG4, CACP, MSF, SZP, HAPO Autosomal recessive 208250 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 3 +600522 PLA2G4A Phospholipase A2, group IVA, cytosolic ENSG00000116711 PLA2G4A, PLA2G4 Phospholipase A2, group IV A, deficiency of 3 +607393 CDC73 Parafibromin ENSG00000134371 HRPT2, C1orf28 Autosomal dominant 145000 Hyperparathyroidism, familial primary 3 +607393 CDC73 Parafibromin ENSG00000134371 HRPT2, C1orf28 Autosomal dominant 145001 Hyperparathyroidism-jaw tumor syndrome 3 +607393 CDC73 Parafibromin ENSG00000134371 HRPT2, C1orf28 Autosomal dominant 145001 Parathyroid adenoma with cystic changes 3 +607393 CDC73 Parafibromin ENSG00000134371 HRPT2, C1orf28 608266 Parathyroid carcinoma 3 +614826 Nystagmus 7, congenital, autosomal dominant NYS7 between D1S218 and D1S2655 Autosomal dominant 614826 Nystagmus 7, congenital, autosomal dominant 2 +134370 CFH Complement factor H ENSG00000000971 CFH, HF1, HUS, ARMD4, AHUS1 Autosomal dominant 126700 Basal laminar drusen 3 +134370 CFH Complement factor H ENSG00000000971 CFH, HF1, HUS, ARMD4, AHUS1 Autosomal recessive, Autosomal dominant 609814 Complement factor H deficiency 3 +134370 CFH Complement factor H ENSG00000000971 CFH, HF1, HUS, ARMD4, AHUS1 Autosomal recessive, Autosomal dominant 235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 3 +134370 CFH Complement factor H ENSG00000000971 CFH, HF1, HUS, ARMD4, AHUS1 610698 Macular degeneration, age-related, 4 3 +605336 CFHR3 Complement factor H-related 3 ENSG00000116785 CFHR3, FHR3, HLF4, CFHL3 Autosomal recessive, Autosomal dominant 235400 Hemolytic uremic syndrome, atypical, susceptibility to 3 +605336 CFHR3 Complement factor H-related 3 ENSG00000116785 CFHR3, FHR3, HLF4, CFHL3 Autosomal dominant 603075 Macular degeneration, age-related, reduced risk of 3 +134371 CFHR1 Complement factor H-related 1 ENSG00000244414 CFHR1, FHR1, HFL1, CFHL1 Autosomal recessive, Autosomal dominant 235400 Hemolytic uremic syndrome, atypical, susceptibility to 3 +134371 CFHR1 Complement factor H-related 1 ENSG00000244414 CFHR1, FHR1, HFL1, CFHL1 Autosomal dominant 603075 Macular degeneration, age-related, reduced risk of 3 +608593 CFHR5 Complement factor H-related 5 ENSG00000134389 CFHR5, CFHL5, FHR5, CFHR5D Autosomal dominant 614809 Nephropathy due to CFHR5 deficiency 3 +134580 F13B Coagulation factor XIII, B polypeptide ENSG00000143278 F13B Autosomal recessive 613235 Factor XIIIB deficiency 3 +605481 ASPM Abnormal spindle-like, microcephaly-associated ENSG00000066279 ASPM, MCPH5 Autosomal recessive 608716 Microcephaly 5, primary, autosomal recessive 3 +604210 CRB1 Crumbs, Drosophila, homolog of, 1 ENSG00000134376 CRB1, RP12, LCA8 613835 Leber congenital amaurosis 8 3 +604210 CRB1 Crumbs, Drosophila, homolog of, 1 ENSG00000134376 CRB1, RP12, LCA8 Autosomal dominant 172870 Pigmented paravenous chorioretinal atrophy 3 +604210 CRB1 Crumbs, Drosophila, homolog of, 1 ENSG00000134376 CRB1, RP12, LCA8 Autosomal recessive 600105 Retinitis pigmentosa-12, autosomal recessive 3 +151460 PTPRC Protein tyrosine phosphatase, receptor type, c polypeptide ENSG00000262418 PTPRC, CD45, LCA 609532 Hepatitic C virus, susceptibility to 3 +151460 PTPRC Protein tyrosine phosphatase, receptor type, c polypeptide ENSG00000262418 PTPRC, CD45, LCA Autosomal recessive 608971 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 3 +137950 Glomerulopathy with fibronectin deposits 1 GFND1 max lod at D1S2782 Autosomal dominant 137950 Glomerulopathy with fibronectin deposits 1 2 +612381 Inflammatory bowel disease 23 IBD23 associated with rs3024505 612381 Inflammatory bowel disease 23 2 +613164 PARK16 Parkinson disease 16 PARK16 associated with rs823128 613164 Parkinson disease 16 2 +140400 Progressive familial heart block, type II PFHB2 between D1S70 and D1S505 Autosomal dominant 140400 Progressive familial heart block, type II 2 +611279 KIF14 Kinesin family member 14 ENSG00000118193 KIF14, KIAA0042, MKS12 mutation identified in 1 MKS12 family Autosomal recessive 616258 ?Meckel syndrome 12 3 +615464 DDX59 DEAD box polypeptide 59 ENSG00000118197 DDX59, OFD5 Autosomal recessive 174300 Orofaciodigital syndrome V 3 +114208 CACNA1S Calcium channel, voltage-dependent, L type, alpha 1S subunit ENSG00000081248 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 in mouse, mutation causes muscular dysgenesis Autosomal dominant 170400 Hypokalemic periodic paralysis, type 1 3 +114208 CACNA1S Calcium channel, voltage-dependent, L type, alpha 1S subunit ENSG00000081248 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 in mouse, mutation causes muscular dysgenesis 601887 Malignant hyperthermia susceptibility 5 3 +114208 CACNA1S Calcium channel, voltage-dependent, L type, alpha 1S subunit ENSG00000081248 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1 in mouse, mutation causes muscular dysgenesis Isolated cases 188580 Thyrotoxic periodic paralysis, susceptibility to, 1 3 +601975 PKP1 Plakophilin-1 ENSG00000081277 PKP1 604536 Ectodermal dysplasia/skin fragility syndrome 3 +191045 TNNT2 Troponin-T2, cardiac ENSG00000118194 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Autosomal dominant 601494 Cardiomyopathy, dilated, 1D 3 +191045 TNNT2 Troponin-T2, cardiac ENSG00000118194 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Autosomal dominant 612422 Cardiomyopathy, familial restrictive, 3 3 +191045 TNNT2 Troponin-T2, cardiac ENSG00000118194 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Autosomal dominant 115195 Cardiomyopathy, hypertrophic, 2 3 +191045 TNNT2 Troponin-T2, cardiac ENSG00000118194 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Autosomal dominant 601494 Left ventricular noncompaction 6 3 +610538 UBE2T Ubiquitin-conjugating enzyme E2T ENSG00000077152 UBE2T, HSPC150, FANCT Autosomal recessive 616435 Fanconi anemia, complementation group T 3 +600104 SYT2 Synaptotagmin-2 ENSG00000143858 SYT2, CMS7, MYSPC Autosomal dominant 616040 Myasthenic syndrome, congenital, 7, presynaptic 3 +601525 CHI3L1 Chitinase 3-like 1 (cartilage glycoprotein-39) ENSG00000133048 CHI3L1, GP39, YKL40, ASRT7 611960 Asthma-related traits, susceptibility to, 7 3 +601525 CHI3L1 Chitinase 3-like 1 (cartilage glycoprotein-39) ENSG00000133048 CHI3L1, GP39, YKL40, ASRT7 Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +600031 CHIT1 Chitotriosidase ENSG00000133063 CHIT, CHITD Autosomal recessive 614122 Chitotriosidase deficiency 3 +128260 SNRPE Small nuclear ribonucleoprotein polypeptide E ENSG00000182004 SNRPE, HYPT11 Autosomal dominant 615059 Hypotrichosis 11 3 +179820 REN Renin ENSG00000143839 REN, HNFJ2 ~24cM distal to AT3 Hyperproreninemia 3 +179820 REN Renin ENSG00000143839 REN, HNFJ2 ~24cM distal to AT3 Autosomal dominant 613092 Hyperuricemic nephropathy, familial juvenile 2 3 +179820 REN Renin ENSG00000143839 REN, HNFJ2 ~24cM distal to AT3 Autosomal recessive 267430 Renal tubular dysgenesis 3 +603286 KISS1 KISS1 metastasis suppressor ENSG00000170498 KISS1, HH13 mutation identified in 1 HH13 family Autosomal recessive 614842 ?Hypogonadotropic hypogonadism 13 with or without anosmia 3 +613257 PPP1R15B Protein phosphatase 1, regulatory subunit 15B ENSG00000158615 PPP1R15B, CREP, MSSGM2 Autosomal recessive 616817 Microcephaly, short stature, and impaired glucose metabolism 2 3 +190197 CNTN2 Contactin 2 (transiently-expressed axonal glycoprotein) ENSG00000184144 CNTN2, TAX, TAX1, FAME5 1 family identified with mutation Autosomal recessive 615400 ?Epilepsy, myoclonic, familial adult, 5 3 +612666 DSTYK Dual serine/threonine and tyrosine protein kinase ENSG00000133059 DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1 Autosomal dominant 610805 Congenital anomalies of kidney and urinary tract, susceptibility to 3 +124092 IL10 Interleukin-10 ENSG00000136634 IL10, CSIF, GVHDS 614395 Graft-versus-host disease, protection against 3 +124092 IL10 Interleukin-10 ENSG00000136634 IL10, CSIF, GVHDS 609423 HIV-1, susceptibility to 3 +124092 IL10 Interleukin-10 ENSG00000136634 IL10, CSIF, GVHDS 180300 Rheumatoid arthritis, progression of 3 +125240 CD55 CD55 antigen (blood group Cromer) ENSG00000196352 CD55, DAF, CROM 613793 Blood group Cromer 3 +120650 CR2 Complement component (3d/Epstein-Barr virus) receptor-2 ENSG00000117322 CR2, C3DR, SLEB9, CVID7 Autosomal recessive 614699 Immunodeficiency, common variable, 7 3 +120650 CR2 Complement component (3d/Epstein-Barr virus) receptor-2 ENSG00000117322 CR2, C3DR, SLEB9, CVID7 610927 Systemic lupus erythematosus, susceptibility to, 9 3 +120620 CR1 Complement component (3b/4b) receptor-1 ENSG00000203710 CR1, C3BR 607486 Blood group, Knops system 3 +120620 CR1 Complement component (3b/4b) receptor-1 ENSG00000203710 CR1, C3BR CR1 deficiency 1 +120620 CR1 Complement component (3b/4b) receptor-1 ENSG00000203710 CR1, C3BR 611162 Malaria, severe, resistance to 3 +120620 CR1 Complement component (3b/4b) receptor-1 ENSG00000203710 CR1, C3BR ?SLE susceptibility 1 +120920 CD46 Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen) ENSG00000117335 MCP, CD46, AHUS2 Autosomal recessive, Autosomal dominant 612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2 3 +150310 LAMB3 Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) ENSG00000196878 LAMB3, AI1A Autosomal dominant 104530 Amelogenesis imperfecta, type IA 3 +150310 LAMB3 Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) ENSG00000196878 LAMB3, AI1A Autosomal recessive 226700 Epidermolysis bullosa, junctional, Herlitz type 3 +150310 LAMB3 Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) ENSG00000196878 LAMB3, AI1A Autosomal recessive 226650 Epidermolysis bullosa, junctional, non-Herlitz type 3 +600713 HSD11B1 Hydroxysteroid, 11-beta, dehydrogenase 1 ENSG00000117594 HSD11B1, HSD11, HSD11L, CORTRD2 digenic triallelic mutations with H6PD Autosomal dominant 614662 Cortisone reductase deficiency 2 3 +607199 IRF6 Interferon regulatory factor 6 ENSG00000117595 IRF6, VWS, LPS, PIT, PPS1, OFC6 OFC6 in enhancer 5' of IRF6 Isolated cases 608864 Orofacial cleft 6 3 +607199 IRF6 Interferon regulatory factor 6 ENSG00000117595 IRF6, VWS, LPS, PIT, PPS1, OFC6 OFC6 in enhancer 5' of IRF6 Autosomal dominant 119500 Popliteal pterygium syndrome 1 3 +607199 IRF6 Interferon regulatory factor 6 ENSG00000117595 IRF6, VWS, LPS, PIT, PPS1, OFC6 OFC6 in enhancer 5' of IRF6 Autosomal dominant 119300 van der Woude syndrome 3 +610949 SYT14 Synaptotagmin 14 ENSG00000143469 SYT14, SCAR11 Autosomal recessive 614229 Spinocerebellar ataxia, autosomal recessive 11 3 +603305 KCNH1 Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of) ENSG00000143473 KCNH1, EAG, TMBTS, ZLS1 Autosomal dominant 611816 Temple-Baraitser syndrome 3 +603305 KCNH1 Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of) ENSG00000143473 KCNH1, EAG, TMBTS, ZLS1 Autosomal dominant 135500 Zimmermann-Laband syndrome 1 3 +180040 RD3 Retinal degeneration 3, mouse, homolog of ENSG00000198570 RD3, LCA12, C1orf36 Autosomal recessive 610612 Leber congenital amaurosis 12 3 +604043 NEK2 Never in mitosis gene a-related kinase 2 ENSG00000117650 NEK2, RP67 pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family Autosomal recessive 615565 ?Retinitis pigmentosa 67 3 +609144 FLVCR1 Feline leukemia virus subgroup C receptor 1 ENSG00000162769 FLVCR1, AXPC1, PCARP Autosomal recessive 609033 Ataxia, posterior column, with retinitis pigmentosa 3 +603155 PTPN14 Protein tyrosine phosphatase, nonreceptor-type, 14 ENSG00000152104 PTPN14, PEZ Autosomal recessive 613611 Choanal atresia and lymphedema 3 +610836 Autism, susceptibility to, 11 AUTS11 associated with rs12740310, rs3737296, and rs12310279 610836 Autism susceptibility 11 2 +612530 Chromosome 1q41-q42 deletion syndrome DEL1q41q42, C1DELq41q42 contiguous gene deletion of 1.7Mb Isolated cases 612530 Chromosome 1q41-q42 deletion syndrome 4 +615589 OTSC10 Otosclerosis 10 OTSC10 Autosomal dominant 615589 Otosclerosis 10 2 +600332 RMD1 Rippling muscle disease 1 RMD1 Autosomal dominant 600332 Rippling muscle disease-1 2 +600236 CENPF Centromere autoantigen F, 400kD ENSG00000117724 CENPF, CILD31, STROMS Autosomal recessive 243605 Stromme syndrome 3 +608400 USH2A Usherin ENSG00000042781 USH2A, RP39 613809 Retinitis pigmentosa 39 3 +608400 USH2A Usherin ENSG00000042781 USH2A, RP39 Autosomal recessive 276901 Usher syndrome, type 2A 3 +190220 TGFB2 Transforming growth factor, beta-2 ENSG00000092969 TGFB2, LDS4 Autosomal dominant 614816 Loeys-Dietz syndrome 4 3 +611146 SLC30A10 Solute carrier family 30 (zinc transporter), member 10 ENSG00000196660 SLC30A10, ZNT10, HMNDYT1 Autosomal recessive 613280 Hypermanganesemia with dystonia 1 3 +612801 IARS2 Isoleucyl-tRNA synthetase 2 ENSG00000067704 IARS2, CAGSSS mutation identified in 1 CAGSSS family Autosomal recessive 616007 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 3 +609275 RAB3GAP2 RAB3 GTPase-activating protein (noncatalytic) subunit 2 ENSG00000118873 RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 Autosomal recessive 212720 Martsolf syndrome 3 +609275 RAB3GAP2 RAB3 GTPase-activating protein (noncatalytic) subunit 2 ENSG00000118873 RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2 Autosomal recessive 614225 Warburg micro syndrome 2 3 +603031 TLR5 Toll-like receptor-5 ENSG00000187554 TLR5, TIL3, SLEB1, MELIOS 608556 Legionaire disease, susceptibility to 3 +603031 TLR5 Toll-like receptor-5 ENSG00000187554 TLR5, TIL3, SLEB1, MELIOS 615557 Melioidosis, susceptibility to 3 +603031 TLR5 Toll-like receptor-5 ENSG00000187554 TLR5, TIL3, SLEB1, MELIOS 601744 Systemic lupus erythematosus, resistance to 3 +603031 TLR5 Toll-like receptor-5 ENSG00000187554 TLR5, TIL3, SLEB1, MELIOS 601744 Systemic lupus erythematosus, susceptibility to, 1 3 +613058 Basal cell carcinoma, susceptibility to, 2 BCC2 associated with rs801114 613058 Basal cell carcinoma, susceptibility to, 2 2 +606554 Episodic ataxia, type 3 EA3 max lod at D1S235 Autosomal dominant 606554 Episodic ataxia, type 3 2 +604801 Muscular dystrophy, congenital, 1B MDC1B Autosomal recessive 604801 Muscular dystrophy, congenital, 1B 2 +600024 LBR Lamin B receptor ENSG00000143815 LBR, PHA Autosomal recessive 215140 Greenberg skeletal dysplasia 3 +600024 LBR Lamin B receptor ENSG00000143815 LBR, PHA Autosomal dominant 169400 Pelger-Huet anomaly 3 +600024 LBR Lamin B receptor ENSG00000143815 LBR, PHA Autosomal dominant 613471 ?Reynolds syndrome 3 +132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic ENSG00000143819 EPHX1 Diphenylhydantoin toxicity 1 +132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic ENSG00000143819 EPHX1 ?Fetal hydantoin syndrome 1 +132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic ENSG00000143819 EPHX1 607748 Hypercholanemia, familial 3 +132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic ENSG00000143819 EPHX1 Autosomal dominant 189800 Preeclampsia, susceptibility to 3 +616406 PYCR2 Pyrroline-5-carboxylate reductase 2 ENSG00000143811 PYCR2, HLD10 Autosomal recessive 616420 Leukodystrophy, hypomyelinating, 10 3 +601877 LEFTY2 Transforming growth factor, beta-4 (endometrial bleeding-associated factor) ENSG00000143768 EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA Left-right axis malformations 3 +600759 PSEN2 Presenilin 2 ENSG00000143801 PSEN2, AD4, STM2, CMD1V Autosomal dominant 606889 Alzheimer disease-4 3 +600759 PSEN2 Presenilin 2 ENSG00000143801 PSEN2, AD4, STM2, CMD1V Autosomal dominant 613697 Cardiomyopathy, dilated, 1V 3 +606980 COQ8A AARF domain-containing kinase 3 ENSG00000163050 ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4 Autosomal recessive 612016 Coenzyme Q10 deficiency, primary, 4 3 +608803 GJC2 Gap junction protein, gamma-2 (47kD) ENSG00000198835 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C Autosomal recessive 608804 Leukodystrophy, hypomyelinating, 2 3 +608803 GJC2 Gap junction protein, gamma-2 (47kD) ENSG00000198835 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C Autosomal dominant 613480 Lymphedema, hereditary, IC 3 +608803 GJC2 Gap junction protein, gamma-2 (47kD) ENSG00000198835 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C Autosomal recessive 613206 Spastic paraplegia 44, autosomal recessive 3 +615316 IBA57 IBA57, S. cerevisiae, homolog of ENSG00000181873 IBA57, C1orf69, MMDS3, SPG74 mutation identified in 1 MMDS3 family and 1 SPG74 family Autosomal recessive 615330 ?Multiple mitochondrial dysfunctions syndrome 3 3 +615316 IBA57 IBA57, S. cerevisiae, homolog of ENSG00000181873 IBA57, C1orf69, MMDS3, SPG74 mutation identified in 1 MMDS3 family and 1 SPG74 family Autosomal recessive 616451 ?Spastic paraplegia 74, autosomal recessive 3 +102610 ACTA1 Actin, alpha-1, skeletal muscle ENSG00000143632 ACTA1, ASMA, NEM3, CFTD1, SHPM mutation identified in 1 SHPM family Autosomal recessive, Autosomal dominant 161800 Myopathy, actin, congenital, with cores 3 +102610 ACTA1 Actin, alpha-1, skeletal muscle ENSG00000143632 ACTA1, ASMA, NEM3, CFTD1, SHPM mutation identified in 1 SHPM family Autosomal recessive, Autosomal dominant 161800 Myopathy, actin, congenital, with excess of thin myofilaments 3 +102610 ACTA1 Actin, alpha-1, skeletal muscle ENSG00000143632 ACTA1, ASMA, NEM3, CFTD1, SHPM mutation identified in 1 SHPM family Autosomal recessive, Autosomal dominant 255310 Myopathy, congenital, with fiber-type disproportion 1 3 +102610 ACTA1 Actin, alpha-1, skeletal muscle ENSG00000143632 ACTA1, ASMA, NEM3, CFTD1, SHPM mutation identified in 1 SHPM family Autosomal dominant 616852 ?Myopathy, scapulohumeroperoneal 3 +102610 ACTA1 Actin, alpha-1, skeletal muscle ENSG00000143632 ACTA1, ASMA, NEM3, CFTD1, SHPM mutation identified in 1 SHPM family Autosomal recessive, Autosomal dominant 161800 Nemaline myopathy 3, autosomal dominant or recessive 3 +602759 PCAP Predisposing for prostate cancer PCAP Autosomal dominant 176807 Prostate cancer, susceptibility to 2 +119100 Split-hand/foot malformation with long bone deficiency 1 SHFL1, SHFLD between rs1124110 and rs535043 Autosomal dominant 119100 Split-hand/foot malformation with long bone deficiency 1 2 +106150 AGT Angiotensinogen ENSG00000135744 AGT, SERPINA8 Multifactorial 145500 Hypertension, essential, susceptibility to 3 +106150 AGT Angiotensinogen ENSG00000135744 AGT, SERPINA8 Preeclampsia, susceptibility to 3 +106150 AGT Angiotensinogen ENSG00000135744 AGT, SERPINA8 Autosomal recessive 267430 Renal tubular dysgenesis 3 +611647 ARV1 ARV1, S. cerevisiae, homolog of ENSG00000173409 ARV1, EIEE38 Autosomal recessive 617020 Epileptic encephalopathy, early infantile, 38 3 +602744 GNPAT Glyceronephosphate O-acyltransferase ENSG00000116906 GNPAT, DHAPAT, RCDP2 Autosomal recessive 222765 Rhizomelic chondrodysplasia punctata, type 2 3 +616086 SPRTN SprT-like N-terminal domain protein ENSG00000010072 SPRTN, DVC1, C1orf124, RJALS Autosomal recessive 616200 Ruijs-Aalfs syndrome 3 +606425 EGLN1 Egl9, C. elegans, homolog of, 1 ENSG00000135766 EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH Autosomal dominant 609820 Erythrocytosis, familial, 3 3 +606425 EGLN1 Egl9, C. elegans, homolog of, 1 ENSG00000135766 EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH Autosomal dominant 609070 Hemoglobin, high altitude adaptation 3 +605210 DISC1 Disrupted in schizophrenia 1 ENSG00000162946 DISC1, SCZD9 Autosomal dominant 181500 Schizoaffective disorder, susceptibility to 3 +605210 DISC1 Disrupted in schizophrenia 1 ENSG00000162946 DISC1, SCZD9 604906 Schizophrenia, susceptibility to 3 +606271 DISC2 Disrupted in schizophrenia 2 DISC2 noncoding antisense RAN Autosomal dominant 181500 Schizophrenia 2 +614772 COA6 Cytochrome c oxidase assembly factor 6 ENSG00000168275 COA6, C1orf31, CEMCOX4 Autosomal recessive 616501 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 3 +604934 TBCE Tubulin-specific chaperone E ENSG00000282984 TBCE, KCS, KCS1, HRD Autosomal recessive 241410 Hypoparathyroidism-retardation-dysmorphism syndrome 3 +604934 TBCE Tubulin-specific chaperone E ENSG00000282984 TBCE, KCS, KCS1, HRD Autosomal recessive 244460 Kenny-Caffey syndrome, type 1 3 +610194 B3GALNT2 Beta-1,3-N-acetylgalactosaminyltransferase 2 ENSG00000282880 B3GALNT2, MGC39558, MDDGA11 Autosomal recessive 615181 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 3 +606897 LYST Lysosomal trafficking regulator ENSG00000143669 LYST, CHS1 Autosomal recessive 214500 Chediak-Higashi syndrome 3 +606603 EDARADD EDAR-associated death domain ENSG00000186197 EDARADD, ED3, EDA3, ECTD11B, ECTD11A Autosomal dominant 614940 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 3 +606603 EDARADD EDAR-associated death domain ENSG00000186197 EDARADD, ED3, EDA3, ECTD11B, ECTD11A Autosomal recessive 614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 3 +612433 DFNB45 Deafness, autosomal recessive 45 DFNB45 between D1S547 and D1S2836 Autosomal recessive 612433 Deafness, autosomal recessive 45 2 +102573 ACTN2 Actinin, alpha-2 ENSG00000077522 ACTN2, CMD1AA, CMH23 Autosomal dominant 612158 Cardiomyopathy, dilated, 1AA, with or without LVNC 3 +102573 ACTN2 Actinin, alpha-2 ENSG00000077522 ACTN2, CMD1AA, CMH23 Autosomal dominant 612158 Cardiomyopathy, hypertrophic, 23, with or without LVNC 3 +156570 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1 ENSG00000116984 MTR, HMAG Autosomal recessive 250940 Homocystinuria-megaloblastic anemia, cblG complementation type 3 +156570 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1 ENSG00000116984 MTR, HMAG Autosomal recessive 601634 Neural tube defects, folate-sensitive, susceptibility to 3 +180902 RYR2 Ryanodine receptor-2 (cardiac) ENSG00000198626 RYR2, VTSIP, ARVD2, ARVC2 Autosomal dominant 600996 Arrhythmogenic right ventricular dysplasia 2 3 +180902 RYR2 Ryanodine receptor-2 (cardiac) ENSG00000198626 RYR2, VTSIP, ARVD2, ARVC2 Autosomal dominant 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1 3 +118494 CHRM3 Cholinergic receptor, muscarinic, 3 ENSG00000133019 CHRM3, PBS, EGBRS mutation identified in 1 PBS family Autosomal recessive 100100 ?Prune belly syndrome 3 +606373 FMN2 Formin 2 ENSG00000155816 FMN2, MRT47 Autosomal recessive 616193 Mental retardation, autosomal recessive 47 3 +136850 FH Fumarate hydratase ENSG00000091483 FH, HLRCC, MCUL1, FMRD Autosomal recessive 606812 Fumarase deficiency 3 +136850 FH Fumarate hydratase ENSG00000091483 FH, HLRCC, MCUL1, FMRD Autosomal dominant 150800 Leiomyomatosis and renal cell cancer 3 +613524 SDCCAG8 Serologically defined colon cancer antigen 8 ENSG00000276111 SDCCAG8, CCCAP, SLSN7, BBS16 Autosomal recessive 615993 Bardet-Biedl syndrome 16 3 +613524 SDCCAG8 Serologically defined colon cancer antigen 8 ENSG00000276111 SDCCAG8, CCCAP, SLSN7, BBS16 613615 Senior-Loken syndrome 7 3 +611223 AKT3 v-Akt murine thymoma viral oncogene homolog 3 ENSG00000117020 AKT3, PKBG, MPPH2 Autosomal dominant 615937 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 3 +608433 ZBTB18 Zinc finger and BTB domain containing 18 ENSG00000179456 ZBTB18, ZNF238, RP58, MRD22 mutation identified in 1 family Autosomal dominant 612337 ?Mental retardation, autosomal dominant 22 3 +614698 COX20 Cytochrome c oxidase 20, S. cerevisiae, homolog of ENSG00000203667 COX20, FAM36A Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +606416 NLRP3 NLR family, pyrin domain containing 3 ENSG00000162711 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1 607115 CINCA syndrome 3 +606416 NLRP3 NLR family, pyrin domain containing 3 ENSG00000162711 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1 Autosomal dominant 120100 Familial cold-induced inflammatory syndrome 1 3 +606416 NLRP3 NLR family, pyrin domain containing 3 ENSG00000162711 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1 Autosomal dominant 191900 Muckle-Wells syndrome 3 +108420 Spermatogenic failure 2 SPGF2, ASG inversion of chromosome 1 Autosomal dominant 108420 Spermatogenic failure 2 2 +115800 Cataract 29, coralliform CTRCT29 between D2S297 and D2S2269 Autosomal dominant 115800 Cataract 29, coralliform 2 +602134 ETM2 Tremor, hereditary essential, 2 ETM2, ETM max lod at D2S272 Autosomal dominant 602134 Tremor, hereditary essential, 2 2 +607329 Hypertension, essential, susceptibility to, 3 HYT3 Multifactorial 145500 Hypertension, essential, susceptibility to, 3 2 +609402 Preeclampsia/eclampsia 2 PEE2 609402 Preeclampsia/eclampsia 2 2 +101850 Keratoderma, palmoplantar, punctate type III PPKP3 max lod at ACP1 and IGKC Autosomal dominant 101850 ?Keratoderma, palmoplantar, punctate type 3 2 +606765 TPO Thyroid peroxidase ENSG00000115705 TPO, TPX, TDH2A Autosomal recessive 274500 Thyroid dyshormonogenesis 2A 3 +605158 PXDN Peroxidasin, Drosophila, homolog of ENSG00000130508 PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA Autosomal recessive 269400 Corneal opacification and other ocular anomalies 3 +613084 MYT1L Myelin transcription factor 1-like ENSG00000186487 MYT1L, KIAA1106, MRD39 Autosomal dominant 616521 Mental retardation, autosomal dominant 39 3 +604123 RNASEH1 Ribonuclease H1 ENSG00000171865 RNASEH1, PEOB2 pseudogenes on chr. 17 and chr.1 Autosomal recessive 616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 3 +603658 RPS7 Ribosomal protein S7 ENSG00000171863 RPS7, DBA8 612563 Diamond-Blackfan anemia 8 3 +612502 COLEC11 Collectin 11 ENSG00000118004 COLEC11, CLK1, 3MC2 Autosomal recessive 265050 3MC syndrome 2 3 +600898 SOX11 SRY (sex-determining region Y)-box 11 ENSG00000176887 SOX11, MRD27 Autosomal dominant 615866 Mental retardation, autosomal dominant, 27 3 +609946 DFNB47 Deafness, neurosensory, autosomal recessive 47 DFNB47 max lod at D2S1400 and D2S262 Autosomal recessive 609946 Deafness, neurosensory, autosomal recessive 47 2 +603639 ADAM17 A disintegrin and metalloproteinase domain 17 ENSG00000151694 ADAM17, TACE, NISBD1 mutation identified in 1 NISBD1 family Autosomal recessive 614328 ?Inflammatory skin and bowel disease, neonatal, 1 3 +603301 KLF11 Kruppel-like factor 11 ENSG00000172059 KLF11, TIEG2, FKLF1, FKLF, MODY7 610508 Maturity-onset diabetes of the young, type VII 3 +165640 ODC1 Ornithine decarboxylase-1 ENSG00000115758 ODC1 pseudogene ODCP on 7q31-qter Autosomal dominant 114500 Colonic adenoma recurrence, reduced risk of 3 +605518 LPIN1 Lipin 1 ENSG00000134324 LPIN1 related to LSL Autosomal recessive 268200 Myoglobinuria, acute recurrent, autosomal recessive 3 +610760 Cholesterol level quantitative trait locus 2 CLQTL2 max lod at D2S1360 610760 Cholesterol level QTL 2 2 +609800 Generalized epilepsy with febrile seizures plus, type 4 GEFSP4 max lod at D2S305 Autosomal dominant 609800 Epilepsy, generalized, with febrile seizures plus, type 4 2 +609271 Keratoconus 4 KTCN4 between D2S305 and D2S2373 609271 Keratoconus 4 2 +608025 NBAS Neuroblastoma-amplified sequence ENSG00000151779 NBAS, NAG, SOPH, ILFS2 Autosomal recessive 616483 Infantile liver failure syndrome 2 3 +608025 NBAS Neuroblastoma-amplified sequence ENSG00000151779 NBAS, NAG, SOPH, ILFS2 Autosomal recessive 614800 Short stature, optic nerve atrophy, and Pelger-Huet anomaly 3 +164840 MYCN Oncogene NMYC ENSG00000134323 MYCN, NMYC, ODED, MODED proximal to APOB Autosomal dominant 164280 Feingold syndrome 3 +613602 WDR35 WD repeat-containing protein 35 ENSG00000118965 WDR35, NAOFEN, KIAA1336, CED2, SRTD7 Autosomal recessive 613610 Cranioectodermal dysplasia 2 3 +613602 WDR35 WD repeat-containing protein 35 ENSG00000118965 WDR35, NAOFEN, KIAA1336, CED2, SRTD7 Autosomal recessive 614091 Short-rib thoracic dysplasia 7 with or without polydactyly 3 +602109 MATN3 Matrilin 3 ENSG00000132031 MATN3, EDM5, HOA, OS2 Autosomal dominant 607078 Epiphyseal dysplasia, multiple, 5 3 +602109 MATN3 Matrilin 3 ENSG00000132031 MATN3, EDM5, HOA, OS2 Autosomal dominant 140600 Osteoarthritis susceptibility 2 3 +602109 MATN3 Matrilin 3 ENSG00000132031 MATN3, EDM5, HOA, OS2 Autosomal recessive 608728 Spondyloepimetaphyseal dysplasia 3 +107730 APOB Apolipoprotein B (including Ag(x) antigen) ENSG00000084674 APOB, FLDB, LDLCQ4 1 gene for liver apo-B100 and gut apo-B48; Ag linked Autosomal dominant 144010 Hypercholesterolemia, due to ligand-defective apo B 3 +107730 APOB Apolipoprotein B (including Ag(x) antigen) ENSG00000084674 APOB, FLDB, LDLCQ4 1 gene for liver apo-B100 and gut apo-B48; Ag linked Autosomal recessive 615558 Hypobetalipoproteinemia 3 +609955 GINGF3 Fibromatosis, gingival, 3 GINGF3, HGF3, GGF3 between D2S2221 and D2S1788 609955 Fibromatosis, gingival, 3 2 +176830 POMC Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) ENSG00000115138 POMC 609734 Obesity, adrenal insufficiency, and red hair due to POMC deficiency 3 +176830 POMC Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) ENSG00000115138 POMC Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, early-onset, susceptibility to 3 +602769 DNMT3A DNA methyltransferase 3A ENSG00000119772 DNMT3A, TBRS Autosomal dominant 615879 Tatton-Brown-Rahman syndrome 3 +600890 HADHA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit ENSG00000084754 HADHA, MTPA 609016 Fatty liver, acute, of pregnancy 3 +600890 HADHA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit ENSG00000084754 HADHA, MTPA 609016 HELLP syndrome, maternal, of pregnancy 3 +600890 HADHA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit ENSG00000084754 HADHA, MTPA 609016 LCHAD deficiency 3 +600890 HADHA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit ENSG00000084754 HADHA, MTPA Autosomal recessive 609015 Trifunctional protein deficiency 3 +143450 HADHB Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit ENSG00000138029 HADHB Autosomal recessive 609015 Trifunctional protein deficiency 3 +615288 DRC1 Dynein regulatory complex, subunit 1, Chlamydomonas, homolog of ENSG00000157856 DRC1, CCDC164, C2orf39, CILD21 Autosomal recessive 615294 Ciliary dyskinesia, primary, 21 3 +603681 OTOF Otoferlin ENSG00000115155 OTOF, DFNB9, NSRD9, AUNB1 symbolized DFNB6 by authors Autosomal recessive 601071 Auditory neuropathy, autosomal recessive, 1 3 +603681 OTOF Otoferlin ENSG00000115155 OTOF, DFNB9, NSRD9, AUNB1 symbolized DFNB6 by authors Autosomal recessive 601071 Deafness, autosomal recessive 9 3 +603220 KCNK3 Potassium channel, subfamily K, member 3 ENSG00000171303 KCNK3, TASK, PPH4 Autosomal dominant 615344 Pulmonary hypertension, primary, 4 3 +615900 AGBL5 AATP/GTP-binding protein-like 5 ENSG00000084693 AGBL5, CCP5, RP75 Autosomal recessive 617023 Retinitis pigmentosa 75 3 +614058 KHK Ketohexokinase (fructokinase) ENSG00000138030 KHK Autosomal recessive 229800 Fructosuria 3 +114010 CAD CAD trifunctional protein of pyrimidine biosynthesis ENSG00000084774 CAD, CDG1Z mutation identified in 1 CDG1Z family Autosomal recessive 616457 ?Congenital disorder of glycosylation, type Iz 3 +137960 MPV17 Mpv17 transgene, mouse, glomerulosclerosis, homolog of ENSG00000115204 MPV17, MTDPS6 Autosomal recessive 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 3 +606687 EIF2B4 Eukaryotic translation initiation factor 2B, subunit 4 ENSG00000115211 EIF2B4 Autosomal recessive 603896 Leukoencephaly with vanishing white matter 3 +606687 EIF2B4 Eukaryotic translation initiation factor 2B, subunit 4 ENSG00000115211 EIF2B4 Autosomal recessive 603896 Ovarioleukodystrophy 3 +613598 ZNF513 Zinc finger protein 513 ENSG00000163795 ZNF513, RP58 613617 Retinitis pigmentosa 58 3 +607386 IFT172 Intraflagellar transport 172, Chlamydomonas, homolog of ENSG00000138002 IFT172, SLB, KIAA1179, SRTD10, RP71 Autosomal recessive 616394 Retinitis pigmentosa 71 3 +607386 IFT172 Intraflagellar transport 172, Chlamydomonas, homolog of ENSG00000138002 IFT172, SLB, KIAA1179, SRTD10, RP71 Autosomal recessive 615630 Short-rib thoracic dysplasia 10 with or without polydactyly 3 +600842 GCKR Glucokinase (hexokinase 4) regulatory protein ENSG00000084734 GCKR, GKRP, FGQTL5 613463 Fasting plasma glucose level QTL 5 3 +613425 C2orf71 Chromosome 2 open reading frame 71 ENSG00000179270 C2orf71 613428 Retinitis pigmentosa 54 3 +105590 ALK Anaplastic lymphoma kinase (Ki-1) ENSG00000171094 ALK, NBLST3 613014 Neuroblastoma, susceptibility to, 3 3 +607633 XDH Xanthine dehydrogenase (xanthine oxidase) ENSG00000158125 XDH, XAN1 Autosomal recessive 278300 Xanthinuria, type I 3 +607306 SRD5A2 Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha-2) ENSG00000277893 SRD5A2 Autosomal recessive 264600 Pseudovaginal perineoscrotal hypospadias 3 +114580 Candidiasis, familial, 1 CANDF1, CMCT between D2S367 and D2S2240 Autosomal dominant 114580 Candidiasis, familial, 1, autosomal dominant 2 +604277 SPAST Spastin ENSG00000021574 SPAST, SPG4 Autosomal dominant 182601 Spastic paraplegia 4, autosomal dominant 3 +606831 NLRC4 NLR family, caspase recruitment domain-containing 4 ENSG00000091106 NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4 mutation identified in 1 FCAS4 family Autosomal dominant 616050 Autoinflammation with infantile enterocolitis 3 +606831 NLRC4 NLR family, caspase recruitment domain-containing 4 ENSG00000091106 NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4 mutation identified in 1 FCAS4 family Autosomal dominant 616115 ?Familial cold autoinflammatory syndrome 4 3 +601771 CYP1B1 Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 ENSG00000138061 CYP1B1, GLC3A Autosomal recessive 231300 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 3 +601771 CYP1B1 Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 ENSG00000138061 CYP1B1, GLC3A 604229 Peters anomaly 3 +614227 Hyperuricemic nephropathy, familial juvenile, 3 HNFJ3 between rs372139 and rs896986 Autosomal dominant 614227 Hyperuricemic nephropathy, familial juvenile, 3 2 +182530 SOS1 Son of sevenless, Drosophila, homolog of, 1 ENSG00000115904 SOS1, GINGF, GF1, HGF, NS4 mutation identified in 1 GINGF1 family Autosomal dominant 135300 ?Fibromatosis, gingival, 1 3 +182530 SOS1 Son of sevenless, Drosophila, homolog of, 1 ENSG00000115904 SOS1, GINGF, GF1, HGF, NS4 mutation identified in 1 GINGF1 family Autosomal dominant 610733 Noonan syndrome 4 3 +606407 Homozygous 2p21 deletion syndrome DEL2p21, C2DELp21 contiguous gene syndrome disrupting SLC3A1 and PREPL genes Autosomal recessive 606407 Hypotonia-cystinuria syndrome 4 +615654 DFNA58 Deafness, autosomal dominant 58 DFNA58 between D2S2259 and D2S2114 Autosomal dominant 615654 Deafness, autosomal dominant 58 2 +601694 Leptin serum levels quantitative trait locus 1 LEPQTL1, LSL 601694 Leptin serum levels QTL1 2 +608703 SCA25 Spinocerebellar ataxia 25 SCA25 Autosomal dominant 608703 Spinocerebellar ataxia 25 2 +617083 DYNC2LI1 Dynein, cytoplasmic 2, light intermediate chain 1 ENSG00000138036 DYNC2LI1, D2LIC, LIC3, SRTD15 Autosomal recessive 617088 Short-rib throacic dysplasia 15 with polydactyly 3 +605459 ABCG5 ATP-binding cassette, subfamily G, member 5 ENSG00000138075 ABCG5 Autosomal recessive 210250 Sitosterolemia 3 +605460 ABCG8 ATP-binding cassette, subfamily G, member 8 ENSG00000143921 ABCG8, GBD4 611465 Gallbladder disease 4 3 +605460 ABCG8 ATP-binding cassette, subfamily G, member 8 ENSG00000143921 ABCG8, GBD4 Autosomal recessive 210250 Sitosterolemia 3 +607544 LRPPRC Leucine-rich PPR motif-containing protein ENSG00000138095 LRPPRC, LRP130, LSFC Autosomal recessive 220111 Leigh syndrome, French-Canadian type 3 +104614 SLC3A1 Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 ENSG00000138079 SLC3A1, ATR1, D2H, NBAT Autosomal recessive, Autosomal dominant 220100 Cystinuria 3 +603714 SIX3 Sine oculis homeo box, Drosophila, homolog of, 3 ENSG00000138083 SIX3, HPE2 Autosomal dominant, Isolated cases 157170 Holoprosencephaly 2 3 +603714 SIX3 Sine oculis homeo box, Drosophila, homolog of, 3 ENSG00000138083 SIX3, HPE2 269160 Schizencephaly 3 +603349 EPAS1 Endothelial PAS domain protein 1 ENSG00000116016 EPAS1, MOP2, HIF2A, ECYT4 611783 Erythrocytosis, familial, 4 3 +604594 CRIPT Cystine-rich PDZ binding protein ENSG00000119878 CRIPT, SSMDF Autosomal recessive 615789 Short stature with microcephaly and distinctive facies 3 +607788 MCFD2 Multiple coagulation factor deficiency protein 2 ENSG00000180398 MCFD2, F5F8D2 613625 Factor V and factor VIII, combined deficiency of 3 +609332 TTC7A Tetratricopeptide repeat domain 7A ENSG00000068724 TTC7A, TTC7, KIAA1140, MINAT, GIDID Autosomal recessive 243150 Gastrointestinal defects and immunodeficiency syndrome 3 +114182 CALM2 Calmodulin-2 ENSG00000160014 CALM2, LQT15 Autosomal dominant 616249 Long QT syndrome 15 3 +185535 EPCAM Epithelial cellular adhesion molecule ENSG00000119888 EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 previously assigned to 4q 613244 Colorectal cancer, hereditary nonpolyposis, type 8 3 +185535 EPCAM Epithelial cellular adhesion molecule ENSG00000119888 EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 previously assigned to 4q Autosomal recessive 613217 Diarrhea 5, with tufting enteropathy, congenital 3 +609309 MSH2 mutS, E. coli, homolog of, 2 ENSG00000095002 MSH2, COCA1, FCC1, HNPCC1 Autosomal dominant 120435 Colorectal cancer, hereditary nonpolyposis, type 1 3 +609309 MSH2 mutS, E. coli, homolog of, 2 ENSG00000095002 MSH2, COCA1, FCC1, HNPCC1 Autosomal recessive 276300 Mismatch repair cancer syndrome 3 +609309 MSH2 mutS, E. coli, homolog of, 2 ENSG00000095002 MSH2, COCA1, FCC1, HNPCC1 Autosomal dominant 158320 Muir-Torre syndrome 3 +609958 Asthma-related traits, susceptibility to, 3 ASRT3 max lod at rs2063871 609958 Asthma-related traits, susceptibility to, 3 2 +605244 CNC2 Carney complex, type II CNC2 605244 Carney complex, type II 2 +604254 DYX3 Dyslexia, susceptibility to, 3 DYX3 604254 Dyslexia, susceptibility to, 3 2 +611276 GLC1H Glaucoma 1, open angle, H GLC1H between D2S123 AND D2S2165 611276 Glaucoma 1, open angle, H 2 +613549 Stature quantitative trait locus 24 STQTL24 linked to rs1520446 613549 Stature QTL 24 2 +600678 MSH6 MutS, E. coli, homolog of, 6 ENSG00000116062 MSH6, GTBP, HNPCC5 0.5 Mb from MSH2 Autosomal dominant 614350 Colorectal cancer, hereditary nonpolyposis, type 5 3 +600678 MSH6 MutS, E. coli, homolog of, 6 ENSG00000116062 MSH6, GTBP, HNPCC5 0.5 Mb from MSH2 608089 Endometrial cancer, familial 3 +600678 MSH6 MutS, E. coli, homolog of, 6 ENSG00000116062 MSH6, GTBP, HNPCC5 0.5 Mb from MSH2 Autosomal recessive 276300 Mismatch repair cancer syndrome 3 +152790 LHCGR Luteinizing hormone/choriogonadotropin receptor ENSG00000138039 LHCGR, LHR, LCGR 176410 Leydig cell adenoma, somatic, with precocious puberty 3 +152790 LHCGR Luteinizing hormone/choriogonadotropin receptor ENSG00000138039 LHCGR, LHR, LCGR Autosomal recessive 238320 Leydig cell hypoplasia with hypergonadotropic hypogonadism 3 +152790 LHCGR Luteinizing hormone/choriogonadotropin receptor ENSG00000138039 LHCGR, LHR, LCGR Autosomal recessive 238320 Leydig cell hypoplasia with pseudohermaphroditism 3 +152790 LHCGR Luteinizing hormone/choriogonadotropin receptor ENSG00000138039 LHCGR, LHR, LCGR Autosomal recessive 238320 Luteinizing hormone resistance, female 3 +152790 LHCGR Luteinizing hormone/choriogonadotropin receptor ENSG00000138039 LHCGR, LHR, LCGR Autosomal dominant 176410 Precocious puberty, male 3 +136435 FSHR Follicle stimulating hormone receptor ENSG00000170820 FSHR, ODG1 Autosomal recessive 233300 Ovarian dysgenesis 1 3 +136435 FSHR Follicle stimulating hormone receptor ENSG00000170820 FSHR, ODG1 Autosomal dominant 608115 Ovarian hyperstimulation syndrome 3 +136435 FSHR Follicle stimulating hormone receptor ENSG00000170820 FSHR, ODG1 Autosomal recessive 276400 Ovarian response to FSH stimulation 3 +600565 NRXN1 Neurexin 1 ENSG00000179915 NRXN1, PTHSL2, SCZD17 Autosomal recessive 614325 Pitt-Hopkins-like syndrome 2 3 +600565 NRXN1 Neurexin 1 ENSG00000179915 NRXN1, PTHSL2, SCZD17 614332 Schizophrenia, susceptibility to, 17 3 +612513 Chromosome 2p16.1-p15 deletion syndrome DEL2p16.1-p15, C2DELp161-p15 contiguous gene deletion syndrome Isolated cases 612513 Chromosome 2p16.1-p15 deletion syndrome 4 +142335 HPFH2 Fetal hemoglobin quantitative trait locus 5 HBFQTL5 associated with rs11886868 Autosomal dominant 142335 Fetal hemoglobin QTL5 2 +609736 CCDC88A Coiled-coil domain-containing protein 88A ENSG00000115355 CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHO mutation identified in 1 PEHO family Autosomal recessive 260565 PEHO syndrome 3 +610316 PNPT1 Polyribonucleotide nucleotidyltransferase 1 ENSG00000138035 PNPT1, OLD35, COXPD13, DFNB70 Autosomal recessive 614932 Combined oxidative phosphorylation deficiency 13 3 +610316 PNPT1 Polyribonucleotide nucleotidyltransferase 1 ENSG00000138035 PNPT1, OLD35, COXPD13, DFNB70 Autosomal recessive 614934 Deafness, autosomal recessive 70 3 +601548 EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 (fibrillin-like) ENSG00000115380 EFEMP1, FBNL, DHRD Autosomal dominant 126600 Doyne honeycomb degeneration of retina 3 +608111 FANCL PHD finger protein 9 ENSG00000115392 PHF9, FANCL Autosomal recessive 614083 Fanconi anemia, complementation group L 3 +606557 BCL11A B-cell CLL/lymphoma 11A ENSG00000119866 BCL11A, CTIP1, EVI9, KIAA1809, DILOS Autosomal dominant 617101 Dias-Logan syndrome 3 +601789 PEX13 Peroxisome biogenesis factor 13 (peroxin 13) ENSG00000162928 PEX13, ZWS, NALD, PBD11A, PBD11B 614883 Peroxisome biogenesis disorder 11A (Zellweger) 3 +601789 PEX13 Peroxisome biogenesis factor 13 (peroxin 13) ENSG00000162928 PEX13, ZWS, NALD, PBD11A, PBD11B 614885 Peroxisome biogenesis disorder 11B 3 +613596 FAM161A Family with sequence similarity 161, member A ENSG00000170264 FAM161A, RP28 606068 Retinitis pigmentosa 28 3 +609922 EHBP1 EH domain-binding protein 1 ENSG00000115504 EHBP1, KIAA0903, HPC12 611868 Prostate cancer, hereditary, 12 3 +613580 WDPCP WD repeat-containing planar cell polarity effector ENSG00000143951 WDPCP, C2orf86, BBS15, CHDTHP mutation identified in 1 BBS15 family and 1 CHDTHP patient Autosomal recessive 615992 ?Bardet-Biedl syndrome 15 3 +613580 WDPCP WD repeat-containing planar cell polarity effector ENSG00000143951 WDPCP, C2orf86, BBS15, CHDTHP mutation identified in 1 BBS15 family and 1 CHDTHP patient Autosomal recessive 217085 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 3 +610071 Hyperparathyroidism 3 HRPT3 between D2S2368 and D2S358 610071 Hyperparathyroidism 3 2 +612853 Restless legs syndrome, susceptibility to, 7 RLS7 associated with rs2300478 612853 Restless legs syndrome 7 2 +600229 SLC1A4 Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ENSG00000115902 SLC1A4, SATT, ASCT1, SPATCCM Autosomal recessive 616657 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 3 +602966 OFC2 Orofacial cleft-2 OFC2 ?relation to TGFA 602966 Orofacial cleft-2 2 +602404 PARK3 Parkinson disease 3 PARK3 602404 Parkinson disease 3 2 +189800 PEE1 Preeclampsia/eclampsia 1 PEE1, PREG1 ?distinct loci at 2p25 and 9p13 Autosomal dominant 189800 Preeclampsia/eclampsia 1 2 +606410 ANTXR1 Anthrax toxin receptor 1 ENSG00000169604 ANTXR1, TEM8, ATR, GAPO Autosomal recessive 230740 GAPO syndrome 3 +606410 ANTXR1 Anthrax toxin receptor 1 ENSG00000169604 ANTXR1, TEM8, ATR, GAPO Autosomal dominant 602089 Hemangioma, capillary infantile, susceptibility to 3 +138292 GFPT1 Glutamine-fructose-6-phosphate transaminase ENSG00000198380 GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1 Autosomal recessive 610542 Myasthenia, congenital, 12, with tubular aggregates 3 +608100 NFU1 NFU1 iron-sulfur cluster scaffold, S. cerevisiae, homolog of ENSG00000169599 NFU1, HIRIP, MMDS1 Autosomal recessive 605711 Multiple mitochondrial dysfunctions syndrome 1 3 +603518 TIA1 TIA1 cytotoxic granule-associated RNA-binding protein ENSG00000116001 TIA1, WDM Autosomal recessive, Autosomal dominant 604454 Welander distal myopathy 3 +608697 FIGLA Factor in germline alpha, mouse, homolog of ENSG00000183733 FIGLA, POF6 612310 Premature ovarian failure 6 3 +604862 CD207 CD207 antigen ENSG00000116031 CD207, LANGERIN, CLEC4K mutation identified in 1 patient 613393 ?[Birbeck granule deficiency 3 +192132 ATP6V1B1 ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD (vacuolar proton pump, subunit 3) ENSG00000116039 ATP6B1, VPP3 Autosomal recessive 267300 Renal tubular acidosis with deafness 3 +608419 MCEE Methylmalonyl-CoA epimerase ENSG00000124370 MCEE Autosomal recessive 251120 Methylmalonyl-CoA epimerase deficiency 3 +603009 DYSF Dysferlin ENSG00000135636 DYSF, LGMD2B, MMD1 Autosomal recessive 254130 Miyoshi muscular dystrophy 1 3 +603009 DYSF Dysferlin ENSG00000135636 DYSF, LGMD2B, MMD1 Autosomal recessive 253601 Muscular dystrophy, limb-girdle, type 2B 3 +603009 DYSF Dysferlin ENSG00000135636 DYSF, LGMD2B, MMD1 Autosomal recessive 606768 Myopathy, distal, with anterior tibial onset 3 +605207 CYP26B1 Cytochrome P450, subfamily XXVIB, polypeptide 1 ENSG00000003137 CYP26B1, CYP26A2, P450RAI2, RHFCA 614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 3 +182125 SPR Sepiapterin reductase ENSG00000116096 SPR ?Autosomal dominant, Autosomal recessive 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 3 +606844 ALMS1 Alstrom syndrome gene ENSG00000116127 ALMS1, ALSS, KIAA0328 Autosomal recessive 203800 Alstrom syndrome 3 +606247 STAMBP STAM binding protein ENSG00000124356 STAMBP, AMSH, MICCAP Autosomal recessive 614261 Microcephaly-capillary malformation syndrome 3 +102545 ACTG2 Actin, gamma-2, smooth muscle, enteric ENSG00000163017 ACTG2, ACTA3, VSCM Autosomal dominant 155310 Visceral myopathy 3 +601465 DGUOK Deoxyguanosine kinase, mitochondrial ENSG00000114956 DGUOK, DGK, MTDPS3, PEOB4, NCPH Autosomal recessive 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 3 +601465 DGUOK Deoxyguanosine kinase, mitochondrial ENSG00000114956 DGUOK, DGK, MTDPS3, PEOB4, NCPH Autosomal recessive 617068 Portal hypertension, noncirrhotic 3 +601465 DGUOK Deoxyguanosine kinase, mitochondrial ENSG00000114956 DGUOK, DGK, MTDPS3, PEOB4, NCPH Autosomal recessive 617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 3 +613183 BOLA3 BolA, E. coli, homolog of, 3 ENSG00000163170 BOLA3, MMDS2 Autosomal recessive 614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 3 +601143 DCTN1 Dynactin 1 (p150, glued, Drosophila, homolog of) ENSG00000204843 DCTN1, HMN7B Autosomal recessive, Autosomal dominant 105400 Amyotrophic lateral sclerosis, susceptibility to 3 +601143 DCTN1 Dynactin 1 (p150, glued, Drosophila, homolog of) ENSG00000204843 DCTN1, HMN7B Autosomal dominant 607641 Neuropathy, distal hereditary motor, type VIIB 3 +601143 DCTN1 Dynactin 1 (p150, glued, Drosophila, homolog of) ENSG00000204843 DCTN1, HMN7B Autosomal dominant 168605 Perry syndrome 3 +601336 MOGS Mannosyl-oligosaccharide glucosidase ENSG00000115275 MOGS, GCS1, CDG2B Autosomal recessive 606056 Congenital disorder of glycosylation, type IIb 3 +606441 HTRA2 HTRA serine peptidase 2 ENSG00000115317 HTRA2, OMI, PARK13, PRSS25 610297 Parkinson disease 13 3 +607304 Cataract 27, nuclear progressive CTRCT27, CCNP near D2S2333 607304 Cataract 27, nuclear progressive 2 +613564 Chromosome 2p12-p11.2 deletion syndrome DEL2p12p11.2, C2DELp12p11.2 contiguous gene deletion syndrome 613564 Chromosome 2p12-p11.2 deletion syndrome 4 +608394 DFNA43 Deafness, autosomal dominant 43 DFNA43 max lod at D2S139 Autosomal dominant 608394 Deafness, autosomal dominant 43 2 +139900 Hand skill, relative HSR Autosomal dominant 139900 Handedness 2 +611224 SUCLG1 Succinate-CoA ligase, alpha subunit ENSG00000163541 SUCLG1, SUCLA1, MTDPS9 Autosomal recessive 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 3 +615427 ELMOD3 ELMO/CED12 domain-containing protein 3 ENSG00000115459 ELMOD3, RBED1, DFNB88 one family identified with mutation Autosomal recessive 615429 ?Deafness, autosomal recessive 88 3 +137167 GGCX Gamma-glutamyl carboxylase ENSG00000115486 GGCX, VKCFD1 610842 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 3 +137167 GGCX Gamma-glutamyl carboxylase ENSG00000115486 GGCX, VKCFD1 Autosomal recessive 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 3 +178640 SFTPB Pulmonary surfactant-associated protein B, 18kD ENSG00000168878 SFTPB, SFTB3, SMDP1 Autosomal recessive 265120 Surfactant metabolism dysfunction, pulmonary, 1 3 +604402 ST3GAL5 Sialyltransferase 9 ENSG00000115525 SIAT9, ST3GALV, SPDRS Autosomal recessive 609056 Salt and pepper developmental regression syndrome 3 +616404 POLR1A Polymerase I, RNA, subunit A ENSG00000068654 POLR1A, RPA194, AFDCIN Autosomal dominant 616462 Acrofacial dysostosis, Cincinnati type 3 +609139 REEP1 Receptor expression-enhancing protein 1 ENSG00000068615 REEP1, C2ORF23, SPG31, HMN5B mutation identified in 1 HMN5B family Autosomal dominant 614751 ?Neuronopathy, distal hereditary motor, type VB 3 +609139 REEP1 Receptor expression-enhancing protein 1 ENSG00000068615 REEP1, C2ORF23, SPG31, HMN5B mutation identified in 1 HMN5B family Autosomal dominant 610250 Spastic paraplegia 31, autosomal dominant 3 +186910 CD8A CD8 antigen, alpha polypeptide (p32) ENSG00000153563 CD8A distal to IGK Autosomal recessive 608957 CD8 deficiency, familial 3 +604032 EIF2AK3 Eukaryotic translation initiation factor 2-alpha kinase 3 ENSG00000172071 EIF2AK3, PEK, PERK, WRS Autosomal recessive 226980 Wolcott-Rallison syndrome 3 +180430 RPIA Ribose 5-phosphate isomerase A ENSG00000153574 RPIA, RPI, RPIAD mutation identified in 1 RPAID patient Autosomal recessive 608611 ?Ribose 5-phosphate isomerase deficiency 3 +147200 IGKC Immunoglobulin kappa constant region IGKC, IGKCD Autosomal recessive 614102 Kappa light chain deficiency 3 +606053 Autism, susceptibility to, 5 AUTS5 max lod at D2S188 Autosomal recessive, Autosomal dominant 606053 Autism susceptibility 5 2 +612006 Celiac disease, susceptibility to, 8 CELIAC8 associated with rs917997 and rs13015714 612006 Celiac disease, susceptibility to, 8 2 +606963 Pulmonary disease, chronic obstructive, severe early-onset COPD ?SERPINE2 606963 Pulmonary disease, chronic obstructive, severe early-onset 2 +606689 GLC1B Glaucoma 1, open angle, B (adult-onset) GLC1B 606689 Glaucoma 1B, primary open angle, adult onset 2 +611897 Nanophthalmos 3 NNO3 max lod at D2S2265 611897 Nanophthalmos 3 2 +104260 ADRA2B Adrenergic, alpha-2B-, receptor ENSG00000274286 ADRA2B, ADRA2L1, FAME2 Autosomal dominant 607876 Epilepsy, myoclonic, familial adult, 2 3 +613403 TMEM127 Transmembrane protein 127 ENSG00000135956 TMEM127 Autosomal dominant 171300 Pheochromocytoma, susceptibility to 3 +601664 SNRNP200 Small nuclear ribonucleoprotein 200kD (U5) ENSG00000144028 SNRNP200, ASCC3L1, KIAA0788, RP33 Autosomal dominant 610359 Retinitis pigmentosa 33 3 +609552 LMAN2L LMAN2-like protein ENSG00000114988 LMAN2L, VIPL, MRT52 mutation identified in 1 MRT52 family Autosomal recessive 616887 ?Mental retardation, autosomal recessive, 52 3 +607805 CNNM4 Cyclin M4 ENSG00000158158 CNNM4, ACDP4 Autosomal recessive 217080 Jalili syndrome 3 +176947 ZAP70 Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase) ENSG00000115085 ZAP70, SRK, ADMIO2, IMD48 Autosomal recessive 617006 Autoimmune disease, multisystem, infantile-onset, 2 3 +176947 ZAP70 Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase) ENSG00000115085 ZAP70, SRK, ADMIO2, IMD48 Autosomal recessive 269840 Immunodeficiency 48 3 +614884 VWA3B von Willebrand factor A domain-containing protein 3B ENSG00000168658 VWA3B, SCAR22 mutation identified in 1 SCAR22 family Autosomal recessive 616948 ?Spinocerebellar ataxia, autosomal recessive 22 3 +600053 CNGA3 Cyclic nucleotide-gated channel, alpha-3 ENSG00000144191 CNGA3, CNG3, ACHM2 Autosomal recessive 216900 Achromatopsia-2 3 +613920 COA5 Cytochrome c oxidase assembly factor 5 ENSG00000183513 COA5, C2orf64, PET191, CEMCOX3 mutation identified in 1 CEMCOX3 family Autosomal recessive 616500 ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 3 +610284 LIPT1 Lipoyltransferase 1 ENSG00000144182 LIPT1, LIPT1D Autosomal recessive 616299 Lipoyltransferase 1 deficiency 3 +608761 SLC5A7 Solute carrier family 5 (choline transporter), member 7 ENSG00000115665 SLC5A7, CHT1, HMN7A Autosomal dominant 158580 Neuronopathy, distal hereditary motor, type VIIA 3 +257550 Cogan-type congenital oculomotor apraxia COMA independent gene or feature of nephronophthisis Autosomal recessive 257550 Oculomotor apraxia, congenital, Cogan-type 2 +601181 RANBP2 RAN-binding protein 2 ENSG00000153201 RANBP2, NUP358, ANE1, IIAE3 Autosomal dominant 608033 Encephalopathy, acute, infection-induced, 3, susceptibility to 3 +604095 EDAR Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) ENSG00000135960 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B Autosomal dominant 129490 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 3 +604095 EDAR Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) ENSG00000135960 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B Autosomal recessive 224900 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 3 +604095 EDAR Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) ENSG00000135960 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B 612630 Hair morphology 1, hair thickness 3 +607100 NPHP1 Nephrocystin ENSG00000144061 NPHP1, NPH1, SLSN1, JBTS4 Autosomal recessive 609583 Joubert syndrome 4 3 +607100 NPHP1 Nephrocystin ENSG00000144061 NPHP1, NPH1, SLSN1, JBTS4 Autosomal recessive 256100 Nephronophthisis 1, juvenile 3 +607100 NPHP1 Nephrocystin ENSG00000144061 NPHP1, NPH1, SLSN1, JBTS4 Autosomal recessive 266900 Senior-Loken syndrome-1 3 +602452 BUB1 Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of (mitotic checkpoint gene BUB1) ENSG00000169679 BUB1 Colorectal cancer with chromosomal instability, somatic 3 +604705 MERTK Mer tyrosine kinase protooncogene ENSG00000153208 MERTK, RP38 Autosomal recessive 613862 Retinitis pigmentosa 38 3 +612459 Body mass index quantitative trait locus 13 BMIQ13 associated with rs7566605 612459 Body mass index QTL13 2 +604288 CMD1H Cardiomyopathy, dilated, 1H CMD1H 604288 Cardiomyopathy, dilated, 1H 2 +165320 Liver cancer oncogene LCO ?Hepatocellular carcinoma 1 +616174 CKAP2L Cytoskeleton-associated protein 2-like ENSG00000169607 CKAP2L, RADMIS Autosomal recessive 272440 Filippi syndrome 3 +147720 IL1B Interleukin-1, beta ENSG00000125538 IL1B within 430kb of IL1RN, IL1A Autosomal dominant 137215 Gastric cancer risk after H. pylori infection 3 +605507 IL36RN Interleukin 36 receptor antagonist ENSG00000136695 IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14 Autosomal recessive 614204 Psoriasis 14, pustular 3 +147679 IL1RN Interleukin-1 receptor antagonist ENSG00000136689 IL1RN, MVCD4, DIRA Autosomal dominant 137215 Gastric cancer risk after H. pylori infection 3 +147679 IL1RN Interleukin-1 receptor antagonist ENSG00000136689 IL1RN, MVCD4, DIRA Autosomal recessive 612852 Interleukin 1 receptor antagonist deficiency 3 +147679 IL1RN Interleukin-1 receptor antagonist ENSG00000136689 IL1RN, MVCD4, DIRA 612628 Microvascular complications of diabetes 4 3 +167415 PAX8 Paired box homeotic gene-8 ENSG00000125618 PAX8 Autosomal dominant 218700 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 3 +609671 STEAP3 Six-transmembrane epithelial antigen of prostate 3 ENSG00000115107 STEAP3, TSAP6, AHMIO2 1 family identifed with mutation Autosomal dominant 615234 ?Anemia, hypochromic microcytic, with iron overload 2 3 +165230 GLI2 GLI-Kruppel family member GLI2 (oncogene GLI2) ENSG00000074047 GLI2, HPE9, CJS Autosomal dominant 615849 Culler-Jones syndrome 3 +165230 GLI2 GLI-Kruppel family member GLI2 (oncogene GLI2) ENSG00000074047 GLI2, HPE9, CJS Autosomal dominant 610829 Holoprosencephaly 9 3 +601428 RNU4ATAC RNA, U4, small nuclear, AT-AC form ENSG00000264229 RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN Autosomal recessive 210710 Microcephalic osteodysplastic primordial dwarfism, type I 3 +601428 RNU4ATAC RNA, U4, small nuclear, AT-AC form ENSG00000264229 RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN Autosomal recessive 616651 Roifman syndrome 3 +614588 DYT21 Dystonia 21 DYT21 Autosomal dominant 614588 Dystonia 21 2 +110750 GYPC Glycophorin C ENSG00000136732 GYPC, GE, GPC 616089 Blood group, Gerbich 3 +110750 GYPC Glycophorin C ENSG00000136732 GYPC, GE, GPC 611162 Malaria, resistance to 3 +601248 BIN1 Box-dependent MYC-interacting protein-1 (amphiphysin-like) ENSG00000136717 BIN1, AMPHL Autosomal recessive 255200 Myopathy, centronuclear, autosomal recessive 3 +133510 ERCC3 Excision-repair cross-complementing rodent repair deficiency, complementation group 3 ENSG00000163161 ERCC3, XPB, TTD2 616390 Trichothiodystrophy 2, photosensitive 3 +133510 ERCC3 Excision-repair cross-complementing rodent repair deficiency, complementation group 3 ENSG00000163161 ERCC3, XPB, TTD2 Autosomal recessive 610651 Xeroderma pigmentosum, group B 3 +612283 PROC Protein C (inactivator of coagulation factors Va and VIIIa) ENSG00000115718 PROC, PC, THPH3, THPH4 Autosomal dominant 176860 Thrombophilia due to protein C deficiency, autosomal dominant 3 +612283 PROC Protein C (inactivator of coagulation factors Va and VIIIa) ENSG00000115718 PROC, PC, THPH3, THPH4 Autosomal recessive 612304 Thrombophilia due to protein C deficiency, autosomal recessive 3 +607908 LIMS2 LIM and senescent cell antigen-like domains 2 ENSG00000072163 LIMS2, PINCH2, LGMD2W mutation identified in 1 LGMD2W family Autosomal recessive 616827 Muscular dystrophy, limb-girdle, type 2W 3 +604846 HS6ST1 Heparan sulfate 6-O-sulfotransferase 1 ENSG00000136720 HS6ST1, HS6ST, HH15 Autosomal dominant 614880 Hypogonadotropic hypogonadism 15 with or without anosmia 3 +612311 Attention deficit-hyperactivity disorder, susceptibility to, 5 ADHD5 max lod at rs985162 612311 Attention deficit-hyperactivity disorder, susceptibility to, 5 2 +608316 Coronary heart disease, susceptibility to, 2 CHDS2 608316 Coronary heart disease, susceptibility to, 2 2 +606240 Nonmedullary thyroid carcinoma 3 NMTC3 Autosomal dominant 606240 Thyroid carcinoma, nonmedullary, 3 2 +613734 CCDC115 Coiled-coil domain-containing protein 115 ENSG00000136710 CCDC115, CCP1, CDG2O Autosomal recessive 616828 Congenital disorder of glycosylation, type IIo 3 +605194 CFC1 Cryptic protein ENSG00000136698 CFC1, CRYPTIC, HTX2 Autosomal dominant 605376 Heterotaxy, visceral, 2, autosomal 3 +602536 RAB3GAP1 RAB3 GTPase-activating protein, catalytic subunit ENSG00000115839 RAB3GAP1, WARBM1, P130 Autosomal recessive 600118 Warburg micro syndrome 1 3 +603202 LCT Lactase (lactase-phlorizin hydrolase) ENSG00000115850 LCT, LAC, LPH Autosomal recessive 223000 Lactase deficiency, congenital 3 +601806 MCM6 Minichromosome maintenance deficient (mis5, S. pombe) 6 ENSG00000076003 MCM6 mutations in introns 9 and 13 Autosomal recessive 223100 Lactase persistence/nonpersistence 3 +603084 DARS Aspartyl tRNA synthetase ENSG00000115866 DARS, HBSL Autosomal recessive 615281 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 3 +611535 Major affective disorder 5 MAFD5 611535 Major affective disorder 5 2 +162643 CXCR4 Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3) ENSG00000121966 CXCR4, D2S201E, NPY3R, WHIMS Myelokathexis, isolated 3 +162643 CXCR4 Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3) ENSG00000121966 CXCR4, D2S201E, NPY3R, WHIMS Autosomal dominant 193670 WHIM syndrome 3 +605238 HNMT Histamine N-methyltransferase ENSG00000150540 HNMT, MRT51 Autosomal dominant 600807 Asthma, susceptibility to 3 +605238 HNMT Histamine N-methyltransferase ENSG00000150540 HNMT, MRT51 Autosomal recessive 616739 Mental retardation, autosomal recessive 51 3 +605197 KYNU Kynureninase ENSG00000115919 KYNU, KYNUU mutation identified in 1 KYNUU family Autosomal recessive 236800 ?Hydroxykynureninuria 3 +605802 ZEB2 Zinc finger E box-binding homeobox 2 ENSG00000169554 ZEB2, ZFHX1B, SMADIP1, SIP1 Autosomal dominant 235730 Mowat-Wilson syndrome 3 +603964 DFNA16 Deafness, autosomal dominant 16 DFNA16 Autosomal dominant 603964 Deafness, autosomal dominant 16 2 +605818 DFNB27 Deafness, autosomal recessive 27 DFNB27 Autosomal recessive 605818 Deafness, autosomal recessive 27 2 +603056 ORC4 Origin recognition complex, subunit 4, S. cerevisiae, homolog of ENSG00000115947 ORC4, ORC4L Autosomal recessive 613800 Meier-Gorlin syndrome 2 3 +611472 MBD5 Methyl-CpG-binding domain protein 5 ENSG00000204406 MBD5, KIAA1461, MRD1 Autosomal dominant 156200 Mental retardation, autosomal dominant 1 3 +604593 KIF5C Kinesin family member 5C ENSG00000276734 KIF5C, NKHC2, CDCBM2 Autosomal dominant 615282 Cortical dysplasia, complex, with other brain malformations 2 3 +611935 MMADHC Chromosome 2 open reading frame 25 ENSG00000168288 C2orf25, MMADHC Autosomal recessive 277410 Homocystinuria, cblD type, variant 1 3 +611935 MMADHC Chromosome 2 open reading frame 25 ENSG00000168288 C2orf25, MMADHC Autosomal recessive 277410 Methylmalonic aciduria and homocystinuria, cblD type 3 +611935 MMADHC Chromosome 2 open reading frame 25 ENSG00000168288 C2orf25, MMADHC Autosomal recessive 277410 Methylmalonic aciduria, cblD type, variant 2 3 +161650 NEB Nebulin ENSG00000183091 NEB, NEM2 Autosomal recessive 256030 Nemaline myopathy 2, autosomal recessive 3 +601949 CACNB4 Calcium channel, voltage-dependent, beta 4 subunit ENSG00000182389 CACNB4, EJM6, EA5, EIG9 Autosomal dominant 607682 Epilepsy, idiopathic generalized, susceptibility to, 9 3 +601949 CACNB4 Calcium channel, voltage-dependent, beta 4 subunit ENSG00000182389 CACNB4, EJM6, EA5, EIG9 Autosomal dominant 607682 Epilepsy, juvenile myoclonic, susceptibility to, 6 3 +601949 CACNB4 Calcium channel, voltage-dependent, beta 4 subunit ENSG00000182389 CACNB4, EJM6, EA5, EIG9 613855 Episodic ataxia, type 5 3 +612108 Fasting plasma glucose level QTL 1 FGQTL1 associated with rs560887 612108 Fasting plasma glucose level QTL 1 2 +610295 Intelligence quantitative trait locus 3 INTLQ2 610295 Intelligence QTL3 2 +156232 Mesomelic dysplasia, Kantaputra type MMDK, MDK Autosomal dominant 156232 Mesomelic dysplasia, Kantaputra type 2 +612759 Synesthesia SYNSTH max lod at D2S142 612759 Synesthesia 2 +138430 GPD2 Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) ENSG00000115159 GPD2 pseudogene on 19 Autosomal dominant 125853 Diabetes, type 2, susceptibility to 3 +102576 ACVR1 Activin A receptor, type I ENSG00000115170 ACVR1, ACVRLK2, ALK2, FOP Autosomal dominant 135100 Fibrodysplasia ossificans progressiva 3 +147558 ITGB6 Integrin, beta-6 ENSG00000115221 ITGB6, AI1H Autosomal recessive 616221 Amelogenesis imperfecta, type IH 3 +138030 GCG Glucagon ENSG00000115263 GCG ?Hyperproglucagonemia 1 +606951 IFIH1 Interferon induced with helicase C domain 1 ENSG00000115267 IFIH1, MDA5, AGS7, SGMRT1 Autosomal dominant 615846 Aicardi-Goutieres syndrome 7 3 +606951 IFIH1 Interferon induced with helicase C domain 1 ENSG00000115267 IFIH1, MDA5, AGS7, SGMRT1 Autosomal dominant 182250 Singleton-Merten syndrome 1 3 +610155 Diabetes mellitus, insulin-dependent, 19 IDDM19 associated with rs1990760 610155 Diabetes mellitus, insulin-dependent, 19 2 +182390 SCN2A Sodium channel, voltage-gated, type II, alpha subunit ENSG00000136531 SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS 4 related genes on chr.2 Autosomal dominant 613721 Epileptic encephalopathy, early infantile, 11 3 +182390 SCN2A Sodium channel, voltage-gated, type II, alpha subunit ENSG00000136531 SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS 4 related genes on chr.2 Autosomal dominant 607745 Seizures, benign familial infantile, 3 3 +601756 GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 ENSG00000115339 GALNT3, HHS, HFTC Autosomal recessive 211900 Tumoral calcinosis, hyperphosphatemic, familial 3 +612014 TTC21B Tetratricopeptide repeat domain 21B ENSG00000123607 TTC21B, THM1, NPHP12, SRTD4, ATD4 Autosomal recessive, Autosomal dominant 613820 Nephronophthisis 12 3 +612014 TTC21B Tetratricopeptide repeat domain 21B ENSG00000123607 TTC21B, THM1, NPHP12, SRTD4, ATD4 Autosomal recessive 613819 Short-rib thoracic dysplasia 4 with or without polydactyly 3 +182389 SCN1A Sodium channel, voltage-gated, type I, alpha polypeptide ENSG00000144285 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 Autosomal dominant 607208 Dravet syndrome 3 +182389 SCN1A Sodium channel, voltage-gated, type I, alpha polypeptide ENSG00000144285 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 Autosomal dominant 604403 Epilepsy, generalized, with febrile seizures plus, type 2 3 +182389 SCN1A Sodium channel, voltage-gated, type I, alpha polypeptide ENSG00000144285 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 Autosomal dominant 604403 Febrile seizures, familial, 3A 3 +182389 SCN1A Sodium channel, voltage-gated, type I, alpha polypeptide ENSG00000144285 SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3 Autosomal dominant 609634 Migraine, familial hemiplegic, 3 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 607208 Dravet syndrome, modifier of 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 613863 Epilepsy, generalized, with febrile seizures plus, type 7 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 133020 Erythermalgia, primary 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 613863 Febrile seizures, familial, 3B 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal recessive 243000 HSAN2D, autosomal recessive 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal recessive 243000 Insensitivity to pain, congenital 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 167400 Paroxysmal extreme pain disorder, 3 +603415 SCN9A Sodium channel, voltage-gated, type IX, alpha subunit ENSG00000169432 SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D Autosomal dominant 133020 Small fiber neuropathy 3 +613681 Chromosome 2q31.1 duplication syndrome DUP2q31.1, C2DUPq31.1 duplication of 9 HOXD genes and MTX2 Autosomal dominant 613681 Chromosome 2q31.1 duplication syndrome 4 +600321 IDDM7 Insulin-dependent diabetes mellitus-7 IDDM7 600321 Diabetes mellitus, insulin-dependent, 7 2 +611147 Paroxysmal nonkinesigenic dyskinesia 2 PNKD2 between D2S2188 and D2S364 Autosomal dominant 611147 Paroxysmal nonkinesigenic dyskinesia 2 2 +606708 SHFM5 Split-hand/foot malformation 5 SHFM5 between EVX2 and D2S294 606708 Split-hand/foot malformation 5 2 +603201 ABCB11 ATP-binding cassette, subfamily B, member 11 (bile salt export pump) ENSG00000073734 ABCB11, BSEP, SPGP, PFIC2, BRIC2 Autosomal recessive 605479 Cholestasis, benign recurrent intrahepatic, 2 3 +603201 ABCB11 ATP-binding cassette, subfamily B, member 11 (bile salt export pump) ENSG00000073734 ABCB11, BSEP, SPGP, PFIC2, BRIC2 Autosomal recessive 601847 Cholestasis, progressive familial intrahepatic 2 3 +600073 LRP2 Low density lipoprotein-related protein 2 ENSG00000081479 LRP2, DBS Autosomal recessive 222448 Donnai-Barrow syndrome 3 +603650 BBS5 BBS gene 5 ENSG00000163093 BBS5 Autosomal recessive 615983 Bardet-Biedl syndrome 5 3 +607701 KLHL41 Kelch-like family member 41 ENSG00000239474 KLHL41, KBTBD10, SARCOSIN, NEM9 Autosomal recessive 615731 Nemaline myopathy 9 3 +605363 GAD1 Glutamate decarboxylase-1, brain, 67kD ENSG00000128683 GAD1, SCP, CPSQ1 mutation identified in 1 CPSQ1 family Autosomal recessive 603513 ?Cerebral palsy, spastic quadriplegic, 1 3 +612515 DCAF17 DDB1- and CUL4-associated factor 17 ENSG00000115827 DCAF17, C20orf37 Autosomal recessive 241080 Woodhouse-Sakati syndrome 3 +603667 SLC25A12 Solute carrier family 25 (mitochondrial carrier, Aralar), member 12 ENSG00000115840 SLC25A12, ARALAR, EIEE39 Autosomal recessive 612949 Epileptic encephalopathy, early infantile, 39 3 +147556 ITGA6 Integrin, alpha-6 ENSG00000091409 ITGA6 Autosomal recessive 226730 Epidermolysis bullosa, junctional, with pyloric stenosis 3 +609479 Leucine zipper- and sterile alpha motif-containing kinase ENSG00000091436 ZAK, MLTK, MRK, SFMMP Autosomal recessive 616890 Split-foot malformation with mesoaxial polydactyly 3 +609937 CDCA7 Cell division cycle-associated 7 ENSG00000144354 CDCA7, JPO1, ICF3 616910 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 3 +602357 WIPF1 WAS/WASL-interacting protein family, member 1 ENSG00000115935 WIPF1, WASPIP, WIP, WAS2 mutation identified in 1 WAS2 patient 614493 ?Wiskott-Aldrich syndrome 2 3 +100690 CHRNA1 Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle ENSG00000138435 CHRNA1, ACHRD, CMS1B, CMS1A Autosomal recessive 253290 Multiple pterygium syndrome, lethal type 3 +100690 CHRNA1 Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle ENSG00000138435 CHRNA1, ACHRD, CMS1B, CMS1A Autosomal dominant 601462 Myasthenic syndrome, congenital, 1A, slow-channel 3 +100690 CHRNA1 Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle ENSG00000138435 CHRNA1, ACHRD, CMS1B, CMS1A Autosomal recessive, Autosomal dominant 608930 Myasthenic syndrome, congenital, 1B, fast-channel 3 +118423 CHN1 Chimerin 1 (GTPase-activating protein, rho, 2) ENSG00000128656 CHN1, CHN, ARHGAP2, RHOGAP2, DURS2 604356 Duane retraction syndrome 2 3 +142989 HOXD13 Homeo box-D13 ENSG00000128714 HOXD13, HOX4I, SPD1, BDSD mutation identified in 1 BDSD family Autosomal dominant 113200 Brachydactyly, type D 3 +142989 HOXD13 Homeo box-D13 ENSG00000128714 HOXD13, HOX4I, SPD1, BDSD mutation identified in 1 BDSD family Autosomal dominant 113300 Brachydactyly, type E 3 +142989 HOXD13 Homeo box-D13 ENSG00000128714 HOXD13, HOX4I, SPD1, BDSD mutation identified in 1 BDSD family 610713 ?Brachydactyly-syndactyly syndrome 3 +142989 HOXD13 Homeo box-D13 ENSG00000128714 HOXD13, HOX4I, SPD1, BDSD mutation identified in 1 BDSD family Autosomal dominant 186300 Syndactyly, type V 3 +142989 HOXD13 Homeo box-D13 ENSG00000128714 HOXD13, HOX4I, SPD1, BDSD mutation identified in 1 BDSD family Autosomal dominant 186000 Synpolydactyly 1 3 +142984 HOXD10 Homeo box-D10 ENSG00000128710 HOXD10, HOX4D Autosomal dominant 192950 Charcot-Marie-Tooth disease, foot deformity of 3 +142984 HOXD10 Homeo box-D10 ENSG00000128710 HOXD10, HOX4D Autosomal dominant 192950 Vertical talus, congenital 3 +612345 Chromosome 2q31.2 deletion syndrome DEL2q31 contiguous gene deletion syndrome 612345 Chromosome 2q31.2 deletion syndrome 4 +603051 AGPS Alkylglycerone-phosphate synthase ENSG00000018510 AGPS, ADHAPS, RCDP3 Autosomal recessive 600121 Rhizomelic chondrodysplasia punctata, type 3 3 +604961 PDE11A Phosphodiesterase 11A ENSG00000128655 PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 Autosomal dominant 610475 Pigmented nodular adrenocortical disease, primary, 2 3 +603424 PRKRA Protein kinase, interferon-inducible double-stranded RNA-dependent activator ENSG00000180228 PRKRA, PACT, RAX, DYT16 Autosomal recessive 612067 Dystonia 16 3 +610219 DFNB59 Pejvakin ENSG00000204311 PJVK, DFNB59 Autosomal recessive 610220 Deafness, autosomal recessive 59 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC 604145 Cardiomyopathy, dilated, 1G 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC 613765 Cardiomyopathy, familial hypertrophic, 9 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC Autosomal recessive 608807 Muscular dystrophy, limb-girdle, type 2J 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC Autosomal recessive 611705 Myopathy, early-onset, with fatal cardiomyopathy 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC 603689 Myopathy, proximal, with early respiratory muscle involvement 3 +188840 TTN Titin ENSG00000155657 TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC Autosomal dominant 600334 Tibial muscular dystrophy, tardive 3 +187370 Arthrogryposis, distal, type 10 DA10 max lod at D2S364 Autosomal dominant 187370 Arthrogryposis, distal, type 10 2 +608381 CERKL Ceramide kinase-like ENSG00000188452 CERKL, RP26 608380 Retinitis pigmentosa 26 3 +601724 NEUROD1 Neurogenic differentiation 1 ENSG00000162992 NEUROD1, NIDDM Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +601724 NEUROD1 Neurogenic differentiation 1 ENSG00000162992 NEUROD1, NIDDM 606394 Maturity-onset diabetes of the young 6 3 +602087 ARVD4 Arrhythmogenic right ventricular dysplasia 4 ARVD4 Autosomal dominant 602087 Arrhythmogenic right ventricular dysplasia 4 2 +612361 Schizophrenia 14 SCZD14 612361 Schizophrenia, susceptibility to, 14 2 +605083 FRZB Frizzled-related protein ENSG00000162998 FRZB, FRZB1, SRFP3, OS1 Multifactorial 165720 Osteoarthritis susceptibility 1 3 +120180 COL3A1 Collagen III, alpha-1 polypeptide ENSG00000168542 COL3A1 in same 35kb segment as COL5A2 Autosomal dominant 130050 Ehlers-Danlos syndrome, type IV 3 +120190 COL5A2 Collagen V, alpha-2 polypeptide ENSG00000204262 COL5A2, EDSC very close to COL3A1 Autosomal dominant 130000 Ehlers-Danlos syndrome, classic type 3 +604653 SLC40A1 Solute carrier family 40 (iron-regulated transporter), member 1 ENSG00000138449 SLC40A1, SLC11A3, FPN1, IREG1, HFE4 606069 Hemochromatosis, type 4 3 +601788 MSTN Growth differentiation factor-8 (myostatin) ENSG00000138379 GDF8, MSTN, MSLHP 614160 Muscle hypertrophy 3 +610690 HIBCH 3-hydroxyisobutyryl-CoA hydrolase ENSG00000198130 HIBCH Autosomal recessive 250620 3-hydroxyisobutryl-CoA hydrolase deficiency 3 +600555 STAT1 Signal transducer and activator of transcription-1 ENSG00000115415 STAT1, CANDF7, IMD31A, IMD31B, IMD31C Autosomal dominant 614892 Immunodeficiency 31A, mycobacteriosis, autosomal dominant 3 +600555 STAT1 Signal transducer and activator of transcription-1 ENSG00000115415 STAT1, CANDF7, IMD31A, IMD31B, IMD31C Autosomal recessive 613796 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 3 +600555 STAT1 Signal transducer and activator of transcription-1 ENSG00000115415 STAT1, CANDF7, IMD31A, IMD31B, IMD31C Autosomal dominant 614162 Immunodeficiency 31C, autosomal dominant 3 +600558 STAT4 Signal transducer and activator of transcription-4 ENSG00000138378 STAT4, SLEB11 612253 Systemic lupus erythematosus, susceptibility to, 11 3 +612586 Aneurysm, intracranial berry, 9 ANIB9 associated with rs700651 612586 Aneurysm, intracranial berry, 9 2 +614280 Epilepsy, juvenile myoclonic, susceptibility to, 9 EJM9 max lod at D2S2248 Autosomal dominant 614280 Epilepsy, juvenile myoclonic, susceptibility to, 9 2 +610439 Restless legs syndrome, susceptibility to, 4 RLS4 between D2S311 and D2S317 610439 Restless legs syndrome 4 2 +611655 PGAP1 Post-GPI attachment to proteins 1 ENSG00000197121 PGAP1, MRT42 Autosomal recessive 615802 Mental retardation, autosomal recessive 42 3 +605590 SF3B1 Splicing factor 3B, subunit 1 ENSG00000115524 SF3B1, SF3B155, SAP155, MDS 614286 Myelodysplastic syndrome, somatic 3 +118190 HSPD1 Heat-shock 60kD protein 1 ENSG00000144381 HSPD1, SPG13, HSP60, HLD4 Autosomal recessive 612233 Leukodystrophy, hypomyelinating, 4 3 +118190 HSPD1 Heat-shock 60kD protein 1 ENSG00000144381 HSPD1, SPG13, HSP60, HLD4 Autosomal dominant 605280 Spastic paraplegia 13, autosomal dominant 3 +609728 MARS2 Methionyl-tRNA synthetase 2 ENSG00000247626 MARS2, SPAX3, COXPD25 mutation identified in 1 COXPD25 family Autosomal recessive 616430 ?Combined oxidative phosphorylation deficiency 25 3 +609728 MARS2 Methionyl-tRNA synthetase 2 ENSG00000247626 MARS2, SPAX3, COXPD25 mutation identified in 1 COXPD25 family Autosomal recessive 611390 Spastic ataxia 3, autosomal recessive 3 +608148 SATB2 Special AT-rich sequence-binding protein 2 ENSG00000119042 SATB2, KIAA1034, GLSS Autosomal dominant 612313 Glass syndrome 3 +603839 NDUFB3 NADH-ubiquinone oxidoreductase 1 beta subcomplex, 3 ENSG00000119013 NDUFB3 pseudogenes on chr. 1, 9, and 14 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +601762 CASP10 Caspase 10, apoptosis-related cysteine protease ENSG00000003400 CASP10, MCH4, ALPS2 Autosomal dominant 603909 Autoimmune lymphoproliferative syndrome, type II 3 +601762 CASP10 Caspase 10, apoptosis-related cysteine protease ENSG00000003400 CASP10, MCH4, ALPS2 613659 Gastric cancer, somatic 3 +601762 CASP10 Caspase 10, apoptosis-related cysteine protease ENSG00000003400 CASP10, MCH4, ALPS2 605027 Lymphoma, non-Hodgkin, somatic 3 +601763 CASP8 Caspase 8, apoptosis-related cysteine protease ENSG00000064012 CASP8, MCH5, ALPS2B mutation identified in 1 ALPS2B family Autosomal recessive 607271 ?Autoimmune lymphoproliferative syndrome, type IIB 3 +601763 CASP8 Caspase 8, apoptosis-related cysteine protease ENSG00000064012 CASP8, MCH5, ALPS2B mutation identified in 1 ALPS2B family Autosomal dominant 114480 Breast cancer, protection against 3 +601763 CASP8 Caspase 8, apoptosis-related cysteine protease ENSG00000064012 CASP8, MCH5, ALPS2B mutation identified in 1 ALPS2B family 114550 Hepatocellular carcinoma, somatic 3 +601763 CASP8 Caspase 8, apoptosis-related cysteine protease ENSG00000064012 CASP8, MCH5, ALPS2B mutation identified in 1 ALPS2B family Autosomal recessive 211980 Lung cancer, protection against 3 +614423 TMEM237 Transmembrane protein 237 ENSG00000155755 TMEM237, ALS2CR4, JBTS14 Autosomal recessive 614424 Joubert syndrome 14 3 +606352 ALS2 Alsin ENSG00000003393 ALS2, ALSJ, PLSJ, IAHSP Autosomal recessive 205100 Amyotrophic lateral sclerosis 2, juvenile 3 +606352 ALS2 Alsin ENSG00000003393 ALS2, ALSJ, PLSJ, IAHSP Autosomal recessive 606353 Primary lateral sclerosis, juvenile 3 +606352 ALS2 Alsin ENSG00000003393 ALS2, ALSJ, PLSJ, IAHSP Autosomal recessive 607225 Spastic paralysis, infantile onset ascending 3 +601912 SUMO1 Small ubiquitin-like modifier 1 ENSG00000116030 SUMO1, UBL1, SMT3, OFC10 613705 Orofacial cleft 10 3 +600799 BMPR2 Bone morphogenetic receptor, type II ENSG00000204217 BMPR2, PPH1, POVD1 Autosomal dominant 178600 Pulmonary hypertension, familial primary, 1, with or without HHT 3 +600799 BMPR2 Bone morphogenetic receptor, type II ENSG00000204217 BMPR2, PPH1, POVD1 Autosomal dominant 178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated 3 +600799 BMPR2 Bone morphogenetic receptor, type II ENSG00000204217 BMPR2, PPH1, POVD1 Autosomal dominant 265450 Pulmonary venoocclusive disease 1 3 +123890 CTLA4 Cytotoxic T-lymphocyte-associated serine esterase-4 ENSG00000163599 CTLA4, IDDM12, CELIAC3, ALPS5 Autosomal dominant 616100 Autoimmune lymphoproliferative syndrome, type V 3 +123890 CTLA4 Cytotoxic T-lymphocyte-associated serine esterase-4 ENSG00000163599 CTLA4, IDDM12, CELIAC3, ALPS5 609755 Celiac disease, susceptibility to, 3 3 +123890 CTLA4 Cytotoxic T-lymphocyte-associated serine esterase-4 ENSG00000163599 CTLA4, IDDM12, CELIAC3, ALPS5 601388 Diabetes mellitus, insulin-dependent, 12 3 +123890 CTLA4 Cytotoxic T-lymphocyte-associated serine esterase-4 ENSG00000163599 CTLA4, IDDM12, CELIAC3, ALPS5 Autosomal dominant 140300 Hashimoto thyroiditis 3 +123890 CTLA4 Cytotoxic T-lymphocyte-associated serine esterase-4 ENSG00000163599 CTLA4, IDDM12, CELIAC3, ALPS5 Autosomal dominant 152700 Systemic lupus erythematosus, susceptibility to 3 +604558 ICOS Inducible costimulator ENSG00000163600 ICOS, AILIM, CVID1 Autosomal recessive 607594 Immunodeficiency, common variable, 1 3 +610839 Osteoarthritis susceptibility 4 OS4, GOA1 max lod at D2S2358 610839 Osteoarthritis susceptibility 4 2 +157655 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kD ENSG00000283447 NDUFS1 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +612322 FASTKD2 FAST kinase domains 2 ENSG00000118246 FASTKD2, KIAA0971 mutation identified in 1 family Autosomal recessive, Mitochondrial 220110 ?Mitochondrial complex IV deficiency 3 +123810 CREB1 cAMP-response element-binding protein-1 ENSG00000118260 CREB1 fusion gene with EWSR1 612160 Histiocytoma, angiomatoid fibrous, somatic 3 +123690 CRYGD Crystallin, gamma D ENSG00000118231 CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC Autosomal dominant 115700 Cataract 4, multiple types 3 +123680 CRYGC Crystallin, gamma C ENSG00000163254 CRYGC, CRYG3, CTRCT2, CCL Autosomal dominant 604307 Cataract 2, multiple types 3 +123670 CRYGB Crystallin, gamma B ENSG00000182187 CRYGB, CRYG2, CTRCT39 Autosomal dominant 615188 Cataract 39, multiple types, autosomal dominant 3 +185900 Chromosome 2q35 duplication syndrome (syndactyly, type I) DUP2q35, C2DUPq35, SDTY1, SD1 Autosomal dominant 185900 Syndactyly, type 1, with or without craniosynostosis 4 +601318 IDDM13 Insulin-dependent diabetes mellitus-13 IDDM13 601318 Diabetes mellitus, insulin-dependent, 13 2 +607966 SLEN2 Systemic lupus erythematosus with nephritis, susceptibility to, 2 SLEN2 607966 Systemic lupus erythematosus with nephritis, susceptibility to, 2 2 +186860 TCL4 T-cell leukemia/lymphoma-4 TCL4 186860 Leukemia/lymphoma, T-cell 2 +147700 IDH1 Isocitrate dehydrogenase, soluble ENSG00000138413 IDH1 137800 Glioma, susceptibility to, somatic 3 +609414 PIKFYVE Phosphatidylinositol kinase, FYVE-finger containing ENSG00000115020 PIKFYVE, PIP5K3 Autosomal dominant 121850 Corneal fleck dystrophy 3 +612636 UNC80 Unc-80 homolog, NALCN activator ENSG00000144406 UNC80, C2orf21, KIAA1843 Autosomal recessive 616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 3 +608307 CPS1 Carbamoyl-phosphate synthetase 1, mitochondrial ENSG00000021826 CPS1, PHN urea cycle enzyme Autosomal recessive 237300 Carbamoylphosphate synthetase I deficiency 3 +608307 CPS1 Carbamoyl-phosphate synthetase 1, mitochondrial ENSG00000021826 CPS1, PHN urea cycle enzyme 615371 Pulmonary hypertension, neonatal, susceptibility to 3 +608307 CPS1 Carbamoyl-phosphate synthetase 1, mitochondrial ENSG00000021826 CPS1, PHN urea cycle enzyme Venoocclusive disease after bone marrow transplantation 3 +600543 ERBB4 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 ENSG00000178568 ERBB4, HER4, ALS19 Autosomal dominant 615515 Amyotrophic lateral sclerosis 19 3 +607949 Mycobacterium tuberculosis, susceptibility to infection by MTBS1 607949 Tuberculosis, susceptibility to 2 +613016 Neuroblastoma, susceptibility to, 5 NBLST5 associated with rs6435862, rs3768716 613016 Neuroblastoma, susceptibility to, 5 2 +609153 Pseudohyperkalemia, familial, 2, due to red cell leak PSHK2 max lod at D2S1338 Autosomal dominant 609153 Pseudohyperkalemia, familial, 2, due to red cell leak 2 +601593 BARD1 BRCA1-associated RING domain 1 ENSG00000138376 BARD1 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +607800 ABCA12 ATP-binding cassette, subfamily A, member 12 ENSG00000144452 ABCA12, ARCI4A, ARCI4B, ICR2B, LI2 Autosomal recessive 242500 Ichthyosis, autosomal recessive 4B (harlequin) 3 +607800 ABCA12 ATP-binding cassette, subfamily A, member 12 ENSG00000144452 ABCA12, ARCI4A, ARCI4B, ICR2B, LI2 Autosomal recessive 601277 Ichthyosis, congenital, autosomal recessive 4A 3 +601731 ATIC 5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP cyclohydrolase ENSG00000138363 ATIC, PURH, AICAR Autosomal recessive 608688 AICA-ribosiduria due to ATIC deficiency 3 +135600 FN1 Fibronectin-1 ENSG00000115414 FN1, FN, LETS, FNZ, GFND2 Autosomal dominant 601894 Glomerulopathy with fibronectin deposits 2 3 +135600 FN1 Fibronectin-1 ENSG00000115414 FN1, FN, LETS, FNZ, GFND2 Autosomal dominant 614101 Plasma fibronectin deficiency 1 +606622 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like ENSG00000138375 SMARCAL1, HARP, SIOD Autosomal recessive 242900 Schimke immunoosseous dysplasia 3 +146929 CXCR1 Chemokine, CXC motif, receptor 1 ENSG00000163464 CXCR1, IL8RA 609423 AIDS, slow progression to 3 +609023 PNKD Myofibrillogenesis regulator 1 ENSG00000127838 MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8 Autosomal dominant 118800 Paroxysmal nonkinesigenic dyskinesia 3 +600266 SLC11A1 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 ENSG00000018280 NRAMP1, NRAMP, SLC11A1 within 220 kb of VIL1 610446 Buruli ulcer, susceptibility to 3 +600266 SLC11A1 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 ENSG00000018280 NRAMP1, NRAMP, SLC11A1 within 220 kb of VIL1 607948 Mycobacterium tuberculosis, susceptibility to infection by 3 +193040 VIL1 Villin-1 ENSG00000127831 VIL1 Cholestasis, progressive canalicular 1 +603647 BCS1L bcs1, S. cerevisiae, homolog-like ENSG00000074582 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 Autosomal recessive 262000 Bjornstad syndrome 3 +603647 BCS1L bcs1, S. cerevisiae, homolog-like ENSG00000074582 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 603358 GRACILE syndrome 3 +603647 BCS1L bcs1, S. cerevisiae, homolog-like ENSG00000074582 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 Autosomal recessive, Mitochondrial 256000 Leigh syndrome 3 +603647 BCS1L bcs1, S. cerevisiae, homolog-like ENSG00000074582 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 Autosomal recessive 124000 Mitochondrial complex III deficiency, nuclear type 1 3 +606530 CYP27A1 Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol 27-hydroxylase) ENSG00000135929 CYP27A1, CYP27, CTX Autosomal recessive 213700 Cerebrotendinous xanthomatosis 3 +606268 WNT10A Wingless-type MMTV integration site family, member 10A ENSG00000135925 WNT10A, SSPS, STHAG4, OODD Autosomal recessive 257980 Odontoonychodermal dysplasia 3 +606268 WNT10A Wingless-type MMTV integration site family, member 10A ENSG00000135925 WNT10A, SSPS, STHAG4, OODD Autosomal recessive 224750 Schopf-Schulz-Passarge syndrome 3 +606268 WNT10A Wingless-type MMTV integration site family, member 10A ENSG00000135925 WNT10A, SSPS, STHAG4, OODD Autosomal dominant 150400 Tooth agenesis, selective, 4 3 +600836 CRYBA2 Crystallin, beta A2 ENSG00000163499 CRYBA2, CTRCT42 mutation identified in 1 CTRCT42 family Autosomal dominant 115900 ?Cataract 42 3 +600726 IHH Indian hedgehog ENSG00000163501 IHH, BDA1 Autosomal recessive 607778 Acrocapitofemoral dysplasia 3 +600726 IHH Indian hedgehog ENSG00000163501 IHH, BDA1 Autosomal dominant 112500 Brachydactyly, type A1 3 +611290 NHEJ1 Nonhomologous end-joining factor 1 ENSG00000187736 NHEJ1, XLF 611291 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 3 +605452 ABCB6 ATP-binding cassette, subfamily B, member 6 ENSG00000115657 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 111600 Blood group, Langereis system 3 +605452 ABCB6 ATP-binding cassette, subfamily B, member 6 ENSG00000115657 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 Autosomal dominant 615402 Dyschromatosis universalis hereditaria 3 3 +605452 ABCB6 ATP-binding cassette, subfamily B, member 6 ENSG00000115657 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 Autosomal dominant 614497 Microphthalmia, isolated, with coloboma 7 3 +605452 ABCB6 ATP-binding cassette, subfamily B, member 6 ENSG00000115657 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 Autosomal dominant 609153 Pseudohyperkalemia, familial, 2, due to red cell leak 3 +191110 TUBA4A Tubulin, alpha-4A ENSG00000127824 TUBA4A, TUBA1, ALS22 Autosomal dominant 616208 Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia 3 +604139 DNAJB2 DnaJ, E. coli, homolog of, subfamily B, member 2 (heat-shock protein, DNAJ-like 1) ENSG00000135924 DNAJB2, HSJ1, HSPF3, DSMA5 Autosomal recessive 614881 Spinal muscular atrophy, distal, autosomal recessive, 5 3 +125660 DES Desmin ENSG00000175084 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R 1 family with LGMD2R identified with mutation 604765 Cardiomyopathy, dilated, 1I 3 +125660 DES Desmin ENSG00000175084 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R 1 family with LGMD2R identified with mutation Autosomal recessive 615325 ?Muscular dystrophy, limb-girdle, type 2R 3 +125660 DES Desmin ENSG00000175084 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R 1 family with LGMD2R identified with mutation Autosomal recessive, Autosomal dominant 601419 Myopathy, myofibrillar, 1 3 +125660 DES Desmin ENSG00000175084 DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R 1 family with LGMD2R identified with mutation Autosomal dominant 181400 Scapuloperoneal syndrome, neurogenic, Kaeser type 3 +615950 SPEG SPEG complex locus ENSG00000072195 SPEG, APEG1, CNM5 Autosomal recessive 615959 Centronuclear myopathy 5 3 +615495 GMPPA GDP-mannose pyrophosphorylase A ENSG00000144591 GMPPA, AAMR Autosomal recessive 615510 Alacrima, achalasia, and mental retardation syndrome 3 +610991 OBSL1 Obscurin-like 1 ENSG00000124006 OBSL1, KIAA0657, 3M2 612921 3-M syndrome 2 3 +102510 Acropectorovertebral dysplasia (F syndrome) ACRPV Autosomal dominant 102510 Acropectorovertebral dysplasia 2 +613944 IgA nephropathy, susceptibility to, 2 IGAN2 between D2S1323 adn D2S362 ?Autosomal dominant 613944 IgA nephropathy, susceptibility to, 2 2 +613238 Spondyloarthropathy, susceptibility to, 3 SPDA3 max lod at D2S2228 613238 Spondyloarthropathy, susceptibility to, 3 2 +606597 PAX3 Paired box homeotic gene-3 ENSG00000135903 PAX3, WS1, HUP2, CDHS, WS3 Autosomal dominant 122880 Craniofacial-deafness-hand syndrome 3 +606597 PAX3 Paired box homeotic gene-3 ENSG00000135903 PAX3, WS1, HUP2, CDHS, WS3 Autosomal recessive 268220 Rhabdomyosarcoma 2, alveolar 3 +606597 PAX3 Paired box homeotic gene-3 ENSG00000135903 PAX3, WS1, HUP2, CDHS, WS3 Autosomal dominant 193500 Waardenburg syndrome, type 1 3 +606597 PAX3 Paired box homeotic gene-3 ENSG00000135903 PAX3, WS1, HUP2, CDHS, WS3 Autosomal recessive, Autosomal dominant 148820 Waardenburg syndrome, type 3 3 +615781 AP1S3 Adaptor-related protein complex 1, sigma-3 subunit ENSG00000152056 AP1S3, PSORS15 Autosomal dominant 616106 Psoriasis 15, pustular, susceptibility to 3 +611849 MRPL44 Mitochondrial ribosomal protein L44 ENSG00000135900 MRPL44, COXPD16 Mutation identified in 1 family Autosomal recessive 615395 ?Combined oxidative phosphorylation deficiency 16 3 +613658 Rajab syndrome RJBS between D2S351 and D2S2390 Autosomal recessive 613658 Rajab syndrome 2 +603136 CUL3 Cullin 3 ENSG00000036257 CUL3, PHA2E Autosomal dominant 614496 Pseudohypoaldosteronism, type IIE 3 +147545 IRS1 Insulin receptor substrate-1 ENSG00000169047 IRS1 Coronary artery disease, susceptibility to 3 +147545 IRS1 Insulin receptor substrate-1 ENSG00000169047 IRS1 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +120131 COL4A4 Collagen IV, alpha-4 polypeptide ENSG00000081052 COL4A4 head-to-head with COL4A4 in same YAC Autosomal recessive 203780 Alport syndrome, autosomal recessive 3 +120131 COL4A4 Collagen IV, alpha-4 polypeptide ENSG00000081052 COL4A4 head-to-head with COL4A4 in same YAC Hematuria, familial benign 3 +120070 COL4A3 Collagen IV, alpha-3 polypeptide (Goodpasture antigen) ENSG00000169031 COL4A3 noncollagenous domain = Goodpasture antigen Autosomal dominant 104200 Alport syndrome, autosomal dominant 3 +120070 COL4A3 Collagen IV, alpha-3 polypeptide (Goodpasture antigen) ENSG00000169031 COL4A3 noncollagenous domain = Goodpasture antigen Autosomal recessive 203780 Alport syndrome, autosomal recessive 3 +120070 COL4A3 Collagen IV, alpha-3 polypeptide (Goodpasture antigen) ENSG00000169031 COL4A3 noncollagenous domain = Goodpasture antigen Autosomal dominant 141200 Hematuria, benign familial 3 +614785 MFF Mitochondrial fission factor ENSG00000168958 MFF, C2orf33, EMPF2 Autosomal recessive 617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 3 +615404 TM4SF20 Transmembrane 4 L6 family, member 20 ENSG00000168955 TM4SF20, SLI5 Autosomal dominant 615432 Specific language impairment 5 3 +606152 SLC19A3 Solute carrier family 19 (folate transporter), member 3 ENSG00000135917 SLC19A3, THMD2, BBGD Autosomal recessive 607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 3 +600430 Chromosome 2q37 deletion syndrome BDMR, C2DELq37, DEL2q37 Autosomal dominant 600430 Chromosome 2q37 deletion syndrome 4 +605934 Holoprosencephaly 6 HPE6 605934 Holoprosencephaly 6 2 +606656 Basal ganglia calcification, idiopathic, 2 IBGC2 606656 Basal ganglia calcification, idiopathic, 2 2 +609995 MYP12 Myopia 12 MYP12 max lod at D2S2344 609995 Myopia 12 2 +613440 Stature quantitative trait locus 21 STQTL21 associated with rs6717918 613440 Stature QTL 21 2 +604457 SP110 SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD) ENSG00000135899 SP110, IFI41, IFI75, VODI Autosomal recessive 235550 Hepatic venoocclusive disease with immunodeficiency 3 +604457 SP110 SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD) ENSG00000135899 SP110, IFI41, IFI75, VODI 607948 Mycobacterium tuberculosis, susceptibility to 3 +602676 PDE6D Phosphodiesterase 6D, cGMP-specific, rod, delta ENSG00000156973 PDE6D, JBTS22 mutation identified in 1 JBTS22 family Autosomal recessive 615665 ?Joubert syndrome 22 3 +614184 DIS3L2 Dis3 mitotic control, S. cerevisiae, homolog-like 2 ENSG00000144535 DIS3L2, PRLMNS Autosomal recessive 267000 Perlman syndrome 3 +605896 ECEL1 Endothelin-converting enzyme-like 1 ENSG00000171551 ECEL1, XCE, DA5D Autosomal recessive 615065 Arthrogryposis, distal, type 5D 3 +613858 PRSS56 Protease, serine, 56 ENSG00000237412 PRSS56, MCOP6 Autosomal recessive 613517 Microphthalmia, isolated 6 3 +100720 CHRND Cholinergic receptor, nicotinic, delta polypeptide ENSG00000135902 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C mutation identified in 1 CMS3A patient and 1 CMS3C family Autosomal recessive 253290 Multiple pterygium syndrome, lethal type 3 +100720 CHRND Cholinergic receptor, nicotinic, delta polypeptide ENSG00000135902 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C mutation identified in 1 CMS3A patient and 1 CMS3C family Autosomal dominant 616321 ?Myasthenic syndrome, congenital, 3A, slow-channel 3 +100720 CHRND Cholinergic receptor, nicotinic, delta polypeptide ENSG00000135902 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C mutation identified in 1 CMS3A patient and 1 CMS3C family Autosomal recessive 616322 Myasthenic syndrome, congenital, 3B, fast-channel 3 +100720 CHRND Cholinergic receptor, nicotinic, delta polypeptide ENSG00000135902 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C mutation identified in 1 CMS3A patient and 1 CMS3C family Autosomal recessive 616323 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 3 +100730 CHRNG Cholinergic receptor, nicotinic, gamma polypeptide ENSG00000196811 CHRNG, ACHRG tightly linked to CHRND by RE Autosomal recessive 265000 Escobar syndrome 3 +100730 CHRNG Cholinergic receptor, nicotinic, gamma polypeptide ENSG00000196811 CHRNG, ACHRG tightly linked to CHRND by RE Autosomal recessive 253290 Multiple pterygium syndrome, lethal type 3 +612003 GIGYF2 GRB10-interacting GYF protein 2 ENSG00000204120 GIGYF2, KIAA0642, PARK11 607688 Parkinson disease 11 3 +603208 KCNJ13 Potassium inwardly-rectifying channel, subfamily J, member 13 ENSG00000115474 KCNJ13, SVD, LCA16 Autosomal recessive 614186 Leber congenital amaurosis 16 3 +603208 KCNJ13 Potassium inwardly-rectifying channel, subfamily J, member 13 ENSG00000115474 KCNJ13, SVD, LCA16 Autosomal dominant 193230 Snowflake vitreoretinal degeneration 3 +610767 ATG16L1 Autophagy 16-like 1 ENSG00000281089 ATG16L1, APG16L, IBD10 611081 Inflammatory bowel disease (Crohn disease) 10 3 +181031 SAG S-antigen; retina and pineal gland (arrestin) ENSG00000281857 SAG, RP47 Autosomal recessive 258100 Oguchi disease-1 3 +181031 SAG S-antigen; retina and pineal gland (arrestin) ENSG00000281857 SAG, RP47 613758 Retinitis pigmentosa 47 3 +191740 UGT1A1 UDP glycosyltransferase 1 family, polypeptide A1 ENSG00000241635 UGT1A1, UGT1, GNT1, BILIQTL1 601816 Bilirubin, serum level of, QTL1 3 +191740 UGT1A1 UDP glycosyltransferase 1 family, polypeptide A1 ENSG00000241635 UGT1A1, UGT1, GNT1, BILIQTL1 Autosomal recessive 218800 Crigler-Najjar syndrome, type I 3 +191740 UGT1A1 UDP glycosyltransferase 1 family, polypeptide A1 ENSG00000241635 UGT1A1, UGT1, GNT1, BILIQTL1 Autosomal recessive 606785 Crigler-Najjar syndrome, type II 3 +191740 UGT1A1 UDP glycosyltransferase 1 family, polypeptide A1 ENSG00000241635 UGT1A1, UGT1, GNT1, BILIQTL1 Autosomal recessive 143500 Gilbert syndrome 3 +191740 UGT1A1 UDP glycosyltransferase 1 family, polypeptide A1 ENSG00000241635 UGT1A1, UGT1, GNT1, BILIQTL1 Autosomal recessive 237900 Hyperbilirubinemia, familial transient neonatal 3 +120250 COL6A3 Collagen VI, alpha-3 polypeptide ENSG00000163359 COL6A3, DYT27, BTHLM1, UCMD1 close to CRBP1 Autosomal recessive, Autosomal dominant 158810 Bethlem myopathy 1 3 +120250 COL6A3 Collagen VI, alpha-3 polypeptide ENSG00000163359 COL6A3, DYT27, BTHLM1, UCMD1 close to CRBP1 Autosomal recessive 616411 Dystonia 27 3 +120250 COL6A3 Collagen VI, alpha-3 polypeptide ENSG00000163359 COL6A3, DYT27, BTHLM1, UCMD1 close to CRBP1 Autosomal recessive, Autosomal dominant 254090 Ullrich congenital muscular dystrophy 1 3 +606526 MLPH Melanophilin ENSG00000115648 MLPH Autosomal recessive 609227 Griscelli syndrome, type 3 3 +603426 PER2 Period, Drosophila, homolog of, 2 ENSG00000132326 PER2, FASPS1, KIAA0347 Autosomal dominant 604348 Advanced sleep phase syndrome, familial, 1 3 +607380 TRAF3IP1 TNF receptor-associated factor 3-interacting protein 1 ENSG00000204104 TRAF3IP1, MIPT3, SLSN9 Autosomal recessive 616629 Senior-Loken syndrome 9 3 +607556 TWIST2 Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) ENSG00000233608 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS Autosomal dominant 200110 Ablepharon-macrostomia syndrome 3 +607556 TWIST2 Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) ENSG00000233608 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS Autosomal dominant 209885 Barber-Say syndrome 3 +607556 TWIST2 Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) ENSG00000233608 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS Autosomal recessive 227260 Focal facial dermal dysplasia 3, Setleis type 3 +603835 NDUFA10 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 ENSG00000281434 NDUFA10 mutation identified in 1 Leigh syndrome patient Autosomal recessive, Mitochondrial 256000 ?Leigh syndrome 3 +605286 CAPN10 Calpain-10 ENSG00000142330 CAPN10, NIDDM1 601283 Diabetes mellitus, noninsulin-dependent 1 3 +601255 KIF1A Kinesin family member 1A ENSG00000130294 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 incorrectly assigned to chr.9 Autosomal dominant 614255 Mental retardation, autosomal dominant 9 3 +601255 KIF1A Kinesin family member 1A ENSG00000130294 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 incorrectly assigned to chr.9 Autosomal recessive 614213 Neuropathy, hereditary sensory, type IIC 3 +601255 KIF1A Kinesin family member 1A ENSG00000130294 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 incorrectly assigned to chr.9 Autosomal recessive 610357 Spastic paraplegia 30, autosomal recessive 3 +604285 AGXT Alanine-glyoxylate aminotransferase, liver-specific peroxisomal ENSG00000172482 AGXT, SPAT Autosomal recessive 259900 Hyperoxaluria, primary, type 1 3 +609186 D2HGDH D-2-hydroxyglutarate dehydrogenase ENSG00000180902 D2HGDH, D2HGD Autosomal recessive 600721 D-2-hydroxyglutaric aciduria 3 +600244 PDCD1 Programmed cell death 1 ENSG00000276977 PDCD1, SLEB2 Multifactorial 126200 Multiple sclerosis, disease progression, modifier of 3 +600244 PDCD1 Programmed cell death 1 ENSG00000276977 PDCD1, SLEB2 605218 Systemic lupus erythematosus, susceptibility to, 2 3 +607135 Creatinine clearance QTL CRCL in African Americans 607135 Creatinine clearance QTL 2 +613792 3p- syndrome (chromosome 3pter-p25 deletion syndrome) DEL3pterp25, C3DELpterp25 contiguous gene deletion syndrome Autosomal dominant 613792 3p- syndrome 4 +609299 Prostate cancer, hereditary, 5 HPC5 between D3S1270 and D3S4559 Autosomal dominant 176807 Prostate cancer, hereditary, 5 2 +608448 IBD9 Inflammatory bowel disease 9 IBD9 608448 Inflammatory bowel disease 9 2 +252350 MYMY1 Moyamoya disease MYMY1, MYMY max lod at D3S3050 Autosomal recessive 252350 Moyamoya disease 2 +608982 Stature quantitative trait locus 5 STQTL5 max lod between D3S1297 and D3S1304 608982 Stature QTL 5 2 +612907 TRNT1 tRNA nucleotidyltransferase, CCA-adding, 1 ENSG00000072756 TRNT1, SIFD, RPEM pseudogenes on chromosomes 1 and 22 Autosomal recessive 616959 Retinitis pigmentosa and erythrocytic microcytosis 3 +612907 TRNT1 tRNA nucleotidyltransferase, CCA-adding, 1 ENSG00000072756 TRNT1, SIFD, RPEM pseudogenes on chromosomes 1 and 22 Autosomal recessive 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 3 +609262 CRBN Cereblon ENSG00000113851 CRBN, MRT2 between D3S3525 and D3S1560 Autosomal recessive 607417 Mental retardation, autosomal recessive 2 3 +612976 Age-related hearing impairment 2 ARHI2 associated with rs11928865, rs779701, and rs779706 612976 Age-related hearing impairment 2 2 +607939 SUMF1 Sulfatase-modifying factor-1 ENSG00000144455 SUMF1, FGE Autosomal recessive 272200 Multiple sulfatase deficiency 3 +147265 ITPR1 Inositol 1,4,5-triphosphate receptor, type 1 ENSG00000150995 ITPR1, SCA15, SCA16, SCA29 206700 Gillespie syndrome 3 +147265 ITPR1 Inositol 1,4,5-triphosphate receptor, type 1 ENSG00000150995 ITPR1, SCA15, SCA16, SCA29 Autosomal dominant 606658 Spinocerebellar ataxia 15 3 +147265 ITPR1 Inositol 1,4,5-triphosphate receptor, type 1 ENSG00000150995 ITPR1, SCA15, SCA16, SCA29 Autosomal dominant 117360 Spinocerebellar ataxia 29, congenital nonprogressive 3 +607893 Ovarian cancer, susceptibility to, 1 OVCAS1 between D3S1597 and D3S3611 607893 Ovarian cancer, susceptibility to 2 +602011 ST11 Suppression of tumorigenicity 11, pancreas ST11, PETS1 ?Pancreatic endocrine tumors 1 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR Autosomal dominant 192600 Cardiomyopathy, familial hypertrophic 3 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR Autosomal dominant 123320 Creatine phosphokinase, elevated serum 3 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR 611818 Long QT syndrome 9 3 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR Autosomal recessive, Autosomal dominant 607801 Muscular dystrophy, limb-girdle, type IC 3 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR Autosomal dominant 614321 Myopathy, distal, Tateyama type 3 +601253 CAV3 Caveolin-3 ENSG00000182533 CAV3, LGMD1C, LQT9 within 7-10kb of OXTR Autosomal dominant 606072 Rippling muscle disease 3 +615743 SETD5 SET domain-containing protein 5 ENSG00000168137 SETD5, KIAA1757 Autosomal dominant 615761 Mental retardation, autosomal dominant 23 3 +611089 MTMR14 Myotubularin-related protein 14 ENSG00000163719 MTMR14, C3orf29, HJUMPY Autosomal dominant 160150 Centronuclear myopathy, autosomal, modifier of 3 +601982 OGG1 8-hydroxyguanine DNA glycosylase ENSG00000114026 OGG1 144700 Renal cell carcinoma, clear cell, somatic 3 +612120 CIDEC Cell death-inducing DFFA-like effector C ENSG00000187288 CIDEC, FSP27, CIDE3, FPLD5 1 patient identified with mutation Autosomal recessive 615238 ?Lipodystrophy, familial partial, type 5 3 +616012 JAGN1 Jagunal, Drosophila, homolog of, 1 ENSG00000171135 JAGN1, SCN6 Autosomal recessive 616022 Neutropenia, severe congenital, 6, autosomal recessive 3 +610925 IL17RC Interleukin 17 receptor C ENSG00000163702 IL17RC, IL17RL, CANDF9 Autosomal recessive 616445 Candidiasis, familial, 9 3 +607170 CRELD1 Cysteine-rich protein with EGF-like domains 1 ENSG00000163703 CRELD1, AVSD2 Autosomal dominant 606217 Atrioventricular septal defect, partial, with heterotaxy syndrome 3 +607170 CRELD1 Cysteine-rich protein with EGF-like domains 1 ENSG00000163703 CRELD1, AVSD2 Autosomal dominant 606217 Atrioventricular septal defect, susceptibility to, 2 3 +613984 FANCD2 Fanconi anemia, complementation group D2 ENSG00000144554 FANCD2, FANCD, FACD, FAD Autosomal recessive 227646 Fanconi anemia, complementation group D2 3 +608537 VHL VHL gene ENSG00000134086 VHL Autosomal recessive 263400 Erythrocytosis, familial, 2 3 +608537 VHL VHL gene ENSG00000134086 VHL Hemangioblastoma, cerebellar, somatic 3 +608537 VHL VHL gene ENSG00000134086 VHL Autosomal dominant 171300 Pheochromocytoma 3 +608537 VHL VHL gene ENSG00000134086 VHL 144700 Renal cell carcinoma, somatic 3 +608537 VHL VHL gene ENSG00000134086 VHL Autosomal dominant 193300 von Hippel-Lindau syndrome 3 +605353 GHRL Ghrelin ENSG00000157017 GHRL Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, susceptibility to 3 +108733 ATP2B2 ATPase, Ca++ transporting, plasma membrane, 2 ENSG00000157087 ATP2B2, PMCA2 Autosomal recessive 601386 Deafness, autosomal recessive 12, modifier of 3 +137165 SLC6A1 Solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ENSG00000157103 SLC6A1, GABATR, MAE Autosomal dominant 616421 Myoclonic-atonic epilepsy 3 +606661 Melanoma, uveal, susceptibility to, 2 UVM2 606661 Melanoma, uveal, susceptibility to, 2 2 +600755 SYN2 Synapsin II ENSG00000157152 SYN2 Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene 609338 Carotid intimal medial thickness 1 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene Autosomal dominant 125853 Diabetes, type 2 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene Autosomal dominant 604367 Insulin resistance, severe, digenic 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene Autosomal dominant 604367 Lipodystrophy, familial partial, type 3 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene Obesity, resistance to 3 +601487 PPARG Peroxisome proliferator activated receptor, gamma ENSG00000132170 PPARG, PPARG1, PPARG2, CIMT1, GLM1 PPARG1, PPARG2 from same gene Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, severe 3 +608753 TSEN2 tRNA splicing endonuclease 2, S. cerevisiae, homolog of ENSG00000154743 TSEN2, SEN2, PCH2B Autosomal recessive 612389 Pontocerebellar hypoplasia type 2B 3 +164760 RAF1 Oncogene RAF1 ENSG00000132155 RAF1, CRAF, NS5, CMD1NN Autosomal dominant 615916 Cardiomyopathy, dilated, 1NN 3 +164760 RAF1 Oncogene RAF1 ENSG00000132155 RAF1, CRAF, NS5, CMD1NN 611554 LEOPARD syndrome 2 3 +164760 RAF1 Oncogene RAF1 ENSG00000132155 RAF1, CRAF, NS5, CMD1NN 611553 Noonan syndrome 5 3 +613530 LGMD1H Muscular dystrophy, limb-girdle, type 1H LGMD1H between D3S1263 and D3S1277 Autosomal dominant 613530 Muscular dystrophy, limb-girdle, type 1H 2 +601570 WNT7A Wingless-type MMTV integration site family, member 7A ENSG00000154764 WNT7A Autosomal recessive 228930 Fuhrmann syndrome 3 +601570 WNT7A Wingless-type MMTV integration site family, member 7A ENSG00000154764 WNT7A Autosomal recessive 276820 Ulna and fibula, absence of, with severe limb deficiency 3 +612048 TMEM43 Transmembrane protein 43 ENSG00000170876 TMEM43, ARVD5, ARVC5, EDMD7 Autosomal dominant 604400 Arrhythmogenic right ventricular dysplasia 5 3 +612048 TMEM43 Transmembrane protein 43 ENSG00000170876 TMEM43, ARVD5, ARVC5, EDMD7 Autosomal dominant 614302 Emery-Dreifuss muscular dystrophy 7, AD 3 +613208 XPC XPC gene ENSG00000154767 XPC, XPCC Autosomal recessive 278720 Xeroderma pigmentosum, group C 3 +616735 CCDC174 Coiled-coil domain-containing protein 174 ENSG00000154781 CCDC174, HSPC212, IHPM Autosomal recessive 616816 Hypotonia, infantile, with psychomotor retardation 3 +603033 COLQ Collagenic tail of endplate acetylcholinesterase ENSG00000206561 COLQ, EAD, CMS5 Autosomal recessive 603034 Myasthenic syndrome, congenital, 5 3 +609019 BTD Biotinidase ENSG00000169814 BTD Autosomal recessive 253260 Biotinidase deficiency 3 +609954 Asperger syndrome, susceptibility to, 4 ASPG4 max lod at D3S2432 609954 Asperger syndrome susceptibility 4 2 +613519 Dermatitis, atopic, 9 ATOD9 max lod at D3S1768 613519 Dermatitis, atopic, susceptibility to, 9 2 +608088 Hereditary sensory neuropathy, type IB HSN1B max lod at D3S2338 Autosomal dominant 608088 Neuropathy, hereditary sensory, type IB 2 +612401 Osteoarthritis susceptibility 6 OS6 associated with rs11718863 and rs7639618 612401 Osteoarthritis susceptibility 6 2 +609649 TRICY1 Trichilemmal cyst 1 TRICY1 max lod at D3S1277 Autosomal dominant 609649 Trichilemmal cyst 1 2 +601486 DAZL Deleted in azoospermia-like ENSG00000092345 DAZL, DAZH, SPGYLA ?founding member of DAZ gene family Spermatogenic failure, susceptibility to 3 +609168 SGO1 Shugoshin-like 1 ENSG00000129810 SGOL1, SGO, SGO1, CAID Autosomal recessive 616201 Chronic atrial and intestinal dysrhythmia 3 +611634 Febrile seizures, familial, 9 FEB9 between D3S3727 and D3S3567 Autosomal dominant 611634 Febrile seizures, familial, 9 2 +604174 RPL15 Ribosomal protein L15 ENSG00000174748 RPL15, DBA12 mutation identified in 1 family Autosomal dominant 615550 ?Diamond-Blackfan anemia 12 3 +190160 THRB Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) ENSG00000151090 THRB, ERBA2, THR1, PRTH Autosomal dominant 188570 Thyroid hormone resistance 3 +190160 THRB Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) ENSG00000151090 THRB, ERBA2, THR1, PRTH Autosomal recessive 274300 Thyroid hormone resistance, autosomal recessive 3 +190160 THRB Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) ENSG00000151090 THRB, ERBA2, THR1, PRTH Autosomal dominant 145650 Thyroid hormone resistance, selective pituitary 3 +180220 RARB Retinoic acid receptor, beta polypeptide ENSG00000077092 RARB, HAP, MCOPS12 = HAP = HBV-activated protein Autosomal dominant 615524 Microphthalmia, syndromic 12 3 +610661 NGLY1 N-glycanase 1 ENSG00000151092 NGLY1, PNG1, CDDG, CDG1V Autosomal recessive 615273 Congenital disorder of deglycosylation 3 +190182 TGFBR2 Transforming growth factor, beta receptor II, 70-80kD ENSG00000163513 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 614331 Colorectal cancer, hereditary nonpolyposis, type 6 3 +190182 TGFBR2 Transforming growth factor, beta receptor II, 70-80kD ENSG00000163513 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 133239 Esophageal cancer, somatic 3 +190182 TGFBR2 Transforming growth factor, beta receptor II, 70-80kD ENSG00000163513 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 Autosomal dominant 610168 Loeys-Dietz syndrome 2 3 +182280 Small-cell cancer of lung SCLC1 centromeric to ERBA2 Autosomal dominant 182280 Small-cell cancer of lung 2 +608605 STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) ENSG00000163527 STT3B, SIMP, CDG1X mutation identified in 1 family Autosomal recessive 615597 ?Congenital disorder of glycosylation, type Ix 3 +614836 Human herpesvirus 8, susceptibility to HHV8S 614836 Human herpesvirus 8, susceptibility to 2 +611778 GPD1L Glycerol-3-phosphate dehydrogenase 1-like ENSG00000152642 GPD1L, KIAA0089 611777 Brugada syndrome 2 3 +611458 GLB1 Galactosidase, beta-1 ENSG00000170266 GLB1, MPS4B 3p14.2-p11 excluded Autosomal recessive 230500 GM1-gangliosidosis, type I 3 +611458 GLB1 Galactosidase, beta-1 ENSG00000170266 GLB1, MPS4B 3p14.2-p11 excluded Autosomal recessive 230600 GM1-gangliosidosis, type II 3 +611458 GLB1 Galactosidase, beta-1 ENSG00000170266 GLB1, MPS4B 3p14.2-p11 excluded Autosomal recessive 230650 GM1-gangliosidosis, type III 3 +611458 GLB1 Galactosidase, beta-1 ENSG00000170266 GLB1, MPS4B 3p14.2-p11 excluded Autosomal recessive 253010 Mucopolysaccharidosis type IVB (Morquio) 3 +605497 CRTAP Cartilage-associated protein ENSG00000170275 CRTAP, CASP, OI7 Autosomal recessive 610682 Osteogenesis imperfecta, type VII 3 +615612 Developmental dysplasia of the hip 2 DDH2 between rs4481097 and rs4626072 Autosomal dominant 615612 Developmental dysplasia of the hip 2 2 +120436 MLH1 mutL, E. coli, homolog of, 1 ENSG00000076242 MLH1, COCA2, HNPCC2 609310 Colorectal cancer, hereditary nonpolyposis, type 2 3 +120436 MLH1 mutL, E. coli, homolog of, 1 ENSG00000076242 MLH1, COCA2, HNPCC2 Autosomal recessive 276300 Mismatch repair cancer syndrome 3 +120436 MLH1 mutL, E. coli, homolog of, 1 ENSG00000076242 MLH1, COCA2, HNPCC2 Autosomal dominant 158320 Muir-Torre syndrome 3 +602142 PLCD1 Phospholipase C, delta-1 ENSG00000187091 PLCD1, NDNC3 Autosomal recessive, Autosomal dominant 151600 Nail disorder, nonsyndromic congenital, 3, (leukonychia) 3 +604050 DLEC1 Deleted in lung and esophageal cancer 1 ENSG00000008226 DLEC1, DLC1 Autosomal dominant 133239 Esophageal cancer 1 +604050 DLEC1 Deleted in lung and esophageal cancer 1 ENSG00000008226 DLEC1, DLC1 Autosomal recessive 211980 Lung cancer 1 +602170 MYD88 Myeloid differentiation primary response gene 88 ENSG00000172936 MYD88, MYD88D 153600 Macroglobulinemia, Waldenstrom, somatic 3 +602170 MYD88 Myeloid differentiation primary response gene 88 ENSG00000172936 MYD88, MYD88D 612260 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 3 +602730 ACVR2B Activin A receptor, type IIB ENSG00000114739 ACVR2B, ACTRIIB, HTX4 613751 Heterotaxy, visceral, 4, autosomal 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 614022 Atrial fibrillation, familial, 10 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 601144 Brugada syndrome 1 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 601154 Cardiomyopathy, dilated, 1E 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 113900 Heart block, nonprogressive 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 113900 Heart block, progressive, type IA 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal dominant 603830 Long QT syndrome-3 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal recessive 608567 Sick sinus syndrome 1 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Autosomal recessive 272120 Sudden infant death syndrome, susceptibility to 3 +600163 SCN5A Sodium channel, voltage-gated, type V, alpha polypeptide ENSG00000183873 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 603829 Ventricular fibrillation, familial, 1 3 +604427 SCN10A Sodium channel, voltage-gated, type X, alpha subunit ENSG00000185313 SCN10A, FEPS2 Autosomal dominant 615551 Episodic pain syndrome, familial, 2 3 +604385 SCN11A Sodium channel, voltage-gated, type XI, alpha subunit ENSG00000168356 SCN11A, HSAN7, FEPS3 Autosomal dominant 615552 Episodic pain syndrome, familial, 3 3 +604385 SCN11A Sodium channel, voltage-gated, type XI, alpha subunit ENSG00000168356 SCN11A, HSAN7, FEPS3 Autosomal dominant 615548 Neuropathy, hereditary sensory and autonomic, type VII 3 +601470 CX3CR1 Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) ENSG00000168329 CX3CR1, GPR13, V28 607339 Coronary artery disease, resistance to 3 +601470 CX3CR1 Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) ENSG00000168329 CX3CR1, GPR13, V28 613784 Macular degeneration, age-related, 12 3 +601470 CX3CR1 Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) ENSG00000168329 CX3CR1, GPR13, V28 609423 Rapid progression to AIDS from HIV1 infection 3 +610819 SLC25A38 Solute carrier family 25, member 38 ENSG00000144659 SLC25A38, SIDBA2 Autosomal recessive 205950 Anemia, sideroblastic, 2, pyridoxine-refractory 3 +150370 RPSA Ribosomal protein SA ENSG00000168028 RPSA, LAMR1, LAMBR, ICAS Autosomal dominant 271400 Asplenia, isolated congenital 3 +116806 CTNNB1 Catenin (cadherin-associated protein), beta 1, 88kD ENSG00000168036 CTNNB1, MRD19 114500 Colorectal cancer, somatic 3 +116806 CTNNB1 Catenin (cadherin-associated protein), beta 1, 88kD ENSG00000168036 CTNNB1, MRD19 114550 Hepatocellular carcinoma, somatic 3 +116806 CTNNB1 Catenin (cadherin-associated protein), beta 1, 88kD ENSG00000168036 CTNNB1, MRD19 Autosomal dominant 615075 Mental retardation, autosomal dominant 19 3 +116806 CTNNB1 Catenin (cadherin-associated protein), beta 1, 88kD ENSG00000168036 CTNNB1, MRD19 167000 Ovarian cancer, somatic 3 +116806 CTNNB1 Catenin (cadherin-associated protein), beta 1, 88kD ENSG00000168036 CTNNB1, MRD19 132600 Pilomatricoma, somatic 3 +615340 KLHL40 Kelch-like 40 ENSG00000157119 KLHL40, SYRP, KBTBD5, NEM8 615348 Nemaline myopathy 8, autosomal recessive 3 +614828 POMGNT2 Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 2 ENSG00000144647 POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8 Autosomal recessive 614830 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 3 +613726 ANO10 Anoctamin 10 ENSG00000160746 ANO10, TMEM16K, SCAR10 Autosomal recessive 613728 Spinocerebellar ataxia, autosomal recessive 10 3 +612007 Celiac disease, susceptibility to, 9 CELIAC9 associated with rs6441961 612007 Celiac disease, susceptibility to, 9 2 +606874 Hirschsprung disease, susceptibility to, 6 HSCR6 606874 Hirschsprung disease, susceptibility to, 6 2 +612241 Inflammatory bowel disease 12 IBD12 612241 Inflammatory bowel disease 12 2 +612574 Mean platelet volume quantitative trait locus 2 MPVQTL2 associated with rs12485738 612574 Mean platelet volume QTL2 2 +613806 Cholangitis, primary sclerosing PSC 613806 Cholangitis, primary sclerosing 2 +604780 ABHD5 Abhydrolase domain containing 5 ENSG00000011198 ABHD5, CGI58, IECN2, NCIE2 Autosomal recessive 275630 Chanarin-Dorfman syndrome 3 +609815 Zygodactyly 1 ZD1 max lod at D3S2409 609815 Zygodactyly 1 2 +604544 LARS2 Leucyl-tRNA synthetase, mitochondrial ENSG00000011376 LARS2, PRLTS4, HLASA mutation identified in 1 HLASA patient Autosomal recessive 617021 ?Hydrops, lactic acidosis, and sideroblastic anemia 3 +604544 LARS2 Leucyl-tRNA synthetase, mitochondrial ENSG00000011376 LARS2, PRLTS4, HLASA mutation identified in 1 HLASA patient Autosomal recessive 615300 Perrault syndrome 4 3 +605616 SLC6A20 X transporter protein 3 ENSG00000163817 SLC6A20, XT3 Autosomal dominant 138500 Hyperglycinuria 3 +605616 SLC6A20 X transporter protein 3 ENSG00000163817 SLC6A20, XT3 Autosomal recessive 242600 Iminoglycinuria, digenic 3 +606568 LZTFL1 Leucine zipper transcription factor-like 1 ENSG00000163818 LZTFL1, BBS17 Autosomal recessive 615994 Bardet-Biedl syndrome 17 3 +607182 FYCO1 FYVE and coiled-coil domain containing 1 ENSG00000163820 FYCO1, CATC2, CTRCT18 Autosomal recessive 610019 Cataract 18, autosomal recessive 3 +601267 CCR2 Chemokine (C-C) receptor 2 ENSG00000121807 CCR2, CMKBR2 HIV infection, susceptibility/resistance to 3 +601373 CCR5 Chemokine (C-C) receptor 5 ENSG00000160791 CCR5, CMKBR5, CCCKR5, IDDM22 612522 Diabetes mellitus, insulin-dependent, 22 3 +601373 CCR5 Chemokine (C-C) receptor 5 ENSG00000160791 CCR5, CMKBR5, CCCKR5, IDDM22 HIV infection, susceptibility/resistance to 3 +601373 CCR5 Chemokine (C-C) receptor 5 ENSG00000160791 CCR5, CMKBR5, CCCKR5, IDDM22 609532 Hepatitis C virus, resistance to 3 +601373 CCR5 Chemokine (C-C) receptor 5 ENSG00000160791 CCR5, CMKBR5, CCCKR5, IDDM22 610379 West nile virus, susceptibility to 3 +187395 TDGF1 Teratocarcinoma-derived growth factor-1 ENSG00000241186 TDGF1 Forebrain defects 3 +607237 TMIE Transmembrane inner ear-expressed gene ENSG00000181585 TMIE, DFNB6 Autosomal recessive 600971 Deafness, autosomal recessive 6 3 +160790 MYL3 Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow ENSG00000160808 MYL3, CMH8 608751 Cardiomyopathy, hypertrophic, 8 3 +168468 PTH1R Parathyroid hormone receptor-1 ENSG00000160801 PTHR1, PTHR, PFE Autosomal recessive 215045 Chondrodysplasia, Blomstrand type 3 +168468 PTH1R Parathyroid hormone receptor-1 ENSG00000160801 PTHR1, PTHR, PFE Autosomal recessive 600002 Eiken syndrome 3 +168468 PTH1R Parathyroid hormone receptor-1 ENSG00000160801 PTHR1, PTHR, PFE Autosomal dominant 125350 Failure of tooth eruption, primary 3 +168468 PTH1R Parathyroid hormone receptor-1 ENSG00000160801 PTHR1, PTHR, PFE Autosomal dominant 156400 Metaphyseal chondrodysplasia, Murk Jansen type 3 +614169 NBEAL2 Neurobeachin-like 2 ENSG00000160796 NBEAL2, KIAA0540, GPS, BDPLT4 Autosomal recessive 139090 Gray platelet syndrome 3 +612778 SETD2 SET domain-containing protein 2 ENSG00000181555 SETD2, SET2, HYPB, HBP231, KIAA1732, LLS Autosomal dominant 616831 Luscan-Lumish syndrome 3 +606609 TREX1 3' repair exonuclease 1 ENSG00000213689 TREX1, AGS1, CRV, HERNS Autosomal recessive, Autosomal dominant 225750 Aicardi-Goutieres syndrome 1, dominant and recessive 3 +606609 TREX1 3' repair exonuclease 1 ENSG00000213689 TREX1, AGS1, CRV, HERNS Autosomal dominant 610448 Chilblain lupus 3 +606609 TREX1 3' repair exonuclease 1 ENSG00000213689 TREX1, AGS1, CRV, HERNS Autosomal dominant 152700 Systemic lupus erythematosus, susceptibility to 3 +606609 TREX1 3' repair exonuclease 1 ENSG00000213689 TREX1, AGS1, CRV, HERNS Autosomal dominant 192315 Vasculopathy, retinal, with cerebral leukodystrophy 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal recessive 226600 EBD inversa 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal dominant 132000 EBD, Bart type 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 EBD, localisata variant 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal dominant 131750 Epidermolysis bullosa dystrophica, AD 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal recessive 226600 Epidermolysis bullosa dystrophica, AR 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal recessive, Autosomal dominant 604129 Epidermolysis bullosa pruriginosa 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal recessive, Autosomal dominant 131850 Epidermolysis bullosa, pretibial 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal dominant 607523 Toenail dystrophy, isolated 3 +120120 COL7A1 Collagen VII, alpha-1 polypeptide ENSG00000114270 COL7A1, NDNC8 Autosomal recessive, Autosomal dominant 131705 Transient bullous of the newborn 3 +613698 SLC25A20 Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarnitine translocase) ENSG00000178537 SLC25A20, CACT, CAC pseudogene on 6p12 Autosomal recessive 212138 Carnitine-acylcarnitine translocase deficiency 3 +612911 NDUFAF3 NADH dehydrogenase 1 alpha subcomplex, assembly factor 3 ENSG00000178057 NDUFAF3 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +146691 IMPDH2 Inosine-5'-monophosphate dehydrogenase, type II ENSG00000178035 IMPDH2, IMPD2 IMPDH2 enzyme activity, variation in 3 +603727 QARS Glutaminyl-tRNA synthetase ENSG00000172053 QARS, GLNRS, MSCCA Autosomal recessive 615760 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 3 +150325 LAMB2 Laminin, beta-2 (laminin S) ENSG00000172037 LAMB2, LAMS, NPHS5 614199 Nephrotic syndrome, type 5, with or without ocular abnormalities 3 +150325 LAMB2 Laminin, beta-2 (laminin S) ENSG00000172037 LAMB2, LAMS, NPHS5 Autosomal recessive 609049 Pierson syndrome 3 +613169 KLHDC8B Kelch domain-containing protein 8B ENSG00000185909 KLHDC8B, CHL Autosomal recessive 236000 Hodgkin lymphoma, susceptibility to 3 +138320 GPX1 Glutathione peroxidase-1 ENSG00000233276 GPX1, GPXD ?pseudogene on 3p11-p12 Autosomal recessive 614164 Hemolytic anemia due to glutathione peroxidase deficiency 1 +238310 AMT Aminomethyltransferase (glycine cleavage system protein T) ENSG00000145020 AMT, NKH, GCE Autosomal recessive 605899 Glycine encephalopathy 3 +128239 DAG1 Dystrophin-associated glycoprotein-1 ENSG00000173402 DAG1, DAG, MDDGC9, MDDGA9 Autosomal recessive 616538 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 3 +128239 DAG1 Dystrophin-associated glycoprotein-1 ENSG00000173402 DAG1, DAG, MDDGC9, MDDGA9 Autosomal recessive 613818 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 3 +615320 GMPPB GDP-mannose pyrophosphorylase B ENSG00000173540 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14 Autosomal recessive 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 3 +615320 GMPPB GDP-mannose pyrophosphorylase B ENSG00000173540 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14 Autosomal recessive 615351 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 3 +615320 GMPPB GDP-mannose pyrophosphorylase B ENSG00000173540 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14 Autosomal recessive 615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 3 +605958 TRAIP TRAF-interacting protein ENSG00000183763 TRAIP, TRIP, RNF206, SCKL9 Autosomal recessive 616777 Seckel syndrome 9 3 +600168 MST1R Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ENSG00000164078 MST1R, RON, NPCA3 Autosomal dominant 617075 Nasopharyngeal carcinoma, susceptibility to, 3 3 +139330 GNAT1 Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1 ENSG00000114349 GNAT1, CSNBAD3, CSNB1G mutation identified in 1 CSNG1G family Autosomal dominant 610444 Night blindness, congenital stationary, autosomal dominant 3 3 +139330 GNAT1 Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1 ENSG00000114349 GNAT1, CSNBAD3, CSNB1G mutation identified in 1 CSNG1G family Autosomal recessive 616389 ?Night blindness, congenital stationary, type 1G 3 +139360 GNAI2 Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2 ENSG00000114353 GNAI2, GNAI2B, GIP on 12p13-p12, GNAI2L Pituitary ACTH-secreting adenoma 3 +139360 GNAI2 Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2 ENSG00000114353 GNAI2, GNAI2B, GIP on 12p13-p12, GNAI2L Autosomal dominant 192605 Ventricular tachycardia, idiopathic 3 +607071 HYAL1 Hyaluronoglucosaminidase 1 ENSG00000114378 HYAL1, MPS9 mutation identified in 1 MPS9 patient Autosomal recessive 601492 ?Mucopolysaccharidosis type IX 3 +605082 RASSF1 RAS association domain family protein 1 ENSG00000068028 RASSF1 epigenetically inactivated Autosomal recessive 211980 Lung cancer 2 +607070 ZMYND10 Zinc finger MYND domain-containing protein 10 ENSG00000004838 ZMYND10, BLU Autosomal recessive 615444 Ciliary dyskinesia, primary, 22 3 +607072 NPRL2 Npr2, S. cerevisiae, homolog of ENSG00000114388 NPR2L, NPRL2, FFEVF2 Autosomal dominant 617116 Epilepsy, familial focal, with variable foci 2 3 +602441 CISH Cytokine inducible SH2-containing protein ENSG00000114737 CISH, BACTS2 614383 Bacteremia, susceptibility to 3 +602441 CISH Cytokine inducible SH2-containing protein ENSG00000114737 CISH, BACTS2 611162 Malaria, susceptibility to 3 +602441 CISH Cytokine inducible SH2-containing protein ENSG00000114737 CISH, BACTS2 607948 Tuberculosis, susceptibility to 3 +602130 MAPKAPK3 Mitogen-activated protein kinase-activated protein kinase-3 ENSG00000114738 MAPKAP3, 3PK, MDPT3 mutation identified in 1 MDPT3 family Autosomal dominant 617111 ?Macular dystrophy, patterned, 3 3 +104620 ACY1 Aminoacylase-1 ENSG00000243989 ACY1, ACY1D Autosomal recessive 609924 Aminoacylase 1 deficiency 3 +614783 POC1A POC1 centriolar protein, Chlamydomonas, homolog of, A ENSG00000164087 POC1A, PIX2, SOFT Autosomal recessive 614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 3 +610516 GLYCTK Glycerate kinase ENSG00000168237 GLYCTK, GLYCTK1 Autosomal recessive 220120 D-glyceric aciduria 3 +603089 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) ENSG00000163930 BAP1, TPDS Autosomal dominant 614327 Tumor predisposition syndrome 3 +191040 TNNC1 Troponin-C1, slow ENSG00000114854 TNNC1, CMD1Z, CMH13 611879 Cardiomyopathy, dilated, 1Z 3 +191040 TNNC1 Troponin-C1, slow ENSG00000114854 TNNC1, CMD1Z, CMH13 613243 Cardiomyopathy, hypertrophic, 13 3 +600564 ITIH4 Inter-alpha (globulin) inhibitor, H4 polypeptide ENSG00000055955 ITIH4, PK120, ITIHL1 Autosomal dominant 143890 Hypercholesterolemia, susceptibility to 3 +611908 RFT1 RFT1, S. cerevisiae, homolog of ENSG00000163933 RFT1, CDG1N Autosomal recessive 612015 Congenital disorder of glycosylation, type In 3 +176977 PRKCD Protein kinase C, delta ENSG00000163932 PRKCD, CVID9, ALPS3 mutation identified in 1 family Autosomal recessive 615559 Autoimmune lymphoproliferative syndrome, type III 3 +606781 TKT Transketolase ENSG00000163931 TKT, SDDHD Autosomal recessive 617044 Short stature, developmental delay, and congenital heart defects 3 +114206 CACNA1D Calcium channel, voltage-dependent, L type, alpha 1D subunit ENSG00000157388 CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA Autosomal dominant 615474 Primary aldosteronism, seizures, and neurologic abnormalities 3 +114206 CACNA1D Calcium channel, voltage-dependent, L type, alpha 1D subunit ENSG00000157388 CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA Autosomal recessive 614896 Sinoatrial node dysfunction and deafness 3 +608586 Keratoconus 3 KTCN3 608586 Keratoconus 3 2 +164975 WNT5A Wingless-type MMTV integration site family, member 5A ENSG00000114251 WNT5A Autosomal dominant 180700 Robinow syndrome, autosomal dominant 1 3 +606807 IL17RD Interleukin 17, receptor D (Sef, zebrafish, homolog of) ENSG00000144730 IL17RD, SEF, HH18 Autosomal dominant 615267 Hypogonadotropic hypogonadism 18 with or without anosmia 3 +601802 HESX1 Homeo box gene expressed in ES cells ENSG00000163666 HESX1, RPX, CPHD5 Autosomal recessive, Autosomal dominant 182230 Growth hormone deficiency with pituitary anomalies 3 +601802 HESX1 Homeo box gene expressed in ES cells ENSG00000163666 HESX1, RPX, CPHD5 Autosomal recessive, Autosomal dominant 182230 Pituitary hormone deficiency, combined, 5 3 +601802 HESX1 Homeo box gene expressed in ES cells ENSG00000163666 HESX1, RPX, CPHD5 Autosomal recessive, Autosomal dominant 182230 Septooptic dysplasia 3 +604299 APPL1 Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1 ENSG00000157500 APPL1, APPL, MODY14 Autosomal dominant 616511 Maturity-onset diabetes of the young, type 14 3 +603381 FLNB Filamin B ENSG00000136068 FLNB, SCT, AOI, LRS1 Autosomal dominant 108720 Atelosteogenesis, type I 3 +603381 FLNB Filamin B ENSG00000136068 FLNB, SCT, AOI, LRS1 Autosomal dominant 108721 Atelosteogenesis, type III 3 +603381 FLNB Filamin B ENSG00000136068 FLNB, SCT, AOI, LRS1 Autosomal dominant 112310 Boomerang dysplasia 3 +603381 FLNB Filamin B ENSG00000136068 FLNB, SCT, AOI, LRS1 Autosomal dominant 150250 Larsen syndrome 3 +603381 FLNB Filamin B ENSG00000136068 FLNB, SCT, AOI, LRS1 Autosomal recessive 272460 Spondylocarpotarsal synostosis syndrome 3 +602244 DNASE1L3 Deoxyribonuclease I-like 3 ENSG00000163687 DNASE1L3, SLEB16 Autosomal recessive 614420 Systemic lupus erythematosus 16 3 +179060 PDHB Pyruvate dehydrogenase, E1 beta polypeptide ENSG00000168291 PDHB, PDHBD 614111 Pyruvate dehydrogenase E1-beta deficiency 3 +610948 Hypertension, essential, susceptibility to, 7 HYT7 610948 Hypertension, essential, susceptibility to, 7 2 +607640 ATXN7 Ataxin 7 ENSG00000163635 ATXN7, SCA7, OPCA3 Autosomal dominant 164500 Spinocerebellar ataxia 7 3 +611037 SLC25A26 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 ENSG00000282739 SLC25A26, SAMC, COXPD28 Autosomal recessive 616794 Combined oxidative phosphorylation deficiency 28 3 +614789 EOGT EGF domain-specific O-linked N-acetylglucosamine transferase ENSG00000163378 EOGT, EOGT1, C3orf64, AOS4 Autosomal recessive 615297 Adams-Oliver syndrome 4 3 +616112 LMOD3 Leiomodin 3 ENSG00000163380 LMOD3, NEM10 Autosomal recessive 616165 Nemaline myopathy 10 3 +156845 MITF Microphthalmia-associated transcription factor ENSG00000187098 MITF, WS2A, CMM8 614456 Melanoma, cutaneous malignant, susceptibility to, 8 3 +156845 MITF Microphthalmia-associated transcription factor ENSG00000187098 MITF, WS2A, CMM8 Autosomal dominant 103500 Tietz albinism-deafness syndrome 3 +156845 MITF Microphthalmia-associated transcription factor ENSG00000187098 MITF, WS2A, CMM8 Autosomal dominant 193510 Waardenburg syndrome, type 2A 3 +156845 MITF Microphthalmia-associated transcription factor ENSG00000187098 MITF, WS2A, CMM8 Autosomal dominant 103470 Waardenburg syndrome/ocular albinism, digenic 3 +605515 FOXP1 Forkhead box P1 ENSG00000114861 FOXP1, QRF1 Autosomal dominant 613670 Mental retardation with language impairment and with or without autistic features 3 +607002 PROK2 Prokineticin 2 ENSG00000163421 PROK2, PK2, BV8, HH4 Autosomal dominant 610628 Hypogonadotropic hypogonadism 4 with or without anosmia 3 +606896 DYX5 Dyslexia, susceptibility to, 5 DYX5 ?same locus as SSD 606896 Dyslexia, susceptibility to, 5 2 +109720 Biliary cirrhosis, primary, 1 PBC1 associated with rs6441286 Autosomal dominant 109720 Biliary cirrhosis, primary, 1 2 +608445 Speech-sound disorder SSD ?same locus as DYX5 608445 Speech-sound disorder 2 +602431 ROBO2 Roundabout, Drosophila, homolog of, 2 ENSG00000185008 ROBO2, SAX3, KIAA1568 610878 Vesicoureteral reflux 2 3 +607839 GBE1 Glycogen branching enzyme ENSG00000114480 GBE1, GSD4, APBD Autosomal recessive 232500 Glycogen storage disease IV 3 +607839 GBE1 Glycogen branching enzyme ENSG00000114480 GBE1, GSD4, APBD Autosomal recessive 263570 Polyglucosan body disease, adult form 3 +609512 CHMP2B CHMP family, member 2B ENSG00000083937 CHMP2B, DMT1, VPS2B, ALS17 Autosomal dominant 614696 Amyotrophic lateral sclerosis 17 3 +609512 CHMP2B CHMP family, member 2B ENSG00000083937 CHMP2B, DMT1, VPS2B, ALS17 Autosomal dominant 600795 Dementia, familial, nonspecific 3 +173110 POU1F1 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) ENSG00000064835 POU1F1, PIT1, CPHD1 Autosomal recessive, Autosomal dominant 613038 Pituitary hormone deficiency, combined, 1 3 +176880 PROS1 Protein S, alpha ENSG00000184500 PROS1, THPH5, THPH6 pseudogene PROSP contiguous on chr.3 Autosomal dominant 612336 Thrombophilia due to protein S deficiency, autosomal dominant 3 +176880 PROS1 Protein S, alpha ENSG00000184500 PROS1, THPH5, THPH6 pseudogene PROSP contiguous on chr.3 Autosomal recessive 614514 Thrombophilia due to protein S deficiency, autosomal recessive 3 +608922 ARL13B ADP-ribosylation factor-like 13B ENSG00000169379 ARL13B, ARL2L1, JBTS8 Autosomal recessive 612291 Joubert syndrome 8 3 +114200 Camptodactyly 1 CAMPD1 between D3S2465 and D3S3044 Autosomal dominant 114200 Camptodactyly 1 2 +608845 ARL6 ADP-ribosylation factor-like 6 ENSG00000113966 ARL6, BBS3, RP55 mutation identified in 1 RPS55 family Autosomal recessive, Digenic recessive 209900 Bardet-Biedl syndrome 1, modifier of 3 +608845 ARL6 ADP-ribosylation factor-like 6 ENSG00000113966 ARL6, BBS3, RP55 mutation identified in 1 RPS55 family Autosomal recessive 600151 Bardet-Biedl syndrome 3 3 +608845 ARL6 ADP-ribosylation factor-like 6 ENSG00000113966 ARL6, BBS3, RP55 mutation identified in 1 RPS55 family 613575 ?Retinitis pigmentosa 55 3 +612732 CPOX Coproporphyrinogen oxidase ENSG00000080819 CPOX Autosomal dominant 121300 Coproporphyria 3 +612732 CPOX Coproporphyrinogen oxidase ENSG00000080819 CPOX Autosomal dominant 121300 Harderoporphyria 3 +602498 TFG TRK-fused gene ENSG00000114354 TFG, HMSNP, SPG57 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family Autosomal dominant 604484 Hereditary motor and sensory neuropathy, Okinawa type 3 +602498 TFG TRK-fused gene ENSG00000114354 TFG, HMSNP, SPG57 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family Autosomal recessive 615658 ?Spastic paraplegia 57, autosomal recessive 3 +607056 IMPG2 Interphotoreceptor matrix proteoglycan 2 ENSG00000081148 IMPG2, IPM200, RP56, VMD5 Autosomal dominant 616152 Macular dystrophy, vitelliform, 5 3 +607056 IMPG2 Interphotoreceptor matrix proteoglycan 2 ENSG00000081148 IMPG2, IPM200, RP56, VMD5 Autosomal recessive 613581 Retinitis pigmentosa 56 3 +615423 TRMT10C tRNA methyltransferase 10, S. cerevisiae, homolog of, C ENSG00000174173 TRMT10C, RG9MTD1, MRPP1, COXPD30 Autosomal recessive 616974 Combined oxidative phosphorylation deficiency 30 3 +600467 MHS4 Malignant hyperthermia susceptibility 4 MHS4 Autosomal dominant 600467 Malignant hyperthermia susceptibility 4 2 +606037 CD96 CD96 antigen ENSG00000153283 CD96, TACTILE Autosomal recessive 211750 C syndrome 3 +614655 Stuttering, familial persistent, 3 STUT3 max lod at D3S1310 614655 Stuttering, familial persistent, 3 2 +615433 Chromosome 3q13.31 deletion syndrome DEL3q13.31, C13DELq13.31 Autosomal dominant 615433 Chromosome 3q13.31 deletion syndrome 4 +126451 DRD3 Dopamine receptor D3 ENSG00000151577 DRD3, ETM1, FET1 Autosomal dominant 190300 Essential tremor, susceptibility to 3 +126451 DRD3 Dopamine receptor D3 ENSG00000151577 DRD3, ETM1, FET1 Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +606025 ZBTB20 Zinc finger and BTB-domain containing 20 ENSG00000181722 ZBTB20, ZNF288, DPZF, PRIMS Autosomal dominant 259050 Primrose syndrome 3 +610911 ARHGAP31 Rho GTPase-activating protein 31 ENSG00000031081 ARHGAP31, CDGAP, KIAA1204, AOS1 Autosomal dominant 100300 Adams-Oliver syndrome 1 3 +615618 POGLUT1 Protein O-glucosyltransferase 1 ENSG00000163389 POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4 Autosomal dominant 615696 Dowling-Degos disease 4 3 +607474 HGD Homogentisate 1,2-dioxygenase (homogentisate oxidase) ENSG00000113924 HGD, AKU Autosomal recessive 203500 Alkaptonuria 3 +609237 IQCB1 IQ motif-containing protein B1 ENSG00000173226 IQCB1, NPHP5, KIAA0036 Autosomal recessive 609254 Senior-Loken syndrome 5 3 +609739 ILDR1 Immunoglobulin-like domain-containing receptor 1 ENSG00000145103 ILDR1, DFNB42 Autosomal recessive 609646 Deafness, autosomal recessive 42 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Calcium, serum level of 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO 612899 Epilepsy idiopathic generalized, susceptibility to, 8 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Hypercalciuric hypercalcemia 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Autosomal recessive 239200 Hyperparathyroidism, neonatal 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Autosomal dominant 601198 Hypocalcemia, autosomal dominant 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Autosomal dominant 601198 Hypocalcemia, autosomal dominant, with Bartter syndrome 3 +601199 CASR Calcium-sensing receptor ENSG00000036828 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 15cM from RHO Autosomal dominant 145980 Hypocalciuric hypercalcemia, type I 3 +603165 Dermatitis, atopic, 1 ATOD1 max lod at D3S3606 Autosomal dominant 603165 Dermatitis, atopic, susceptibility to, 1 2 +613460 Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma glucose, 2-hour, QTL 1 FGQTL6, BWQTL3, PGQTL1 associated with rs11708067 and rs11708067 613460 Birth weight QTL 3 2 +613460 Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma glucose, 2-hour, QTL 1 FGQTL6, BWQTL3, PGQTL1 associated with rs11708067 and rs11708067 613460 Fasting plasma glucose level QTL 6 2 +613460 Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma glucose, 2-hour, QTL 1 FGQTL6, BWQTL3, PGQTL1 associated with rs11708067 and rs11708067 613460 Plasma glucose, 2-hour, QTL 1 2 +601682 GLC1C Glaucoma 1, open angle, C GLC1C Autosomal dominant 601682 Glaucoma 1C, primary open angle 2 +601471 MBS2 Facial paresis, hereditary congenital, 1 HCFP1, MBS2 Autosomal dominant 601471 Facial paresis, hereditary congenital, 1 2 +604316 PSORS5 Psoriasis susceptibility 5 PSORS5 604316 Psoriasis susceptibility 5 2 +184600 CSTA Cystatin A (stefin A) ENSG00000121552 CSTA, STFA, STF1, AREI, PSS4 Autosomal recessive 607936 Peeling skin syndrome 4 3 +602773 DIRC2 Disrupted in renal carcinoma 2 ENSG00000138463 DIRC2, RCC4 t(2;3)(q35;q21) in renal cell carcinoma 144700 Renal cell carcinoma 1 +600293 ADCY5 Adenylate cyclase-5 ENSG00000173175 ADCY5, FDFM Autosomal dominant 606703 Dyskinesia, familial, with facial myokymia 3 +600922 MYLK Myosin-light-polypeptide kinase ENSG00000065534 MYLK, MLCK, AAT7 pseudogene on 3p13 Autosomal dominant 613780 Aortic aneurysm, familial thoracic 7 3 +604605 KALRN Kalirin ENSG00000160145 KALRN, HAPIP, DUO, CHDS5 608901 Coronary heart disease, susceptibility to, 5 3 +613891 UMPS Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) ENSG00000114491 UMPS, OPRT Autosomal recessive 258900 Orotic aciduria 3 +613012 UROC1 Urocanase domain-containing protein 1 ENSG00000159650 UROC1, UROCD mutation identified in 1 UROCD patient Autosomal recessive 276880 ?Urocanase deficiency 3 +116945 MCM2 Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of (mitotin) ENSG00000073111 MCM2, CDCL1, DFNA70 mutation identified in 1 DFNA70 family Autosomal dominant 616968 ?Deafness, autosomal dominant 70 3 +609213 SEC61A1 Sec61 complex, alpha-1 subunit ENSG00000058262 SEC61A1, SEC61, HNFJ4 Autosomal dominant 617056 Hyperuricemic nephropathy, familial juvenile, 4 3 +137295 GATA2 GATA-binding protein-2 ENSG00000179348 GATA2, DCML, MONOMAC, IMD21 Autosomal dominant 614038 Emberger syndrome 3 +137295 GATA2 GATA-binding protein-2 ENSG00000179348 GATA2, DCML, MONOMAC, IMD21 Autosomal dominant 614172 Immunodeficiency 21 3 +137295 GATA2 GATA-binding protein-2 ENSG00000179348 GATA2, DCML, MONOMAC, IMD21 Autosomal dominant 601626 Leukemia, acute myeloid, susceptibility to 3 +137295 GATA2 GATA-binding protein-2 ENSG00000179348 GATA2, DCML, MONOMAC, IMD21 614286 Myelodysplastic syndrome, susceptibility to 3 +602298 RAB7A Ras-associated protein RAB7 ENSG00000075785 RAB7, CMT2B, PSN Autosomal dominant 600882 Charcot-Marie-Tooth disease, type 2B 3 +611103 ACAD9 Acyl-CoA dehydrogenase family, member 9 ENSG00000177646 ACAD9 Autosomal recessive 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency 3 +173515 GP9 Glycoprotein IX, platelet ENSG00000169704 GP9 Autosomal recessive 231200 Bernard-Soulier syndrome, type C 3 +116955 CNBP Zinc finger protein-9 (a cellular retroviral nucleic acid-binding protein) ENSG00000169714 ZNF9, CNBP1, DM2, PROMM Autosomal dominant 602668 Myotonic dystrophy 2 3 +606045 IFT122 Intraflagellar transport 122, homolog of ENSG00000163913 IFT122, WDR10, CED1 Autosomal recessive 218330 Cranioectodermal dysplasia 1 3 +611155 Alzheimer disease 15 AD15 max lod at D3S1579 611155 Alzheimer disease-15 2 +606012 DFNA18 Deafness, autosomal dominant 18 DFNA18 Autosomal dominant 606012 Deafness, autosomal dominant 18 2 +220200 DWS Dandy-Walker syndrome DWS, C3DELq22q24, DEL3q22q24 ZIC1 and ZIC4 good candidate genes Autosomal recessive 220200 Dandy-Walker syndrome 4 +608787 OTSC5 Otosclerosis 5 OTSC5 max lod at D3S1569 608787 Otosclerosis 5 2 +616361 Parkinson disease 21 PARK21 conflicting mapping on 20pter-p12 Autosomal dominant 616361 Parkinson disease 21 2 +606995 Senior-Loken syndrome 3 SLSN3 ?allelic with NPHP3 Autosomal recessive 606995 Senior-Loken syndrome 3 2 +180380 RHO Rhodopsin (opsin 2) ENSG00000163914 RHO, RP4, OPN2, CSNBAD1 610445 Night blindness, congenital stationary, autosomal dominant 1 3 +180380 RHO Rhodopsin (opsin 2) ENSG00000163914 RHO, RP4, OPN2, CSNBAD1 Autosomal recessive, Autosomal dominant 613731 Retinitis pigmentosa 4, autosomal dominant or recessive 3 +180380 RHO Rhodopsin (opsin 2) ENSG00000163914 RHO, RP4, OPN2, CSNBAD1 Autosomal recessive, Autosomal dominant 136880 Retinitis punctata albescens 3 +613879 TRH Thyrotropin-releasing hormone ENSG00000170893 TRH Autosomal recessive 275120 Thyrotropin-releasing hormone deficiency 1 +604384 ATP2C1 ATPase, Ca(2+)-sequestering ENSG00000017260 ATP2C1, BCPM, HHD Autosomal dominant 169600 Hailey-Hailey disease 3 +607118 MRPL3 Mitochondrial ribosomal protein L3 ENSG00000114686 MRPL3, MRL3, COXPD9 Autosomal recessive 614582 Combined oxidative phosphorylation deficiency 9 3 +608002 NPHP3 Nephrocystin 3 ENSG00000113971 NPHP3, NPH3, RHPD1, MKS7 Autosomal recessive 267010 Meckel syndrome 7 3 +608002 NPHP3 Nephrocystin 3 ENSG00000113971 NPHP3, NPH3, RHPD1, MKS7 Autosomal recessive 604387 Nephronophthisis 3 3 +608002 NPHP3 Nephrocystin 3 ENSG00000113971 NPHP3, NPH3, RHPD1, MKS7 Autosomal recessive 208540 Renal-hepatic-pancreatic dysplasia 1 3 +603212 BFSP2 Beaded filament structural protein 2 (cytoskeletal protein, 49 kD) ENSG00000170819 BFSP2, CP49, CP47, CTRCT12 Autosomal dominant 611597 Cataract 12, multiple types 3 +190000 TF Transferrin ENSG00000091513 TF, TFQTL1 Autosomal recessive 209300 Atransferrinemia 3 +601460 SLCO2A1 Solute carrier organic anion transporter family, member 2A1 ENSG00000174640 SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2 Autosomal recessive 614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 3 +614724 CEP63 Centrosomal protein, 63kD ENSG00000182923 CEP63, SCKL6 mutation identified in 1 family Autosomal recessive 614728 ?Seckel syndrome 6 3 +605739 KY Kyphoscoliosis peptidase ENSG00000174611 KY, MFM7 617114 Myopathy, myofibrillar, 7 3 +232050 PCCB Propionyl Coenzyme A carboxylase, beta polypeptide ENSG00000114054 PCCB pccB complementation group Autosomal recessive 606054 Propionicacidemia 3 +605597 FOXL2 Forkhead transcription factor FOXL2 ENSG00000183770 FOXL2, BPES, BPES1, PFRK, POF3 Autosomal dominant 110100 Blepharophimosis, epicanthus inversus, and ptosis, type 1 3 +605597 FOXL2 Forkhead transcription factor FOXL2 ENSG00000183770 FOXL2, BPES, BPES1, PFRK, POF3 Autosomal dominant 110100 Blepharophimosis, epicanthus inversus, and ptosis, type 2 3 +605597 FOXL2 Forkhead transcription factor FOXL2 ENSG00000183770 FOXL2, BPES, BPES1, PFRK, POF3 608996 Premature ovarian failure 3 3 +612221 Stature quantitative trait locus 10 STQTL10 associated with rs6440003 612221 Stature QTL 10 2 +605810 MRPS22 Mitochondrial ribosomal protein S22 ENSG00000175110 MRPS22, C3orf5, COXPD5 Autosomal recessive 611719 Combined oxidative phosphorylation deficiency 5 3 +601215 ATR Ataxia-telangiectasia and Rad3-related (FRAP-related protein-1) ENSG00000175054 ATR, FRP1, SCKL1, FCTCS mutation identified in 1 FCTCS family Autosomal dominant 614564 ?Cutaneous telangiectasia and cancer syndrome, familial 3 +601215 ATR Ataxia-telangiectasia and Rad3-related (FRAP-related protein-1) ENSG00000175054 ATR, FRP1, SCKL1, FCTCS mutation identified in 1 FCTCS family Autosomal recessive 210600 Seckel syndrome 1 3 +610761 High density lipoprotein cholesterol level QTL 5 HDLCQ5 max lod at D3S3053 610761 High density lipoprotein cholesterol level QTL 5 2 +606660 Melanoma, uveal, susceptibility to, 1 UVM1 606660 Melanoma, uveal, susceptibility to, 1 2 +608396 SLC9A9 Solute carrier family 9 (sodium/hydrogen exchanger), member A9 ENSG00000181804 SLC9A9, AUTS16 mutation identified in 1 family 613410 ?{Autism susceptibility 16 3 +601865 PLOD2 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 ENSG00000152952 PLOD2, LH2, TLH, BRKS2 Autosomal recessive 609220 Bruck syndrome 2 3 +600470 ZIC1 Zic family member-1 ENSG00000152977 ZIC1, CRS6 Autosomal dominant 616602 Craniosynostosis 6 3 +106165 AGTR1 Angiotensin receptor 1 ENSG00000144891 AGTR1, AGTR1A, AT2R1 Multifactorial 145500 Hypertension, essential 3 +106165 AGTR1 Angiotensin receptor 1 ENSG00000144891 AGTR1, AGTR1A, AT2R1 Autosomal recessive 267430 Renal tubular dysgenesis 3 +603942 GYG1 Glycogenin 1 ENSG00000163754 GYG1, GSD15 mutation identified in 1 GSD15 patient Autosomal recessive 613507 ?Glycogen storage disease XV 3 +603942 GYG1 Glycogenin 1 ENSG00000163754 GYG1, GSD15 mutation identified in 1 GSD15 patient Autosomal recessive 616199 Polyglucosan body myopathy 2 3 +606118 HPS3 HPS gene 3 ENSG00000163755 HPS3 614072 Hermansky-Pudlak syndrome 3 3 +117700 CP Ceruloplasmin ENSG00000047457 CP ~15cM from TF Autosomal recessive 604290 Cerebellar ataxia 3 +117700 CP Ceruloplasmin ENSG00000047457 CP ~15cM from TF Autosomal recessive 604290 Hemosiderosis, systemic, due to aceruloplasminemia 3 +117700 CP Ceruloplasmin ENSG00000047457 CP ~15cM from TF Autosomal recessive 604290 Hypoceruloplasminemia, hereditary 3 +608638 Asperger syndrome, susceptibility to, 1 ASPG1 max lod with D3S3037 Isolated cases, Multifactorial 608638 Asperger syndrome susceptibility 1 2 +607373 Autism, susceptibility to, 8 AUTS8 Isolated cases, Multifactorial 607373 Autism susceptibility 8 2 +612008 Celiac disease, susceptibility to, 10 CELIAC10 associated with rs17810546 612008 Celiac disease, susceptibility to, 10 2 +615697 Epilepsy, familial temporal lobe, 6 ETL6 between D3S1584 and D3S3520 615697 Epilepsy, familial temporal lobe, 6 2 +606397 CLRN1 Clarin 1 ENSG00000163646 CLRN1, USH3A, USH3, RP61 frequent in Finland; ?digenic interaction with MYO7A 614180 Retinitis pigmentosa 61 3 +606397 CLRN1 Clarin 1 ENSG00000163646 CLRN1, USH3A, USH3, RP61 frequent in Finland; ?digenic interaction with MYO7A Autosomal recessive 276902 Usher syndrome, type 3A 3 +600515 P2RY12 Purinergic receptor P2Y, G protein-coupled, 12 ENSG00000169313 P2RY12, P2Y12, BDPLT8 Autosomal recessive 609821 Bleeding disorder, platelet-type, 8 3 +120520 MME Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen) ENSG00000196549 MME, CD10, CALLA, NEP, CMT2T, SCA43 mutation identified in 1 SCA43 family Autosomal recessive 617017 Charcot-Marie-Tooth disease, axonal, type 2T 3 +120520 MME Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen) ENSG00000196549 MME, CD10, CALLA, NEP, CMT2T, SCA43 mutation identified in 1 SCA43 family Autosomal dominant 617018 ?Spinocerebellar ataxia 43 3 +613459 Birth weight quantitative trait locus 2 BWQTL2 associated with rs900400 613459 Birth weight QTL 2 2 +603690 SLC33A1 Solute carrier family 33 (acetyl-CoA transporter), member 1 ENSG00000169359 SLC33A1, ACATN, AT1, SPG42, CCHLND Autosomal recessive 614482 Congenital cataracts, hearing loss, and neurodegeneration 3 +603690 SLC33A1 Solute carrier family 33 (acetyl-CoA transporter), member 1 ENSG00000169359 SLC33A1, ACATN, AT1, SPG42, CCHLND Autosomal dominant 612539 Spastic paraplegia 42, autosomal dominant 3 +601402 MLF1 Myeloid leukemia factor-1 ENSG00000178053 MLF1 Autosomal dominant 601626 Leukemia, acute myeloid 1 +606639 GFM1 Mitochondrial elongation factor G1 ENSG00000168827 GFM1, EFG1, GFM, COXPD1 Autosomal recessive 609060 Combined oxidative phosphorylation deficiency 1 3 +611177 IFT80 Intraflagellar transport 80, Chlamydomonas, homolog of ENSG00000068885 IFT80, KIAA1374, WDR56, SRTD2, ATD2 Autosomal recessive 611263 Short-rib thoracic dysplasia 2 with or without polydactyly 3 +109200 Alopecia, androgenetic, 1 AFA1, MPB Autosomal dominant 109200 Alopecia, androgenetic, 1 2 +600049 Myelodysplasia syndrome-1 MDS1 cen--EVI1--MDS1--EAP--tel Myelodysplasia syndrome-1 3 +606082 Multinodular goiter-3 MNG3 606082 Goiter, multinodular, 3 2 +609257 MYP8 Myopia 8 MYP8 Multifactorial 609257 Myopia 8 2 +603094 B3GALNT1 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3 ENSG00000169255 B3GALT3, GLCT3, GLOB 111400 Blood group, P1PK system, P(k) phenotype 3 +603094 B3GALNT1 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3 ENSG00000169255 B3GALT3, GLCT3, GLOB 615021 Blood group, globoside system 3 +609845 SI Sucrase-isomaltase ENSG00000090402 SI Autosomal recessive 222900 Sucrase-isomaltase deficiency, congenital 3 +177400 BCHE Butyrylcholinesterase ENSG00000114200 BCHE, CHE1 distal to CP, TF Apnea, postanesthetic 3 +609118 PDCD10 Programmed cell death 10 ENSG00000114209 PDCD10, TFAR15, CCM3 603285 Cerebral cavernous malformations 3 3 +602445 SERPINI1 Protease inhibitor 12 ENSG00000163536 SERPINI1, PI12 Autosomal dominant 604218 Encephalopathy, familial, with neuroserpin inclusion bodies 3 +610422 Alopecia-mental retardation syndrome 2 APMR2 between D3S1564 and D3S2427 Autosomal recessive 610422 Alopecia-mental retardation syndrome 2 2 +612637 Febrile seizures, familial, 10 FEB10 between D3S3656 and D3S1232 612637 Febrile seizures, familial, 10 2 +165215 MECOM MDS1 and EVS1 complex locus ENSG00000085276 MECOM, EVI1, RUSAT2 Autosomal dominant 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 3 +602322 TERC Telomerase RNA component TERC, TRC3, TR, DKCA1, PFBMFT2 Autosomal dominant 614743 Aplastic anemia 3 +602322 TERC Telomerase RNA component TERC, TRC3, TR, DKCA1, PFBMFT2 Autosomal dominant 127550 Dyskeratosis congenita, autosomal dominant 1 3 +602322 TERC Telomerase RNA component TERC, TRC3, TR, DKCA1, PFBMFT2 Autosomal dominant 614743 Pulmonary fibrosis, idiopathic, susceptibility to 3 +615720 SLC7A14 Solute carrier family 7, member 14 ENSG00000013293 SLC7A14, KIAA1613, RP68 Autosomal recessive 615725 Retinitis pigmentosa 68 3 +138160 SLC2A2 Solute carrier family 2 (facilitated glucose transporter), member 2 ENSG00000163581 SLC2A2, GLUT2 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +138160 SLC2A2 Solute carrier family 2 (facilitated glucose transporter), member 2 ENSG00000163581 SLC2A2, GLUT2 Autosomal recessive 227810 Fanconi-Bickel syndrome 3 +610005 TNIK TRAF2-and NCK-interacting kinase ENSG00000154310 TNIK, KIAA0551, MRT54 Autosomal recessive 617028 Mental retardation, autosomal recessive 54 3 +203650 Alopecia-mental retardation syndrome 1 APMR1 max lod at D3S3583 Autosomal recessive 203650 Alopecia-mental retardation syndrome 1 2 +601898 GHSR Growth hormone secretagogue receptor ENSG00000121853 GHSR, GHDP Autosomal recessive, Autosomal dominant 615925 Growth hormone deficiency, isolated partial 3 +609856 SPATA16 Spermatogenesis-associated protein 16 ENSG00000144962 SPATA16, SPGF6 mutation identified in 1 SPGF6 family Autosomal recessive 102530 ?Spermatogenic failure 6 3 +615127 Epilepsy, familial adult myoclonic, 4 FAME4, FCMTE4 between D3S3730 and D3S1580 Autosomal dominant 615127 Epilepsy, myoclonic, familial adult, 4 2 +608628 TBL1XR1 Transducin-beta-like 1 receptor 1 ENSG00000177565 TBL1XR1, TBLR1, IRA1, C21, MRD41 Autosomal dominant 616944 Mental retardation, autosomal dominant 41 3 +608628 TBL1XR1 Transducin-beta-like 1 receptor 1 ENSG00000177565 TBL1XR1, TBLR1, IRA1, C21, MRD41 Autosomal dominant 602342 Pierpont syndrome 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 114480 Breast cancer, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 612918 CLOVE syndrome, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 114500 Colorectal cancer, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 615108 Cowden syndrome 5 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 613659 Gastric cancer, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 114550 Hepatocellular carcinoma, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 182000 Keratosis, seborrheic, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 602501 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 162900 Nevus, epidermal, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 211980 Nonsmall cell lung cancer, somatic 3 +171834 PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide ENSG00000121879 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5 167000 Ovarian cancer, somatic 3 +610863 GNB4 Guanine nucleotide-binding protein, beta-4 ENSG00000114450 GNB4, CMTD1F Autosomal dominant 615185 Charcot-Marie-Tooth disease, dominant intermediate F 3 +613798 CCDC39 Coiled-coil domain-containing protein 39 ENSG00000145075 CCDC39 613807 Ciliary dyskinesia, primary, 14 3 +608977 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 (translocase of inner mitochondrial membrane 14, yeast, homolog of) ENSG00000205981 DNAJC19, TIM14 Autosomal recessive 610198 3-methylglutaconic aciduria, type V 3 +184429 SOX2 SRY (sex determining region Y)-box 2 ENSG00000181449 SOX2, MCOPS3 Autosomal dominant 206900 Microphthalmia, syndromic 3 3 +184429 SOX2 SRY (sex determining region Y)-box 2 ENSG00000181449 SOX2, MCOPS3 Autosomal dominant 206900 Optic nerve hypoplasia and abnormalities of the central nervous system 3 +605552 Abdominal obesity-metabolic syndrome QTL1 AOMS1, SYNX epistatic gene on 17p12 Autosomal dominant 605552 Abdominal obesity-metabolic syndrome 1 2 +605229 SPG14 Spastic paraplegia 14, autosomal recessive SPG14 Autosomal recessive 605229 Spastic paraplegia 14, autosomal recessive 2 +609010 MCCC1 3-Methylcrotonyl-CoA carboxylase 1 ENSG00000078070 MCCC1, MCCA Autosomal recessive 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 3 +603945 EIF2B5 Eukaryotic translation initiation factor 2B, subunit 5 ENSG00000145191 EIF2B5, LVWM, CACH, CLE Autosomal recessive 603896 Leukoencephalopathy with vanishing white matter 3 +603945 EIF2B5 Eukaryotic translation initiation factor 2B, subunit 5 ENSG00000145191 EIF2B5, LVWM, CACH, CLE Autosomal recessive 603896 Ovarioleukodystrophy 3 +601368 DVL3 Dishevelled 3 (homologous to Drosophila dsh) ENSG00000161202 DVL3, DRS3 Autosomal dominant 616894 Robinow syndrome, autosomal dominant 3 3 +608750 ALG3 Alg3, S. cerevisiae, homolog of ENSG00000214160 ALG3, NOT56L, CDGS4, CDG1D Autosomal recessive 601110 Congenital disorder of glycosylation, type Id 3 +600495 EIF4G1 Eukaryotic translation initiation factor 4 gamma, 1 ENSG00000114867 EIF4G1, EIF4G, PARK18 amplified in squamous cell lung cancer Autosomal dominant 614251 Parkinson disease 18 3 +600570 CLCN2 Chloride channel-2 ENSG00000114859 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT Autosomal dominant 607628 Epilepsy, idiopathic generalized, susceptibility to, 11 3 +600570 CLCN2 Chloride channel-2 ENSG00000114859 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT Autosomal dominant 607628 Epilepsy, juvenile absence, susceptibility to, 2 3 +600570 CLCN2 Chloride channel-2 ENSG00000114859 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT Autosomal dominant 607628 Epilepsy, juvenile myoclonic, susceptibility to, 8 3 +600570 CLCN2 Chloride channel-2 ENSG00000114859 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT Autosomal recessive 615651 Leukoencephalopathy with ataxia 3 +600044 THPO Thrombopoietin (megakaryocyte growth and development factor) ENSG00000090534 THPO, MGDF, MPLLG, TPO, THCYT1 Autosomal dominant 187950 Thrombocythemia 1 3 +607037 EHHADH Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase ENSG00000113790 EHHADH, PBFE, LBFP, FRTS3 mutation identified in 1 family Autosomal dominant 615605 ?Fanconi renotubular syndrome 3 3 +607365 LIPH Lipase H ENSG00000163898 LIPH, LAH2, ARWH2, HYPT7 Autosomal recessive 604379 Hypotrichosis 7 3 +607365 LIPH Lipase H ENSG00000163898 LIPH, LAH2, ARWH2, HYPT7 Autosomal recessive 604379 Woolly hair, autosomal recessive 2 with or without hypotrichosis 3 +608289 IGF2BP2 Insulin-like growth factor 2 mRNA-binding protein 2 ENSG00000073792 IGF2BP2, IMP2 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, susceptibility to 3 +123730 CRYGS Crystallin, gamma S ENSG00000213139 CRYGS, CRYG8, CTRCT20 Autosomal dominant 116100 Cataract 20, multiple types 3 +142640 HRG Histidine-rich glycoprotein ENSG00000113905 HRG, THPH11 Autosomal dominant 613116 Thrombophilia due to HRG deficiency 3 +142640 HRG Histidine-rich glycoprotein ENSG00000113905 HRG, THPH11 Autosomal dominant 613116 Thrombophilia due to elevated HRG 1 +612358 KNG1 Kininogen 1 ENSG00000113889 KNG1, KNG Autosomal recessive 228960 High molecular weight kininogen deficiency 3 +612358 KNG1 Kininogen 1 ENSG00000113889 KNG1, KNG Autosomal recessive 228960 Kininogen deficiency 3 +605441 ADIPOQ Adipocyte-, C1q-, and collagen domain-containing ENSG00000181092 ADIPOQ, APM1, GBP28, ADIPQTL1 612556 Adiponectin deficiency 3 +600521 MASP1 Mannan-binding lectin serine protease-1 (C4/C2 activating component of Ra-reactive factor) ENSG00000127241 MASP1, CRARF, 3MC1 Autosomal recessive 257920 3MC syndrome 1 3 +109565 BCL6 B-cell CLL/lymphoma-6 ENSG00000113916 BCL6 109565 Lymphoma, B-cell 2 +600700 LPP Lipoma-preferred-partner gene ENSG00000145012 LPP fused with HMGIC in lipoma; fused with MLL in leukemia Autosomal dominant 601626 Leukemia, acute myeloid 3 +600700 LPP Lipoma-preferred-partner gene ENSG00000145012 LPP fused with HMGIC in lipoma; fused with MLL in leukemia Lipoma 3 +612009 Celiac disease, susceptibility to, 11 CELIAC11 associated with rs1464510 612009 Celiac disease, susceptibility to, 11 2 +614210 Lung cancer susceptibility 5 LNCR5 associated with rs4488809 614210 Lung cancer susceptibility 5 2 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 103285 ADULT syndrome 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 106260 Hay-Wells syndrome 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 603543 Limb-mammary syndrome 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 129400 Orofacial cleft 8 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 129400 Rapp-Hodgkin syndrome 3 +603273 TP63 Tumor protein p63 (tumor protein p73-like) ENSG00000073282 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Autosomal dominant 605289 Split-hand/foot malformation 4 3 +610341 P3H2 Prolyl 3-hydroxylase 2 ENSG00000090530 P3H2, LEPREL1, MCVD Autosomal recessive 614292 Myopia, high, with cataract and vitreoretinal degeneration 3 +603718 CLDN1 Claudin 1 ENSG00000163347 CLDN1, SEMP1, ILVASC Autosomal recessive 607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 3 +603959 CLDN16 Claudin 16 (paracellin 1) ENSG00000113946 CLDN16, PCLN1, HOMG3 Autosomal recessive 248250 Hypomagnesemia 3, renal 3 +611051 CCDC50 Coiled-coil domain-containing protein 50 ENSG00000152492 CCDC50, C3orf6, DFNA44 mutation identified in 1 DFNA44 family Autosomal dominant 607453 ?Deafness, autosomal dominant 44 3 +609425 Chromosome 3q29 microdeletion syndrome DEL3q29, MICRODEL3q29 contiguous gene deletion syndrome Isolated cases 609425 Chromosome 3q29 microdeletion syndrome 4 +611936 Chromosome 3q29 microduplication syndrome DUP3q29, MICRODUP3q29 contiguous gene duplication syndrome Autosomal dominant 611936 Chromosome 3q29 microduplication syndrome 4 +605290 OPA1 Optic atrophy 1 gene ENSG00000198836 OPA1, NTG, NPG, BERHS, MTDPS14 mutation identified in 1 MTDPS14 family Autosomal recessive 210000 Behr syndrome 3 +605290 OPA1 Optic atrophy 1 gene ENSG00000198836 OPA1, NTG, NPG, BERHS, MTDPS14 mutation identified in 1 MTDPS14 family 606657 Glaucoma, normal tension, susceptibility to 3 +605290 OPA1 Optic atrophy 1 gene ENSG00000198836 OPA1, NTG, NPG, BERHS, MTDPS14 mutation identified in 1 MTDPS14 family 616896 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 3 +605290 OPA1 Optic atrophy 1 gene ENSG00000198836 OPA1, NTG, NPG, BERHS, MTDPS14 mutation identified in 1 MTDPS14 family Autosomal dominant 165500 Optic atrophy 1 3 +605290 OPA1 Optic atrophy 1 gene ENSG00000198836 OPA1, NTG, NPG, BERHS, MTDPS14 mutation identified in 1 MTDPS14 family Autosomal dominant 125250 Optic atrophy plus syndrome 3 +190010 TFRC Transferrin receptor ENSG00000072274 TFRC, TFR, CD71, IMD46 Autosomal recessive 616740 Immunodeficiency 46 3 +123695 PCYT1A Phosphate cytidylyltransferase 1, choline, alpha isoform ENSG00000161217 PCYT1A, CTPCT, PCYT1, SMDCRD Autosomal recessive 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 3 +612688 RNF168 RING finger protein 168 ENSG00000163961 RNF168 Autosomal recessive 611943 RIDDLE syndrome 3 +615586 CEP19 Centrosomal protein, 19kD ENSG00000174007 CEP19, C3orf34, MOSPGF mutation identified in 1 family Autosomal recessive 615703 Morbid obesity and spermatogenic failure 3 +613516 RUBCN RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ENSG00000145016 RUBCN, RUBICON, KIAA0226, SCAR15 mutation identified in 1 family Autosomal recessive 615705 ?Spinocerebellar ataxia, autosomal recessive 15 3 +180468 RPL35A Ribosomal protein L35A ENSG00000182899 RPL35A, DBA5 previous assignment to chr.18 in error 612528 Diamond-Blackfan anemia 5 3 +600593 Craniosynostosis, Adelaide type CRSA, CRS3 ?Autosomal dominant 600593 Craniosynostosis, Adelaide type 2 +603783 Intelligence quantitative trait locus 1 INTLQ1 associated with D4S2943, MSX1, and D4S1607 603783 Intelligence QTL1 2 +609456 Muscular dystrophy, congenital, merosin-positive MDCMP max lod at D4S432 Autosomal recessive 609456 Muscular dystrophy, congenital, merosin-positive 2 +603663 Mental health wellness 1 MHW1 at D4S2949 603663 Mental health wellness-1 2 +611863 Microtia with nasolacrimal duct imperforation and eye coloboma MNDEC copy number variant (CNV) association Microtia with nasolacrimal duct imperforation and eye coloboma 1 +611637 Primary lateral sclerosis, adult, 1 PLSA1, PLSA max lod at D4S2936 Autosomal dominant 611637 Primary lateral sclerosis, adult, 1 2 +605480 SLEB3 Systemic lupus erythematosus, susceptibility to, 3 SLEB3 605480 Systemic lupus erythematosus, susceptibility to, 3 2 +612335 SPG38 Spastic paraplegia 38, autosomal dominant SPG38 between D4S432 and D4S1599 Autosomal dominant 612335 Spastic paraplegia 38, autosomal dominant 2 +194190 Wolf-Hirschhorn syndrome WHS contiguous gene syndrome; critical region 200kb region 1.9Mb from telomere Isolated cases 194190 Wolf-Hirschhorn syndrome 4 +194648 ZNF141 Zinc finger protein-141 (clone pHZ-44) ENSG00000131127 ZNF141, D4S90, PAPA6 1 family identified with mutation Autosomal recessive 615226 ?Polydactyly, postaxial, type A6 3 +616918 PIGG Phosphatidylinositol glycan anchor biosynthesis class G protein ENSG00000174227 PIGG, GPI7, MRT53 Autosomal recessive 616917 Mental retardation, autosomal recessive 53 3 +180072 PDE6B Phosphodiesterase-6B, cGMP-specific, rod, beta ENSG00000133256 PDE6B, PDEB, RP40, CSNBAD2 Autosomal dominant 163500 Night blindness, congenital stationary, autosomal dominant 2 3 +180072 PDE6B Phosphodiesterase-6B, cGMP-specific, rod, beta ENSG00000133256 PDE6B, PDEB, RP40, CSNBAD2 Autosomal recessive 613801 Retinitis pigmentosa-40 3 +610130 SLC26A1 Solute carrier family 26 (sulfate transporter), member 1 ENSG00000145217 SLC25A1, SAT1, CAON mutation identified in 1 CAON patient Autosomal recessive 167030 ?Nephrolithiasis, calcium oxalate 3 +252800 IDUA Iduronidase, alpha-L- ENSG00000127415 IDUA, IDA Autosomal recessive 607014 Mucopolysaccharidosis Ih 3 +252800 IDUA Iduronidase, alpha-L- ENSG00000127415 IDUA, IDA Autosomal recessive 607015 Mucopolysaccharidosis Ih/s 3 +252800 IDUA Iduronidase, alpha-L- ENSG00000127415 IDUA, IDA Autosomal recessive 607016 Mucopolysaccharidosis Is 3 +612041 RNF212 Ring finger protein 212 ENSG00000178222 RNF212, ZHP3 612042 Recombination rate QTL 1 3 +614632 UVSSA UV-stimulated scaffold protein A ENSG00000163945 UVSSA, KIAA1530, UVSS3 Autosomal recessive 614640 UV-sensitive syndrome 3 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 100800 Achondroplasia 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH 109800 Bladder cancer, somatic 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal recessive, Autosomal dominant 610474 CATSHL syndrome 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH 603956 Cervical cancer, somatic 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH 114500 Colorectal cancer, somatic 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 612247 Crouzon syndrome with acanthosis nigricans 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 146000 Hypochondroplasia 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 149730 LADD syndrome 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 602849 Muenke syndrome 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH 162900 Nevus, epidermal, somatic 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 616482 SADDAN 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH 273300 Spermatocytic seminoma, somatic 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 187600 Thanatophoric dysplasia, type I 3 +134934 FGFR3 Fibroblast growth factor receptor-3 ENSG00000068078 FGFR3, ACH Autosomal dominant 187601 Thanatophoric dysplasia, type II 3 +610647 NAT8L N-acetyltransferase 8-like ENSG00000185818 NAT8L, CML3, NACED mutation identified in 1 family Autosomal recessive 614063 ?N-acetylaspartate deficiency 3 +602104 SH3BP2 SH3-domain binding protein 2 ENSG00000087266 SH3BP2, CRPM Autosomal dominant 118400 Cherubism 3 +102680 ADD1 Adducin-1, alpha ENSG00000087274 ADD1 Multifactorial 145500 Hypertension, essential, salt-sensitive 3 +613004 HTT Huntingtin ENSG00000197386 HTT, HD, IT15 distal to D4S10 Autosomal dominant 143100 Huntington disease 3 +610285 DOK7 Downstream of tyrosine kinase 7 ENSG00000175920 DOK7, C4orf25, CMS10 mutation identified in 1 FADS family Autosomal recessive 208150 ?Fetal akinesia deformation sequence 3 +610285 DOK7 Downstream of tyrosine kinase 7 ENSG00000175920 DOK7, C4orf25, CMS10 mutation identified in 1 FADS family Autosomal recessive 254300 Myasthenic syndrome, congenital, 10 3 +104225 LRPAP1 Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) ENSG00000163956 LRPAP1, A2MRAP, MYP23 Autosomal recessive 615431 Myopia 23, autosomal recessive 3 +104250 ADRA2C Adrenergic, alpha-2C-, receptor ENSG00000184160 ADRA2C, ADRA2L2 linked to D4S10 Congestive heart failure and beta-blocker response, modifier of 3 +142983 MSX1 Muscle segment homeo box, Drosophila, homolog of, 1 (homeo box 7) ENSG00000163132 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 Autosomal dominant 189500 Ectodermal dysplasia 3, Witkop type 3 +142983 MSX1 Muscle segment homeo box, Drosophila, homolog of, 1 (homeo box 7) ENSG00000163132 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 608874 Orofacial cleft 5 3 +142983 MSX1 Muscle segment homeo box, Drosophila, homolog of, 1 (homeo box 7) ENSG00000163132 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 Autosomal dominant 106600 Tooth agenesis, selective, 1, with or without orofacial cleft 3 +607261 EVC2 Limbin ENSG00000173040 LBN, EVC2, WAD Autosomal recessive 225500 Ellis-van Creveld syndrome 3 +607261 EVC2 Limbin ENSG00000173040 LBN, EVC2, WAD Autosomal dominant 193530 Weyers acrofacial dysostosis 3 +604831 EVC Ellis-van Creveld syndrome gene ENSG00000072840 EVC Autosomal recessive 225500 Ellis-van Creveld syndrome 3 +604831 EVC Ellis-van Creveld syndrome gene ENSG00000072840 EVC Autosomal dominant 193530 Weyers acrodental dysostosis 3 +606201 WFS1 Wolframin ENSG00000109501 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 mutation identified in 1 CTRCT41 family Autosomal dominant 116400 ?Cataract 41 3 +606201 WFS1 Wolframin ENSG00000109501 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 mutation identified in 1 CTRCT41 family Autosomal dominant 600965 Deafness, autosomal dominant 6/14/38 3 +606201 WFS1 Wolframin ENSG00000109501 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 mutation identified in 1 CTRCT41 family Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, association with 3 +606201 WFS1 Wolframin ENSG00000109501 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 mutation identified in 1 CTRCT41 family Autosomal recessive 222300 Wolfram syndrome 3 +606201 WFS1 Wolframin ENSG00000109501 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 mutation identified in 1 CTRCT41 family Autosomal dominant 614296 Wolfram-like syndrome, autosomal dominant 3 +142992 HMX1 Homeo box (H6 family) 1 ENSG00000215612 HMX1, H6 Autosomal recessive 612109 Oculoauricular syndrome 3 +606142 SLC2A9 Solute carrier family 2 (facilitated glucose transporter), member 9 ENSG00000109667 SLC2A9, GLUT9, UAQTL2 Autosomal recessive, Autosomal dominant 612076 Hypouricemia, renal, 2 3 +606142 SLC2A9 Solute carrier family 2 (facilitated glucose transporter), member 9 ENSG00000109667 SLC2A9, GLUT9, UAQTL2 Autosomal recessive, Autosomal dominant 612076 Uric acid concentration, serum, QTL 2 3 +126453 DRD5 Dopamine receptor D5 ENSG00000169676 DRD5, DRD1B, DRD1L2 pseudogenes on 2p11 and 1q21 Autosomal dominant 143465 Attention deficit-hyperactivity disorder, susceptibility to 3 +126453 DRD5 Dopamine receptor D5 ENSG00000169676 DRD5, DRD1B, DRD1L2 pseudogenes on 2p11 and 1q21 Isolated cases 606798 Blepharospasm, primary benign 3 +126453 DRD5 Dopamine receptor D5 ENSG00000169676 DRD5, DRD1B, DRD1L2 pseudogenes on 2p11 and 1q21 Dystonia, primary cervical 3 +608410 Body mass index quantitative trait locus 7 BMIQ7 608410 Obesity, susceptibility to, BMIQ7 2 +607221 Epilepsy, partial, with pericentral spikes EPPS 607221 Epilepsy, partial, with pericentral spikes 2 +604802 Huntington disease-like 3 HDL3, HLN2 Autosomal recessive 604802 Huntington disease-like 3 2 +612226 Stature quantitative trait locus 13 STQTL13 associated with rs16896068 612226 Stature QTL 13 2 +612994 RAB28 Ras-associated protein 28 ENSG00000157869 RAB28, CORD18 Autosomal recessive 615374 Cone-rod dystrophy 18 3 +602183 NKX3-2 Bagpipe homeo box, Drosophila, homolog of ENSG00000109705 NKX3-2, BAPX1, SMMD Autosomal recessive 613330 Spondylo-megaepiphyseal-metaphyseal dysplasia 3 +612013 CC2D2A Coiled-coil and C2 domains-containing protein 2A ENSG00000048342 CC2D2A, KIAA1345, MKS6 Autosomal recessive 216360 COACH syndrome 3 +612013 CC2D2A Coiled-coil and C2 domains-containing protein 2A ENSG00000048342 CC2D2A, KIAA1345, MKS6 Autosomal recessive 612285 Joubert syndrome 9 3 +612013 CC2D2A Coiled-coil and C2 domains-containing protein 2A ENSG00000048342 CC2D2A, KIAA1345, MKS6 Autosomal recessive 612284 Meckel syndrome 6 3 +604365 PROM1 Prominin 1 ENSG00000007062 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 612657 Cone-rod dystrophy 12 3 +604365 PROM1 Prominin 1 ENSG00000007062 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 Autosomal dominant 608051 Macular dystrophy, retinal, 2 3 +604365 PROM1 Prominin 1 ENSG00000007062 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 Autosomal recessive 612095 Retinitis pigmentosa 41 3 +604365 PROM1 Prominin 1 ENSG00000007062 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 603786 Stargardt disease 4 3 +612758 TAPT1 Transmembrane anterior posterior transformation 1 ENSG00000169762 TAPT1, CMVFR, OCLSBG Autosomal recessive 616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 3 +612676 QDPR Quinoid dihydropteridine reductase ENSG00000151552 QDPR, DHPR Autosomal recessive 261630 Hyperphenylalaninemia, BH4-deficient, C 3 +185490 SOD3 Superoxide dismutase-3, extracellular ENSG00000109610 SOD3 Superoxide dismutase, elevated extracellular 3 +613009 SEPSECS O-phosphoserine tRNA-selenocysteine tRNA synthase ENSG00000109618 SEPSECS, SLA, LP, PCH2D Autosomal recessive 613811 Pontocerebellar hypoplasia type 2D 3 +604217 SLC34A2 Solute carrier family 34 (sodium/phosphate cotransporter), member 2 ENSG00000157765 SLC34A2 Autosomal recessive 265100 Pulmonary alveolar microlithiasis 3 +147183 RBPJ Recombination signal-binding protein 1 for kappa J region ENSG00000168214 RBPJ, RBPSUH, IGKJRB1, AOS3 pseudogenes at 9q13, 9p13, and 3q25 Autosomal dominant 614814 Adams-Oliver syndrome 3 3 +607107 Nasopharyngeal carcinoma 1 NPC1, NPCA1 ?associated with acyl-CoA thioesterase 7-like 607107 Nasopharyngeal carcinoma 1 2 +601194 TLR1 Toll-like receptor-1 ENSG00000174125 TLR1, TIL. LPRS5 613223 Leprosy, protection against 3 +601194 TLR1 Toll-like receptor-1 ENSG00000174125 TLR1, TIL. LPRS5 613223 Leprosy, susceptibility to, 5 3 +608151 WDR19 WD repeat-containing protein 19 ENSG00000157796 WDR19, SRTD5, ATD5, NPHP13, CED4 mutation identified in 1 CED4 family and 1 SRTD5 family Autosomal recessive 614378 ?Cranioectodermal dysplasia 4 3 +608151 WDR19 WD repeat-containing protein 19 ENSG00000157796 WDR19, SRTD5, ATD5, NPHP13, CED4 mutation identified in 1 CED4 family and 1 SRTD5 family Autosomal recessive 614377 Nephronophthisis 13 3 +608151 WDR19 WD repeat-containing protein 19 ENSG00000157796 WDR19, SRTD5, ATD5, NPHP13, CED4 mutation identified in 1 CED4 family and 1 SRTD5 family Autosomal recessive 616307 Senior-Loken syndrome 8 3 +608151 WDR19 WD repeat-containing protein 19 ENSG00000157796 WDR19, SRTD5, ATD5, NPHP13, CED4 mutation identified in 1 CED4 family and 1 SRTD5 family Autosomal recessive 614376 ?Short-rib thoracic dysplasia 5 with or without polydactyly 3 +607031 LIAS Lipoic acid synthase ENSG00000121897 LIAS, PDHLD, HGCLAS Autosomal recessive 614462 Hyperglycinemia, lactic acidosis, and seizures 3 +605841 Narcolepsy 2 NRCLP2 max lod at D4S2987 605841 Narcolepsy 2 2 +191342 UCHL1 Ubiquitin C-terminal esterase L1 ENSG00000154277 UCHL1, PARK5, NDGOA mutation identified in 1 NDGOA family and 1 PARK5 family Autosomal recessive 615491 ?Neurodegeneration with optic atrophy, childhood onset 3 +191342 UCHL1 Ubiquitin C-terminal esterase L1 ENSG00000154277 UCHL1, PARK5, NDGOA mutation identified in 1 NDGOA family and 1 PARK5 family 613643 ?{Parkinson disease 5, susceptibility to 3 +603851 PHOX2B Paired mesoderm homeo box 2B ENSG00000109132 PMX2B, NBPHOX, PHOX2B, NBLST2 Autosomal dominant 209880 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 3 +603851 PHOX2B Paired mesoderm homeo box 2B ENSG00000109132 PMX2B, NBPHOX, PHOX2B, NBLST2 613013 Neuroblastoma with Hirschsprung disease 3 +603851 PHOX2B Paired mesoderm homeo box 2B ENSG00000109132 PMX2B, NBPHOX, PHOX2B, NBLST2 613013 Neuroblastoma, susceptibility to, 2 3 +613283 GRXCR1 Glutaredoxin, cysteine-rich, 1 ENSG00000215203 GRXCR1 Autosomal recessive 613285 Deafness, autosomal recessive 25 3 +617064 GUF1 GTPase, S. cerevisiae, homolog of ENSG00000151806 GUF1, EF4, EIEE40 mutation identified in 1 EIEE40 family Autosomal recessive 617065 ?Epileptic encephalopathy, early infantile, 40 3 +137140 GABRA2 Gamma-aminobutyric acid (GABA) A receptor, alpha-2 ENSG00000151834 GABRA2 Multifactorial 103780 Alcohol dependence, susceptibility to 3 +605236 CORIN Corin, serine peptidase ENSG00000145244 CORIN, CRN, TMPRSS10, ATC2, PEE5 614595 Preeclampsia/eclampsia 5 3 +123825 CNGA1 Cyclic nucleotide gated channel, alpha 1 ENSG00000198515 CNGA1, CNCG1, RP49 613756 Retinitis pigmentosa 49 3 +603664 Mental health wellness 2 MHW2 at D4S397 603664 Mental health wellness-2 2 +601454 PSORS3 Psoriasis susceptibility 3 PSORS3 601454 Psoriasis susceptibility 3 2 +610430 Macroglobulinemia, Waldenstrom, susceptibility to, 2 WM2 between D4S2910 and D4S1539 610430 Macroglobulinemia, Waldenstrom, susceptibility to, 2 2 +612431 DFNA27 Deafness, autosomal dominant 27 DFNA27 max lod at D4S398 Autosomal dominant 612431 Deafness, autosomal dominant 27 2 +609952 DFNB55 Deafness, autosomal recessive 55 DFNB55 max lod at D4S2638 Autosomal recessive 609952 Deafness, autosomal recessive 55 2 +614329 Mental retardation, autosomal recessive 31 MRT31 between rs11944876 and rs6551838 Autosomal recessive 614329 Mental retardation, autosomal recessive 31 2 +609258 MYP9 Myopia 9 MYP9 Multifactorial 609258 Myopia 9 2 +106700 TAPVR1 Total anomalous pulmonary venous return 1 TAPVR1 between D4S1630 and D4S3019; ?mutation in KDR Autosomal dominant 106700 Total anomalous pulmonary venous return 2 +600900 SGCB Sarcoglycan, beta (43kD dystrophin-associated glycoprotein) ENSG00000163069 SGCB, LGMD2E Autosomal recessive 604286 Muscular dystrophy, limb-girdle, type 2E 3 +604332 CHIC2 Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in leukemia) ENSG00000109220 CHIC2, BTL Autosomal dominant 601626 Leukemia, acute myeloid 3 +173490 PDGFRA Platelet-derived growth factor receptor, alpha polypeptide ENSG00000134853 PDGFRA same 700bp segment as KIT; fused to BCR or FIP1L1 606764 Gastrointestinal stromal tumor, somatic 3 +173490 PDGFRA Platelet-derived growth factor receptor, alpha polypeptide ENSG00000134853 PDGFRA same 700bp segment as KIT; fused to BCR or FIP1L1 Isolated cases, Somatic mutation 607685 Hypereosinophilic syndrome, idiopathic, resistant to imatinib 3 +164920 KIT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene ENSG00000157404 KIT, PBT same 700bp segment as PDGFRA Autosomal dominant, Isolated cases 606764 Gastrointestinal stromal tumor, familial 3 +164920 KIT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene ENSG00000157404 KIT, PBT same 700bp segment as PDGFRA Somatic mutation 273300 Germ cell tumors 3 +164920 KIT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene ENSG00000157404 KIT, PBT same 700bp segment as PDGFRA Autosomal dominant 601626 Leukemia, acute myeloid 3 +164920 KIT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene ENSG00000157404 KIT, PBT same 700bp segment as PDGFRA Autosomal dominant 154800 Mast cell disease 3 +164920 KIT Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene ENSG00000157404 KIT, PBT same 700bp segment as PDGFRA Autosomal dominant 172800 Piebaldism 3 +191306 KDR Kinase insert domain receptor ENSG00000128052 KDR ?mutant in TAPVR1 602089 Hemangioma, capillary infantile, somatic 3 +191306 KDR Kinase insert domain receptor ENSG00000128052 KDR ?mutant in TAPVR1 Autosomal dominant 602089 Hemangioma, capillary infantile, susceptibility to 3 +611715 SRD5A3 Steroid 5-alpha-reductase 3 ENSG00000128039 SRD5A3, SRD5A2L, CDG1Q, KRIZI Autosomal recessive 612379 Congenital disorder of glycosylation, type Iq 3 +611715 SRD5A3 Steroid 5-alpha-reductase 3 ENSG00000128039 SRD5A3, SRD5A2L, CDG1Q, KRIZI Autosomal recessive 612713 Kahrizi syndrome 3 +614726 TMEM165 Transmembrane protein 165 ENSG00000134851 TMEM165, FT27, CDG2K Autosomal recessive 614727 Congenital disorder of glycosylation, type IIk 3 +611423 CEP135 Centrosomal protein, 135kD ENSG00000174799 CEP135, KIAA0635, MCPH8 mutation identified in 1 MCPH8 family Autosomal recessive 614673 ?Microcephaly 8, primary, autosomal recessive 3 +602122 SRP72 Signal recognition particle, 72kD ENSG00000174780 SRP72, BMFS1 Autosomal dominant 614675 Bone marrow failure syndrome 1 3 +600571 REST RE1-silencing transcription factor ENSG00000084093 REST, NRSF, WT6 616806 Wilms tumor 6, susceptibility to 3 +602867 IGFBP7 Insulin-like growth factor-binding protein-7 ENSG00000163453 IGFBP7, MAC25, RAMSVPS Autosomal recessive 614224 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 3 +609400 Autoimmune disease, susceptibility to, 4 AIS4, VAMAS5 between D4S392 and D4S3042 609400 Autoimmune disease, susceptibility to, 4 2 +611630 Epilepsy, familial temporal lobe, 3 ETL3, FMTLE max lod at D4S1517 Autosomal dominant 611630 Epilepsy, familial temporal lobe, 3 2 +138850 GNRHR Gonadotropin-releasing hormone receptor ENSG00000109163 GNRHR, LHRHR, HH7 placed at 4q12 or 4q13 by some Autosomal recessive 146110 Hypogonadotropic hypogonadism 7 without anosmia 3 +601903 UGT2B17 UDP-glucuronyltransferase, family 2, beta-17 ENSG00000197888 UGT2B17, BMND12 612560 Bone mineral density QTL 12, osteoporosis 3 +158375 MUC7 Mucin 7, salivary ENSG00000171195 MUC7 Autosomal dominant 600807 Asthma, protection against 3 +601259 AMBN Ameloblastin ENSG00000178522 AMBN, AI1F mutation identified in 1 AI1F family Autosomal recessive 616270 Amelogenesis imperfecta, type IF 3 +606585 ENAM Enamelin ENSG00000132464 ENAM, AIH2, AI1C Autosomal dominant 104500 Amelogenesis imperfecta, type IB 3 +606585 ENAM Enamelin ENSG00000132464 ENAM, AIH2, AI1C Autosomal recessive 204650 Amelogenesis imperfecta, type IC 3 +603345 SLC4A4 Solute carrier family 4, sodium bicarbonate cotransporter, member 4 ENSG00000080493 SLC4A4, NBC1, KNBC Autosomal recessive 604278 Renal tubular acidosis, proximal, with ocular abnormalities 3 +103600 ALB Albumin ENSG00000163631 ALB, ANALBA, FDAH linked to GC 616000 Analbuminemia 3 +103600 ALB Albumin ENSG00000163631 ALB, ANALBA, FDAH linked to GC 615999 Dysalbuminemic hyperthyroxinemia 3 +104150 AFP Alpha-fetoprotein ENSG00000081051 AFP, HPAFP, AFPD order: 5'-ALB-3'--5'-AFP-3' Autosomal recessive 615969 Alpha-fetoprotein deficiency 3 +104150 AFP Alpha-fetoprotein ENSG00000081051 AFP, HPAFP, AFPD order: 5'-ALB-3'--5'-AFP-3' Autosomal dominant 615970 Hereditary persistence of alpha-fetoprotein 3 +613509 Chromosome 4q21 deletion syndrome DEL4q21, C4DELq21 contigous gene deletion if at least 30 genes Isolated cases 613509 Chromosome 4q21 deletion syndrome 4 +608371 Orofacial cleft 4 OFC4 608371 Orofacial cleft 4 2 +614829 C4orf26 Chromosome 4 open reading frame 26 ENSG00000174792 C4orf26, AI2A4 Autosomal recessive 614832 Amelogenesis imperfecta, type IIA4 3 +602257 SCARB2 Scavenger receptor class B, member 2 ENSG00000138760 SCARB2, CD36L2, LIMPII, AMRF, EPM4 Autosomal recessive 254900 Epilepsy, progressive myoclonic 4, with or without renal failure 3 +607830 FRAS1 FRAS1 gene ENSG00000138759 FRAS1 Autosomal recessive 219000 Fraser syndrome 3 +608041 ANTXR2 Anthrax toxin receptor 2 ENSG00000163297 ANTXR2, CMG2, HFS Autosomal recessive 228600 Hyaline fibromatosis syndrome 3 +616639 PRDM8 PR domain-containing protein 8 ENSG00000152784 PRDM8, EPM10 mutation identified in 1 EPM10 family Autosomal recessive 616640 ?Epilepsy, progressive myoclonic, 10 3 +165190 FGF5 Fibroblast growth factor-5 ENSG00000138675 FGF5, TCMGLY Autosomal recessive 190330 Trichomegaly 3 +607137 HNRNPDL Heterogeneous nuclear ribonucleoprotein D-like protein ENSG00000152795 HNRNPDL, HNRPDL, JKTBP, LGMD1G Autosomal dominant 609115 Muscular dystrophy, limb-girdle, type 1G 3 +609825 COQ2 CoQ2, S. cerevisiae, homolog of (parahydroxybenzoate-polyprenyltransferase, mitochondrial) ENSG00000173085 COQ2, COQ10D1, MSA1 Autosomal recessive 607426 Coenzyme Q10 deficiency, primary, 1 3 +609825 COQ2 CoQ2, S. cerevisiae, homolog of (parahydroxybenzoate-polyprenyltransferase, mitochondrial) ENSG00000173085 COQ2, COQ10D1, MSA1 Autosomal recessive, Autosomal dominant 146500 Multiple system atrophy, susceptibility to 3 +613518 Dermatitis, atopic, 8 ATOD8 613518 Dermatitis, atopic, susceptibility to, 8 2 +612343 Musical aptitude quantitative trait locus 1 MUSQTL1 near D4S423 and D4S2460 612343 Musical aptitude QTL 1 2 +609994 MYP11 Myopia 11 MYP11 max lod at D4S1564 609994 Myopia 11 2 +125485 DSPP Dentin sialophosphoprotein ENSG00000152591 DSPP, DPP, DGI1, DFNA39, DTDP2 Autosomal dominant 605594 Deafness, autosomal dominant 39, with dentinogenesis 3 +125485 DSPP Dentin sialophosphoprotein ENSG00000152591 DSPP, DPP, DGI1, DFNA39, DTDP2 Autosomal dominant 125420 Dentin dysplasia, type II 3 +125485 DSPP Dentin sialophosphoprotein ENSG00000152591 DSPP, DPP, DGI1, DFNA39, DTDP2 Autosomal dominant 125490 Dentinogenesis imperfecta, Shields type II 3 +125485 DSPP Dentin sialophosphoprotein ENSG00000152591 DSPP, DPP, DGI1, DFNA39, DTDP2 Autosomal dominant 125500 Dentinogenesis imperfecta, Shields type III 3 +600980 DMP1 Dentin matrix acidic phosphoprotein ENSG00000152592 DMP1, ARHR, ARHP Autosomal recessive 241520 Hypophosphatemic rickets, AR 3 +173910 PKD2 Polycystin-2 ENSG00000118762 PKD2 613095 Polycystic kidney disease 2 3 +603756 ABCG2 ATP-binding cassette, subfamily G, member 2 ENSG00000118777 ABCG2, BCRP, ABCP, UAQTL1, GOUT1 614490 Junior blood group system 3 +603756 ABCG2 ATP-binding cassette, subfamily G, member 2 ENSG00000118777 ABCG2, BCRP, ABCP, UAQTL1, GOUT1 ?Autosomal dominant 138900 Uric acid concentration, serum, QTL1 3 +611065 PPM1K Protein phosphatase, PP2C domain-containing, 1K ENSG00000163644 PPM1K, PP2CM, PTMP, MSUDMV mutation identified in 1 MSUDMV family 615135 ?Maple syrup urine disease, mild variant 3 +610662 PIGY Phosphatidylinositol glycan, class Y ENSG00000255072 PIGY, HPMRS6 Autosomal recessive 616809 Hyperphosphatasia with mental retardation syndrome 6 3 +163890 SNCA Synuclein, alpha (non A4 component of amyloid precursor) ENSG00000145335 SNCA, NACP, PARK1, PARK4 Autosomal dominant 127750 Dementia, Lewy body 3 +163890 SNCA Synuclein, alpha (non A4 component of amyloid precursor) ENSG00000145335 SNCA, NACP, PARK1, PARK4 Autosomal dominant 168601 Parkinson disease 1 3 +163890 SNCA Synuclein, alpha (non A4 component of amyloid precursor) ENSG00000145335 SNCA, NACP, PARK1, PARK4 Autosomal dominant 605543 Parkinson disease 4 3 +602368 GRID2 Glutamate receptor, ionotropic, delta-2 ENSG00000152208 GRID2, SCAR18 Autosomal recessive 616204 Spinocerebellar ataxia, autosomal recessive 18 3 +612761 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1 ENSG00000163104 SMARCAD1, KIAA1122, ETL1, HEL1, ADERM Autosomal dominant 136000 Adermatoglyphia 3 +603248 BMPR1B Bone morphogenetic protein receptor, type IB ENSG00000138696 BMPR1B, ALK6, AMDD, BDA2, BDA1D Autosomal recessive 609441 Acromesomelic dysplasia, Demirhan type 3 +603248 BMPR1B Bone morphogenetic protein receptor, type IB ENSG00000138696 BMPR1B, ALK6, AMDD, BDA2, BDA1D Autosomal dominant 616849 Brachydactyly, type A1, D 3 +603248 BMPR1B Bone morphogenetic protein receptor, type IB ENSG00000138696 BMPR1B, ALK6, AMDD, BDA2, BDA1D Autosomal dominant 112600 Brachydactyly, type A2 3 +181600 TYS Sclerotylosis TYS, HRZ Autosomal dominant 181600 Huriez syndrome 2 +179502 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 ENSG00000138698 RAP1GDS1 fusion partner with NUP98 in ALL Lymphocytic leukemia, acute T-cell 3 +133440 EIF4E Eukaryotic translation initiation factor 4E ENSG00000151247 EIF4E, EIF4EL1, AUTS19 pseudogene on 20 615091 Autism, susceptibility to, 19 3 +103720 ADH1B Alcohol dehydrogenase IB (class I), beta polypeptide ENSG00000196616 ADH1B, ADH2 Aerodigestive tract cancer, squamous cell, alcohol-related, protection against 3 +103720 ADH1B Alcohol dehydrogenase IB (class I), beta polypeptide ENSG00000196616 ADH1B, ADH2 Multifactorial 103780 Alcohol dependence, protection against 3 +103730 ADH1C Alcohol dehydrogenase IC (class I), gamma polypeptide ENSG00000248144 ADH1C, ADH3 Multifactorial 103780 Alcohol dependence, protection against 3 +103730 ADH1C Alcohol dehydrogenase IC (class I), gamma polypeptide ENSG00000248144 ADH1C, ADH3 Isolated cases, Multifactorial 168600 Parkinson disease, susceptibility to 3 +616013 TRMT10A tRNA methyltransferase 10, S. cerevisiae, homolog of, A ENSG00000145331 TRMT10A, RG9MTD2, MSSGM1 Autosomal recessive 616033 Microcephaly, short stature, and impaired glucose metabolism 1 3 +157147 MTTP Microsomal triglyceride transfer protein, 88kD ENSG00000138823 MTP Autosomal recessive 200100 Abetalipoproteinemia 3 +157147 MTTP Microsomal triglyceride transfer protein, 88kD ENSG00000138823 MTP Autosomal dominant 605552 Metabolic syndrome, protection against 3 +613340 Epilepsy, hot water, 2 HWE2 between D4S1572 and D4S2277 613340 Epilepsy, hot water, 2 2 +157300 Migraine with or without aura, susceptibility to, 1 MGR1, MA Autosomal dominant 157300 Migraine with or without aura, susceptibility to, 1 2 +615312 OCA5 Albinism, oculocutaneous, type V OCA5 max lod at D4S961 Autosomal recessive 615312 Albinism, oculocutaneous, type V 2 +608732 SLC39A8 Solute carrier family 39 (zinc transporter), member 8 ENSG00000138821 SLC39A8, BIGM103, CDG2N Autosomal recessive 616721 Congenital disorder of glycosylation, type IIn 3 +164011 NFKB1 Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105) ENSG00000109320 NFKB1, CVID12 Autosomal dominant 616576 Immunodeficiency, common variable, 12 3 +609489 MANBA Mannosidase, beta A, lysosomal ENSG00000109323 MANBA, MANB1 linked in mouse to Adl-3 Autosomal recessive 248510 Mannosidosis, beta 3 +611507 CISD2 CDGSH iron sulfur domain protein 2 ENSG00000145354 CISD2, WFS2, ZCD2, ERIS Autosomal recessive 604928 Wolfram syndrome 2 3 +117143 CENPE Centromere autoantigen E, 312kD ENSG00000138778 CENPE, MCPH13 mutation identified in 1 MCPH13 family Autosomal recessive 616051 ?Microcephaly 13, primary, autosomal recessive 3 +162332 TACR3 Tachykinin receptor 3 ENSG00000169836 TACR3, NK3R, HH11 Autosomal recessive 614840 Hypogonadotropic hypogonadism 11 with or without anosmia 3 +612839 TET2 TET oncogene family, member 2 ENSG00000168769 TET2, KIAA1546, MDS 614286 Myelodysplastic syndrome, somatic 3 +616899 TBCK TBC1 domain-containing kinase ENSG00000145348 TBCK, IHPRF3 Autosomal recessive 616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 3 +603605 AIMP1 ARS-interacting multifunctional protein 1 ENSG00000164022 AIMP1, SCYE1, EMAP2, EMAPII, HLD3 Autosomal recessive 260600 Leukodystrophy, hypomyelinating, 3 3 +611494 Atrial fibrillation, familial, 5 ATFB5 association with rs2200733 and rs10033464 611494 Atrial fibrillation, familial, 5 2 +152430 Longevity 1, QTL LGV1 maximum lod at D4S1564 152430 Longevity 1 2 +610670 CYP2U1 Cytochrome P450, family 2, subfamily U, polypeptide 1 ENSG00000155016 CYP2U1, SPG56 Autosomal recessive 615030 Spastic paraplegia 56, autosomal recessive 3 +601609 HADH L-3-hydroxyacyl-CoA dehydrogenase, short chain ENSG00000138796 HADHSC, SCHAD, HHF4 Autosomal recessive 231530 3-hydroxyacyl-CoA dehydrogenase deficiency 3 +601609 HADH L-3-hydroxyacyl-CoA dehydrogenase, short chain ENSG00000138796 HADHSC, SCHAD, HHF4 Autosomal recessive 609975 Hyperinsulinemic hypoglycemia, familial, 4 3 +153245 LEF1 Lymphoid enhancer-binding factor-1 ENSG00000138795 LEF1 Sebaceous tumors, somatic 3 +610004 COL25A1 Collagen, type XXV, alpha-1 polypeptide ENSG00000188517 COL25A1, CLAC, CFEOM5 Autosomal recessive 616219 Fibrosis of extraocular muscles, congenital, 5 3 +217030 CFI Complement factor I ENSG00000205403 CFI, FI, AHUS3, ARMD13 40kb distal to EGF Autosomal recessive 610984 Complement factor I deficiency 3 +217030 CFI Complement factor I ENSG00000205403 CFI, FI, AHUS3, ARMD13 40kb distal to EGF Autosomal dominant 612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3 3 +217030 CFI Complement factor I ENSG00000205403 CFI, FI, AHUS3, ARMD13 40kb distal to EGF Autosomal dominant 615439 Macular degeneration, age-related, 13, susceptibility to 3 +615004 LRIT3 Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3 ENSG00000183423 LRIT3, FIGLER4, CSNB1F Autosomal recessive 615058 Night blindness, congenital stationary (complete), 1F, autosomal recessive 3 +131530 EGF Epidermal growth factor (urogastrone) ENSG00000138798 EGF, URG, HOMG4 linked to ADH3; cen-ADH3-EGF-IL2-qter 611718 Hypomagnesemia 4, renal 3 +601542 PITX2 Paired-like homeodomain transcription factor-2 ENSG00000164093 PITX2, IDG2, RIEG1, RGS, IGDS2 Autosomal dominant 180500 Axenfeld-Rieger syndrome, type 1 3 +601542 PITX2 Paired-like homeodomain transcription factor-2 ENSG00000164093 PITX2, IDG2, RIEG1, RGS, IGDS2 Autosomal dominant 137600 Iridogoniodysgenesis, type 2 3 +601542 PITX2 Paired-like homeodomain transcription factor-2 ENSG00000164093 PITX2, IDG2, RIEG1, RGS, IGDS2 604229 Peters anomaly 3 +601542 PITX2 Paired-like homeodomain transcription factor-2 ENSG00000164093 PITX2, IDG2, RIEG1, RGS, IGDS2 Autosomal dominant 180550 Ring dermoid of cornea 3 +612026 LARP7 La ribonucleoprotein domain family, member 7 ENSG00000174720 LARP7, PIP7S, ALAZS Autosomal recessive 615071 Alazami syndrome 3 +106410 ANK2 Ankyrin-2, nonerythrocytic ENSG00000145362 ANK2, LQT4 Autosomal dominant 600919 Cardiac arrhythmia, ankyrin-B-related 3 +106410 ANK2 Ankyrin-2, nonerythrocytic ENSG00000145362 ANK2, LQT4 Autosomal dominant 600919 Long QT syndrome 4 3 +606709 PRSS12 Protease, serine, 12 ENSG00000164099 PRSS12, BSSP3, MRT1 Autosomal recessive 249500 Mental retardation, autosomal recessive 1 3 +607186 SEC24D Sec24-related gene family, member D ENSG00000150961 SEC24D, KIAA0755, CLCRP2 Autosomal recessive 616294 Cole-Carpenter syndrome 2 3 +605602 MYOZ2 Myozenin 2 ENSG00000172399 MYOZ2, CMH16 Autosomal dominant 613838 Cardiomyopathy, hypertrophic, 16 3 +611598 Celiac disease, susceptibility to, 6 CELIAC6, AIS5 611598 Autoimmune disease, susceptibility to, 5 2 +611598 Celiac disease, susceptibility to, 6 CELIAC6, AIS5 611598 Celiac disease, susceptibility to, 6 2 +612622 Diabetes mellitus, insulin-dependent, 23 IDDM23 associated with rs6534347 612622 Diabetes mellitus, insulin-dependent, 23 2 +614333 Mental retardation, autosomal recessive 29 MRT29 between rs843571 and rs318539 Autosomal recessive 614333 Mental retardation, autosomal recessive 29 2 +614161 PRDM5 PR domain-containing protein 5 ENSG00000138738 PRDM5, BCS2 Autosomal recessive 614170 Brittle cornea syndrome 2 3 +131230 ANXA5 Annexin A5 (endonexin II) ENSG00000164111 ANXA5, ENX2, RPRGL3 Autosomal dominant 614391 Pregnancy loss, recurrent, susceptibility to, 3 3 +607590 BBS7 BBS7 gene ENSG00000138686 BBS7 Autosomal recessive 615984 Bardet-Biedl syndrome 7 3 +602345 TRPC3 Transient receptor potential cation channel, subfamily C, member 3 ENSG00000138741 TRPC3, TRP3, SCA41 mutation identified in one SCA41 patient Autosomal dominant 616410 ?Spinocerebellar ataxia 41 3 +147680 IL2 Interleukin-2 ENSG00000109471 IL2 Severe combined immunodeficiency due to IL2 deficiency 1 +605384 IL21 Interleukin 21 ENSG00000138684 IL21, CVID11 mutation identified in 1 CVID11 patient Autosomal recessive 615767 ?Immunodeficiency, common variable, 11 3 +610683 BBS12 BBS12 gene ENSG00000181004 BBS12, FLJ35630, C4orf24 1Mb centromeric to BBS Autosomal recessive 615989 Bardet-Biedl syndrome 12 3 +111800 Stoltzfus blood group SF ~25cM from MNSs 111800 Blood group, Stoltzfus system 2 +613940 SPATA5 Spermatogenesis-associated protein 5 ENSG00000145375 SPATA5, SPAF, EHLMRS Autosomal recessive 616577 Epilepsy, hearing loss, and mental retardation syndrome 3 +612411 FAT4 FAT tumor suppressor, Drosophila, homolog of, 4 ENSG00000196159 FAT4, VMLDS2, HKLLS2 Autosomal recessive 616006 Hennekam lymphangiectasia-lymphedema syndrome 2 3 +612411 FAT4 FAT tumor suppressor, Drosophila, homolog of, 4 ENSG00000196159 FAT4, VMLDS2, HKLLS2 Autosomal recessive 615546 Van Maldergem syndrome 2 3 +605031 PLK4 Polo-like kinase 4 (serine/threonine protein kinase-18) ENSG00000142731 PLK4, STK18, SAK, MCCRP2 Autosomal recessive 616171 Microcephaly and chorioretinopathy, autosomal recessive, 2 3 +611124 MFSD8 Major facilitator superfamily domain-containing protein 8 ENSG00000164073 MFSD8, MGC33302, CLN7, CCMD Autosomal recessive 610951 Ceroid lipofuscinosis, neuronal, 7 3 +611124 MFSD8 Major facilitator superfamily domain-containing protein 8 ENSG00000164073 MFSD8, MGC33302, CLN7, CCMD Autosomal recessive 616170 Macular dystrophy with central cone involvement 3 +609782 Aortic aneurysm, familial abdominal 2 AAA2 max lod at D4S1644 609782 Aortic aneurysm, familial abdominal 2 2 +605428 DFNB26 Deafness, autosomal recessive 26 DFNB26 Autosomal recessive 605428 Deafness, autosomal recessive 26 2 +609985 Panic disorder 3 PAND3 609985 Panic disorder 3 2 +607857 PSORS9 Psoriasis susceptibility 9 PSORS9 max lod at D4S1597 607857 Psoraisis susceptibility 9 2 +612224 Stature quantitative trait locus 12 STQTL12 associated with rs6854783 612224 Stature QTL 12 2 +605950 RAB33B Ras-associated protein RAB33B ENSG00000172007 RAB33B, SMC2 Autosomal recessive 615222 Smith-McCort dysplasia 2 3 +113730 UCP1 Uncoupling protein 1 (mitochondrial, proton carrier) ENSG00000109424 UCP1 Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, susceptibility to 3 +111740 GYPB Glycophorin B (includes Ss blood group) ENSG00000250361 GYPB, SS, MNS Blood group, Ss 3 +111740 GYPB Glycophorin B (includes Ss blood group) ENSG00000250361 GYPB, SS, MNS 611162 Malaria, resistance to 3 +111300 GYPA Glycophorin A (includes MN blood group) ENSG00000170180 GYPA, MN, GPA male lod = 3.79 at theta 0.32 vs. GC Blood group, MN 3 +111300 GYPA Glycophorin A (includes MN blood group) ENSG00000170180 GYPA, MN, GPA male lod = 3.79 at theta 0.32 vs. GC 611162 Malaria, resistance to 3 +607481 MMAA MMAA gene ENSG00000151611 MMAA Autosomal recessive 251100 Methylmalonic aciduria, vitamin B12-responsive 3 +131243 EDNRA Endothelin receptor type A ENSG00000151617 EDNRA, MFDA Autosomal dominant 616367 Mandibulofacial dysostosis with alopecia 3 +131243 EDNRA Endothelin receptor type A ENSG00000151617 EDNRA, MFDA Autosomal dominant 157300 Migraine, resistance to 3 +600983 NR3C2 Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor) ENSG00000151623 NR3C2, MLR, MCR 605115 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 3 +600983 NR3C2 Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor) ENSG00000151623 NR3C2, MLR, MCR Autosomal dominant 177735 Pseudohypoaldosteronism type I, autosomal dominant 3 +611644 Hirschsprung disease, susceptibility to, 9 HSCR9 between D4S3049 and D4S1566 611644 Hirschsprung disease, susceptibility to, 9 2 +606453 LRBA Lipopolysaccharide-responsive, beige-like anchor protein ENSG00000198589 LRBA, LBA, CDC4L, CVID8 Autosomal recessive 614700 Immunodeficiency, common variable, 8, with autoimmunity 3 +604357 MAB21L2 MAB21, C. elegans, homolog-like 2 ENSG00000181541 MAB21L2, MCOPS14 Autosomal recessive, Autosomal dominant 615877 Microphthalmia, syndromic 14 3 +614141 TRIM2 Tripartite motif-containing protein 2 ENSG00000109654 TRIM2, KIAA0517, CMT2R Autosomal recessive 615490 Charcot-Marie-Tooth disease, type 2R 3 +603028 TLR2 Toll-like receptor-2 ENSG00000137462 TLR2, TIL4 Autosomal dominant 114500 Colorectal cancer, susceptibility to 3 +603028 TLR2 Toll-like receptor-2 ENSG00000137462 TLR2, TIL4 Autosomal dominant 246300 Leprosy, susceptibility to 3 +603028 TLR2 Toll-like receptor-2 ENSG00000137462 TLR2, TIL4 607948 Mycobacterium tuberculosis, susceptibility to 3 +134830 FGB Fibrinogen, beta polypeptide ENSG00000171564 FGB 4q31 by A; proximal to GYPB/GYPA Autosomal recessive 202400 Afibrinogenemia, congenital 3 +134830 FGB Fibrinogen, beta polypeptide ENSG00000171564 FGB 4q31 by A; proximal to GYPB/GYPA 616004 Dysfibrinogenemia, congenital 3 +134830 FGB Fibrinogen, beta polypeptide ENSG00000171564 FGB 4q31 by A; proximal to GYPB/GYPA Autosomal recessive 202400 Hypofibrinogenemia, congenital 3 +134820 FGA Fibrinogen, alpha polypeptide ENSG00000171560 FGA Autosomal recessive 202400 Afibrinogenemia, congenital 3 +134820 FGA Fibrinogen, alpha polypeptide ENSG00000171560 FGA Autosomal dominant 105200 Amyloidosis, familial visceral 3 +134820 FGA Fibrinogen, alpha polypeptide ENSG00000171560 FGA 616004 Dysfibrinogenemia, congenital 3 +134820 FGA Fibrinogen, alpha polypeptide ENSG00000171560 FGA 616004 Hypodysfibrinogenemia, congenital 3 +612165 RP29 Retinitis pigmentosa 29 RP29 maximum lod at D4S415 Autosomal recessive 612165 Retinitis pigmentosa 29 2 +613603 Chromosome 4q32.1-q32.2 triplication syndrome TRIP4q32.1q32.2, C4TRIPq32.1q32.2 Autosomal dominant 613603 Chromosome 4q32.1-q32.2 triplication syndrome 4 +134850 FGG Fibrinogen, gamma polypeptide ENSG00000171557 FGG linked to MN Autosomal recessive 202400 Afibrinogenemia, congenital 3 +134850 FGG Fibrinogen, gamma polypeptide ENSG00000171557 FGG linked to MN 616004 Dysfibrinogenemia, congenital 3 +134850 FGG Fibrinogen, gamma polypeptide ENSG00000171557 FGG linked to MN 616004 Hypodysfibrinogenemia 3 +134850 FGG Fibrinogen, gamma polypeptide ENSG00000171557 FGG linked to MN Autosomal recessive 202400 Hypofibrinogenemia, congenital 3 +604863 LRAT Lecithin retinol acyltransferase ENSG00000121207 LRAT, LCA14 Autosomal recessive 613341 Leber congenital amaurosis 14 3 +604863 LRAT Lecithin retinol acyltransferase ENSG00000121207 LRAT, LCA14 Autosomal recessive 613341 Retinal dystrophy, early-onset severe 3 +604863 LRAT Lecithin retinol acyltransferase ENSG00000121207 LRAT, LCA14 Autosomal recessive 613341 Retinitis pigmentosa, juvenile 3 +139396 GUCY1A3 Guanylate cyclase 1, soluble, alpha 3 ENSG00000164116 GUCY1A3, GUC1A3, GUCSA3, MYMY6 Autosomal recessive 615750 Moyamoya 6 with achalasia 3 +138492 GLRB Glycine receptor, beta subunit ENSG00000109738 GLRB, HKPX2 614619 Hyperekplexia 2, autosomal recessive 3 +231675 ETFDH Electron transfer flavoprotein:ubiquinone oxidoreductase ENSG00000171503 ETFDH, MADD Autosomal recessive 231680 Glutaric acidemia IIC 3 +611109 Cinnamon odor, pleasantness of CINN max lod at AFM295YES 611109 Cinnamon odor, pleasantness of 2 +610239 High density lipoprotein cholesterol level QTL 4 HDLCQ4 between D4S1597 and D4S1539 610239 High density lipoprotein cholesterol level QTL 4 2 +607545 MSMO1 Methylsterol monooxygenase 1 ENSG00000052802 MSMO1, SC4MOL, ERG25, MCCPD Autosomal recessive 616834 Microcephaly, congenital cataract, and psoriasiform dermatitis 3 +606742 TLL1 Tolloid-like 1 ENSG00000038295 TLL1, TLL, ASD6 Autosomal dominant 613087 Atrial septal defect 6 3 +608092 PALLD Palladin, mouse, homolog of ENSG00000129116 PALLD, KIAA0992, PNCA1 606856 Pancreatic cancer, susceptibility to, 1 3 +607258 Hypercalciuria, absorptive, 1 HCA1 607258 Hypercalciuria, absorptive 2 +604588 NEK1 Never in mitosis gene A-related kinase 1 ENSG00000137601 NEK1, SRTD6, SRPS2A 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Autosomal recessive, Digenic recessive 263520 Short-rib thoracic dysplasia 6 with or without polydactyly 3 +601688 HPGD Hydroxyprostaglandin dehydrogenase 15-(NAD) ENSG00000164120 HPGD, PGDH1, PHOAR1 Autosomal recessive 259100 Cranioosteoarthropathy 3 +601688 HPGD Hydroxyprostaglandin dehydrogenase 15-(NAD) ENSG00000164120 HPGD, PGDH1, PHOAR1 Autosomal dominant 119900 Digital clubbing, isolated congenital 3 +601688 HPGD Hydroxyprostaglandin dehydrogenase 15-(NAD) ENSG00000164120 HPGD, PGDH1, PHOAR1 Autosomal recessive 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 3 +600361 Hereditary motor and sensory neuropathy V HMSN5 D4S1552 and D4S2930 Autosomal dominant 600361 Hereditary motor and sensory neuropathy V 2 +613371 SCA30 Spinocerebellar ataxia 30 SCA30 between rs1397413 and rs2175476; max lod 3.0 Autosomal dominant 613371 ?Spinocerebellar ataxia 30 2 +601528 VEGFC Vascular endothelial growth factor C ENSG00000150630 VEGFC, VRP, LMPH1D Autosomal dominant 615907 Lymphedema, hereditary, ID 3 +613228 AGA Aspartylglucosaminidase ENSG00000038002 AGA Autosomal recessive 208400 Aspartylglucosaminuria 3 +610083 TENM3 Teneurin transmembrane protein 3 ENSG00000218336 TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9 Autosomal recessive 615145 Microphthalmia, isolated, with coloboma 9 3 +606282 DFNA24 Deafness, autosomal dominant 24 DFNA24 Autosomal dominant 606282 Deafness, autosomal dominant 24 2 +127600 Dyskeratosis, hereditary benign intraepithelial DKBI Autosomal dominant 127600 Dyskeratosis, hereditary benign intraepithelial 2 +158900 Facioscapulohumeral muscular dystrophy 1 FSHD1, FSHD1A due to D4Z4 macrosatellite repeat on 4q35 Autosomal dominant 158900 Facioscapulohumeral muscular dystrophy 1 4 +614138 TRAPPC11 Trafficking protein particle complex, subunit 11 ENSG00000168538 TRAPPC11, C4orf41, LGMD2S Autosomal recessive 615356 Muscular dystrophy, limb-girdle, type 2S 3 +615421 PRIMPOL Coiled-coil domain containing 111 ENSG00000164306 CCDC111, MYP22 Autosomal dominant 615420 Myopia 22, autosomal dominant 3 +103220 SLC25A4 Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle) ENSG00000151729 SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12, PEOA2 Autosomal recessive 615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) 3 +103220 SLC25A4 Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle) ENSG00000151729 SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12, PEOA2 Autosomal dominant 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 3 +611482 UFSP2 UFM1-specific protease 2 ENSG00000109775 UFSP2, C4orf20, BHD mutation identified in 1 BHD family Autosomal dominant 142669 ?Hip dysplasia, Beukes type 3 +603029 TLR3 Toll-like receptor-3 ENSG00000164342 TLR3, IIAE2 609423 HIV1 infection, resistance to 3 +603029 TLR3 Toll-like receptor-3 ENSG00000164342 TLR3, IIAE2 613002 Herpes simplex encephalitis, susceptibility to, 2 3 +608614 CYP4V2 Cytochrome P450, family 4, subfamily V, polypeptide 2 ENSG00000145476 CYP4V2, BCD Autosomal recessive 210370 Bietti crystalline corneoretinal dystrophy 3 +229000 KLKB1 Kallikrein B plasma 1 (Fletcher factor) ENSG00000164344 KLKB1, KLK3, PKKD similar to F11 Autosomal recessive 612423 Fletcher factor (prekallikrein) deficiency 3 +264900 F11 Coagulation factor XI (plasma thromboplastin antecedent) ENSG00000088926 F11 not closely linked to MNS 612416 Factor XI deficiency, autosomal dominant 3 +264900 F11 Coagulation factor XI (plasma thromboplastin antecedent) ENSG00000088926 F11 not closely linked to MNS 612416 Factor XI deficiency, autosomal recessive 3 +151450 Leukocyte antigen group 5 LAG5 Neutropenia, neonatal alloimmune 1 +108800 ASD1 Atrial septal defect 1 ASD1 max lod at D5S406 Autosomal dominant 108800 Atrial septal defect 1 2 +613059 Basal cell carcinoma, susceptibility to, 3 BCC3 613059 Basal cell carcinoma, susceptibility to, 3 2 +613033 Glioma susceptibility 8 GLM8 associated with rs2736100 613033 Glioma susceptibility 8 2 +612571 Lung cancer susceptibility 3 LNCR3 associated with rs402710 and rs2736100 612571 Lung cancer susceptibility 3 2 +608850 MCDR3 Macular dystrophy, retinal, 3 MCDR3 maximum lod at D5S630 Autosomal dominant 608850 Macular dystrophy, retinal, 3 2 +601888 MHS6 Malignant hyperthermia susceptibility 6 MHS6 601888 Malignant hyperthermia susceptibility 6 2 +612554 MYP16 Myopia 16 MYP16 max lod at D5S2505 612554 Myopia 16 2 +613637 Tuberculin skin test reactivity quantitative trait locus TST2 max lod at 16:2.70Mb 613637 Tuberculin skin test reactivity QTL 2 +600857 SDHA Succinate dehydrogenase complex, subunit A, flavoprotein ENSG00000073578 SDHA, SDH1, SDHF, CMD1GG, PGL5 copy on 3q29 613642 Cardiomyopathy, dilated, 1GG 3 +600857 SDHA Succinate dehydrogenase complex, subunit A, flavoprotein ENSG00000073578 SDHA, SDH1, SDHF, CMD1GG, PGL5 copy on 3q29 Autosomal recessive, Mitochondrial 256000 Leigh syndrome 3 +600857 SDHA Succinate dehydrogenase complex, subunit A, flavoprotein ENSG00000073578 SDHA, SDH1, SDHF, CMD1GG, PGL5 copy on 3q29 Autosomal recessive 252011 Mitochondrial respiratory chain complex II deficiency 3 +600857 SDHA Succinate dehydrogenase complex, subunit A, flavoprotein ENSG00000073578 SDHA, SDH1, SDHF, CMD1GG, PGL5 copy on 3q29 Autosomal dominant 614165 Paragangliomas 5 3 +182307 SLC9A3 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 ENSG00000281861 SLC9A3, NHE3, DIAR8 pseudogene on chr.10 Autosomal recessive 616868 Diarrhea 8, secretory sodium, congenital 3 +608893 SLC6A19 Solute carrier family 6 (neurotransmitter transporter), member 19 ENSG00000174358 SLC6A19, HND Autosomal recessive 234500 Hartnup disorder 3 +608893 SLC6A19 Solute carrier family 6 (neurotransmitter transporter), member 19 ENSG00000174358 SLC6A19, HND Autosomal dominant 138500 Hyperglycinuria 3 +608893 SLC6A19 Solute carrier family 6 (neurotransmitter transporter), member 19 ENSG00000174358 SLC6A19, HND Autosomal recessive 242600 Iminoglycinuria, digenic 3 +187270 TERT Telomerase reverse transcriptase ENSG00000164362 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 deleted in cri du chat Autosomal recessive, Autosomal dominant 613989 Dyskeratosis congenita, autosomal dominant 2 3 +187270 TERT Telomerase reverse transcriptase ENSG00000164362 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 deleted in cri du chat Autosomal recessive, Autosomal dominant 613989 Dyskeratosis congenita, autosomal recessive 4 3 +187270 TERT Telomerase reverse transcriptase ENSG00000164362 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 deleted in cri du chat Autosomal dominant 601626 Leukemia, acute myeloid 3 +187270 TERT Telomerase reverse transcriptase ENSG00000164362 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 deleted in cri du chat 615134 Melanoma, cutaneous malignant, 9 3 +187270 TERT Telomerase reverse transcriptase ENSG00000164362 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 deleted in cri du chat Autosomal dominant 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 3 +126455 SLC6A3 Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ENSG00000142319 SLC6A3, DAT1, PKDYS 188890 Nicotine dependence, protection against 3 +126455 SLC6A3 Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ENSG00000142319 SLC6A3, DAT1, PKDYS Autosomal recessive 613135 Parkinsonism-dystonia, infantile 3 +603848 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kD ENSG00000145494 NDUFS6 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +613608 Epilepsy, myoclonic, familial adult, 3 FAME3, FCMTE3 between D5S580 and D5S2096 Autosomal dominant 613608 Epilepsy, myoclonic, familial adult, 3 2 +610916 NSUN2 NOL1/NOP2/SUN domain family, member 2 ENSG00000037474 NSUN2, TRM4, SAKI, MISU, MRT5 Autosomal recessive 611091 Mental retardation, autosomal recessive 5 3 +602568 MTRR Methionine synthase reductase ENSG00000124275 MTRR Autosomal recessive 236270 Homocystinuria-megaloblastic anemia, cbl E type 3 +602568 MTRR Methionine synthase reductase ENSG00000124275 MTRR Autosomal recessive 601634 Neural tube defects, folate-sensitive, susceptibility to 3 +606770 Adiponectin, serum level of, QTL 2 ADIPQTL2, CAQ5 near D5S817 606770 Adiponectin, serum level of, QTL2 2 +610213 ANIB4 Aneurysm, intracranial berry, 4 ANIB4 max lod at D5S1954 610213 Aneurysm, intracranial berry, 4 2 +610150 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) ENSG00000150753 CCT5, KIAA0098, CCTE Autosomal recessive 256840 Neuropathy, hereditary sensory, with spastic paraplegia 3 +603335 DNAH5 Dynein, axonemal, heavy chain 5 ENSG00000039139 DNAH5, HL1, PCD, CILD3 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus 3 +601893 TRIO Triple functional domain ENSG00000038382 TRIO, MRD44 Autosomal dominant 617061 Mental retardation, autosomal dominant 44 3 +615712 OTULIN OTU deubiquitinase with linear linkage specificity ENSG00000154124 OTULIN, FAM105B, GUM, AIPDS Autosomal recessive 617099 Autoinflammation, panniculitis, and dermatosis syndrome 3 +605145 ANKH Ank, mouse, homolog of ENSG00000154122 ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD Autosomal dominant 118600 Chondrocalcinosis 2 3 +605145 ANKH Ank, mouse, homolog of ENSG00000154122 ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD Autosomal dominant 123000 Craniometaphyseal dysplasia 3 +613969 Myopia 19, autosomal dominant MYP19 highest lod at D5S419 Autosomal dominant 613969 Myopia 19 2 +608098 Periventricular nodular heterotopia 3 PVNH3 608098 Periventricular nodular heterotopia 3 2 +613114 FAM134B Family with sequence similarity 134, member B ENSG00000154153 FAM134B, HSAN2B Autosomal recessive 613115 Neuropathy, hereditary sensory and autonomic, type IIB 3 +608906 Attention deficit-hyperactivity disorder, susceptibility to, 4 ADHD4 Autosomal dominant 143465 Attention deficit-hyperactivity disorder 2 +607004 Brachydactyly, type A1, locus B BDA1B Autosomal dominant 607004 Brachydactyly, type A1, B 2 +613174 Chromosome 5p13 duplication syndrome DUP5p13, C5DUPp13 Isolated cases 613174 Chromosome 5p13 duplication syndrome 4 +610262 Hypertension, essential, susceptibility to, 6 HYT6 Multifactorial 145500 Hypertension, essential, susceptibility to, 6 2 +610170 Kyphoscoliosis 1 KYPSC1 610170 Kyphoscoliosis 1 2 +108962 NPR3 Natriuretic peptide receptor C ENSG00000113389 NPR3, ANPRC ?Hypertension, salt-resistant 1 +612595 Multiple sclerosis, susceptibility to, 3 MS3 associated with rs6897932 612595 Multiple sclerosis, susceptibility to, 3 2 +606202 SLC45A2 Solute carrier family 45, member 2 ENSG00000281919 SLC45A2, MATP, AIM1, SHEP5, OCA4 606574 Albinism, oculocutaneous, type IV 3 +606202 SLC45A2 Solute carrier family 45, member 2 ENSG00000281919 SLC45A2, MATP, AIM1, SHEP5, OCA4 Autosomal recessive 227240 Skin/hair/eye pigmentation 5, black/nonblack hair 3 +606202 SLC45A2 Solute carrier family 45, member 2 ENSG00000281919 SLC45A2, MATP, AIM1, SHEP5, OCA4 Autosomal recessive 227240 Skin/hair/eye pigmentation 5, dark/fair skin 3 +606202 SLC45A2 Solute carrier family 45, member 2 ENSG00000281919 SLC45A2, MATP, AIM1, SHEP5, OCA4 Autosomal recessive 227240 Skin/hair/eye pigmentation 5, dark/light eyes 3 +604489 AMACR Alpha-methylacyl-CoA racemase ENSG00000242110 AMACR, CBAS4, AMACRD Autosomal recessive 614307 Alpha-methylacyl-CoA racemase deficiency 3 +604489 AMACR Alpha-methylacyl-CoA racemase ENSG00000242110 AMACR, CBAS4, AMACRD Autosomal recessive 214950 Bile acid synthesis defect, congenital, 4 3 +617048 DNAJC21 DNAJ/HSP40 homolog, subfamily C, member 21 ENSG00000168724 DNAJC21, DNAJA5, BMFS3 Autosomal recessive 617052 Bone marrow failure syndrome 3 3 +176761 PRLR Prolactin receptor ENSG00000113494 PRLR, MFAB, HPRL mutation identified in 1 family with HPRL Autosomal dominant 615555 ?Hyperprolactinemia 3 +176761 PRLR Prolactin receptor ENSG00000113494 PRLR, MFAB, HPRL mutation identified in 1 family with HPRL Autosomal dominant 615554 Multiple fibroadenomas of the breast 3 +146661 IL7R Interleukin-7 receptor ENSG00000168685 IL7R, IL7RA, CD127 Autosomal recessive 608971 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 3 +615787 NADK2 NAD kinase 2, mitochondrial ENSG00000152620 NADK2, C5orf33, DECRD mutation identified in 1 DECRD family Autosomal recessive 616034 ?2,4-dienoyl-CoA reductase deficiency 3 +600111 SLC1A3 Solute carrier family 1 (glial high affinity glutamate transporter), member 3 ENSG00000079215 SLC1A3, EAAT1, EA6 612656 Episodic ataxia, type 6 3 +608667 NIPBL Nipped-B-like (delangin) ENSG00000164190 NIPBL, CDLS1 Autosomal dominant 122470 Cornelia de Lange syndrome 1 3 +614571 C5orf42 Chromosome 5 open reading frame 42 ENSG00000197603 C5orf42, JBTS17, OFD6 Autosomal recessive 614615 Joubert syndrome 17 3 +614571 C5orf42 Chromosome 5 open reading frame 42 ENSG00000197603 C5orf42, JBTS17, OFD6 Autosomal recessive 277170 Orofaciodigital syndrome VI 3 +606694 NUP155 Nucleoporin, 155kD ENSG00000113569 NUP155, KIAA0791, ATFB15 mutation identified in 1 ATFB15 family Autosomal recessive 615770 ?Atrial fibrillation 15 3 +600837 GDNF Glial cell line derived neurotrophic factor ENSG00000168621 GDNF, HSCR3 Autosomal dominant 209880 Central hypoventilation syndrome 3 +600837 GDNF Glial cell line derived neurotrophic factor ENSG00000168621 GDNF, HSCR3 613711 Hirschsprung disease, susceptibility to, 3 3 +600837 GDNF Glial cell line derived neurotrophic factor ENSG00000168621 GDNF, HSCR3 Autosomal dominant 171300 Pheochromocytoma, modifier of 3 +612262 Inflammatory bowel disease 18 IBD18 associated with rs1373692 612262 Inflammatory bowel disease 18 2 +151443 LIFR Leukemia inhibitory factor receptor ENSG00000113594 LIFR, STWS, SWS, SJS2 Autosomal recessive 601559 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 3 +601743 OSMR Oncostatin M receptor ENSG00000145623 OSMR, OSMRB, PLCA1 Autosomal dominant 105250 Amyloidosis, primary localized cutaneous, 1 3 +120940 C9 Complement component-9 ENSG00000113600 C9, C9D, ARMD15 613825 C9 deficiency 3 +120940 C9 Complement component-9 ENSG00000113600 C9, C9D, ARMD15 615591 Macular degeneration, age-related, 15, susceptibility to 3 +217070 C7 Complement component-7 ENSG00000112936 C7 610102 C7 deficiency 3 +217050 C6 Complement component-6 ENSG00000039537 C6 612446 C6 deficiency 3 +217050 C6 Complement component-6 ENSG00000039537 C6 Combined C6/C7 deficiency 3 +601424 OXCT1 3-oxoacid CoA transferase 1 ENSG00000083720 OXCT1, OXCT, SCOT 245050 Succinyl CoA:3-oxoacid CoA transferase deficiency 3 +600946 GHR Growth hormone receptor ENSG00000112964 GHR, GHIP 604271 Growth hormone insensitivity, partial 3 +600946 GHR Growth hormone receptor ENSG00000112964 GHR, GHIP Autosomal dominant 143890 Hypercholesterolemia, familial, modifier of 3 +600946 GHR Growth hormone receptor ENSG00000112964 GHR, GHIP Increased responsiveness to growth hormone 3 +600946 GHR Growth hormone receptor ENSG00000112964 GHR, GHIP Autosomal recessive 262500 Laron dwarfism 3 +607878 NNT Nicotinamide nucleotide transhydrogenase ENSG00000112992 NNT, GCCD4 Autosomal recessive 614736 Glucocorticoid deficiency 4 3 +602115 FGF10 Fibroblast growth factor-10 ENSG00000070193 FGF10 Autosomal dominant 180920 Aplasia of lacrimal and salivary glands 3 +602115 FGF10 Fibroblast growth factor-10 ENSG00000070193 FGF10 Autosomal dominant 149730 LADD syndrome 3 +602780 HCN1 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ENSG00000164588 HCN1, BCNG1, EIEE24 Autosomal dominant 615871 Epileptic encephalopathy, early infantile, 24 3 +609657 Bone size quantitative trait locus 2 BSZQTL2 609657 Bone size QTL 2 +192974 ITGA2 Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet antigen Br) ENSG00000164171 ITGA2, CD49B, BR, BDPLT9 Autosomal dominant 614200 ?Glycoprotein Ia deficiency 1 +603708 MOCS2 Molybdenum cofactor synthesis-2 ENSG00000164172 MOCS2, MPTS, MOCODB Autosomal recessive 252160 Molybdenum cofactor deficiency B 3 +602694 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q reductase) ENSG00000164258 NDUFS4, AQDQ Autosomal recessive, Mitochondrial 256000 Leigh syndrome 3 +602694 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q reductase) ENSG00000164258 NDUFS4, AQDQ Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +604624 HSPB3 Heat-shock 27kD protein 3 ENSG00000169271 HSPB3, HSPL27, HMN2C, DHMN2C mutation identified in 1 HMN2C family Autosomal dominant 613376 ?Neuronopathy, distal hereditary motor, type IIC 3 +607752 CCNO Cyclin O ENSG00000152669 CCNO, UNG2, CILD29 Autosomal recessive 615872 Ciliary dyskinesia, primary, 29 3 +609510 IL31RA Interleukin 31 receptor A ENSG00000164509 IL31RA, GLMR, GPL, PLCA2 Autosomal dominant 613955 Amyloidosis, primary localized cutaneous, 2 3 +600982 MAP3K1 Mitogen-activated protein kinase kinase kinase 1 ENSG00000095015 MAP3K1, MEKK1, MEKK, SRXY6 Autosomal dominant 613762 46XY sex reversal 6 3 +600129 PDE4D Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3) ENSG00000113448 PDE4D, DPDE3, STRK1, ACRDYS2 Autosomal dominant 614613 Acrodysostosis 2, with or without hormone resistance 3 +600129 PDE4D Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3) ENSG00000113448 PDE4D, DPDE3, STRK1, ACRDYS2 606799 Stroke, susceptibility to, 1 3 +615668 Chromosome 5q12 deletion syndrome DEL5q12, C5DELq12 Autosomal dominant 615668 Chromosome 5q12 deletion syndrome 4 +611364 Myoclonic epilepsy, juvenile, 4 EJM4 max lod at D5S459 Autosomal dominant 611364 Myoclonic epilepsy, juvenile, 4 2 +609412 ERCC8 Excision repair cross-complementing rodent repair deficiency, complementation group 8 ENSG00000049167 ERCC8, CKN1, CSA, UVSS2 Autosomal recessive 216400 Cockayne syndrome, type A 3 +609412 ERCC8 Excision repair cross-complementing rodent repair deficiency, complementation group 8 ENSG00000049167 ERCC8, CKN1, CSA, UVSS2 Autosomal recessive 614621 UV-sensitive syndrome 2 3 +609653 NDUFAF2 NADH dehydrogenase 1 alpha subcomplex, assembly factor 2 ENSG00000164182 NDUFAF2, NDUFA12L, MMTN, B17.2L pseudogene on chr.2 Autosomal recessive, Mitochondrial 256000 Leigh syndrome 3 +609653 NDUFAF2 NADH dehydrogenase 1 alpha subcomplex, assembly factor 2 ENSG00000164182 NDUFAF2, NDUFA12L, MMTN, B17.2L pseudogene on chr.2 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +615951 ZSWIM6 Zinc finger SWIM domain-containing protein 6 ENSG00000130449 ZSWIM6, KIAA1577, AFND Autosomal dominant 603671 Acromelic frontonasal dysostosis 3 +602591 KIF2A Kinesin, heavy chain, 2 ENSG00000068796 KIF2A, CDCBM3 Autosomal dominant 615411 Cortical dysplasia, complex, with other brain malformations 3 3 +109760 HTR1A 5-hydroxytryptamine (serotonin) receptor-1A ENSG00000178394 HTR1A, ADRB2RL1, PFMCD Autosomal dominant 614674 Periodic fever, menstrual cycle dependent 3 +607087 Aortic aneurysm, familial thoracic 2 AAT2, FAA2 607087 Aortic aneurysm, familial thoracic 2 2 +605544 GINGF2 Fibromatosis, gingival, 2 GINGF2, GGF2, HGF2 formerly GINGF2 used for a locus on 2p16-p13 605544 Fibromatosis, gingival, 2 2 +612306 Thyroid-stimulating hormone level QTL 1 TSHQTL1 associated with rs4704397 612306 Thyroid-stimulating hormone level QTL 1 2 +171833 PIK3R1 Phosphatidylinositol 3-kinase, regulatory, 1 ENSG00000145675 PIK3R1, GRB1, AGM7, SHORT, IMD36 mutation identified in 1 AGM7 family Autosomal recessive 615214 ?Agammaglobulinemia 7, autosomal recessive 3 +171833 PIK3R1 Phosphatidylinositol 3-kinase, regulatory, 1 ENSG00000145675 PIK3R1, GRB1, AGM7, SHORT, IMD36 mutation identified in 1 AGM7 family Autosomal dominant 616005 Immunodeficiency 36 3 +171833 PIK3R1 Phosphatidylinositol 3-kinase, regulatory, 1 ENSG00000145675 PIK3R1, GRB1, AGM7, SHORT, IMD36 mutation identified in 1 AGM7 family Autosomal dominant 269880 SHORT syndrome 3 +610572 MARVELD2 Marvel domain-containing protein 2 (tricellulin) ENSG00000152939 MARVELD2, MARVD2, TRIC, DFNB49 Autosomal recessive 610153 Deafness, autosomal recessive 49 3 +602876 OCLN Occludin ENSG00000273814 OCLN, BLCPMG Autosomal recessive 251290 Band-like calcification with simplified gyration and polymicrogyria 3 +601627 SMN2 Survival of motor neuron 2, centromeric ENSG00000205571 SMN2 Autosomal recessive 253400 Spinal muscular atrophy, type III, modifier of 3 +600354 SMN1 Survival of motor neuron 1, telomeric ENSG00000205571 SMN1, SMA1, SMA2, SMA3, SMA4 Autosomal recessive 253300 Spinal muscular atrophy-1 3 +600354 SMN1 Survival of motor neuron 1, telomeric ENSG00000205571 SMN1, SMA1, SMA2, SMA3, SMA4 Autosomal recessive 253550 Spinal muscular atrophy-2 3 +600354 SMN1 Survival of motor neuron 1, telomeric ENSG00000205571 SMN1, SMA1, SMA2, SMA3, SMA4 Autosomal recessive 253400 Spinal muscular atrophy-3 3 +600354 SMN1 Survival of motor neuron 1, telomeric ENSG00000205571 SMN1, SMA1, SMA2, SMA3, SMA4 Autosomal recessive 271150 Spinal muscular atrophy-4 3 +609014 MCCC2 3-Methylcrotonyl-CoA carboxylase 2 ENSG00000131844 MCCC2, MCCB Autosomal recessive 210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3 +602606 CARTPT Cocaine- and amphetamine-regulated transcript prepropeptide ENSG00000164326 CARTPT, CART mutation identified in 1 family Autosomal recessive, Autosomal dominant, Multifactorial 601665 ?Obesity, susceptibility to 3 +606873 HEXB Hexosaminidase B, beta polypeptide ENSG00000049860 HEXB Autosomal recessive 268800 Sandhoff disease, infantile, juvenile, and adult forms 3 +142910 HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase ENSG00000113161 HMGCR, LDLCQ3 Low density lipoprotein cholesterol level QTL 3 3 +142910 HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase ENSG00000113161 HMGCR, LDLCQ3 Statins, attenuated cholesterol lowering by 3 +604677 COL4A3BP COL4A3-binding protein (ceramide transporter) ENSG00000113163 COL4A3BP, GPBP, CERT, MRD34 616351 Mental retardation, autosomal dominant 34 3 +603390 PDE8B Phosphodiesterase 8B ENSG00000113231 PDE8B, PPNAD3, ADSD 614190 Pigmented nodular adrenocortical disease, primary, 3 3 +603390 PDE8B Phosphodiesterase 8B ENSG00000113231 PDE8B, PPNAD3, ADSD Autosomal dominant 609161 Striatal degeneration, autosomal dominant 3 +187260 TELAB1 Telangiectasia, hereditary benign HBT max lod at D5S641 Autosomal dominant 187260 Telangiectasia, hereditary benign 2 +614622 Keratoconus 5 KTCN5 between D5S2499 and D5S495 Autosomal dominant 614622 Keratoconus 5 2 +603401 AP3B1 Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a) ENSG00000132842 AP3B1, ADTB3A, HPS2 Autosomal recessive 608233 Hermansky-Pudlak syndrome 2 3 +611542 ARSB Arylsulfatase B ENSG00000113273 ARSB, MPS6 Autosomal recessive 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 3 +605849 DMGDH Dimethylglycine dehydrogenase ENSG00000132837 DMGDH, DMGDHD Autosomal recessive 605850 Dimethylglycine dehydrogenase deficiency 3 +126060 DHFR Dihydrofolate reductase ENSG00000228716 DHFR Autosomal recessive 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency 3 +600887 MSH3 mutS, E. coli, homolog of, 3 ENSG00000113318 MSH3, FAP4 5' to DHFR 608089 Endometrial carcinoma, somatic 3 +600887 MSH3 mutS, E. coli, homolog of, 3 ENSG00000113318 MSH3, FAP4 5' to DHFR Autosomal recessive 617100 Familial adenomatous polyposis 4 3 +614317 Vesicoureteral reflux 4 VUR4 closest marker rs1501656 614317 Vesicoureteral reflux 4 2 +194363 XRCC4 X-ray repair, complementing defective, repair in Chinese hamster cells-4 ENSG00000152422 XRCC4, SSMED between D5S427 and D5S401 Autosomal recessive 616541 Short stature, microcephaly, and endocrine dysfunction 3 +118661 VCAN Versican (chondroitin sulfate proteoglycan-2) ENSG00000038427 VCAN, CSPG2, WGN, WGN1, ERVR Autosomal dominant 143200 Wagner syndrome 1 3 +612881 Periventricular nodular heterotopia 5 PVNH5 deletion range 6.3-17Mb, common range 5.8Mb 612881 Periventricular nodular heterotopia 5 4 +139150 RASA1 RAS p21 protein activator 1 (GTPase activating protein) ENSG00000145715 RASA1, GAP, CMAVM, PKWS 605462 Basal cell carcinoma, somatic 3 +139150 RASA1 RAS p21 protein activator 1 (GTPase activating protein) ENSG00000145715 RASA1, GAP, CMAVM, PKWS Autosomal dominant 608354 Capillary malformation-arteriovenous malformation 3 +139150 RASA1 RAS p21 protein activator 1 (GTPase activating protein) ENSG00000145715 RASA1, GAP, CMAVM, PKWS 608355 Parkes Weber syndrome 3 +600662 MEF2C MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) ENSG00000081189 MEF2C, C5DELq14.3, DEL5q14.3 Autosomal dominant 613443 Chromosome 5q14.3 deletion syndrome 4 +600662 MEF2C MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) ENSG00000081189 MEF2C, C5DELq14.3, DEL5q14.3 Autosomal dominant 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 3 +602851 ADGRV1 Adhesion G protein-coupled receptor V1 ENSG00000164199 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C mutation identified in 1 FEB4 family Autosomal dominant 604352 ?Febrile seizures, familial, 4 3 +602851 ADGRV1 Adhesion G protein-coupled receptor V1 ENSG00000164199 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C mutation identified in 1 FEB4 family Autosomal recessive, Digenic dominant 605472 Usher syndrome, type 2C 3 +602851 ADGRV1 Adhesion G protein-coupled receptor V1 ENSG00000164199 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C mutation identified in 1 FEB4 family Autosomal recessive, Digenic dominant 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic 3 +132890 NR2F1 Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1) ENSG00000175745 NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS Autosomal dominant 615722 Bosch-Boonstra-Schaaf optic atrophy syndrome 3 +614589 TTC37 Tetratricopeptide repeat domain 37 ENSG00000198677 TTC37, KIAA0372 Autosomal recessive 222470 Trichohepatoenteric syndrome 1 3 +162150 PCSK1 Proprotein convertase subtilisin/kexin type 1 ENSG00000175426 PCSK1, NEC1, PC1, PC3, BMIQ12 Isolated cases 600955 Obesity with impaired prohormone processing 3 +162150 PCSK1 Proprotein convertase subtilisin/kexin type 1 ENSG00000175426 PCSK1, NEC1, PC1, PC3, BMIQ12 612362 Obesity, susceptibility to, BMIQ12 3 +114090 CAST Calpastatin ENSG00000153113 CAST, PLACK Autosomal recessive 616295 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 3 +609570 Migraine, susceptibility to, 8 MGR8 609570 Migraine, susceptibility to, 8 2 +608970 Macular dystrophy, butterfly-shaped pigmentary, 2 MDBS2 between D5S433 and D5S410 Autosomal dominant 608970 Macular dystrophy, butterfly-shaped pigmentary, 2 2 +613412 Esophagitis, eosinophilic, 2 EOE2 association with rs3806932 Multifactorial 613412 Esophagitis, eosinophilic, 2 2 +610535 GLC1M Glaucoma 1, open angle, M GLC1M between D5S2051 and D5S2090 Autosomal dominant 610535 Glaucoma 1, open angle, M 2 +610826 SLC25A46 Solute carrier family 25, member 46 ENSG00000164209 SLC25A46, HMSN6B Autosomal recessive 616505 Neuropathy, hereditary motor and sensory, type VIB 3 +609669 WDR36 WD repeat-containing protein 36 ENSG00000134987 WDR36, TAWDRP, GLC1G 609887 Glaucoma 1, open angle, G 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC Adenoma, periampullary, somatic 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC Autosomal dominant 175100 Adenomatous polyposis coli 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC Autosomal dominant 175100 Brain tumor-polyposis syndrome 2 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC 114500 Colorectal cancer, somatic 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC Autosomal dominant 135290 Desmoid disease, hereditary 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC Autosomal dominant 175100 Gardner syndrome 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC 613659 Gastric cancer, somatic 3 +611731 APC Adenomatous polyposis coli ENSG00000134982 APC, GS, FPC, BTPS2 150kb distal to MCC 114550 Hepatoblastoma, somatic 3 +159350 MCC Mutated in colorectal cancers ENSG00000171444 MCC 114500 Colorectal cancer, somatic 3 +181510 SCZD1 Schizophrenia susceptibility locus, chromosome 5-related SCZD1 Autosomal dominant 181500 Schizophrenia 2 +601860 HSD17B4 Hydroxysteroid (17-beta) dehydrogenase 4 ENSG00000133835 HSD17B4, PRLTS1 Autosomal recessive 261515 D-bifunctional protein deficiency 3 +601860 HSD17B4 Hydroxysteroid (17-beta) dehydrogenase 4 ENSG00000133835 HSD17B4, PRLTS1 Autosomal recessive 233400 Perrault syndrome 1 3 +616982 PRDM6 PR domain-containing protein 6 ENSG00000061455 PRDM6, PRISM, PDA3 Autosomal dominant 617039 Patent ductus arteriosus 3 3 +613446 CEP120 Centrosomal protein, 120kD ENSG00000168944 CEP120, CCDC100, SRTD13 Autosomal recessive 616300 Short-rib thoracic dysplasia 13 with or without polydactyly 3 +107323 ALDH7A1 Aldehyde dehydrogenase 7 family, member A1 (antiquitin 1) ENSG00000164904 ALDH7A1, ATQ1, EPD, PDE Autosomal recessive 266100 Epilepsy, pyridoxine-dependent 3 +150340 LMNB1 Lamin B1 ENSG00000113368 LMNB1, ADLD Autosomal dominant 169500 Leukodystrophy, adult-onset, autosomal dominant 3 +612453 MEGF10 Multiple epidermal growth factor-like domains 10 ENSG00000145794 MEGF10, KIAA1780, EMARDD Autosomal recessive 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 3 +612453 MEGF10 Multiple epidermal growth factor-like domains 10 ENSG00000145794 MEGF10, KIAA1780, EMARDD Autosomal recessive 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant 3 +612570 FBN2 Fibrillin-2 ENSG00000138829 FBN2, CCA, EOMD Autosomal dominant 121050 Contractural arachnodactyly, congenital 3 +612570 FBN2 Fibrillin-2 ENSG00000138829 FBN2, CCA, EOMD Autosomal dominant 616118 Macular degeneration, early-onset 3 +601314 HINT1 Histidine triad nucleotide-binding protein 1 (protein kinase C inhibitor 1) ENSG00000169567 HINT1, PRKCNH1, NMAN Autosomal recessive 137200 Neuromyotonia and axonal neuropathy, autosomal recessive 3 +615831 LYRM7 LYR motif-containing protein 7 ENSG00000186687 LYRM7, MZM1L, MC3DN8 Autosomal recessive 615838 Mitochondrial complex III deficiency, nuclear type 8 3 +608174 Autoimmune thyroid disease, susceptibility to, 2 AITD2 608174 Autoimmune thyroid disease, susceptibility to, 2 2 +605845 Dermatitis, atopic, 6 ATOD6 between D5S436 and D5S643 605845 Dermatitis, atopic, susceptibility to, 6 2 +609754 CELIAC2 Celiac disease, susceptibility to, 2 CELIAC2 609754 Celiac disease, susceptibility to, 2 2 +607683 DFNA52 Deafness, autosomal dominant 52 DFNA52, DFNA42 max lod at D5S2017 Autosomal dominant 607683 Deafness, autosomal dominant 52 2 +615649 DFNA54 Deafness, autosomal dominant 54 DFNA54 between D5S1972 and D5S410 Autosomal dominant 615649 Deafness, autosomal dominant 54 2 +131400 Eosinophilia, familial EOS Autosomal dominant 131400 Eosinophilia, familial 2 +606348 IBD5 Inflammatory bowel disease 5 IBD5 606348 Inflammatory bowel disease 5 2 +605598 IDDM18 Insulin-dependent diabetes mellitus-18 IDDM18 close to IL12B 605598 Diabetes mellitus, insulin-dependent, 18 2 +147061 IGES Immunoglobulin E concentration, serum IGES 147061 ?Allergy and asthma susceptibility 2 +606263 PDB4 Paget disease of bone 4 PDB4 Autosomal dominant 606263 Paget disease of bone 4 2 +248310 Plasmodium falciparum blood infection levels PFBI Autosomal recessive 248310 Malaria, intensity of infection 2 +612599 Psoriasis susceptibility 11 PSORS11 associated with rs10045431 612599 Psoriasis susceptibility 11 2 +615197 Restless legs syndrome, susceptibility to, 8 RLS8 615197 Restless legs syndrome 8 2 +181460 Schistosoma mansoni infection, susceptibility/resistance to SM1 Autosomal dominant 181460 Schistosoma mansoni infection, susceptibility/resistance to 2 +604443 ACSL6 Acyl-CoA synthetase long-chain family member 6 ENSG00000164398 ACSL6, FACL6, ACS2 Myelodysplastic syndrome 3 +604443 ACSL6 Acyl-CoA synthetase long-chain family member 6 ENSG00000164398 ACSL6, FACL6, ACS2 Myelogenous leukemia, acute 3 +603422 PDLIM4 LIM domain protein ril ENSG00000131435 RIL Autosomal dominant 166710 Osteoporosis, susceptibility to 3 +604190 SLC22A4 Solute carrier family 22 (organic cation transporter), member 4 ENSG00000197208 SLC22A4, OCTN1 180300 Rheumatoid arthritis, susceptibility to 3 +603377 SLC22A5 Solute carrier, family 22 (organic cation transporter), member 5 ENSG00000197375 SLC22A5, OCTN2, CDSP, SCD Autosomal recessive 212140 Carnitine deficiency, systemic primary 3 +147575 IRF1 Interferon regulatory factor-1 ENSG00000125347 IRF1, MAR 613659 Gastric cancer, somatic 3 +147575 IRF1 Interferon regulatory factor-1 ENSG00000125347 IRF1, MAR Myelodysplastic syndrome, preleukemic 3 +147575 IRF1 Interferon regulatory factor-1 ENSG00000125347 IRF1, MAR Myelogenous leukemia, acute 3 +147575 IRF1 Interferon regulatory factor-1 ENSG00000125347 IRF1, MAR 211980 Nonsmall cell lung cancer, somatic 3 +604040 RAD50 RAD50, S. cerevisiae, homolog of ENSG00000113522 RAD50, NBSLD 613078 Nijmegen breakage syndrome-like disorder 3 +147683 IL13 Interleukin-13 ENSG00000169194 IL13, ALRH, BHR1 607154 Allergic rhinitis, susceptibility to 3 +147683 IL13 Interleukin-13 ENSG00000169194 IL13, ALRH, BHR1 Autosomal dominant 600807 Asthma, susceptibility to 3 +612080 UQCRQ Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD ENSG00000164405 UQCRQ, QPC, MC3DN4 Autosomal recessive 615159 Mitochondrial complex III deficiency, nuclear type 4 3 +604417 AFF4 AF4/FMR2 family, member 4 ENSG00000072364 AFF4, AF5Q31, CHOPS Autosomal dominant 616368 CHOPS syndrome 3 +179095 UBE2B Ubiquitin-conjugating enzyme E2B (RAD6 homolog) ENSG00000119048 UBE2B, RAD6B ?Male infertility 1 +607690 SAR1B Sar1a, S. cerevisiae, homolog 2 ENSG00000152700 SAR1B, CMRD, SARA2, ANDD Autosomal recessive 246700 Chylomicron retention disease 3 +602149 PITX1 Paired-like homeodomain transcription factor-1 ENSG00000069011 PITX1, PTX1, BFT, POTX, CCF, LBNBG Autosomal dominant 119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 3 +602149 PITX1 Paired-like homeodomain transcription factor-1 ENSG00000069011 PITX1, PTX1, BFT, POTX, CCF, LBNBG Autosomal dominant 186550 Liebenberg syndrome 4 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 607541 Corneal dystrophy, Avellino type 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 121900 Corneal dystrophy, Groenouw type I 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD 608470 Corneal dystrophy, Reis-Bucklers type 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 602082 Corneal dystrophy, Thiel-Behnke type 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 121820 Corneal dystrophy, epithelial basement membrane 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 122200 Corneal dystrophy, lattice type I 3 +601692 TGFBI Transforming growth factor, beta-induced, 68kD ENSG00000120708 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Autosomal dominant 608471 Corneal dystrophy, lattice type IIIA 3 +605775 KLHL3 Kelch-like 3 ENSG00000146021 KLHL3, PHA2D Autosomal recessive, Autosomal dominant 614495 Pseudohypoaldosteronism, type IID 3 +604103 MYOT Myotilin (titin immunoglobulin domain protein) ENSG00000120729 MYOT, TTOD, MFM3 Autosomal dominant 159000 Muscular dystrophy, limb-girdle, type 1A 3 +604103 MYOT Myotilin (titin immunoglobulin domain protein) ENSG00000120729 MYOT, TTOD, MFM3 Autosomal dominant 609200 Myopathy, myofibrillar, 3 3 +604103 MYOT Myotilin (titin immunoglobulin domain protein) ENSG00000120729 MYOT, TTOD, MFM3 Autosomal dominant 182920 Myopathy, spheroid body 3 +609347 REEP2 Receptor expression-enhancing protein 2 ENSG00000132563 REEP2, C5orf19, SPG72 mutation identified in 1 family each SPG72 AR and AD Autosomal recessive, Autosomal dominant 615625 ?Spastic paraplegia 72, autosomal dominant 3 +609347 REEP2 Receptor expression-enhancing protein 2 ENSG00000132563 REEP2, C5orf19, SPG72 mutation identified in 1 family each SPG72 AR and AD Autosomal recessive, Autosomal dominant 615625 ?Spastic paraplegia 72, autosomal recessive 3 +600548 HSPA9 Heat-shock 70kD protein-9 (mortalin) ENSG00000113013 HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4 Autosomal dominant 182170 Anemia, sideroblastic, 4 3 +600548 HSPA9 Heat-shock 70kD protein-9 (mortalin) ENSG00000113013 HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4 Autosomal recessive 616854 Even-plus syndrome 3 +116805 CTNNA1 Catenin (cadherin-associated protein), alpha 1, 102kD ENSG00000044115 CTNNA1, MDPT2 Autosomal dominant 608970 Macular dystrophy, patterned, 2 3 +608005 SIL1 Sil1, S. cerevisiae, homolog of ENSG00000120725 SIL1, BAP, MSS Autosomal recessive 248800 Marinesco-Sjogren syndrome 3 +164015 MATR3 Matrin 3 ENSG00000280987 MATR3, MPD2, ALS21 Autosomal dominant 606070 Amyotrophic lateral sclerosis 21 3 +612374 TMEM173 Transmembrane protein 173 ENSG00000184584 TMEM173, STING, MPYS, SAVI Autosomal dominant 615934 STING-associated vasculopathy, infantile-onset 3 +601101 Hereditary hemorrhagic telangiectasia, type 3 HHT3, ORW3 601101 Telangiectasia, hereditary hemorrhagic, type 3 2 +600473 PURA Purine-rich element binding protein A ENSG00000185129 PURA, PUR1, MRD31 Autosomal dominant 616158 Mental retardation, autosomal dominant 31 3 +126150 HBEGF Heparin-binding EGF-like growth factor (diphtheria toxin receptor) ENSG00000113070 HBEGF, DTR, DTSF, HEGFL Diphtheria, susceptibility to 1 +602137 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8) ENSG00000131495 NDUFA2 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +142810 HARS Histidyl-tRNA synthetase ENSG00000170445 HARS, USH3B, CMT2W Autosomal dominant 616625 Charcot-Marie-Tooth disease, axonal, type 2W 3 +142810 HARS Histidyl-tRNA synthetase ENSG00000170445 HARS, USH3B, CMT2W Autosomal recessive 614504 Usher syndrome type 3B 3 +600783 HARS2 Histidyl-tRNA synthetase 2 ENSG00000112855 HARS2, HARSL, HARSR, HO3, PRLTS2 mutation identified in 1 PRLTS2 family Autosomal recessive 614926 ?Perrault syndrome 2 3 +602121 DIAPH1 Diaphanous, Drosophila, homolog of, 1 ENSG00000131504 DIAPH1, DFNA1, LFHL1, SCBMS Autosomal dominant 124900 Deafness, autosomal dominant 1 3 +602121 DIAPH1 Diaphanous, Drosophila, homolog of, 1 ENSG00000131504 DIAPH1, DFNA1, LFHL1, SCBMS Autosomal recessive 616632 Seizures, cortical blindness, microcephaly syndrome 3 +607984 SPRY4 Sprouty, Drosophila, homolog of ENSG00000187678 SPRY4, HH17 Autosomal dominant 615266 Hypogonadotropic hypogonadism 17 with or without anosmia 3 +605370 ARHGAP26 RHO GTPase-activating protein 26 ENSG00000145819 ARHGAP26, GRAF 607785 Leukemia, juvenile myelomonocytic, somatic 3 +138040 NR3C1 Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) ENSG00000113580 NR3C1, GCR, GRL, GCRST Autosomal dominant 615962 Glucocorticoid resistance 3 +615762 GRXCR2 Glutaredoxin, cysteine-rich, 2 ENSG00000204928 GRXCR2, DFNB101 mutation identified in 1 DFNB101 family Autosomal recessive 615837 ?Deafness, autosomal recessive 101 3 +151350 LARS Leucyl-tRNA synthetase ENSG00000133706 LARS, LFIS, ILFS1 mutation identified in 1 family Autosomal recessive 615438 ?Infantile liver failure syndrome 1 3 +602460 POU4F3 POU domain, class 4, transcription factor-3 ENSG00000091010 POU4F3, BRN3C Autosomal dominant 602459 Deafness, autosomal dominant 15 3 +604325 PPP2R2B Protein phosphatase 2, regulatory subunit B, beta ENSG00000156475 PPP2R2B Autosomal dominant 604326 Spinocerebellar ataxia 12 3 +167790 SPINK1 Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) ENSG00000164266 SPINK1, PSTI, PCTT, TATI, TCP Autosomal recessive, Autosomal dominant 608189 Fibrocalculous pancreatic diabetes, susceptibility to 3 +167790 SPINK1 Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) ENSG00000164266 SPINK1, PSTI, PCTT, TATI, TCP Autosomal dominant 167800 Pancreatitis, hereditary 3 +167790 SPINK1 Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) ENSG00000164266 SPINK1, PSTI, PCTT, TATI, TCP Autosomal recessive, Autosomal dominant 608189 Tropical calcific pancreatitis 3 +606531 SCGB3A2 Secretoglobin, family 3A, member 2 (uteroglobin-related protein 1) ENSG00000164265 SCGB3A2, UGRP1 Autosomal dominant 600807 Asthma, susceptibility to 3 +605010 SPINK5 Serine protease inhibitor, Kazal type, 5 ENSG00000133710 SPINK5, LEKTI Autosomal dominant 147050 Atopy 3 +605010 SPINK5 Serine protease inhibitor, Kazal type, 5 ENSG00000133710 SPINK5, LEKTI Autosomal recessive 256500 Netherton syndrome 3 +608533 FBXO38 F-box only protein 38 ENSG00000145868 FBXO38, FBX38, MOKA, HMN2D Autosomal dominant 615575 Neuronopathy, distal hereditary motor, type IID 3 +109690 ADRB2 Adrenergic, beta-2-, receptor, surface ENSG00000169252 ADRB2 Autosomal dominant 600807 Asthma, nocturnal, susceptibility to 3 +109690 ADRB2 Adrenergic, beta-2-, receptor, surface ENSG00000169252 ADRB2 Beta-2-adrenoreceptor agonist, reduced response to 3 +109690 ADRB2 Adrenergic, beta-2-, receptor, surface ENSG00000169252 ADRB2 Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, susceptibility to 3 +608206 SH3TC2 SH3 domain and tetratricopeptide repeat domain 2 ENSG00000169247 SH3TC2, KIAA1985, MNMN Autosomal recessive 601596 Charcot-Marie-Tooth disease, type 4C 3 +608206 SH3TC2 SH3 domain and tetratricopeptide repeat domain 2 ENSG00000169247 SH3TC2, KIAA1985, MNMN Autosomal dominant 613353 Mononeuropathy of the median nerve, mild 3 +608886 PPARGC1B Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta ENSG00000155846 PPARGC1B, PGC1B, PERC Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, variation in 3 +180071 PDE6A Phosphodiesterase-6A, cGMP-specific, rod, alpha ENSG00000132915 PDE6A, PDEA, RP43 613810 Retinitis pigmentosa 43 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 600972 Achondrogenesis Ib 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 256050 Atelosteogenesis II 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 256050 De la Chapelle dysplasia 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 222600 Diastrophic dysplasia 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 222600 Diastrophic dysplasia, broad bone-platyspondylic variant 3 +606718 SLC26A2 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) ENSG00000155850 SLC26A2, DTD, DTDST, D5S1708, EDM4 distal to APC Autosomal recessive 226900 Epiphyseal dysplasia, multiple, 4 3 +164770 CSF1R Colony-stimulating factor-1 receptor; oncogene FMS (McDonough feline sarcoma) ENSG00000182578 CSF1R, FMS, HDLS FMS2 is 5' end Autosomal dominant 221820 Leukoencephalopathy, diffuse hereditary, with spheroids 3 +173410 PDGFRB Platelet-derived growth factor receptor, beta polypeptide ENSG00000113721 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Autosomal dominant 615007 Basal ganglia calcification, idiopathic, 4 3 +173410 PDGFRB Platelet-derived growth factor receptor, beta polypeptide ENSG00000113721 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Autosomal dominant 616592 Kosaki overgrowth syndrome 3 +173410 PDGFRB Platelet-derived growth factor receptor, beta polypeptide ENSG00000113721 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Autosomal dominant 131440 Myeloproliferative disorder with eosinophilia 4 +173410 PDGFRB Platelet-derived growth factor receptor, beta polypeptide ENSG00000113721 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Autosomal dominant 228550 Myofibromatosis, infantile, 1 3 +173410 PDGFRB Platelet-derived growth factor receptor, beta polypeptide ENSG00000113721 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Autosomal dominant 601812 Premature aging syndrome, Penttinen type 3 +606847 TCOF1 Treacle ENSG00000070814 TCOF1, MFD1, TCS1 prox. to SPARC Autosomal dominant 154500 Treacher Collins syndrome 1 3 +613269 Corneal dystrophy, Fuchs endothelial, 5 FECD5, FCD3 flanked by D5S470 and D5S2108 613269 Corneal dystrophy, Fuchs endothelial, 5 2 +130620 RPS14 Ribosomal protein S14 ENSG00000164587 RPS14, EMTB 153550 Macrocytic anemia, refractory, due to 5q deletion, somatic 3 +600853 NDST1 N-deacetylase/N-sulfotransferase (heparan sulfate-N-deacetylase/N-sulfotransferase) ENSG00000070614 NDST1, HSST, MRT46 Autosomal recessive 616116 Mental retardation, autosomal recessive 46 3 +608212 IRGM Immunity-related GTPase family, M ENSG00000237693 IRGM, LRG47, IFI1, IBD19 612278 Inflammatory bowel disease (Crohn disease) 19 3 +608212 IRGM Immunity-related GTPase family, M ENSG00000237693 IRGM, LRG47, IFI1, IBD19 607948 Mycobacterium tuberculosis, protection against 3 +613109 GM2A GM2 ganglioside activator protein ENSG00000196743 GM2A pseudogene on chr.3 Autosomal recessive 272750 GM2-gangliosidosis, AB variant 3 +608331 SLC36A2 Solute carrier family 36 (proton/amino acid symporter), member 2 ENSG00000186335 SLC36A2, PAT2 Autosomal dominant 138500 Hyperglycinuria 3 +608331 SLC36A2 Solute carrier family 36 (proton/amino acid symporter), member 2 ENSG00000186335 SLC36A2, PAT2 Autosomal recessive 242600 Iminoglycinuria, digenic 3 +182120 SPARC Osteonectin (secreted protein, acidic, cysteine-rich) ENSG00000113140 SPARC, ON, OI17 Autosomal recessive 616507 Osteogenesis imperfecta, type XVII 3 +138491 GLRA1 Glycine receptor, alpha-1 polypeptide ENSG00000145888 GLRA1, STHE, HKPX1 Autosomal recessive, Autosomal dominant 149400 Hyperekplexia, hereditary 1, autosomal dominant or recessive 3 +601411 SGCD Sarcoglycan, delta (35kD dystrophin-associated glycoprotein) ENSG00000170624 SGCD, SGD, LGMD2F, CMD1L mutant in Syrian hamster cardiomyopathy 606685 Cardiomyopathy, dilated, 1L 3 +601411 SGCD Sarcoglycan, delta (35kD dystrophin-associated glycoprotein) ENSG00000170624 SGCD, SGD, LGMD2F, CMD1L mutant in Syrian hamster cardiomyopathy Autosomal recessive 601287 Muscular dystrophy, limb-girdle, type 2F 3 +606518 HAVCR1 Hepatitis A virus cellular receptor 1 ENSG00000113249 HAVCR1, HAVCR Autosomal dominant 147050 Atopy, resistance to 3 +186973 ITK T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk tyrosine kinase ENSG00000113263 ITK, EMT, LPFS1 Autosomal recessive 613011 Lymphoproliferative syndrome 1 3 +609383 NIPAL4 NIPA-like domain-containing 4 ENSG00000172548 NIPAL4, ICHYN, ARCI6 Autosomal recessive 612281 Ichthyosis, congenital, autosomal recessive 6 3 +161561 IL12B Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor-2, p40) ENSG00000113302 IL12B, NKSF2, IMD29 between GLR1 and GABRA1 Autosomal recessive 614890 Immunodeficiency 29, mycobacteriosis 3 +608036 Diabetes mellitus, noninsulin-dependent, 4 NIDDM4 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 2 +137160 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha-1 ENSG00000022355 GABRA1, EJM5, ECA4, EIEE19 in same 200kb as GABRG2 611136 Epilepsy, childhood absence, susceptibility to, 4 3 +137160 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha-1 ENSG00000022355 GABRA1, EJM5, ECA4, EIEE19 in same 200kb as GABRG2 611136 Epilepsy, juvenile myoclonic, susceptibility to, 5 3 +137160 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha-1 ENSG00000022355 GABRA1, EJM5, ECA4, EIEE19 in same 200kb as GABRG2 Autosomal dominant 615744 Epileptic encephalopathy, early infantile, 19 3 +137164 GABRG2 Gamma-aminobutyric acid (GABA) A receptor, gamma-2 ENSG00000113327 GABRG2, GEFSP3, CAE2, ECA2 in alpha/beta/gamma cluster Autosomal dominant 607681 Epilepsy, childhood absence, susceptibility to, 2 3 +137164 GABRG2 Gamma-aminobutyric acid (GABA) A receptor, gamma-2 ENSG00000113327 GABRG2, GEFSP3, CAE2, ECA2 in alpha/beta/gamma cluster Autosomal dominant 611277 Epilepsy, generalized, with febrile seizures plus, type 3 3 +137164 GABRG2 Gamma-aminobutyric acid (GABA) A receptor, gamma-2 ENSG00000113327 GABRG2, GEFSP3, CAE2, ECA2 in alpha/beta/gamma cluster Autosomal dominant 611277 Febrile seizures, familial, 8 3 +600936 HMMR Hyaluronan-mediated motility receptor (RHAMM) ENSG00000072571 HMMR Autosomal dominant 114480 Breast cancer, susceptibility to 3 +610533 WWC1 WW, C2, and coiled-coil domain-containing 1 ENSG00000113645 WWC1, KIBRA, KIAA0869, MEMRYQTL 615602 Memory, enhanced, QTL 3 +107820 RARS Arginyl-tRNA synthetase ENSG00000113643 RARS, HLD9 Autosomal recessive 616140 Leukodystrophy, hypomyelinating, 9 3 +208100 AMCN Arthrogryposis multiplex congenital, neurogenic AMCN, AMCN1 Autosomal recessive 208100 Arthrogryposis multiplex congenita, neurogenic 2 +603122 DOCK2 Dedicator of cytokinesis 2 ENSG00000134516 DOCK2, IMD40 Autosomal recessive 616433 Immunodeficiency 40 3 +601093 FOXI1 Forkhead box I1 ENSG00000168269 FOXI1, FKHL10, FREAC6 some patients have digenic mutations with SLC26A4 Autosomal recessive 600791 Enlarged vestibular aqueduct 3 +603951 KCNMB1 Potassium large conductance calcium-activated channel, subfamily M, beta member 1 ENSG00000145936 KCNMB1 Autosomal dominant 608622 Hypertension, diastolic, resistance to 3 +164040 NPM1 Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) ENSG00000181163 NPM1 fused with RARA in APL 601626 Leukemia, acute myeloid, somatic 3 +613293 SH3PXD2B SH3 and PX domains-containing protein 2B ENSG00000174705 SH3PXD2B, TKS4, KIAA1295, FTHS Autosomal recessive 249420 Frank-ter Haar syndrome 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 Autosomal dominant 108900 Atrial septal defect 7, with or without AV conduction defects 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 217095 Conotruncal heart malformations, variable 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 Autosomal dominant 614435 Hypoplastic left heart syndrome 2 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 Autosomal dominant 225250 Hypothyroidism, congenital nongoitrous, 5 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 Autosomal dominant 187500 Tetralogy of Fallot 3 +600584 NKX2-5 NK2 homeobox-5 gene ENSG00000183072 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 near border with 5q35 Autosomal dominant 614432 Ventricular septal defect 3 3 +612886 Menopause, natural, age at, QTL4 MENOQ4 associated with rs365132, rs7718874, rs402511, rs691141, rs2278493 612886 Menopause, natural, age at, QTL4 2 +123101 MSX2 msh, Drosophila, homeo box homolog of, 2 ENSG00000120149 MSX2, CRS2, HOX8 Autosomal dominant 604757 Craniosynostosis, type 2 3 +123101 MSX2 msh, Drosophila, homeo box homolog of, 2 ENSG00000120149 MSX2, CRS2, HOX8 Autosomal dominant 168500 Parietal foramina 1 3 +123101 MSX2 msh, Drosophila, homeo box homolog of, 2 ENSG00000120149 MSX2, CRS2, HOX8 Autosomal dominant 168550 Parietal foramina with cleidocranial dysplasia 3 +602569 SNCB Synuclein, beta ENSG00000074317 SNCB Autosomal dominant 127750 Dementia, Lewy body 3 +134935 FGFR4 Fibroblast growth factor receptor-4 ENSG00000160867 FGFR4 distal to DRD1 Cancer progression/metastasis 3 +606681 NSD1 Nuclear receptor binding SET domain protein 1 ENSG00000165671 NSD1, ARA267, STO, SOTOS1 fusion gene with NUP98 in AML Autosomal dominant 130650 Beckwith-Wiedemann syndrome 3 +606681 NSD1 Nuclear receptor binding SET domain protein 1 ENSG00000165671 NSD1, ARA267, STO, SOTOS1 fusion gene with NUP98 in AML Autosomal dominant 601626 Leukemia, acute myeloid 1 +606681 NSD1 Nuclear receptor binding SET domain protein 1 ENSG00000165671 NSD1, ARA267, STO, SOTOS1 fusion gene with NUP98 in AML Autosomal dominant 117550 Sotos syndrome 1 3 +182309 SLC34A1 Solute carrier family 34 (sodium phosphate cotransporter), member 1 ENSG00000131183 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 Autosomal recessive 613388 Fanconi renotubular syndrome 2 3 +182309 SLC34A1 Solute carrier family 34 (sodium phosphate cotransporter), member 1 ENSG00000131183 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 Autosomal recessive 616963 Hypercalcemia, infantile, 2 3 +182309 SLC34A1 Solute carrier family 34 (sodium phosphate cotransporter), member 1 ENSG00000131183 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 Autosomal dominant 612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 3 +610619 F12 Coagulation factor XII (Hageman factor) ENSG00000131187 F12, HAF, HAE3 Autosomal dominant 610618 Angioedema, hereditary, type III 3 +610619 F12 Coagulation factor XII (Hageman factor) ENSG00000131187 F12, HAF, HAE3 Autosomal recessive 234000 Factor XII deficiency 3 +608170 DDX41 DEAD/H box 41 ENSG00000183258 DDX41, ABS, MPLPF Autosomal dominant 616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 3 +604327 B4GALT7 Xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 ENSG00000027847 B4GALT7, XGALT1, XGPT1, EDSSLA Autosomal recessive 130070 Ehlers-Danlos syndrome with short stature and limb anomalies 3 +601538 PROP1 Prophet of Pit1, paired-like homeodomain transcription factor ENSG00000280635 PROP1, CPHD2 Autosomal recessive 262600 Pituitary hormone deficiency, combined, 2 3 +606470 NHP2 Nucleolar protein family A, member 2 ENSG00000145912 NOLA2, NHP2, DKCB2 Autosomal recessive 613987 Dyskeratosis congenita, autosomal recessive 2 3 +614683 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ENSG00000175309 PHYKPL, AGXT2L2, PHLU mutation identified in 1 PHLU patient 615011 ?Phosphohydroxylysinuria 3 +604096 GRM6 Glutamate receptor, metabotropic, 6 ENSG00000113262 GRM6, MGLUR6, CSNB1B Autosomal recessive 257270 Night blindness, congenital stationary (complete), 1B, autosomal recessive 3 +604539 ADAMTS2 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase) ENSG00000087116 ADAMTS2, NPI Autosomal recessive 225410 Ehlers-Danlos syndrome, type VIIC 3 +246530 LTC4S Leukotriene C4 synthase ENSG00000213316 LTC4S Autosomal recessive 614037 Leukotriene C4 synthase deficiency 1 +601530 SQSTM1 Sequestosome 1 ENSG00000161011 SQSTM1, P62, PDB3, FTDALS3 Autosomal dominant 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 3 +601530 SQSTM1 Sequestosome 1 ENSG00000161011 SQSTM1, P62, PDB3, FTDALS3 Autosomal dominant 167250 Paget disease of bone 3 3 +136352 FLT4 fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) ENSG00000037280 FLT4, VEGFR3, PCL, LMPH1A 602089 Hemangioma, capillary infantile, somatic 3 +136352 FLT4 fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) ENSG00000037280 FLT4, VEGFR3, PCL, LMPH1A Autosomal dominant 153100 Lymphedema, hereditary, IA 3 +612558 Leukemia, chronic lymphocytic susceptibility to, 4 CLLS4 associated with rs872071 612558 Leukemia, chronic lymphocytic susceptibility to, 4 2 +612582 Chromosome 6pter-p24 deletion syndrome DEL6pter, C6DELpter Isolated cases 612582 Chromosome 6pter-p24 deletion syndrome 4 +610294 Intelligence quantitative trait locus 3 INTLQ3 610294 Intelligence QTL3 2 +608545 Larsen-like syndrome LRSL Isolated cases 608545 Larsen-like syndrome 2 +601900 IRF4 Interferon regulatory factor-4 ENSG00000137265 IRF4, LSIRF, SHEP8 disregulated in t(6;14) 611724 Skin/hair/eye pigmentation, variation in, 8 3 +601090 FOXC1 Forkhead, Drosophila, homolog-like 7 ENSG00000054598 FOXC1, FKHL7, FREAC3, IRID1, RIEG3 Autosomal dominant 602482 Axenfeld-Rieger syndrome, type 3 3 +601090 FOXC1 Forkhead, Drosophila, homolog-like 7 ENSG00000054598 FOXC1, FKHL7, FREAC3, IRID1, RIEG3 Autosomal dominant 601631 Iridogoniodysgenesis, type 1 3 +601090 FOXC1 Forkhead, Drosophila, homolog-like 7 ENSG00000054598 FOXC1, FKHL7, FREAC3, IRID1, RIEG3 Autosomal dominant 601631 Iris hypoplasia and glaucoma 3 +601090 FOXC1 Forkhead, Drosophila, homolog-like 7 ENSG00000054598 FOXC1, FKHL7, FREAC3, IRID1, RIEG3 Autosomal dominant 602482 Rieger or Axenfeld anomalies 3 +173321 SERPINB6 Protease inhibitor 6 (placental thrombin inhibitor) ENSG00000124570 SERPINB6, PI6, PTI, SPI3, DFNB91 mutation identified in 1 DFNB91 family Autosomal recessive 613453 ?Deafness, autosomal recessive 91 3 +160998 NQO2 NAD(P)H dehydrogenase, quinone 2 (NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2) ENSG00000124588 NQO2, NMOR2 Autosomal dominant 114480 ?Breast cancer susceptibility 1 +615101 TUBB2A Tubulin, beta-2A ENSG00000137267 TUBB2A, CDCBM5 Autosomal dominant 615763 Cortical dysplasia, complex, with other brain malformations 5 3 +612850 TUBB2B Tubulin, beta-2B ENSG00000137285 TUBB2B, PMGYSA TUBB2A is 70kb telomeric to TUBB2B Autosomal dominant 610031 Polymicrogyria, symmetric or asymmetric 3 +613311 LYRM4 LYR motif-containing protein 4 ENSG00000214113 LYRM4, ISD11, C6orf149, COXPD19 mutation identified in 1 family Autosomal recessive 615595 ?Combined oxidative phosphorylation deficiency 19 3 +611592 FARS2 Phenylalanyl-tRNA synthetase 2, mitochondrial ENSG00000145982 FARS2, FARS1, COXPD14, SPG77 mutation identified in 1 SPG77 family Autosomal recessive 614946 Combined oxidative phosphorylation deficiency 14 3 +611592 FARS2 Phenylalanyl-tRNA synthetase 2, mitochondrial ENSG00000145982 FARS2, FARS1, COXPD14, SPG77 mutation identified in 1 SPG77 family Autosomal recessive 617046 ?Spastic paraplegia 77, autosomal recessive 3 +134570 F13A1 Coagulation factor XIII, A polypeptide ENSG00000124491 F13A1, F13A Autosomal recessive 613225 Factor XIIIA deficiency 3 +134570 F13A1 Coagulation factor XIII, A polypeptide ENSG00000124491 F13A1, F13A 608446 Myocardial infarction, protection against 3 +134570 F13A1 Coagulation factor XIII, A polypeptide ENSG00000124491 F13A1, F13A Autosomal dominant 188050 Venous thrombosis, protection against 3 +119530 OFC1 Orofacial cleft-1 (cleft lip with or without cleft palate; isolated cleft palate) OFC1, CL probable heterogeneity Autosomal dominant 119530 Orofacial cleft-1 2 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II Autosomal dominant 607450 Arrhythmogenic right ventricular dysplasia 8 3 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II Autosomal recessive 605676 Cardiomyopathy, dilated, with woolly hair and keratoderma 3 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II Autosomal dominant 615821 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 3 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II Autosomal recessive 609638 Epidermolysis bullosa, lethal acantholytic 3 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II 612908 Keratosis palmoplantaris striata II 3 +125647 DSP Desmoplakin ENSG00000096696 DSP, KPPS2, PPKS2, DCWHKTA splice variants result in DP I and DP II Autosomal recessive 607655 Skin fragility-woolly hair syndrome 3 +107580 TFAP2A Transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) ENSG00000137203 TFAP2A, AP2TF, BOFS Autosomal dominant 113620 Branchiooculofacial syndrome 3 +600429 GCNT2 Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme ENSG00000111846 GCNT2, Ii, CTRCT13 previously assigned to 9q21 Autosomal dominant 110800 Adult i phenotype without cataract 3 +600429 GCNT2 Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme ENSG00000111846 GCNT2, Ii, CTRCT13 previously assigned to 9q21 Autosomal dominant 110800 Blood group, Ii 3 +600429 GCNT2 Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme ENSG00000111846 GCNT2, Ii, CTRCT13 previously assigned to 9q21 Autosomal recessive 116700 Cataract 13 with adult i phenotype 3 +154235 MAK Male germ cell-associated kinase ENSG00000111837 MAK, RP62 Autosomal recessive 614181 Retinitis pigmentosa 62 3 +603716 GCM2 Glial cells missing, Drosophila, homolog of, 2 ENSG00000124827 GCM2, GCMB Autosomal dominant 146200 Hypoparathyroidism, familial isolated 3 +607017 DFNA21 Deafness, autosomal dominant 21 DFNA21 previously mapped to 6p21.3 Autosomal dominant 607017 Deafness, autosomal dominant 21 2 +131240 EDN1 Endothelin-1 ENSG00000078401 EDN1, ARCND3, QME, HDLCQ7 Autosomal recessive 615706 Auriculocondylar syndrome 3 3 +131240 EDN1 Endothelin-1 ENSG00000078401 EDN1, ARCND3, QME, HDLCQ7 High density lipoprotein cholesterol level QTL 7 3 +131240 EDN1 Endothelin-1 ENSG00000078401 EDN1, ARCND3, QME, HDLCQ7 Autosomal dominant 612798 Question mark ears, isolated 3 +612655 TBC1D7 TBC1 domain family, member 7 ENSG00000145979 TBC1D7, PIG51, TBC7, MGCPH Autosomal recessive 248000 Macrocephaly/megalencephaly syndrome, autosomal recessive 3 +611456 Tremor, hereditary essential, 3 ETM3 max lod at D6S1630 and D6S1605 611456 Tremor, hereditary essential, 3 2 +271250 SCAR3 Spinocerebellar ataxia, autosomal recessive 3 SCAR3, SCABD Autosomal recessive 271250 Spinocerebellar ataxia, autosomal recessive 3 2 +600511 SCZD3 Schizophrenia susceptibility locus, chromosome 6-related SCZD3 ?same as DTNBP1; cognitive deficit type Autosomal dominant 181500 Schizophrenia 2 +612368 Alkaline phosphatase, plasma level of, QTL 3 ALPQTL3 linkage with rs9467160 612368 Alkaline phosphatase, plasma level of, QTL3 2 +615192 Birth weight quantitative trait locus 4 BWQTL4 associated with rs7756992 615192 Birth weight QTL4 2 +613290 Hearing loss, cisplatin-induced, susceptibility to CIHL associated with rs12201199 613290 ?Hearing loss, cisplatin-induced, susceptibility to 2 +613015 Neuroblastoma, susceptibility to, 4 NBLST4 associated with rs6939340, rs4712653, rs9295536 613015 Neuroblastoma, susceptibility to, 4 2 +608244 OTSC3 Otosclerosis 3 OTSC3 Autosomal dominant 608244 Otosclerosis 3 2 +607145 DTNBP1 Dystrobrevin-binding protein 1 (dysbindin) ENSG00000047579 DTNBP1, HPS7 Autosomal recessive 614076 Hermansky-Pudlak syndrome 7 3 +601556 ATXN1 Ataxin-1 ENSG00000124788 ATXN1, ATX1, SCA1 Autosomal dominant 164400 Spinocerebellar ataxia 1 3 +608072 NHLRC1 NHL repeat-containing 1 gene (malin) ENSG00000187566 NHLRC1, EPM2A, EPM2B Autosomal recessive 254780 Epilepsy, progressive myoclonic 2B (Lafora) 3 +187680 TPMT Thiopurine S-methyltransferase ENSG00000137364 TPMT, TPMTD Autosomal recessive 610460 Thiopurines, poor metabolism of, 1 3 +125264 DEK DEK oncogene ENSG00000124795 DEK, D6S231E fused with CAN in t(6;9) 125264 Leukemia, acute nonlymphocytic 2 +611259 CDKAL1 CDK5 regulatory subunit-associated protein 1-like 1 ENSG00000145996 CDKAL1 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, susceptibility to 3 +605755 DCDC2 Doublecortin domain-containing protein 2 ENSG00000146038 DCDC2, RU2, KIAA1154, NPHP19, DFNB66 mutation identified in 1 DFNB66 family Autosomal recessive 610212 ?Deafness, autosomal recessive 66 3 +605755 DCDC2 Doublecortin domain-containing protein 2 ENSG00000146038 DCDC2, RU2, KIAA1154, NPHP19, DFNB66 mutation identified in 1 DFNB66 family Autosomal recessive 616217 Nephronophthisis 19 3 +610045 ALDH5A1 Succinic semialdehyde dehydrogenase ENSG00000112294 ALDH5A1, SSADH Autosomal recessive 271980 Succinic semialdehyde dehydrogenase deficiency 3 +609269 KIAA0319 KIAA0319 gene ENSG00000137261 KIAA0319, DYX2, DYLX2, DLX2 Autosomal dominant 600202 Dyslexia, susceptibility to, 2 3 +605764 TDP2 Tyrosyl-DNA phosphodiesterase 2 ENSG00000111802 TDP2, TTRAP Autosomal recessive 616949 Spinocerebellar ataxia, autosomal recessive 23 3 +602842 GMNN Geminin ENSG00000112312 GMNN, MGORS6 616835 Meier-Gorlin syndrome 6 3 +611410 FAM65B Family with sequence similarity 65, member B ENSG00000111913 FAM65B, C6orf32, KIAA0386, PL48, DFNB104 mutation identified in 1 DFNB104 family Autosomal recessive 616515 ?Deafness, autosomal recessive 104 3 +611034 SLC17A3 Solute carrier family 17 (sodium phosphate cotransporter), member 3 ENSG00000124564 SLC17A3, NPT4, UAQTL4, GOUT4 Autosomal dominant 612671 Gout susceptibility 4 3 +611034 SLC17A3 Solute carrier family 17 (sodium phosphate cotransporter), member 3 ENSG00000124564 SLC17A3, NPT4, UAQTL4, GOUT4 Autosomal dominant 612671 Uric acid concentration, serum, QTL4 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Autosomal dominant 104300 Alzheimer disease, susceptibility to 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Autosomal recessive 235200 Hemochromatosis 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 612635 Microvascular complications of diabetes 7 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Autosomal dominant 176100 Porphyria cutanea tarda, susceptibility to 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Autosomal dominant 176200 Porphyria variegata, susceptibility to 3 +613609 HFE Hemochromatosis gene ENSG00000010704 HFE, HLA-H, HFE1, MVCD7, TFQTL2 614193 Transferrin serum level QTL2 3 +612892 Stature quantitative trait locus 18 STQTL18 associated with rs10946808 612892 Stature QTL 18 2 +615016 OR2J3 Olfactory receptor, family 2, subfamily J, member 3 ENSG00000226271 OR2J3, C3HEXS Autosomal dominant 615082 C3HEX, ability to smell 3 +159465 MOG Myelin-oligodendrocyte glycoprotein ENSG00000204655 MOG, NRCLP7 60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family Autosomal dominant 614250 ?Narcolepsy 7 3 +612192 ZFP57 Zinc finger protein 57, mouse, homolog of ENSG00000234669 ZFP57, TNDM1 601410 Diabetes mellitus, transient neonatal, 1 3 +142871 HLA-G HLA-G histocompatibility antigen, class I ENSG00000235680 HLA-G Autosomal dominant 600807 Asthma, susceptibility to 2 +142800 HLA-A Major histocompatibility complex, class I, A ENSG00000224320 HLA-A 608579 Hypersensitivity syndrome, carbamazepine-induced, susceptibility to 3 +107320 Antiphospholipid syndrome, familial ATPLS possible linkage with HLA-DRB1*14 Autosomal dominant 107320 ?Antiphospholipid syndrome, familial 2 +612862 Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to CTEPH1 associated with DPB1*0202 612862 Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to 2 +608645 DFNA31 Deafness, autosomal dominant 31 DFNA31 between D6S276 and D6S273 Autosomal dominant 608645 Deafness, autosomal dominant 31 2 +608816 Epilepsy, juvenile myoclonic 3 EJM3 608816 Epilepsy, juvenile myoclonic 3 2 +613024 Follicular lymphoma, susceptibility to, 1 FL1 associated with rs6457327 613024 Follicular lymphoma, susceptibility to, 1 2 +604519 IBD3 Inflammatory bowel disease 3 IBD3 Autosomal dominant 604519 Inflammatory bowel disease 3 2 +222100 Insulin-dependent diabetes mellitus-1 IDDM1 linkage or association, with HLA Autosomal recessive 222100 Diabetes mellitus, insulin-dependent-1 2 +137100 IGAD1 Immunoglobulin A deficiency IGAD1 Autosomal recessive, Autosomal dominant, Isolated cases 137100 Immunoglobulin A deficiency 2 +150270 Laryngeal adductor paralysis LAP ?linkage to HLA and GLO1 Autosomal dominant 150270 ?Laryngeal adductor paralysis 2 +612593 Lung cancer susceptibility 4 LNCR4 associated with rs3117582 and rs3131379 612593 Lung cancer susceptibility 4 2 +614692 Membranous nephropathy, susceptibility to MBNP 614692 ?Membranous nephropathy, susceptibility to 2 +614644 Mean platelet volume quantitative trait locus 4 MPVQTL4 associated with rs210134 614644 Mean platelet volume QTL4 2 +607085 Myasthenia gravis with thymus hyperplasia MYAS1 607085 Myasthenia gravis with thymus hyperplasia 2 +161550 Nasopharyngeal carcinoma, susceptibility to, 2 NPCA2 associated with rs2517713 and rs2975042 161550 Nasopharyngeal carcinoma, susceptibility to, 2 2 +613007 Biliary cirrhosis, primary, 2 PBC2 associated with rs2856683 613007 Biliary cirrhosis, primary, 2 2 +600089 Pancreatic beta cell, agenesis of PBCA uniparental disomy Autosomal recessive 600089 ?Diabetes mellitus, insulin-dependent, neonatal 2 +604809 Panbronchiolitis, diffuse PBLT Multifactorial 604809 Panbronchiolitis, diffuse 2 +614590 Podoconiosis, susceptibility to PDCOS 614590 Podoconiosis, susceptibility to 2 +611185 Restless legs syndrome, susceptibility to, 6 RLS6 associated with rs9296249 and rs9357271 611185 Restless legs syndrome 6 2 +179450 Ragweed sensitivity RWS ?linkage or association, with HLA Autosomal dominant 179450 ?Ragweed sensitivity 2 +193200 Vitiligo-associated multiple autoimmune disease susceptibility 6 VAMAS6 possible second locus on 1p31.3-p32.2 Autosomal recessive 193200 Vitiligo-associated multiple autoimmune disease susceptibility 6 2 +608710 Wegener granulomatosis WG 608710 Wegener granulomatosis 2 +153600 Macroglobulinemia, Waldenstrom, susceptibility to, 1 WM1 linked to HLA Autosomal dominant 153600 Macroglobulinemia, Waldenstrom, susceptibility to, 1 2 +191130 TUBB Tubulin, beta polypeptide ENSG00000232575 TUBB, TUBB5, M40, CDCBM6, CSCSC1 Autosomal dominant 615771 Cortical dysplasia, complex, with other brain malformations 6 3 +191130 TUBB Tubulin, beta polypeptide ENSG00000232575 TUBB, TUBB5, M40, CDCBM6, CSCSC1 Autosomal dominant 156610 Symmetric circumferential skin creases, congenital, 1 3 +612802 VARS2 Valyl-tRNA synthetase 2 ENSG00000236178 VARS2, KIAA1885, COXPD20 Autosomal recessive 615917 Combined oxidative phosphorylation deficiency 20 3 +602593 CDSN Corneodesmosin ENSG00000237123 CDSN, HTSS1, HYPT2, PSS1 Autosomal dominant 146520 Hypotrichosis 2 3 +602593 CDSN Corneodesmosin ENSG00000237123 CDSN, HTSS1, HYPT2, PSS1 Autosomal recessive 270300 Peeling skin syndrome 1 3 +142840 HLA-C Major histocompatibility complex, class I, C ENSG00000204525 HLA-C, PSORS1 609423 HIV-1 viremia, susceptibility to 3 +142840 HLA-C Major histocompatibility complex, class I, C ENSG00000204525 HLA-C, PSORS1 Multifactorial 177900 Psoriasis susceptibility 1 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 Abacavir hypersensitivity, susceptibility to 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 Drug-induced liver injury due to flucloxacillin 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 Multifactorial 106300 Spondyloarthropathy, susceptibility to, 1 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 608579 Stevens-Johnson syndrome, susceptibility to 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 Synovitis, chronic, susceptibility to 3 +142830 HLA-B Major histocompatibility complex, class I, B ENSG00000206450 HLA-B, SPDA1 608579 Toxic epidermal necrolysis, susceptibility to 3 +601022 NFKBIL1 Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 ENSG00000236196 NFKBIL1 180300 Rheumatoid arthritis, susceptibility to 3 +153440 LTA Lymphotoxin alpha (formerly tumor necrosis factor beta) ENSG00000226275 LTA, TNFB cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B 610988 Leprosy, susceptibility to, 4 3 +153440 LTA Lymphotoxin alpha (formerly tumor necrosis factor beta) ENSG00000226275 LTA, TNFB cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B 608446 Myocardial infarction, susceptibility to 3 +153440 LTA Lymphotoxin alpha (formerly tumor necrosis factor beta) ENSG00000226275 LTA, TNFB cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B 607507 Psoriatic arthritis, susceptibility to 3 +191160 TNF Tumor necrosis factor (cachectin) ENSG00000230108 TNF, TNFA 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B Autosomal dominant 600807 Asthma, susceptibility to 3 +191160 TNF Tumor necrosis factor (cachectin) ENSG00000230108 TNF, TNFA 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B Dementia, vascular, susceptibility to 3 +191160 TNF Tumor necrosis factor (cachectin) ENSG00000230108 TNF, TNFA 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B 611162 Malaria, cerebral, susceptibility to 3 +191160 TNF Tumor necrosis factor (cachectin) ENSG00000230108 TNF, TNFA 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B Autosomal dominant 157300 Migraine without aura, susceptibility to 3 +191160 TNF Tumor necrosis factor (cachectin) ENSG00000230108 TNF, TNFA 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B Septic shock, susceptibility to 3 +611550 NCR3 Natural cytotoxicity triggering receptor 3 ENSG00000237808 NCR3, 1C7, NKP30, CD337, MALS 609148 Malaria, mild, susceptibility to 3 +608272 NEU1 Neuraminidase 1 (lysosomal sialidase; sialidase 1) ENSG00000234343 NEU1, NEU, SIAL1 Autosomal recessive 256550 Sialidosis, type I 3 +608272 NEU1 Neuraminidase 1 (lysosomal sialidase; sialidase 1) ENSG00000234343 NEU1, NEU, SIAL1 Autosomal recessive 256550 Sialidosis, type II 3 +613927 C2 Complement component-2 ENSG00000231543 C2, ARMD14 no crossover with BF Autosomal recessive 217000 C2 deficiency 3 +613927 C2 Complement component-2 ENSG00000231543 C2, ARMD14 no crossover with BF 615489 Macular degeneration, age-related, 14, reduced risk of 3 +138470 CFB Complement factor B ENSG00000243649 CFB, BF, GBG, AHUS4, ARMD14, CFBD mutation identified in 1 CFBD family 615561 ?Complement factor B deficiency 3 +138470 CFB Complement factor B ENSG00000243649 CFB, BF, GBG, AHUS4, ARMD14, CFBD mutation identified in 1 CFBD family Autosomal dominant 612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4 3 +138470 CFB Complement factor B ENSG00000243649 CFB, BF, GBG, AHUS4, ARMD14, CFBD mutation identified in 1 CFBD family 615489 Macular degeneration, age-related, 14, reduced risk of 3 +600478 SKIV2L Superkiller viralicidic activity 2, S. cerevisiae, homolog, like ENSG00000223493 SKIV2L, SKI2, SKI2W, THES2 Autosomal recessive 614602 Trichohepatoenteric syndrome 2 3 +120810 C4A Complement component-4A ENSG00000206340 C4A, C4S, C4AD order: HLA-B, C2, BF, C4A, C4B, CYP21, DR 614374 Blood group, Rodgers 3 +120810 C4A Complement component-4A ENSG00000206340 C4A, C4S, C4AD order: HLA-B, C2, BF, C4A, C4B, CYP21, DR Autosomal recessive 614380 C4a deficiency 3 +120820 C4B Complement component-4B ENSG00000236625 C4B, C4F, C4BD 10kb from C4S 614379 C4B deficiency 3 +613815 CYP21A2 Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase) ENSG00000235134 CYP21A2, CYP21, CA21H linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p Autosomal recessive 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 3 +613815 CYP21A2 Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase) ENSG00000235134 CYP21A2, CYP21, CA21H linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p Autosomal recessive 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 3 +600985 TNXB Tenascin XB ENSG00000229353 TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3, VUR8 Autosomal recessive 606408 Ehlers-Danlos syndrome due to tenascin X deficiency 3 +600985 TNXB Tenascin XB ENSG00000229353 TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3, VUR8 Autosomal dominant 615963 Vesicoureteral reflux 8 3 +606000 BTNL2 Butyrophilin-like protein 2 ENSG00000229597 BTNL2, SS2 612387 Sarcoidosis, susceptibility to, 2 3 +142857 HLA-DRB1 Major histocompatibility complex, class II, DR beta-1 ENSG00000236884 HLA-DRB1, SS1 Multifactorial 126200 Multiple sclerosis, susceptibility to, 1 3 +142857 HLA-DRB1 Major histocompatibility complex, class II, DR beta-1 ENSG00000236884 HLA-DRB1, SS1 142857 Pemphigoid, susceptibility to 2 +142857 HLA-DRB1 Major histocompatibility complex, class II, DR beta-1 ENSG00000236884 HLA-DRB1, SS1 180300 Rheumatoid arthritis, susceptibility to 3 +142857 HLA-DRB1 Major histocompatibility complex, class II, DR beta-1 ENSG00000236884 HLA-DRB1, SS1 Isolated cases 181000 Sarcoidosis, susceptibility to, 1 3 +146880 HLA-DQA1 Major histocompatibility complex, class II, DQ alpha-1 ENSG00000206305 HLA-DQA1, CELIAC1 Autosomal recessive, Multifactorial 212750 Celiac disease, susceptibility to 3 +604305 HLA-DQB1 Major histocompatibility complex, class II, DQ beta-1 ENSG00000225824 HLA-DQB1, CELIAC1 Autosomal recessive, Multifactorial 212750 Celiac disease, susceptibility to 3 +604305 HLA-DQB1 Major histocompatibility complex, class II, DQ beta-1 ENSG00000225824 HLA-DQB1, CELIAC1 Autosomal dominant 123400 Creutzfeldt-Jakob disease, variant, resistance to 3 +604305 HLA-DQB1 Major histocompatibility complex, class II, DQ beta-1 ENSG00000225824 HLA-DQB1, CELIAC1 Multifactorial 126200 Multiple sclerosis, susceptibility to, 1 3 +170261 TAP2 Transporter 2, ATP-binding cassette, subfamily B ENSG00000225967 TAP2, ABCB3, PSF2, RING11 tel-TAP1-LMP2-LMP1-TAP2-cen Autosomal recessive 604571 Bare lymphocyte syndrome, type I, due to TAP2 deficiency 3 +170261 TAP2 Transporter 2, ATP-binding cassette, subfamily B ENSG00000225967 TAP2, ABCB3, PSF2, RING11 tel-TAP1-LMP2-LMP1-TAP2-cen Wegener-like granulomatosis 3 +177046 PSMB8 Proteasome subunit, beta type, 8 (large multifunctional protease-7) ENSG00000235715 PSMB8, LMP7, RING10, JMP, NKJO, ALDD between TAP1 and TAP2 Autosomal recessive 256040 Autoinflammation, lipodystrophy, and dermatosis syndrome 3 +170260 TAP1 Transporter 1, ATP-binding cassette, subfamily B ENSG00000232367 TAP1, ABCB2, TAP1, RING4, PSF1 ~7kb telomeric to TAP2 Autosomal recessive 604571 Bare lymphocyte syndrome, type I 3 +142858 HLA-DPB1 Major histocompatibility complex, class II, DP beta-1 ENSG00000229295 HLA-DPB1 Beryllium disease, chronic, susceptibility to 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal dominant 601868 Deafness, autosomal dominant 13 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal recessive 609706 Deafness, autosomal recessive 53 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal recessive, Autosomal dominant 614524 Fibrochondrogenesis 2 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal recessive 215150 Otospondylomegaepiphyseal dysplasia 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal dominant 184840 Stickler syndrome, type III 3 +120290 COL11A2 Collagen XI, alpha-2 polypeptide ENSG00000206290 COL11A2, STL3, DFNA13, DFNB53, FBCG2 45kb centromeric of HLA-DPB2; 3'--5'-cen Autosomal dominant 277610 Weissenbacher-Zweymuller syndrome 3 +601962 TAPBP TAP-binding protein (tapasin) ENSG00000236490 TAPBP, TPSN Autosomal recessive 604571 Bare lymphocyte syndrome, type I 3 +603384 SYNGAP1 Synaptic Ras GTPase activating protein 1 ENSG00000227460 SYNGAP1, MRD5 Autosomal dominant 612621 Mental retardation, autosomal dominant 5 3 +612893 Stature quantitative trait locus 19 STQTL19 associated with rs1776897 612893 Stature QTL 19 2 +147267 ITPR3 Inositol 1,4,5-triphosphate receptor, type 3 ENSG00000096433 ITPR3 Autosomal recessive 222100 Diabetes, type 1, susceptibility to 2 +614461 UQCC2 Ubiquinol-cytochrome c reductase complex assembly factor 2 ENSG00000137288 UQCC2, C6orf126, M19 mutation identified in 1 MC3DN7 patient Autosomal recessive 615824 ?Mitochondrial complex III deficiency, nuclear type 7 3 +616312 LEMD2 LEM domain-containing protein 2 ENSG00000161904 LEMD2, NET25, CTRCT42 Autosomal recessive 212500 Cataract 46, juvenile-onset 3 +600701 HMGA1 High-mobility group AT-hook 1 ENSG00000137309 HMGA1, HMGIY Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, susceptibility to 3 +603632 RPS10 Ribosomal protein S10 ENSG00000124614 RPS10, DBA9 613308 Diamond-Blackfan anemia 9 3 +613976 FANCE Fanconi anemia, complementation group E gene ENSG00000112039 FANCE, FACE Autosomal recessive 600901 Fanconi anemia, complementation group E 3 +602280 TULP1 Tubby-like protein-1 ENSG00000112041 TULP1, RP14, LCA15 Autosomal recessive 613843 Leber congenital amaurosis 15 3 +602280 TULP1 Tubby-like protein-1 ENSG00000112041 TULP1, RP14, LCA15 Autosomal recessive 600132 Retinitis pigmentosa 14 3 +602623 FKBP5 FK506-binding protein 5 ENSG00000096060 FKBP5, FKBP51 608516 Major depressive disorder and accelerated response to antidepressant drug treatment 3 +609427 LHFPL5 LHFP-like protein 5 ENSG00000197753 LHFPL5, TMHS, DFNB67 Autosomal recessive 610265 Deafness, autosomal recessive 67 3 +608480 SLC26A8 Solute carrier family 26 (sulfate transporter), member 8 ENSG00000112053 SLC26A8, TAT1, SPGF3 Autosomal dominant 606766 Spermatogenic failure 3 3 +612121 PNPLA1 Patatin-like phospholipase domain-containing protein 1 ENSG00000180316 PNPLA1, ARCI10 Autosomal recessive 615024 Ichthyosis, congenital, autosomal recessive 10 3 +615080 Alzheimer disease 17 AD17 associated with rs75932628T 615080 Alzheimer disease 17 2 +603707 MOCS1 Molybdenum cofactor synthesis-1 ENSG00000124615 MOCS1, MOCODA Autosomal recessive 252150 Molybdenum cofactor deficiency A 3 +607498 Migraine with or without aura, susceptibility to, 3 MGR3 lod 5.78 at D6S452 Autosomal dominant 607498 Migraine with or without aura, susceptibility to, 3 2 +132100 Photoparoxysmal response 1 PPR1 max lod at D6S2427 Autosomal dominant 132100 Photoparoxysmal response 1 2 +605086 TREM2 Triggering receptor expressed on myeloid cells 2 ENSG00000095970 TREM2 Autosomal recessive 221770 Nasu-Hakola disease 3 +600364 GUCA1A Guanylate cyclase activator 1A, retina ENSG00000048545 GUCA1A, GCAP, COD3, CORD14 Autosomal dominant 602093 Cone dystrophy-3 3 +600364 GUCA1A Guanylate cyclase activator 1A, retina ENSG00000048545 GUCA1A, GCAP, COD3, CORD14 Autosomal dominant 602093 Cone-rod dystrophy 14 3 +602275 GUCA1B Guanylate cyclase activator 1B, retina ENSG00000112599 GUCA1B, GCAP2, GUCA2, RP48 613827 Retinitis pigmentosa 48 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal dominant 613105 Choriodal dystrophy, central areolar 2 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal recessive, Autosomal dominant 608133 Leber congenital amaurosis 18 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal dominant 169150 Macular dystrophy, patterned, 1 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal dominant 608161 Macular dystrophy, vitelliform, 3 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal recessive, Autosomal dominant 608133 Retinitis pigmentosa 7 and digenic 3 +179605 PRPH2 Peripherin 2, mouse, homolog of ENSG00000112619 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 digenic RP with ROM1 Autosomal recessive, Autosomal dominant 136880 Retinitis punctata albescens 3 +606628 GNMT Glycine N-methyltransferase ENSG00000124713 GNMT Autosomal recessive 606664 Glycine N-methyltransferase deficiency 3 +601498 PEX6 Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) ENSG00000124587 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 Autosomal recessive 616617 Heimler syndrome 2 3 +601498 PEX6 Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) ENSG00000124587 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 614862 Peroxisome biogenesis disorder 4A (Zellweger) 3 +601498 PEX6 Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) ENSG00000124587 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 614863 Peroxisome biogenesis disorder 4B 3 +601646 PPP2R5D Protein phosphatase-2, regulatory subunit B (B56), delta isoform ENSG00000112640 PPP2R5D, MRD35 Autosomal dominant 616355 Mental retardation, autosomal dominant 35 3 +609577 CUL7 Cullin 7 ENSG00000044090 CUL7, 3M1 Autosomal recessive 273750 3-M syndrome 1 3 +610060 POLR1C Polymerase I, RNA, subunit C ENSG00000171453 POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11 Autosomal recessive 616494 Leukodystrophy, hypomyelinating, 11 3 +610060 POLR1C Polymerase I, RNA, subunit C ENSG00000171453 POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11 Autosomal recessive 248390 Treacher Collins syndrome 3 3 +603968 POLH Polymerase, DNA, eta ENSG00000170734 POLH, XPV Autosomal recessive 278750 Xeroderma pigmentosum, variant type 3 +612648 RSPH9 Radial spoke head 9, Chlamydomonas, homolog of ENSG00000172426 RSPH9, CILD12 612650 Ciliary dyskinesia, primary, 12 3 +192240 VEGFA Vascular endothelial growth factor ENSG00000112715 VEGF, MVCD1 603933 Microvascular complications of diabetes 1 3 +612035 AARS2 Alanyl-tRNA synthetase 2 ENSG00000124608 AARS2, KIAA1270, MTALARS, COXPD8, LKENP Autosomal recessive 614096 Combined oxidative phosphorylation deficiency 8 3 +612035 AARS2 Alanyl-tRNA synthetase 2 ENSG00000124608 AARS2, KIAA1270, MTALARS, COXPD8, LKENP Autosomal recessive 615889 Leukoencephalopathy, progressive, with ovarian failure 3 +600211 RUNX2 Runt-related transcription factor 2 ENSG00000124813 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Autosomal dominant 119600 Cleidocranial dysplasia 3 +600211 RUNX2 Runt-related transcription factor 2 ENSG00000124813 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Autosomal dominant 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only 3 +600211 RUNX2 Runt-related transcription factor 2 ENSG00000124813 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Autosomal dominant 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly 3 +600211 RUNX2 Runt-related transcription factor 2 ENSG00000124813 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Autosomal dominant 156510 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 3 +607293 CLIC5 Chloride intracellular channel 5 ENSG00000112782 CLIC5, DFNB103 mutation identified in 1 DFNB103 family Autosomal recessive 616042 ?Deafness, autosomal recessive 103 3 +609026 Cataract 28 CTRCT28, ARCC1 609026 Cataract 28, age-related cortical, susceptibility to 2 +164100 NYS2 Nystagmus 2, congenital, autosomal dominant NYS2, NYSA Autosomal dominant 164100 Nystagmus 2, congenital, autosomal dominant 2 +601690 PLA2G7 Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) ENSG00000146070 PLA2G7, PAFAH, PAFAD Autosomal dominant 600807 Asthma, susceptibility to 3 +601690 PLA2G7 Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) ENSG00000146070 PLA2G7, PAFAH, PAFAD Autosomal dominant 147050 Atopy, susceptibility to 3 +601690 PLA2G7 Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) ENSG00000146070 PLA2G7, PAFAH, PAFAD 614278 Platelet-activating factor acetylhydrolase deficiency 3 +604241 CD2AP CD2-associated protein ENSG00000198087 CD2AP, CMS 607832 Glomerulosclerosis, focal segmental, 3 3 +609058 MUT Methylmalonyl Coenzyme A mutase ENSG00000146085 MUT, MCM Autosomal recessive 251000 Methylmalonic aciduria, mut(0) type 3 +180297 RHAG Rhesus blood group-associated glycoprotein ENSG00000112077 RHAG, RH50A, OHST Autosomal recessive 268150 Anemia, hemolytic, Rh-null, regulator type 3 +180297 RHAG Rhesus blood group-associated glycoprotein ENSG00000112077 RHAG, RH50A, OHST Autosomal dominant 185000 Overhydrated hereditary stomatocytosis 3 +180297 RHAG Rhesus blood group-associated glycoprotein ENSG00000112077 RHAG, RH50A, OHST Rh-mod syndrome 3 +601601 TFAP2B Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) ENSG00000008196 TFAP2B, CHAR, PDA2 Autosomal dominant 169100 Char syndrome 3 +601601 TFAP2B Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) ENSG00000008196 TFAP2B, CHAR, PDA2 Autosomal dominant 617035 Patent ductus arteriosus 2 3 +606702 PKHD1 Fibrocystin ENSG00000170927 FCYT, PKHD1, ARPKD Autosomal recessive 263200 Polycystic kidney and hepatic disease 3 +614345 MRT24 Mental retardation, autosomal recessive 24 MRT24 between rs651733 and rs1508668 Autosomal recessive 614345 Mental retardation, autosomal recessive 24 2 +606496 IL17F Interleukin 17F ENSG00000112116 IL17F, ML1, CANDF6 mutation identified in 1 CANDF6 family 613956 ?Candidiasis, familial, 6, autosomal dominant 3 +608815 EFHC1 EF hand domain (C-terminal)-containing 1 ENSG00000096093 EFHC1, FLJ10466, EJM1, JAE, EJA1 Autosomal dominant 607631 Epilepsy, juvenile absence, susceptibility to, 1 3 +608815 EFHC1 EF hand domain (C-terminal)-containing 1 ENSG00000096093 EFHC1, FLJ10466, EJM1, JAE, EJA1 Autosomal dominant 254770 Myoclonic epilepsy, juvenile, susceptibility to, 1 3 +612325 ICK Intestinal cell kinase ENSG00000112144 ICK, MRK, KIAA0936, ECO Autosomal recessive 612651 Endocrine-cerebroosteodysplasia 3 +611805 ELOVL5 Elongation of very long chain fatty acids-like 5 ENSG00000012660 ELOVL5, HELO1, SCA38 Autosomal dominant 615957 Spinocerebellar ataxia 38 3 +606857 GCLC Glutamate-cysteine ligase, catalytic subunit ENSG00000001084 GCLC, GLCLC Autosomal recessive 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 3 +606857 GCLC Glutamate-cysteine ligase, catalytic subunit ENSG00000001084 GCLC, GLCLC 608446 Myocardial infarction, susceptibility to 3 +113810 DST Dystonin (bullous pemphigoid antigen 1) ENSG00000151914 DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2 ?mutation identified in 1 HSAN6 family Autosomal recessive 615425 Epidermolysis bullosa simplex, autosomal recessive 2 3 +113810 DST Dystonin (bullous pemphigoid antigen 1) ENSG00000151914 DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2 ?mutation identified in 1 HSAN6 family Autosomal recessive 614653 ?Neuropathy, hereditary sensory and autonomic, type VI 3 +606144 RAB23 Ras-associated protein RAB23 ENSG00000112210 RAB23 Autosomal recessive 201000 Carpenter syndrome 3 +608173 Autoimmune thyroid disease, susceptibility to, 1 AITD1 608173 Autoimmune thyroid disease, susceptibility to, 1 2 +193007 Vertigo, benign paroxysmal positional BPPV max lod at D6S1556 Autosomal dominant 193007 Vestibulopathy, familial 2 +613544 Chromosome 6q11-q14 deletion syndrome DEL6q11q14, C6DELq11q14 contiguous gene deletion syndrome Isolated cases 613544 Chromosome 6q11-q14 deletion syndrome 4 +608905 Attention deficit-hyperactivity disorder, susceptibility to, 2 ADHD3 Autosomal dominant 143465 Attention deficit-hyperactivity disorder 2 +605582 CMD1K Cardiomyopathy, dilated, 1K CMD1K 605582 Cardiomyopathy, dilated, 1K 2 +614342 Mental retardation, autosomal recessive 30 MRT30 between rs4612125 and rs285651 Autosomal recessive 614342 Mental retardation, autosomal recessive 30 2 +612424 EYS Eyes shut, Drosophila, homolog of ENSG00000188107 EYS, RP25 602772 Retinitis pigmentosa 25 3 +611572 OTSC7 Otosclerosis 7 OTSC7 between D6S1036 and D6S300 Autosomal dominant 611572 Otosclerosis 7 2 +603175 Schizophrenia susceptibility locus, chromosome 6q-related SCZD5 max lod at D6S1626 and D6S292 Autosomal dominant 181500 Schizophrenia 2 +612625 LMBRD1 LMBR1 domain-containing protein 1 ENSG00000168216 LMBRD1, LMBD1, NESI, MAHCF Autosomal recessive 277380 Methylmalonic aciduria and homocystinuria, cblF type 3 +120210 COL9A1 Collagen IX, alpha-1 polypeptide ENSG00000112280 COL9A1, EDM6, STL4 mutation identified in 1 EDM6 family Autosomal dominant 614135 ?Epiphyseal dysplasia, multiple, 6 3 +120210 COL9A1 Collagen IX, alpha-1 polypeptide ENSG00000112280 COL9A1, EDM6, STL4 mutation identified in 1 EDM6 family 614134 Stickler syndrome, type IV 3 +606629 RIMS1 Regulating synaptic membrane exocytosis 1 ENSG00000079841 RIMS1, RIM1, RIM, KIAA0340, CORD7 603649 Cone-rod dystrophy 7 3 +611687 KHDC3L KH domain containing 3-like, subcortical maternal complex member ENSG00000203908 KHDC3L, C6orf221, ECAT1, HYDM2 Autosomal recessive 614293 Hydatidiform mole, recurrent, 2 3 +614667 MTO1 Mitochondrial translation optimization 1, S. cerevisiae, homolog of ENSG00000135297 MTO1, COXPD10 Autosomal recessive 614702 Combined oxidative phosphorylation deficiency 10 3 +604322 SLC17A5 Solute carrier family 17 (sodium phosphate), member 5 ENSG00000119899 SLC17A5, SIASD, SLD Autosomal recessive 604369 Salla disease 3 +604322 SLC17A5 Solute carrier family 17 (sodium phosphate), member 5 ENSG00000119899 SLC17A5, SIASD, SLD Autosomal recessive 269920 Sialic acid storage disorder, infantile 3 +120320 COL12A1 Collagen, type XII, alpha-1 ENSG00000111799 COL12A1, UCMD2, BTHLM2 mutation identified in 1 UCMD2 family 616471 Bethlem myopathy 2 3 +120320 COL12A1 Collagen, type XII, alpha-1 ENSG00000111799 COL12A1, UCMD2, BTHLM2 mutation identified in 1 UCMD2 family 616470 ?Ullrich congenital muscular dystrophy 2 3 +608988 Atrial fibrillation, familial, 2 ATFB2 max lod between D6S286 and D6S1021 608988 Atrial fibrillation, familial, 2 2 +600790 PBCRA1 Progressive bifocal chorioretinal atrophy PBCRA, CRAPB Autosomal dominant 600790 Chorioretinal atrophy, progressive bifocal 2 +610685 Split-hand/foot malformation with long bone deficiency 2 SHFLD2 between rs623155 and rs1547251 610685 Split-hand/foot malformation with long bone deficiency 2 2 +600970 MYO6 Myosin VI ENSG00000196586 MYO6, DFNA22, DFNB37 Autosomal dominant 606346 Deafness, autosomal dominant 22 3 +600970 MYO6 Myosin VI ENSG00000196586 MYO6, DFNA22, DFNB37 Autosomal dominant 606346 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy 3 +600970 MYO6 Myosin VI ENSG00000196586 MYO6, DFNA22, DFNB37 Autosomal recessive 607821 Deafness, autosomal recessive 37 3 +602870 IMPG1 Interphotoreceptor matrix proteoglycan-1 ENSG00000112706 IMPG1, IPM150, VMD4 Autosomal dominant 616151 Macular dystrophy, vitelliform, 4 3 +611408 LCA5 Lebercilin ENSG00000135338 LCA5, C6orf152 604537 Leber congenital amaurosis 5 3 +605512 ELOVL4 Elongation of very long chain fatty acids 4 ENSG00000118402 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 mutation identified in 1 SCA34 family Autosomal recessive 614457 Ichthyosis, spastic quadriplegia, and mental retardation 3 +605512 ELOVL4 Elongation of very long chain fatty acids 4 ENSG00000118402 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 mutation identified in 1 SCA34 family Autosomal dominant 133190 ?Spinocerebellar ataxia 34 3 +605512 ELOVL4 Elongation of very long chain fatty acids 4 ENSG00000118402 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 mutation identified in 1 SCA34 family Autosomal dominant 600110 Stargardt disease 3 3 +248611 BCKDHB Branched chain keto acid dehydrogenase E1, beta polypeptide ENSG00000083123 BCKDHB, E1B Autosomal recessive 248600 Maple syrup urine disease, type Ib 3 +172100 PGM3 Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1) ENSG00000013375 PGM3, AGM1, IMD23 Autosomal recessive 615816 Immunodeficiency 23 3 +609891 RIPPLY2 Ripply2, zebrafish, homolog of ENSG00000203877 RIPPLY2, C6orf59, SCDO6 mutation identified in 1 SCDO6 family Autosomal recessive 616566 ?Spondylocostal dysostosis 6 3 +615410 MRAP2 Melanocortin 2 receptor accessory protein 2 ENSG00000135324 MRAP2, C6orf117, BMIQ18 mutation identified in 1 BMIQ18 individual Autosomal dominant 615457 ?Obesity, susceptibility to, BMIQ18 3 +604613 TBX18 T-box 18 ENSG00000112837 TBX18, CAKUT2 Autosomal dominant 143400 Congenital anomalies of kidney and urinary tract 2 3 +129190 NT5E 5' nucleotidase, ecto (CD73) ENSG00000135318 NT5E, NT5 Autosomal recessive 211800 Calcification of joints and arteries 3 +616105 SNX14 Sorting nexin 14 ENSG00000135317 SNX14, SCAR20 Autosomal recessive 616354 Spinocerebellar ataxia, autosomal recessive 20 3 +605634 SLC35A1 Solute carrier family 35 (CMP-sialic acid transporter), member 1 ENSG00000164414 SLC35A1, CST, CDG2F Autosomal recessive 603585 Congenital disorder of glycosylation, type IIf 3 +611524 RARS2 Arginyl-tRNA synthetase 2 ENSG00000146282 RARS2, RARSL, PCH6 Autosomal recessive 611523 Pontocerebellar hypoplasia, type 6 3 +611776 NDUFAF4 NADH dehydrogenase 1 alpha subcomplex, assembly factor 4 ENSG00000123545 NDUFAF4, HRPAP20, C6orf66 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +605654 FBXL4 F-box and leucine-rich repeat protein 4 ENSG00000112234 FBXL4, FBL4, MTDPS13 Autosomal recessive 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 3 +616842 DNase1 hypersensitivity, chromosome 6, site 1 DHS6S1, MCDR1 upstream of PRDM13 and CCNC Autosomal dominant 136550 Macular dystrophy, North Carolina type 3 +611944 Lymphedema, hereditary, IB LMPH1B max lod at D6S1671 Autosomal dominant 611944 Lymphedema, hereditary, IB 2 +613828 Generalized epilepsy with febrile seizures plus, type 8 GEFSP8 between D6S962 and D6S287 613828 Epilespy, generalized, with febrile seizures plus, type 8 2 +603128 SIM1 Single-minded, Drosophila, homolog of, 1 ENSG00000112246 SIM1 Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, severe 3 +138244 GRIK2 Glutamate receptor, ionotropic, kainate 2 ENSG00000164418 GRIK2, GLUR6, MRT6 Autosomal recessive 611092 Mental retardation, autosomal recessive, 6 3 +610876 HACE1 HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase 1 ENSG00000085382 HACE1, KIAA1320, SPPRS Autosomal recessive 616756 Spastic paraplegia and psychomotor retardation with or without seizures 3 +606325 Heterotaxy, visceral, 3, autosomal HTX3 606325 ?Heterotaxy, visceral, 3, autosomal 2 +601666 IDDM15 Insulin-dependent diabetes mellitus-15 IDDM15 601666 Diabetes mellitus, insulin-dependent, 15 2 +606460 Longevity 2 LGV2 associated with rs2802292 606460 Longevity 2 2 +601349 Microphthalmia, syndromic 8 MCOPS8, MMEP translocation with 13q12 ?Autosomal dominant 601349 Microphthalmia, syndromic 8 2 +612882 Menarche, age at, QTL2 MENAQ2 associated with rs7759938 612882 Menarche, age at, QTL2 2 +608852 Pulmonary function PLF close to D6S281 608852 Pulmonary function 2 +604577 BVES Blood vessel epicardial substance ENSG00000112276 BVES, HBVES, POPDC1, LGMD2X mutation identified in 1 LGMD2X family Autosomal recessive 616812 ?Muscular dystrophy, limb-girdle, type 2X 3 +610502 RTN4IP1 Reticulon 4-interacting protein 1 ENSG00000130347 RTN4IP1, NIMP, OPA10 Autosomal recessive 616732 Optic atrophy 10 with or without ataxia, mental retardation, and seizures 3 +610564 PDSS2 Prenyl diphosphate synthase, subunit 2 ENSG00000164494 PDSS2, DLP1, C6orf210, COQ10D3 Autosomal recessive 614652 Coenzyme Q10 deficiency, primary, 3 3 +613667 SOBP Sine oculis-binding protein, Drosophila, homolog of ENSG00000112320 SOBP, JXC1, MRAMS Autosomal recessive 613671 Mental retardation, anterior maxillary protrusion, and strabismus 3 +608648 SEC63 Sec63, S. cerevisiae, homolog of ENSG00000025796 SEC63, PCLD2 Autosomal dominant 617004 Polycystic liver disease 2 3 +607649 OSTM1 Osteopetrosis associated transmembrane protein 1 (grey-lethal, mouse, homolog of) ENSG00000081087 OSTM1, GL, OPTB5 Autosomal recessive 259720 Osteopetrosis, autosomal recessive 5 3 +603356 CD164 CD164 antigen ENSG00000135535 CD164, DFNA66 mutation identified in 1 DFNA66 family Autosomal dominant 616969 ?Deafness, autosomal dominant 66 3 +614064 ZBTB24 Zinc finger- and BTB domain-containing protein 24 ENSG00000112365 ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2 Autosomal recessive 614069 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 3 +609390 FIG4 Fig4, S. cerevisiae, homolog of ENSG00000112367 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP mutation identified in 1 BTOP family Autosomal dominant 612577 Amyotrophic lateral sclerosis 11 3 +609390 FIG4 Fig4, S. cerevisiae, homolog of ENSG00000112367 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP mutation identified in 1 BTOP family Autosomal recessive 611228 Charcot-Marie-Tooth disease, type 4J 3 +609390 FIG4 Fig4, S. cerevisiae, homolog of ENSG00000112367 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP mutation identified in 1 BTOP family Autosomal recessive 612691 ?Polymicrogyria, bilateral temporooccipital 3 +609390 FIG4 Fig4, S. cerevisiae, homolog of ENSG00000112367 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP mutation identified in 1 BTOP family Autosomal recessive 216340 Yunis-Varon syndrome 3 +607043 TRAF3IP2 TRAF3-interacting protein 2 ENSG00000056972 TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8 mutation identified in 1 family with CANDF8 Autosomal recessive 615527 ?Candidiasis, familial, 8 3 +607043 TRAF3IP2 TRAF3-interacting protein 2 ENSG00000056972 TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8 mutation identified in 1 family with CANDF8 614070 Psoriasis susceptibility 13 3 +603400 WISP3 Wnt-1 inducible signaling pathway protein 3 ENSG00000112761 WISP3, PPAC, PPD Autosomal recessive 208230 Arthropathy, progressive pseudorheumatoid, of childhood 3 +603400 WISP3 Wnt-1 inducible signaling pathway protein 3 ENSG00000112761 WISP3, PPAC, PPD Autosomal recessive 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 3 +600133 LAMA4 Laminin, alpha-4 ENSG00000112769 LAMA4, LAMA3, CMD1JJ Autosomal dominant 615235 Cardiomyopathy, dilated, 1JJ 3 +609255 FEB5 Febrile seizures, familial, 5 FEB5 between D6S1572 and D6S472 Autosomal dominant 609255 Febrile seizures, familial, 5 2 +606035 Fasting insulin level quantitative trait locus 1 FIQTL1 max lod at D6S1569 606035 Fasting insulin level quantitative trait locus 1 2 +161950 IgA nephropathy, susceptibility to, 1 IGAN1 ?Autosomal dominant 161950 IgA nephropathy, susceptibility to, 1 2 +604201 Hepatic fibrosis susceptibility due to Schistosoma mansoni infection SM2 ?polymorphism of INFGR1 604201 Hepatic fibrosis susceptibility due to Schistosoma mansoni infection 2 +120110 COL10A1 Collagen X, alpha-1 polypeptide ENSG00000123500 COL10A1 Autosomal dominant 156500 Metaphyseal chondrodysplasia, Schmid type 3 +605942 DSE Dermatan sulfate epimerase ENSG00000240050 DSE, SART2, EDSMC2 mutation identified in 1 family Autosomal recessive 615539 ?Ehlers-Danlos syndrome, musculocontractural type 2 3 +604714 TSPYL1 Y-encoded testis-specific protein-like ENSG00000189241 TSPYL1, TSPYL, SIDDT Autosomal recessive 608800 Sudden infant death with dysgenesis of the testes syndrome 3 +612647 RSPH4A Radial spoke head 4, Chlamydomonas, homolog of, A ENSG00000111834 RSPH4A, CILD11 612649 Ciliary dyskinesia, primary, 11 3 +612659 RFX6 Regulatory factor X, 6 ENSG00000185002 RFX6, RFXDC1, MTCHRS Autosomal recessive 615710 Mitchell-Riley syndrome 3 +610463 NUS1 Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of ENSG00000153989 NUS1, NGBR, C6orf68, CDG1AA mutation identified in 1 CDG1AA family Autosomal recessive 617082 ?Congenital disorder of glycosylation, type 1aa 3 +142470 Fetal hemoglobin quantitative trait locus 2 HBFQTL2, FCP Autosomal dominant 142470 Fetal hemoglobin quantitative trait locus 2 2 +172405 PLN Phospholamban ENSG00000198523 PLN, PLB, CMD1P, CMH18 609909 Cardiomyopathy, dilated, 1P 3 +172405 PLN Phospholamban ENSG00000198523 PLN, PLB, CMD1P, CMH18 Autosomal dominant 613874 Cardiomyopathy, hypertrophic, 18 3 +610098 MCM9 Minichromosome maintenance complex component 9 ENSG00000111877 MCM9, MCMDC1, ODG4 Autosomal recessive 616185 Ovarian dysgenesis 4 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal dominant 600309 Atrioventricular septal defect 3 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal recessive 218400 Craniometaphyseal dysplasia, autosomal recessive 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal recessive, Autosomal dominant 133200 Erythrokeratodermia variabilis et progressiva 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal recessive 241550 Hypoplastic left heart syndrome 1 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal dominant 164200 Oculodentodigital dysplasia 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal recessive 257850 Oculodentodigital dysplasia, autosomal recessive 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal dominant 104100 Palmoplantar keratoderma with congenital alopecia 3 +121014 GJA1 Gap junction protein, alpha-1, 43kD (connexin 43) ENSG00000152661 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP pseudogene on chr.5 Autosomal dominant 186100 Syndactyly, type III 3 +603283 TRDN Triadin ENSG00000186439 TRDN, TDN, CPVT5 Autosomal recessive 615441 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 3 +156225 LAMA2 Laminin, alpha-2 (merosin) ENSG00000196569 LAMA2, LAMM Autosomal recessive 607855 Muscular dystrophy, congenital merosin-deficient 3 +156225 LAMA2 Laminin, alpha-2 (merosin) ENSG00000196569 LAMA2, LAMM Autosomal recessive 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency 3 +607446 BMIQ3 Body mass index quantitative trait locus 3 BMIQ3 max lod at D6S305 607446 Body mass index QTL3 2 +602067 Cardiomyopathy, dilated-1F, autosomal dominant CMD1F, CDCD3, LGMD1D 602067 Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D 2 +609319 Hematocrit/hemoglobin quantitative trait locus 1 HCHGQ1 609319 Hematocrit/hemoglobin quantitative trait locus 1 2 +608935 Lung cancer 1 LNCR1 max hlod at D6S2436 608935 Lung cancer susceptibility 2 +611536 Major affective disorder 6 MAFD6, BPAD 611536 Major affective disorder 6 2 +180300 Rheumatoid arthritis, susceptibility to RA associated with SNP rs10499194 and rs6920220 180300 Rheumatoid arthritis, susceptibility to 2 +614494 RP63 Retinitis pigmentosa 63 RP63 between D6S457 and D6S1656 Autosomal dominant 614494 Retinitis pigmentosa 63 2 +612378 Systemic lupus erythematosus, susceptibility to, 13 SLEB13 612378 Systemic lupus erythematosus, susceptibility to, 13 2 +608220 SPG25 Spastic paraplegia 25, autosomal recessive, with disc herniation SPG25 Autosomal recessive 608220 Spastic paraplegia 25, autosomal recessive 2 +608313 ARG1 Arginase, liver ENSG00000118520 ARG1 Autosomal recessive 207800 Argininemia 3 +605042 MED23 Mediator complex subunit 23 ENSG00000112282 MED23, MRT18 Autosomal recessive 614249 Mental retardation, autosomal recessive 18 3 +173335 ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENSG00000197594 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Autosomal recessive 208000 Arterial calcification, generalized, of infancy, 1 3 +173335 ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENSG00000197594 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Autosomal dominant 615522 Cole disease 3 +173335 ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENSG00000197594 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Autosomal dominant 125853 Diabetes mellitus, non-insulin-dependent, susceptibility to 3 +173335 ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENSG00000197594 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED 613312 Hypophosphatemic rickets, autosomal recessive, 2 3 +173335 ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENSG00000197594 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, susceptibility to 3 +603570 VNN1 Vanin 1 ENSG00000112299 VNN1, HDLCQ8 High density lipoprotein cholesterol level QTL 8 3 +603550 EYA4 Eyes absent, Drosophila, homolog of, 4 ENSG00000112319 EYA4, DFNA10, CMD1J 605362 Cardiomyopathy, dilated, 1J 3 +603550 EYA4 Eyes absent, Drosophila, homolog of, 4 ENSG00000112319 EYA4, DFNA10, CMD1J Autosomal dominant 601316 Deafness, autosomal dominant 10 3 +614645 Mean platelet volume quantitative trait locus 5 MPVQTL5 associated with rs9399137 614645 Mean platelet volume QTL5 2 +189990 MYB Avian myeloblastosis viral (v-myb) oncogene homolog ENSG00000118513 MYB T-cell acute lymphoblastic leukemia 3 +608894 AHI1 Abelson helper integration site 1 ENSG00000135541 AHI1 Autosomal recessive 608629 Joubert syndrome-3 3 +601757 PEX7 Peroxisomal biogenesis factor-7 ENSG00000112357 PEX7, RCDP1, PBD9B 614879 Peroxisome biogenesis disorder 9B 3 +601757 PEX7 Peroxisomal biogenesis factor-7 ENSG00000112357 PEX7, RCDP1, PBD9B Autosomal recessive 215100 Rhizomelic chondrodysplasia punctata, type 1 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B 600263 H. pylori infection, susceptibility to 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B 610424 Hepatitis B virus infection, susceptibility to 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B Autosomal recessive 209950 Immunodeficiency 27A, mycobacteriosis, AR 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B Autosomal dominant 615978 Immunodeficiency 27B, mycobacteriosis, AD 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B 607948 Tuberculosis infection, protection against 3 +107470 IFNGR1 Immune interferon, receptor for ENSG00000027697 IFNGR1, IMD27A, IMD27B 607948 Tuberculosis, susceptibility to 3 +191163 TNFAIP3 Tumor necrosis factor-alpha-induced protein 3 ENSG00000118503 TNFAIP3, A20, OTUD7C, AISBL Autosomal dominant 616744 Autoinflammatory syndrome, familial, Behcet-like 3 +612863 Chromosome 6q24-q25 deletion syndrome DEL6q24q25, C6DELq25q25 612863 Chromosome 6q25-q25 deletion syndrome 4 +606255 Stature quantitative trait locus 1 STQTL1 associated with rs4896582 and rs3748069 606255 Stature QTL 1 2 +602937 CITED2 CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 ENSG00000164442 CITED2, MRG1, P35SRJ, VSD2, ASD8 ?pseudogene on 1q22 Autosomal dominant 614433 Atrial septal defect 8 3 +602937 CITED2 CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 ENSG00000164442 CITED2, MRG1, P35SRJ, VSD2, ASD8 ?pseudogene on 1q22 Autosomal dominant 614431 Ventricular septal defect 2 3 +127500 Dyschromatosis universalis hereditaria 1 DUH1, DUH max lod at D6S1553 Autosomal dominant 127500 Dyschromatosis universalis hereditaria 1 2 +612243 ADGRG6 Adhesion G protein-coupled receptor G6 ENSG00000112414 ADGRG6, PR126, VIGR, LCCS9 Autosomal recessive 616503 Lethal congenital contracture syndrome 9 3 +143054 HIVEP2 Human immunodeficiency virus type I enhancer-binding protein-2 ENSG00000010818 HIVEP2, MRD43 Autosomal dominant 616977 Mental retardation, autosomal dominant 43 3 +603164 PEX3 Peroxisomal biogenesis factor-3 ENSG00000034693 PEX3, PBD10A 614882 Peroxisome biogenesis disorder 10A (Zellweger) 3 +603044 PLAGL1 Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor) ENSG00000118495 PLAGL1, ZAC, LOT1 relaxed imprinting in TNDM 601410 Diabetes mellitus, transient neonatal 1 +605014 STX11 Syntaxin-11 ENSG00000135604 STX11, FHL4, HPLH4, HLH4 Autosomal recessive 603552 Hemophagocytic lymphohistiocytosis, familial, 4 3 +607566 EPM2A Laforin ENSG00000112425 EPM2A, MELF, EPM2 Autosomal recessive 254780 Epilepsy, progressive myoclonic 2A (Lafora) 3 +604473 GRM1 Glutamate receptor, metabotropic, 1 ENSG00000152822 GRM1, MGLUR1, GRM1A, SCAR13 Autosomal recessive 614831 Spinocerebellar ataxia, autosomal recessive 13 3 +612114 Bone mineral density quantitative trait locus 11 BMND11 associated with rs4870044, rs1038304, and rs1999805 612114 Bone mineral density QTL 11 2 +612521 Diabetes mellitus, insulin-dependent, 21 IDDM21 associated with rs1738074 612521 Diabetes mellitus, insulin-dependent, 21 2 +600883 IDDM8 Insulin-dependent diabetes mellitus-8 IDDM8 600883 Diabetes mellitus, insulin-dependent, 8 2 +180020 RCD1 Retinal cone dystrophy-1 RCD1 Autosomal dominant 180020 ?Retinal cone dystrophy-1 2 +605101 TAB2 Tak1 (MAP3K7) binding protein 2 ENSG00000055208 TAB2, MAP3K7IP2, KIAA0733, CHTD2 Autosomal dominant 614980 Congenital heart defects, nonsyndromic, 2 3 +608829 SUMO4 Small ubiquitin-like modifier 4 ENSG00000177688 SUMO4, IDDM5 600320 Diabetes mellitus, insulin-dependent, 5 3 +612025 IYD Iodotyrosine deiodinase ENSG00000009765 IYD, DEHAL1, TDH4 Autosomal recessive 274800 Thyroid dyshormonogenesis 4 3 +614917 RMND1 Required for meiotic nuclear division 1, S. cerevisiae, homolog of ENSG00000155906 RMND1, COXPD11 Autosomal recessive 614922 Combined oxidative phosphorylation deficiency 11 3 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR Atherosclerosis, susceptibility to 3 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR Autosomal dominant 114480 Breast cancer 1 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR Autosomal recessive 615363 Estrogen resistance 3 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR HDL response to hormone replacement, augmented 3 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR Autosomal dominant 157300 Migraine, susceptibility to 3 +133430 ESR1 Estrogen receptor 1 ENSG00000091831 ESR1, ESR, ESTRR 608446 Myocardial infarction, susceptibility to 3 +608441 SYNE1 Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1) ENSG00000131018 SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 Autosomal dominant 612998 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 3 +608441 SYNE1 Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1) ENSG00000131018 SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 Autosomal recessive 610743 Spinocerebellar ataxia, autosomal recessive 8 3 +612010 Celiac disease, susceptibility to, 12 CELIAC12 in LD block containing TAGAP 612010 Celiac disease, susceptibility to, 12 2 +614556 ARID1B AT-rich interaction domain-containing protein 1B ENSG00000049618 ARID1B, BAF250B, KIAA1235, MRD12, CSS1 Autosomal dominant 135900 Coffin-Siris syndrome 1 3 +614725 SERAC1 Serine active site-containing protein 1 ENSG00000122335 SERAC1, MEGDEL Autosomal recessive 614739 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3 +608780 GTF2H5 General transcription factor IIH, polypeptide 5 ENSG00000272047 GTF2H5, TTD3, TFB5, C6orf175, TTDA 616395 Trichothiodystrophy 3, photosensitive 3 +615876 RSPH3 Radial spoke head 3, Chlamydomonas, homolog of ENSG00000130363 RSPH3, RSHL2, RSP3, CILD32 Autosomal recessive 616481 Ciliary dyskinesia, primary, 32 3 +147460 SOD2 Superoxide dismutase-2, mitochondrial ENSG00000112096 SOD2, MNSOD, MVCD6 612634 Microvascular complications of diabetes 6 3 +100678 ACAT2 Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) ENSG00000120437 ACAT2 encoded on strand opposite TCP1 Isolated cases 614055 ?ACAT2 deficiency 1 +147280 IGF2R Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent) ENSG00000197081 IGF2R, MPRI behaves as a tumor suppressor 114550 Hepatocellular carcinoma, somatic 3 +152200 LPA Apolipoprotein Lp(a) ENSG00000198670 LPA absent in mice Coronary artery disease, susceptibility to 1 +152200 LPA Apolipoprotein Lp(a) ENSG00000198670 LPA absent in mice LPA deficiency, congenital 3 +608219 DFNB38 Deafness, autosomal recessive 38 DFNB38 Autosomal recessive 608219 Deafness, autosomal recessive 38 2 +614347 MRT28 Mental retardation, autosomal recessive 28 MRT28 between rs6935718 and rs3886091 Autosomal recessive 614347 Mental retardation, autosomal recessive 28 2 +173350 PLG Plasminogen ENSG00000122194 PLG 20cM from TCP10A Autosomal recessive 217090 Dysplasminogenemia 3 +173350 PLG Plasminogen ENSG00000122194 PLG 20cM from TCP10A Autosomal recessive 217090 Plasminogen deficiency, type I 3 +602544 PARK2 Parkin ENSG00000185345 PRKN, PARK2, PDJ, LPRS2 shares 5' regulatory region and both 3' UTRs with PACRG 211980 Adenocarcinoma of lung, somatic 3 +602544 PARK2 Parkin ENSG00000185345 PRKN, PARK2, PDJ, LPRS2 shares 5' regulatory region and both 3' UTRs with PACRG 167000 Adenocarcinoma, ovarian, somatic 3 +602544 PARK2 Parkin ENSG00000185345 PRKN, PARK2, PDJ, LPRS2 shares 5' regulatory region and both 3' UTRs with PACRG 607572 Leprosy, susceptibility to 3 +602544 PARK2 Parkin ENSG00000185345 PRKN, PARK2, PDJ, LPRS2 shares 5' regulatory region and both 3' UTRs with PACRG Autosomal recessive 600116 Parkinson disease, juvenile, type 2 3 +215400 Chordoma CHDM associated with duplication of the T gene Autosomal dominant 215400 Chordoma, susceptibility to 4 +611382 Kala-azar, susceptibility to, 3 KAZA3 611382 Kala-azar, susceptibility to, 3 2 +610652 PDE10A Phosphodiesterase 10A ENSG00000112541 PDE10A, IOLOD, ADSD2 Autosomal recessive 616921 Dyskinesia, limb and orofacial, infantile-onset 3 +610652 PDE10A Phosphodiesterase 10A ENSG00000112541 PDE10A, IOLOD, ADSD2 Autosomal dominant 616922 Striatal degeneration, autosomal dominant 3 +601397 T Brachyury, mouse, homolog of ENSG00000164458 T, TFT, SAVA Autosomal dominant 182940 Neural tube defects, susceptibility to 3 +601397 T Brachyury, mouse, homolog of ENSG00000164458 T, TFT, SAVA Autosomal recessive 615709 Sacral agenesis with vertebral anomalies 3 +614738 MPC1 Brain protein 44-like ENSG00000060762 BRP44L, MPC1, MPYCD Autosomal recessive 614741 Mitochondrial pyruvate carrier deficiency 3 +612944 RNASET2 Ribonuclease T2 ENSG00000026297 RNASET2, RNASE6PL Autosomal recessive 612951 Leukoencephalopathy, cystic, without megalencephaly 3 +605392 FGFR1OP Fibroblast growth factor receptor-1 oncogene partner ENSG00000213066 FGFR1OP, FOP fusion gene with ZNF198, CEP1, and FGFR1 605392 Myeloproliferative disorder 2 +607223 SMOC2 Secreted modular calcium-binding protein 2 ENSG00000112562 SMOC2, SMAP2, DTDP1 Autosomal recessive 125400 Dentin dysplasia, type I, with microdontia and misshapen teeth 3 +188061 THBS2 Thrombospondin 2 ENSG00000186340 THBS2 603932 Lumbar disc herniation, susceptibility to 3 +615532 ERMARD Endoplasmic reticulum membrane-associated RNA degradation protein ENSG00000276187 ERMARD, C6orf70, PVNH6 Autosomal dominant 615544 ?Periventricular nodular heterotopia 6 3 +600075 TBP TATA box binding protein ENSG00000112592 TBP, SCA17, HDL4 Isolated cases, Multifactorial 168600 Parkinson disease, susceptibility to 3 +600075 TBP TATA box binding protein ENSG00000112592 TBP, SCA17, HDL4 Autosomal dominant 607136 Spinocerebellar ataxia 17 3 +614021 Ventricular tachycardia, catecholaminergic polymorphic, 3 CPVT3 between D7S526 and D7S481 Autosomal recessive 614021 Ventricular tachycardia, catecholaminergic polymorphic, 3 2 +605635 Hyperaldosteronism, familial, type II FHII 605635 Hyperaldosteronism, familial, type II 2 +614238 Hypotrichosis 10 HYPT10 between D7S1532 and D7S3047 614238 Hypotrichosis 10 2 +611061 FAM20C Family with sequence similarity 20, member C ENSG00000177706 FAM20C, DMP4 Autosomal recessive 259775 Raine syndrome 3 +614864 DNAAF5 HEAT repeat-containing protein 2 ENSG00000164818 HEATR2, CILD18 Autosomal recessive 614874 Ciliary dyskinesia, primary, 18 3 +602686 MAD1L1 Mitotic arrest-deficient 1, yeast, homolog-like 1 ENSG00000002822 MAD1L1, TXBP181 Lymphoma, somatic 3 +602686 MAD1L1 Mitotic arrest-deficient 1, yeast, homolog-like 1 ENSG00000002822 MAD1L1, TXBP181 176807 Prostate cancer, somatic 3 +602576 LFNG Lunatic fringe ENSG00000106003 LFNG, SCDO3 mutation identified in 1 SDO3 family 609813 ?Spondylocostal dysostosis 3, autosomal recessive 3 +614506 BRAT1 BRCA1-associated ATM activator 1 ENSG00000106009 BRAT1, BAAT1, C7orf27, RMFSL Autosomal recessive 614498 Rigidity and multifocal seizure syndrome, lethal neonatal 3 +607210 CARD11 Caspase recruitment domain-containing protein 11 ENSG00000198286 CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11 Autosomal dominant 616452 B-cell expansion with NFKB and T-cell anergy 3 +607210 CARD11 Caspase recruitment domain-containing protein 11 ENSG00000198286 CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11 Autosomal recessive 615206 Immunodeficiency 11 3 +185100 Strabismus, susceptibility to, 1 STBMS1 max lod at marker 1911/1912 185100 Strabismus, susceptibility to, 1 2 +613653 AP5Z1 Adaptor-related protein complex 5, zeta-1 subunit ENSG00000242802 AP5Z1, KIAA0415, SPG48 Autosomal recessive 613647 Spastic paraplegia 48, autosomal recessive 3 +102630 ACTB Actin, beta ENSG00000075624 ACTB, BRWS1 ~20 pseudogenes also; mutation identified in twin DJO patients Autosomal dominant 243310 Baraitser-Winter syndrome 1 3 +102630 ACTB Actin, beta ENSG00000075624 ACTB, BRWS1 ~20 pseudogenes also; mutation identified in twin DJO patients Autosomal dominant 607371 ?Dystonia, juvenile-onset 3 +609948 RNF216 RING finger protein 216 ENSG00000011275 RNF216, TRIAD3, ZIN, CAHH Autosomal recessive 212840 Cerebellar ataxia and hypogonadotropic hypogonadism 3 +600259 PMS2 Postmeiotic segregation increased, S. cerevisiae, 2, homolog of ENSG00000122512 PMS2, PMSL2, HNPCC4 614337 Colorectal cancer, hereditary nonpolyposis, type 4 3 +600259 PMS2 Postmeiotic segregation increased, S. cerevisiae, 2, homolog of ENSG00000122512 PMS2, PMSL2, HNPCC4 Autosomal recessive 276300 Mismatch repair cancer syndrome 3 +153880 CYMD Macular dystrophy, dominant cystoid MDDC ?allelic to RP9 Autosomal dominant 153880 Macular dystrophy, dominant cystoid 2 +614283 GLCCI1 Clucocorticoid-induced transcript 1 ENSG00000106415 GLCCI1, TSSN1, GCTR 614400 Glucocorticoid therapy, response to 3 +613576 Ectodermal dysplasia-syndactyly syndrome 2 EDSS2 between D7S488 and D7S817 Autosomal recessive 613576 Ectodermal dysplasia-syndactyly syndrome 2 2 +613462 Fasting plasma glucose level QTL 4 FGQTL4 associated with rs2191349 613462 Fasting plasma glucose level QTL 4 2 +614631 ISPD Isoprenoid synthase domain-containing protein ENSG00000214960 ISPD, MDDGA7, MDDGC7 Autosomal recessive 614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 3 +614631 ISPD Isoprenoid synthase domain-containing protein ENSG00000214960 ISPD, MDDGA7, MDDGC7 Autosomal recessive 616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 3 +601622 TWIST1 TWIST, Drosophila, homolog of, 1 ENSG00000122691 TWIST1, ACS3, SCS, CRS1 Autosomal dominant 123100 Craniosynostosis, type 1 3 +601622 TWIST1 TWIST, Drosophila, homolog of, 1 ENSG00000122691 TWIST1, ACS3, SCS, CRS1 Autosomal dominant 180750 Robinow-Sorauf syndrome 3 +601622 TWIST1 TWIST, Drosophila, homolog of, 1 ENSG00000122691 TWIST1, ACS3, SCS, CRS1 Autosomal dominant 101400 Saethre-Chotzen syndrome 3 +601622 TWIST1 TWIST, Drosophila, homolog of, 1 ENSG00000122691 TWIST1, ACS3, SCS, CRS1 Autosomal dominant 101400 Saethre-Chotzen syndrome with eyelid anomalies 3 +613219 Fasting plasma glucose level QTL 2; Birth weight QTL 1 FGQTL2, BWQTL1 associated with rs4607517 613219 Birth weight QTL 1 2 +613219 Fasting plasma glucose level QTL 2; Birth weight QTL 1 FGQTL2, BWQTL1 associated with rs4607517 613219 Fasting plasma glucose level QTL 2 2 +608367 MYP17 Myopia 17 MYP17, MYP4 previously assigned to 7q36 (MYP4) Autosomal dominant 608367 Myopia 17 2 +612737 Stature quantitative trait locus 17 STQTL17 associated with rs1635852 and rs849140 612737 Stature QTL 17 2 +603339 DNAH11 Dynein, axonemal, heavy chain-11 ENSG00000105877 DNAH11, DNAHC11, CILD7, DNAHBL Autosomal recessive 611884 Ciliary dyskinesia, primary, 7, with or without situs inversus 3 +147620 IL6 Interleukin-6 (interferon, beta-2) ENSG00000136244 IL6, IFNB2, BSF2, HSF, HGF Multifactorial 266600 Crohn disease-associated growth failure 3 +147620 IL6 Interleukin-6 (interferon, beta-2) ENSG00000136244 IL6, IFNB2, BSF2, HSF, HGF Autosomal recessive 222100 Diabetes, susceptibility to}, 3 +147620 IL6 Interleukin-6 (interferon, beta-2) ENSG00000136244 IL6, IFNB2, BSF2, HSF, HGF Autosomal dominant 108010 Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to 3 +147620 IL6 Interleukin-6 (interferon, beta-2) ENSG00000136244 IL6, IFNB2, BSF2, HSF, HGF Autosomal dominant 148000 Kaposi sarcoma, susceptibility to 3 +147620 IL6 Interleukin-6 (interferon, beta-2) ENSG00000136244 IL6, IFNB2, BSF2, HSF, HGF 604302 Rheumatoid arthritis, systemic juvenile 3 +610531 FAM126A Hyccin ENSG00000122591 FAM126A, DRCTNNB1A, HLD5 Autosomal recessive 610532 Leukodystrophy, hypomyelinating, 5 3 +611119 KLHL7 Kelch-like 7 ENSG00000122550 KLHL7, RP42, CISS3 617055 Cold-induced sweating syndrome 3 3 +611119 KLHL7 Kelch-like 7 ENSG00000122550 KLHL7, RP42, CISS3 Autosomal dominant 612943 Retinitis pigmentosa 42 3 +608798 DFNA5 DFNA5 gene ENSG00000105928 DFNA5 Autosomal dominant 600994 Deafness, autosomal dominant 5 3 +123970 CYCS Cytochrome C, somatic ENSG00000172115 CYCS, CYC, THC4 Autosomal dominant 612004 Thrombocytopenia 4 3 +600124 HNRNPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1 ENSG00000122566 HNRPA2B1, IBMPFD2 mutation identified in 1 family 615422 ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 3 +614780 SNX10 Sorting nexin 10 ENSG00000086300 SNX10, OPTB8 Autosomal recessive 615085 Osteopetrosis, autosomal recessive 8 3 +142955 HOXA1 Homeo box-A1 ENSG00000105991 HOXA1, HOX1F, BSAS 601536 Athabaskan brainstem dysgenesis syndrome 3 +142955 HOXA1 Homeo box-A1 ENSG00000105991 HOXA1, HOX1F, BSAS 601536 Bosley-Salih-Alorainy syndrome 3 +604685 HOXA2 Homeobox A2 ENSG00000105996 HOXA2, MCOHI Autosomal recessive, Autosomal dominant 612290 ?Microtia with or without hearing impairment (AD) 3 +604685 HOXA2 Homeobox A2 ENSG00000105996 HOXA2, MCOHI Autosomal recessive, Autosomal dominant 612290 ?Microtia, hearing impairment, and cleft palate (AR) 3 +142958 HOXA11 Homeo box-A11 ENSG00000005073 HOXA11, HOX1I, RUSAT1 Autosomal dominant 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 3 +142959 HOXA13 Homeo box-A13 ENSG00000106031 HOXA13, HOX1J Autosomal dominant 176305 Guttmacher syndrome 3 +142959 HOXA13 Homeo box-A13 ENSG00000106031 HOXA13, HOX1J Autosomal dominant 140000 Hand-foot-uterus syndrome 3 +610655 Telangiectasia, hereditary hemorrhagic, type 4 HHT4 between D7S2252 and D7S510 Autosomal dominant 610655 Telangiectasia, hereditary hemorrhagic, type 4 2 +614505 FKBP14 FK506-binding protein 14 ENSG00000106080 FKBP14, EDSKMH Autosomal recessive 614557 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 3 +600287 GARS Glycyl-tRNA synthetase ENSG00000106105 GARS, SMAD1, CMT2D, HMN5 Autosomal dominant 601472 Charcot-Marie-Tooth disease, type 2D 3 +600287 GARS Glycyl-tRNA synthetase ENSG00000106105 GARS, SMAD1, CMT2D, HMN5 Autosomal dominant 600794 Neuropathy, distal hereditary motor, type VA 3 +107776 AQP1 Aquaporin-1 (channel-forming integral protein, 28kD) ENSG00000240583 AQP1, CHIP28, CO Aquaporin-1 deficiency 3 +107776 AQP1 Aquaporin-1 (channel-forming integral protein, 28kD) ENSG00000240583 AQP1, CHIP28, CO 110450 Blood group, Colton 3 +139191 GHRHR Growth hormone releasing hormone receptor ENSG00000106128 GHRHR, GHRFR, IGHD1B 612781 Growth hormone deficiency, isolated, type IB 3 +604088 PPP1R17 G-substrate ENSG00000106341 GSBS Autosomal dominant 143890 Hypercholesterolemia, susceptibility to 3 +606224 NT5C3A 5' nucleotidase, cytosolic IIIA (uridine 5' monophosphate hydrolase 1) ENSG00000122643 NT5C3A, NT5C3, UMPH1, PSN1 pseudogenes on chr.4 and chr.7 Autosomal recessive 266120 Anemia, hemolytic, due to UMPH1 deficiency 3 +607331 RP9 RP9 gene (pim1-associated protein, mouse, homolog of) ENSG00000164610 RP9, PAP1 mutation identified in 1 patient Autosomal dominant 180104 ?Retinitis pigmentosa 9 3 +607968 BBS9 Parathyroid hormone-responsive B1 gene ENSG00000122507 PTHB1, BBS9 Autosomal recessive 615986 Bardet-Biedl syndrome 9 3 +608699 BMPER BMP binding endothelial regulator ENSG00000164619 BMPER, CV2 Autosomal recessive 608022 Diaphanospondylodysostosis 3 +608595 NPSR1 Neuropeptide S receptor 1 ENSG00000187258 NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2 608584 Asthma, susceptibility to, 2 3 +606061 TBX20 T-box 20 ENSG00000164532 TBX20, ASD4 611363 Atrial septal defect 4 3 +616027 ANLN Actin-binding protein anillin ENSG00000011426 ANLN, FSFS8 Autosomal dominant 616032 Focal segmental glomerulosclerosis 8 3 +607421 NME8 NME/NM23 family member 8 ENSG00000086288 NME8, TXNDC3, SPTRX2, CILD6 Autosomal recessive 610852 Ciliary dyskinesia, primary, 6 3 +606570 SFRP4 Secreted frizzled-related protein 4 ENSG00000106483 SFRP4, FRPHE, PYL Autosomal recessive 265900 Pyle disease 3 +609062 POU6F2 POU domain, class 6, transcription factor 2 ENSG00000106536 POU6F2, WTSL, WT5 Autosomal dominant, Somatic mutation 601583 Wilms tumor susceptibility-5 3 +609188 MPLKIP M-phase specific PLK1 interacting protein ENSG00000168303 MPLKIP, C7orf11, ABHS, TTDN1, TTD4 Autosomal recessive 234050 Trichothiodystrophy 4, nonphotosensitive 3 +609187 SUGCT Chromosome 7 open reading frame 10 ENSG00000175600 C7orf10, GA3 Autosomal recessive 231690 Glutaric aciduria III 3 +165240 GLI3 GLI-Kruppel family member GLI3 (oncogene GLI3) ENSG00000106571 GLI3, PAPA, PAPB amplified in glioblastoma Autosomal dominant 175700 Greig cephalopolysyndactyly syndrome 3 +165240 GLI3 GLI-Kruppel family member GLI3 (oncogene GLI3) ENSG00000106571 GLI3, PAPA, PAPB amplified in glioblastoma 241800 Hypothalamic hamartomas, somatic 3 +165240 GLI3 GLI-Kruppel family member GLI3 (oncogene GLI3) ENSG00000106571 GLI3, PAPA, PAPB amplified in glioblastoma Autosomal dominant 146510 Pallister-Hall syndrome 3 +165240 GLI3 GLI-Kruppel family member GLI3 (oncogene GLI3) ENSG00000106571 GLI3, PAPA, PAPB amplified in glioblastoma Autosomal dominant 174200 Polydactyly, postaxial, types A1 and B 3 +165240 GLI3 GLI-Kruppel family member GLI3 (oncogene GLI3) ENSG00000106571 GLI3, PAPA, PAPB amplified in glioblastoma Autosomal dominant 174700 Polydactyly, preaxial, type IV 3 +109750 BLVRA Biliverdin reductase A ENSG00000106605 BLVRA Autosomal recessive, Autosomal dominant 614156 Hyperbiliverdinemia 3 +612931 PGAM2 Phosphoglycerate mutase, muscle form ENSG00000164708 PGAM2, PGAMM, GSD10 Autosomal recessive 261670 Glycogen storage disease X 3 +138079 GCK Glucokinase (hexokinase-4) ENSG00000106633 GCK, HHF3 proximal to TCRB Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, late onset 3 +138079 GCK Glucokinase (hexokinase-4) ENSG00000106633 GCK, HHF3 proximal to TCRB Autosomal dominant 606176 Diabetes mellitus, permanent neonatal 3 +138079 GCK Glucokinase (hexokinase-4) ENSG00000106633 GCK, HHF3 proximal to TCRB Autosomal dominant 602485 Hyperinsulinemic hypoglycemia, familial, 3 3 +138079 GCK Glucokinase (hexokinase-4) ENSG00000106633 GCK, HHF3 proximal to TCRB Autosomal dominant 125851 MODY, type II 3 +608010 NPC1L1 NPC1-like 1 ENSG00000015520 NPC1L1 Ezetimibe, nonresponse to 3 +613022 OGDH Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase) ENSG00000105953 OGDH Autosomal recessive 203740 Alpha-ketoglutarate dehydrogenase deficiency 1 +607929 CCM2 Malcavernin ENSG00000136280 C7orf22, CCM2, MGC4067 Autosomal dominant 603284 Cerebral cavernous malformations-2 3 +103072 ADCY1 Adenylate cyclase-1, brain ENSG00000164742 ADCY1, DFNB44 mutation identified in 1 DFNB44 family Autosomal recessive 610154 ?Deafness, autosomal recessive 44 3 +613067 Leukemia, acute lymphoblastic, susceptibility to, 2 ALL2 associated with rs11978267 613067 Leukemia, acute lymphoblastic, susceptibility to, 2 2 +603023 IKZF1 Ikaros family zinc finger 1 ENSG00000185811 IKZF1, ZNFN1A1, IK1, LYF1, CVID13 fused with BCL6 in DLBL Autosomal dominant 616873 Immunodeficiency, common variable, 13 3 +107930 DDC DOPA decarboxylase (aromatic L-amino acid decarboxylase) ENSG00000132437 DDC Autosomal recessive 608643 Aromatic L-amino acid decarboxylase deficiency 3 +614676 Cardiomyopathy, familial hypertrophic, 21 CMH21 max lod at D7S669 Autosomal dominant 614676 Cardiomyopathy, hypertrophic, 21 2 +608658 Prostate cancer, hereditary, 4 HPC4 Autosomal dominant 176807 Prostate cancer, susceptibility to, 4 2 +608345 NYS3 Nystagmus 3, congenital, autosomal dominant NYS3 translocation t(7;15)(p11.2;q11.2) Autosomal dominant 608345 Nystagmus 3, congenital, autosomal dominant 2 +180860 Silver-Russell syndrome SRS, RSS maternal uniparental disomy of chromosome 7 Isolated cases 180860 Silver-Russell syndrome 4 +131550 EGFR Epidermal growth factor receptor ENSG00000146648 EGFR, NISBD2 same as oncogene ERBB; mutation identified in 1 NISBD2 family Autosomal recessive 211980 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in 3 +131550 EGFR Epidermal growth factor receptor ENSG00000146648 EGFR, NISBD2 same as oncogene ERBB; mutation identified in 1 NISBD2 family Autosomal recessive 616069 ?Inflammatory skin and bowel disease, neonatal, 2 3 +131550 EGFR Epidermal growth factor receptor ENSG00000146648 EGFR, NISBD2 same as oncogene ERBB; mutation identified in 1 NISBD2 family Autosomal recessive 211980 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in 3 +131550 EGFR Epidermal growth factor receptor ENSG00000146648 EGFR, NISBD2 same as oncogene ERBB; mutation identified in 1 NISBD2 family Autosomal recessive 211980 Nonsmall cell lung cancer, susceptibility to 3 +172480 PSPH Phosphoserine phosphatase ENSG00000146733 PSPH, PSP, PSPHD Autosomal recessive 614023 Phosphoserine phosphatase deficiency 3 +616244 CHCHD2 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 ENSG00000106153 CHCHD2, PARK22 616710 Parkinson disease 22, autosomal dominant 3 +252270 Monosomy 7 of bone marrow MLSM7, DEL7q, C7DELq Autosomal recessive 252270 Myelodysplasia and leukemia syndrome with monosomy 7 4 +105800 ANIB1 Aneurysm, intracranial berry, 1 ANIB1 in or near ELN Autosomal dominant 105800 Aneurysm, intracranial berry, 1 2 +129900 EEC1 Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 EEC1 Autosomal dominant 129900 ?EEC syndrome-1 2 +610247 Esophagitis, eosinophilic, 1 EOE1, EE associated with rs2302009 Multifactorial 610247 Esophagitis, eosinophilic, 1 2 +611499 GUSB Glucuronidase, beta- ENSG00000169919 GUSB, MPS7 Autosomal recessive 253220 Mucopolysaccharidosis VII 3 +608310 ASL Argininosuccinate lyase ENSG00000126522 ASL Autosomal recessive 207900 Argininosuccinic aciduria 3 +611725 KCTD7 Potassium channel tetramerization domain containing 7 ENSG00000243335 KCTD7, EPM3, CLN14 Autosomal recessive 611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 3 +607444 SBDS SBDS gene ENSG00000126524 SBDS, SDS 609135 Aplastic anemia, susceptibility to 3 +607444 SBDS SBDS gene ENSG00000126524 SBDS, SDS Autosomal recessive 260400 Shwachman-Diamond syndrome 3 +607270 AUTS2 KIAA0442 gene ENSG00000158321 KIAA0442, MRD26 translocation break at 7q11.2 Autosomal dominant 615834 Mental retardation, autosomal dominant 26 3 +613729 Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb DEL7q11.23, C7DELq11.23 contiguous gene deletion syndrome 613729 Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb 4 +609757 Chromosome 7q11.23 duplication syndrome DUP7q11.23, C7DUPq11.23 Autosomal dominant 609757 Chromosome 7q11.23 duplication syndrome 4 +194050 Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome) WBS, WMS, WS, DEL7q11, C7DELq11 contiguous gene syndrome Autosomal dominant 194050 Williams-Beuren syndrome 4 +130160 ELN Elastin ENSG00000049540 ELN Autosomal dominant 123700 Cutis laxa, AD 3 +130160 ELN Elastin ENSG00000049540 ELN Autosomal dominant 185500 Supravalvar aortic stenosis 3 +608512 NCF1 Neutrophil cytosolic factor-1, 47kD ENSG00000158517 NCF1 Autosomal recessive 233700 Chronic granulomatous disease due to deficiency of NCF-1 3 +601767 HIP1 Huntingtin interacting protein-1 ENSG00000127946 HIP1 Autosomal dominant 176807 Prostate cancer, progression of 1 +124015 POR Cytochrome P450 oxidoreductase ENSG00000127948 POR Autosomal recessive 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 3 +124015 POR Cytochrome P450 oxidoreductase ENSG00000127948 POR 613571 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 3 +602195 HSPB1 Heat-shock 27kD protein-1 ENSG00000106211 HSPB1, HSP27, CMT2F, HMN2B Autosomal dominant 606595 Charcot-Marie-Tooth disease, axonal, type 2F 3 +602195 HSPB1 Heat-shock 27kD protein-1 ENSG00000106211 HSPB1, HSP27, CMT2F, HMN2B Autosomal dominant 608634 Neuropathy, distal hereditary motor, type IIB 3 +600079 PTPN12 Protein tyrosine phosphatase, nonreceptor-type, 12 ENSG00000127947 PTPN12, PTPG1 114500 Colon cancer, somatic 3 +154276 Malignant hyperthermia susceptibility 3 MHS3 ?mutation in CACNA2 Autosomal dominant 154276 Malignant hyperthermia susceptibility 3 2 +612223 Stature quantitative trait locus 11 STQTL11 associated with rs2282978 612223 Stature QTL 11 2 +173510 CD36 CD36 antigen (collagen type I) ENSG00000135218 CD36, CHDS7, BDPLT10 610938 Coronary heart disease, susceptibility to, 7 3 +173510 CD36 CD36 antigen (collagen type I) ENSG00000135218 CD36, CHDS7, BDPLT10 Macrothrombocytopenia 1 +173510 CD36 CD36 antigen (collagen type I) ENSG00000135218 CD36, CHDS7, BDPLT10 611162 Malaria, cerebral, reduced risk of 3 +173510 CD36 CD36 antigen (collagen type I) ENSG00000135218 CD36, CHDS7, BDPLT10 611162 Malaria, cerebral, susceptibility to 3 +173510 CD36 CD36 antigen (collagen type I) ENSG00000135218 CD36, CHDS7, BDPLT10 Autosomal recessive 608404 Platelet glycoprotein IV deficiency 3 +142409 HGF Hepatic growth factor ENSG00000019991 HGF, DFNB39 Autosomal recessive 608265 Deafness, autosomal recessive 39 3 +604918 PCLO Piccolo, mouse, homolog of ENSG00000186472 PCLO, PCH3 mutation identified in 1 PCHD3 family Autosomal recessive 608027 ?Pontocerebellar hypoplasia, type 3 3 +608166 SEMA3E Semaphorin 3E ENSG00000170381 SEMA3E, SEMAH, KIAA0331 mutation identified in 1 CHARGE patient Autosomal dominant 214800 ?CHARGE syndrome 3 +603961 SEMA3A Semaphorin 3A ENSG00000075213 SEMA3A, SEMAD, COLL1, HH16 Autosomal dominant 614897 Hypogonadotropic hypogonadism 16 with or without anosmia 3 +171060 ABCB4 ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) ENSG00000005471 ABCB4, PGY3, MDR3, ICP3 within 500kb of MDR1 Autosomal recessive, Autosomal dominant 614972 Cholestasis, intrahepatic, of pregnancy, 3 3 +171060 ABCB4 ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) ENSG00000005471 ABCB4, PGY3, MDR3, ICP3 within 500kb of MDR1 Autosomal recessive 602347 Cholestasis, progressive familial intrahepatic 3 3 +171060 ABCB4 ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) ENSG00000005471 ABCB4, PGY3, MDR3, ICP3 within 500kb of MDR1 Autosomal recessive, Autosomal dominant 600803 Gallbladder disease 1 3 +171050 ABCB1 ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1) ENSG00000085563 ABCB1, PGY1, MDR1, IBD13, CLCs 120080 Colchicine resistance 3 +171050 ABCB1 ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1) ENSG00000085563 ABCB1, PGY1, MDR1, IBD13, CLCs 612244 Inflammatory bowel disease 13 3 +183600 Split hand/foot malformation (ectrodactyly) type 1 SHFM1, SHFD1, SHSF1 contiguous gene deletion syndrome Autosomal dominant 183600 Split hand/foot malformation 1 4 +604001 AKAP9 A-kinase anchor protein 9 ENSG00000127914 AKAP9, YOTIAO, AKAP450 mutation identified in 1 LQT11 family 611820 ?Long QT syndrome-11 3 +604214 KRIT1 KREV interaction trapped 1 ENSG00000001631 CCM1, CAM, KRIT1 Autosomal dominant 116860 Cavernous malformations of CNS and retina 3 +604214 KRIT1 KREV interaction trapped 1 ENSG00000001631 CCM1, CAM, KRIT1 Autosomal dominant 116860 Cerebral cavernous malformations-1 3 +604214 KRIT1 KREV interaction trapped 1 ENSG00000001631 CCM1, CAM, KRIT1 Autosomal dominant 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 3 +614518 GATAD1 GATA zinc finger domain-containing protein 1 ENSG00000157259 GATAD1, ODAG, CMD2B mutation identified in 1 GATAD1 family Autosomal recessive 614672 ?Cardiomyopathy, dilated, 2B 3 +602136 PEX1 Peroxisome biogenesis factor-1 ENSG00000127980 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 Autosomal recessive 234580 Heimler syndrome 1 3 +602136 PEX1 Peroxisome biogenesis factor-1 ENSG00000127980 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 Autosomal recessive 214100 Peroxisome biogenesis disorder 1A (Zellweger) 3 +602136 PEX1 Peroxisome biogenesis factor-1 ENSG00000127980 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 601539 Peroxisome biogenesis disorder 1B (NALD/IRD) 3 +603368 CDK6 Cyclin-dependent kinase 6 ENSG00000105810 CDK6, PLSTIRE, MCPH12 mutation identified in 1 MCPH12 family Autosomal recessive 616080 ?Microcephaly 12, primary, autosomal recessive 3 +610456 SAMD9 Sterile alpha motif domain-containing protein 9 ENSG00000205413 SAMD9, NFTC, MIRAGE Autosomal dominant 617053 MIRAGE syndrome 3 +610456 SAMD9 Sterile alpha motif domain-containing protein 9 ENSG00000205413 SAMD9, NFTC, MIRAGE Autosomal recessive 610455 Tumoral calcinosis, familial, normophosphatemic 3 +611170 SAMD9L Sterile alpha motif domain-containing 9-like ENSG00000177409 SAMD9L, ATXPC Autosomal dominant 159550 Ataxia-pancytopenia syndrome 3 +114131 CALCR Calcitonin receptor ENSG00000004948 CALCR, CRT not deleted in Williams syndrome Autosomal dominant 166710 Osteoporosis, postmenopausal, susceptibility 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal recessive 225320 Ehlers-Danlos syndrome, cardiac valvular form 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal dominant 130060 Ehlers-Danlos syndrome, type VIIB 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal dominant 166210 Osteogenesis imperfecta, type II 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal dominant 259420 Osteogenesis imperfecta, type III 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal dominant 166220 Osteogenesis imperfecta, type IV 3 +120160 COL1A2 Collagen I, alpha-2 polypeptide ENSG00000164692 COL1A2 ~17cM from CF Autosomal dominant 166710 Osteoporosis, postmenopausal 3 +604149 SGCE Sarcoglycan, epsilon ENSG00000127990 SGCE, DYT11 pseudogene on 2q21; maternally imprinted Autosomal dominant 159900 Dystonia-11, myoclonic 3 +168820 PON1 Paraoxonase-1 ENSG00000005421 PON1, PON, ESA, MVCD5 Coronary artery disease, susceptibility to 3 +168820 PON1 Paraoxonase-1 ENSG00000005421 PON1, PON, ESA, MVCD5 Coronary artery spasm 2, susceptibility to 3 +168820 PON1 Paraoxonase-1 ENSG00000005421 PON1, PON, ESA, MVCD5 612633 Microvascular complications of diabetes 5 3 +168820 PON1 Paraoxonase-1 ENSG00000005421 PON1, PON, ESA, MVCD5 Organophosphate poisoning, sensitivity to 3 +602447 PON2 Paraoxonase-2 ENSG00000105854 PON2 Coronary artery disease, susceptibility to 3 +603859 SLC25A13 Solute carrier family 25 (mitochondrial carrier, citrin), member 13 ENSG00000004864 SLC25A13, CTLN2 Autosomal recessive 603471 Citrullinemia, adult-onset type II 3 +603859 SLC25A13 Solute carrier family 25 (mitochondrial carrier, citrin), member 13 ENSG00000004864 SLC25A13, CTLN2 Autosomal recessive 605814 Citrullinemia, type II, neonatal-onset 3 +600028 DLX5 Distal-less homeo box-5 ENSG00000105880 DLX5, SHFM1D mutation identified in 1 family Autosomal recessive 220600 ?Split-hand/foot malformation 1 with sensorineural hearing loss 3 +108370 ASNS Asparagine synthetase ENSG00000070669 ASNS, ASNSD temperature sensitive G1 mutant Autosomal recessive 615574 Asparagine synthetase deficiency 3 +209850 Autism, susceptibility to, 1 AUTS1 Isolated cases, Multifactorial 209850 Autism susceptibility 1 2 +191390 Inflammatory bowel disease 11 IBD11 associated with MUC3A Multifactorial 191390 Inflammatory bowel disease 11 2 +162820 NM Neutrophil migration, abnormal NM, NCR Autosomal dominant 162820 ?Neutrophil chemotactic response, abnormal 2 +608562 Polydactyly, postaxial, type A4 PAPA4 highest lod with D7S1799 608562 Polydactyly, postaxial, type A4 2 +607458 SCA18 Spinal cerebellar ataxia 18 SCA18, SMNA between D7S2418 and D7S1804 Autosomal dominant 607458 Spinocerebellar ataxia 18 2 +605325 CYP3A5 Cytochrome P450, subfamily IIIA, polypeptide 5 ENSG00000106258 CYP3A5, P450PCN3 Multifactorial 145500 Hypertension, salt-sensitive essential, susceptibility to 3 +602296 AP4M1 Adaptor-related protein complex 4, mu-1 subunit ENSG00000221838 AP4M1, SPG50, CPSQ3 Autosomal recessive 612936 Spastic paraplegia 50, autosomal recessive 3 +602955 TAF6 TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80kD ENSG00000106290 TAF6, TAF2E, TAFII80, ALYUS 617126 Alazami-Yuan syndrome 3 +608489 STAG3 Stromalin 3 ENSG00000066923 STAG3, POF8 Autosomal recessive 615723 Premature ovarian failure 8 3 +604720 TFR2 Transferrin receptor 2 ENSG00000106327 TFR2, HFE3 604250 Hemochromatosis, type 3 3 +133170 EPO Erythropoietin ENSG00000130427 EPO, MVCD2 close to COL1A2; no recombination 612623 Microvascular complications of diabetes 2 3 +100740 ACHE Acetylcholinesterase (YT blood group) ENSG00000087085 ACHE, YT blood group YT (112100) = epitope of ACHE 112100 Blood group, Yt system 3 +173360 SERPINE1 Plasminogen activator inhibitor, type I ENSG00000106366 PAI1, PLANH1, SERPINE1 Autosomal recessive, Autosomal dominant 613329 Plasminogen activator inhibitor-1 deficiency 3 +173360 SERPINE1 Plasminogen activator inhibitor, type I ENSG00000106366 PAI1, PLANH1, SERPINE1 Transcription of plasminogen activator inhibitor, modulator of 3 +603531 AP1S1 Adaptor-related protein complex 1, sigma 1 subunit ENSG00000106367 AP1S1, CLAPS1, AP19, MEDNIK Autosomal recessive 609313 MEDNIK syndrome 3 +603066 PLOD3 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (lysyl hydroxylase 3) ENSG00000106397 PLOD3, LH3 previously assigned to 7q36 Autosomal recessive 612394 Lysyl hydroxylase 3 deficiency 3 +604943 SLC26A5 Solute carrier family 26, member 5 ENSG00000170615 SLC26A5, PRES, DFNB61 mutation identified in 1 DFNB61 family Autosomal recessive 613865 ?Deafness, autosomal recessive 61 3 +600514 RELN Reelin ENSG00000189056 RELN, RL, LIS2, ETL7 Autosomal dominant 616436 Epilepsy, familial temporal lobe, 7 3 +600514 RELN Reelin ENSG00000189056 RELN, RL, LIS2, ETL7 Autosomal recessive 257320 Lissencephaly 2 (Norman-Roberts type) 3 +609915 CMD1Q Cardiomyopathy, dilated, 1Q CMD1Q between D7S2545 and D7S2554 609915 Cardiomyopathy, dilated, 1Q 2 +614646 Mean platelet volume quantitative trait locus 6 MPVQTL6 associated with rs342293 614646 Mean platelet volume QTL6 2 +606821 COG5 Component of oligomeric golgi complex 5 ENSG00000164597 COG5, GOLTC1, GTC90, CDG2I 613612 Congenital disorder of glycosylation, type IIi 3 +605646 SLC26A4 Solute carrier family 26 (sulfate transporter), member 4 ENSG00000091137 SLC26A4, PDS, DFNB4, EVA, TDH2B some patients have digenic mutations with FOXI1 Autosomal recessive 600791 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 3 +605646 SLC26A4 Solute carrier family 26 (sulfate transporter), member 4 ENSG00000091137 SLC26A4, PDS, DFNB4, EVA, TDH2B some patients have digenic mutations with FOXI1 Autosomal recessive 274600 Pendred syndrome 3 +126650 SLC26A3 Solute carrier family 26 (sulfate transporter), member 3 ENSG00000091138 SLC26A3, DRA, CLD 5' and close to PDS Autosomal recessive 214700 Diarrhea 1, secretory chloride, congenital 3 +611015 Autism, susceptibility to, 9 AUTS9 max lod near D7S530 611015 Autism, susceptibility to, 9 2 +603678 DFNB14 Deafness, autosomal recessive 14 DFNB14 ?same as DFNB17 Autosomal recessive 603678 Deafness, autosomal recessive 14 2 +603010 DFNB17 Deafness, autosomal recessive 17 DFNB17 Autosomal recessive 603010 Deafness, autosomal recessive 17 2 +238331 DLD Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex) ENSG00000091140 DLD, LAD, PHE3, DLDD Autosomal recessive 246900 Dihydrolipoamide dehydrogenase deficiency 3 +150240 LAMB1 Laminin, beta-1 ENSG00000091136 LAMB1, LIS5 Autosomal recessive 615191 Lissencephaly 5 3 +612123 PNPLA8 Patatin-like phospholipase domain-containing protein 8 ENSG00000135241 PNPLA8, MMLA mutation identified in 1 MMLA family Autosomal recessive 251950 ?Mitochondrial myopathy with lactic acidosis 3 +600917 PPP1R3A Protein phosphatase 1, regulatory subunit 3A ENSG00000154415 PPP1R3A, PPP1R3 Autosomal dominant 125853 Insulin resistance, severe, digenic 3 +605317 FOXP2 Forkhead box P2 ENSG00000128573 FOXP2, SPCH1, TNRC10, CAGH44 Autosomal dominant 602081 Speech-language disorder-1 3 +601047 CAV1 Caveolin-1 ENSG00000105974 CAV1, BSCL3, CGL3, PPH3, LCCNS mutation identified in 1 CGL3 family; mutation identified in 1 LCCNS family 612526 ?Lipodystrophy, congenital generalized, type 3 3 +601047 CAV1 Caveolin-1 ENSG00000105974 CAV1, BSCL3, CGL3, PPH3, LCCNS mutation identified in 1 CGL3 family; mutation identified in 1 LCCNS family Autosomal dominant 606721 ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 3 +601047 CAV1 Caveolin-1 ENSG00000105974 CAV1, BSCL3, CGL3, PPH3, LCCNS mutation identified in 1 CGL3 family; mutation identified in 1 LCCNS family Autosomal dominant 615343 Pulmonary hypertension, primary, 3 3 +164860 MET Oncogene MET ENSG00000105976 MET, DFNB97, OSFD mutation identified in 1 DFNB97 family Autosomal recessive 616705 ?Deafness, autosomal recessive 97 3 +164860 MET Oncogene MET ENSG00000105976 MET, DFNB97, OSFD mutation identified in 1 DFNB97 family 114550 Hepatocellular carcinoma, childhood type, somatic 3 +164860 MET Oncogene MET ENSG00000105976 MET, DFNB97, OSFD mutation identified in 1 DFNB97 family Autosomal dominant 607278 Osteofibrous dysplasia, susceptibility to 3 +164860 MET Oncogene MET ENSG00000105976 MET, DFNB97, OSFD mutation identified in 1 DFNB97 family 605074 Renal cell carcinoma, papillary, 1, familial and somatic 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Autosomal dominant 211400 Bronchiectasis with or without elevated sweat chloride 1, modifier of 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Autosomal recessive 277180 Congenital bilateral absence of vas deferens 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Autosomal recessive 219700 Cystic fibrosis 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Hypertrypsinemia, neonatal 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Autosomal dominant 167800 Pancreatitis, idiopathic 3 +602421 CFTR Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) ENSG00000001626 CFTR, ABCC7, CF, MRP7 distal and 5' to MET Sweat chloride elevation without CF 3 +606256 Stature quantitative trait locus 2 STQTL2 max lod at D7S195 606256 Stature QTL 2 2 +613138 TSPAN12 Tetraspanin 12 ENSG00000106025 TSPAN12, NET2, EVR5 Autosomal dominant 613310 Exudative vitreoretinopathy 5 3 +176891 PTPRZ1 Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide ENSG00000106278 PTPRZ1, PTP18 600263 H. pylori infection, susceptibility to 1 +605113 AASS Alpha-aminoadipic semialdehyde synthase ENSG00000008311 AASS Autosomal recessive 238700 Hyperlysinemia 3 +605113 AASS Alpha-aminoadipic semialdehyde synthase ENSG00000008311 AASS Autosomal recessive 268700 Saccharopinuria 1 +613301 FEZF1 FEZ family zinc finger protein 1 ENSG00000128610 FEZF1, FEZ, ZNF312B, HH22 Autosomal recessive 616030 Hypogonadotropic hypogonadism 22, with or without anosmia 3 +604867 TAS2R16 Taste receptor type 2, member 16 ENSG00000128519 TAS2R16, T2R16 Multifactorial 103780 Alcohol dependence 3 +606478 POT1 Protection of telomeres 1 ENSG00000128513 POT1, CMM10, GLM9 Autosomal dominant 616568 Glioma susceptibility 9 3 +606478 POT1 Protection of telomeres 1 ENSG00000128513 POT1, CMM10, GLM9 Autosomal dominant 615848 Melanoma, cutaneous malignant, susceptibility to, 10 3 +613063 Basal cell carcinoma, susceptibility to, 6 BCC6 associated with rs157935 613063 Basal cell carcinoma, susceptibility to, 6 2 +614220 Biliary cirrhosis, primary, 4 PBC4 associated with rs10488631 614220 Biliary cirrhosis, primary, 4 2 +609573 Photoparoxysmal response 3 PPR3 max lod at D7S1804 609573 Photoparoxysmal response 3 2 +613909 SCA32 Spinocerebellar ataxia 32 SCA32 between rs3847110 and rs2241728 Autosomal dominant 613909 Spinocerebellar ataxia 32 2 +167413 PAX4 Paired box homeotic gene-4 ENSG00000106331 PAX4, MODY9, KPD Autosomal dominant 612227 Diabetes mellitus, ketosis-prone, susceptibility to 3 +167413 PAX4 Paired box homeotic gene-4 ENSG00000106331 PAX4, MODY9, KPD Autosomal dominant 125853 Diabetes mellitus, type 2 3 +167413 PAX4 Paired box homeotic gene-4 ENSG00000106331 PAX4, MODY9, KPD 612225 Maturity-onset diabetes of the young, type IX 3 +164160 LEP Leptin (murine obesity homolog) ENSG00000174697 LEP, OB, LEPD in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel Autosomal recessive 614962 Obesity, morbid, due to leptin deficiency 3 +612074 RBM28 RNA-binding motif protein 28 ENSG00000106344 RBM28, ANES mutation identified in 1 ANES family Autosomal recessive 612079 ?Alopecia, neurologic defects, and endocrinopathy syndrome 3 +146690 IMPDH1 Inosine-5'-monophosphate dehydrogenase, type I ENSG00000106348 IMPDH1, RP10, LCA11 pseudogene on 16p13.13 613837 Leber congenital amaurosis 11 3 +146690 IMPDH1 Inosine-5'-monophosphate dehydrogenase, type I ENSG00000106348 IMPDH1, RP10, LCA11 pseudogene on 16p13.13 Autosomal dominant 180105 Retinitis pigmentosa 10 3 +613522 OPN1SW Blue cone pigment (opsin 1, short-wave-sensitive) ENSG00000128617 OPN1SW, BCP, CBT Autosomal dominant 190900 Colorblindness, tritan 3 +102565 FLNC Filamin C (actin-binding protein-280) ENSG00000128591 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Cardiomyopathy, familial hypertrophic, 26 3 +102565 FLNC Filamin C (actin-binding protein-280) ENSG00000128591 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Autosomal dominant 617047 Cardiomyopathy, familial restrictive 5 3 +102565 FLNC Filamin C (actin-binding protein-280) ENSG00000128591 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Autosomal dominant 614065 Myopathy, distal, 4 3 +102565 FLNC Filamin C (actin-binding protein-280) ENSG00000128591 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Autosomal dominant 609524 Myopathy, myofibrillar, 5 3 +607218 IRF5 Interferon regulatory factor 5 ENSG00000128604 IRF5, IBD14, SLEB10 612245 Inflammatory bowel disease 14 3 +607218 IRF5 Interferon regulatory factor 5 ENSG00000128604 IRF5, IBD14, SLEB10 612251 Systemic lupus erythematosus, susceptibility to, 10 3 +610032 TNPO3 Transportin 3 ENSG00000064419 TNPO3, TRNSR, LGMD1F Autosomal dominant 608423 Muscular dystrophy, limb-girdle, type 1F 3 +601500 SMO Smoothened, Drosophila, homolog of ENSG00000128602 SMOH, SMO, CRJS 605462 Basal cell carcinoma, somatic 3 +601500 SMO Smoothened, Drosophila, homolog of ENSG00000128602 SMOH, SMO, CRJS 601707 Curry-Jones syndrome, somatic mosaic 3 +146450 Hypospadias 3, autosomal HYSP3 between D7S2519 and D7S2442. Autosomal dominant, Multifactorial 146450 Hypospadias 3, autosomal 2 +611606 MIR96 Micro RNA 96 ENSG00000199158 MIR96, MIRN96, DFNA50 Autosomal dominant 613074 Deafness, autosomal dominant 50 3 +610523 CEP41 Centrosomal protein, 41kD ENSG00000106477 CEP41, TSGA14, JBTS15 Autosomal recessive 614464 Joubert syndrome 15 3 +606641 BMIQ1 Body mass index quantitative trait locus 1 BMIQ1 max lod at D7S1804 606641 Body mass index QTL1 2 +613896 BPGM 2,3-bisphosphoglycerate mutase ENSG00000172331 BPGM Autosomal recessive 222800 Erythrocytosis due to bisphosphoglycerate mutase deficiency 3 +614352 NUP205 Nucleoporin, 205kD ENSG00000155561 NUP205, C7orf14, KIAA0225, NPHS13 mutation identified in 1 NPHS13 family 616893 ?Nephrotic syndrome, type 13 3 +604741 AKR1D1 Bile acid synthesis defect, congenital, 2 ENSG00000122787 AKR1D1, SRD5B1, CBAS2 Autosomal recessive 235555 Bile acid synthesis defect, congenital, 2 3 +603098 DFNB13 Deafness, autosomal recessive 13 DFNB13 Autosomal recessive 603098 Deafness, autosomal recessive 13 2 +182960 Neuronopathy, distal hereditary motor, type I DHMN1 between D7S2513 and D7S637 Autosomal dominant 182960 Neuronopathy, distal hereditary motor, type I 2 +605727 OTSC2 Otosclerosis 2 OTSC2 605727 Otosclerosis 2 2 +605239 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 ENSG00000105929 ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR 602722 Renal tubular acidosis, distal, autosomal recessive 3 +274180 TBXAS1 Thromboxane A synthase 1, platelet ENSG00000059377 TBXAS1, GHOSAL, CYP5, BDPLT14 Autosomal recessive 231095 Ghosal hematodiaphyseal syndrome 3 +274180 TBXAS1 Thromboxane A synthase 1, platelet ENSG00000059377 TBXAS1, GHOSAL, CYP5, BDPLT14 Autosomal dominant 614158 ?Thromboxane synthase deficiency 1 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q 211980 Adenocarcinoma of lung, somatic 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q Autosomal dominant 115150 Cardiofaciocutaneous syndrome 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q Colorectal cancer, somatic 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q Autosomal dominant 613707 LEOPARD syndrome 3 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q Melanoma, malignant, somatic 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q Nonsmall cell lung cancer, somatic 3 +164757 BRAF Murine sarcoma viral (v-raf) oncogene homolog B1 ENSG00000157764 BRAF, NS7 pseudogene BRAF2 on Xq13 or 7q 613706 Noonan syndrome 7 3 +610345 AGK Acylglycerol kinase ENSG00000262327 AGK, MULK, MTDPS10, CATC5, CTRCT38 Autosomal recessive 614691 Cataract 38, autosomal recessive 3 +610345 AGK Acylglycerol kinase ENSG00000262327 AGK, MULK, MTDPS10, CATC5, CTRCT38 Autosomal recessive 212350 Sengers syndrome 3 +607751 TAS2R38 Taste receptor, type 2, member 38 ENSG00000257138 TAS2R38, T2R61, PTC Autosomal dominant 171200 Phenylthiocarbamide tasting 3 +276000 PRSS1 Protease, serine, 1 (trypsin 1) ENSG00000274247 PRSS1, TRY1 8 trypsinogen genes embedded in TCRB locus Autosomal dominant 167800 Pancreatitis, hereditary 3 +276000 PRSS1 Protease, serine, 1 (trypsin 1) ENSG00000274247 PRSS1, TRY1 8 trypsinogen genes embedded in TCRB locus Autosomal recessive 614044 Trypsinogen deficiency 1 +601564 PRSS2 Protease, serine, 2 (trypsin 2) ENSG00000275896 PRSS2, TRY2 Autosomal dominant 167800 Pancreatitis, chronic, protection against 3 +613883 KEL Kell blood group ENSG00000197993 KEL 110900 Blood group, Kell 3 +118425 CLCN1 Chloride channel-1, skeletal muscle ENSG00000188037 CLCN1 Autosomal dominant 160800 Myotonia congenita, dominant 3 +118425 CLCN1 Chloride channel-1, skeletal muscle ENSG00000188037 CLCN1 Autosomal recessive 255700 Myotonia congenita, recessive 3 +118425 CLCN1 Chloride channel-1, skeletal muscle ENSG00000188037 CLCN1 Myotonia levior, recessive 3 +600510 GPDS1 Glaucoma-related pigment dispersion syndrome-1 GPDS1, PDS1 Autosomal dominant 600510 Pigment dispersion syndrome 2 +612514 Specific language impairment 4 SLI4 612514 Specific language impairment 4 2 +610934 NOBOX Newborn ovary homeobox, mouse, homolog of ENSG00000106410 NOBOX, POF5 Autosomal dominant 611548 Premature ovarian failure 5 3 +606370 TPK1 Thiamine pyrophosphokinase ENSG00000196511 TPK1, THMD5 Autosomal recessive 614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 3 +604569 CNTNAP2 Contactin-associated protein-like 2 ENSG00000174469 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 612100 Autism susceptibility 15 3 +604569 CNTNAP2 Contactin-associated protein-like 2 ENSG00000174469 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 610042 Cortical dysplasia-focal epilepsy syndrome 3 +604569 CNTNAP2 Contactin-associated protein-like 2 ENSG00000174469 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 610042 Pitt-Hopkins like syndrome 1 3 +605967 Acropectoral syndrome ACRPS Autosomal dominant 605967 Acropectoral syndrome 2 +609636 Alzheimer disease-10 AD10 max lod with D7S798 Autosomal dominant 609636 Alzheimer disease-10 2 +611016 Autism, susceptibility to, 10 AUTS10 max lod at D7S483 611016 Autism, susceptibility to, 10 2 +601573 EZH2 Enhancer of zeste, Drosophila, homolog of, 2 ENSG00000106462 EZH2, EZH1, WVS pseudogene on 21q22 Autosomal dominant 277590 Weaver syndrome 3 +152427 KCNH2 Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) ENSG00000055118 KCNH2, LQT2, HERG, SQT1 Autosomal dominant 613688 Long QT syndrome 2 3 +152427 KCNH2 Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) ENSG00000055118 KCNH2, LQT2, HERG, SQT1 Autosomal dominant 613688 Long QT syndrome 2, acquired, susceptibility to 3 +152427 KCNH2 Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) ENSG00000055118 KCNH2, LQT2, HERG, SQT1 609620 Short QT syndrome 1 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Autosomal dominant 104300 Alzheimer disease, late-onset, susceptibility to 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Coronary artery spasm 1, susceptibility to 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Autosomal dominant 189800 Hypertension, pregnancy-induced 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Multifactorial 145500 Hypertension, susceptibility to 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Multifactorial 601367 Ischemic stroke, susceptibility to 3 +163729 NOS3 Nitric oxide synthase 3, endothelial cell ENSG00000164867 NOS3 Placental abruption 3 +123831 CDK5 Cyclin-dependent kinase 5 ENSG00000164885 CDK5, LIS7 mutation identified in 1 LIS7 family Autosomal recessive 616342 ?Lissencephaly 7 with cerebellar hypoplasia 3 +615054 ASB10 Ankyrin repeat- and SOCS box-containing protein 10 ENSG00000146926 ASB10, GLC1F 603383 Glaucoma 1, open angle, F 3 +602743 PRKAG2 Protein kinase, AMP-activated, noncatalytic, gamma-2 ENSG00000106617 PRKAG2, WPWS, CMH6 Autosomal dominant 600858 Cardiomyopathy, hypertrophic 6 3 +602743 PRKAG2 Protein kinase, AMP-activated, noncatalytic, gamma-2 ENSG00000106617 PRKAG2, WPWS, CMH6 Autosomal dominant 261740 Glycogen storage disease of heart, lethal congenital 3 +602743 PRKAG2 Protein kinase, AMP-activated, noncatalytic, gamma-2 ENSG00000106617 PRKAG2, WPWS, CMH6 ?Autosomal dominant 194200 Wolff-Parkinson-White syndrome 3 +126141 DPP6 Dipeptidylpeptidase VI ENSG00000282974 DPP6, VF2, MRD33 616311 Mental retardation, autosomal dominant 33 3 +126141 DPP6 Dipeptidylpeptidase VI ENSG00000282974 DPP6, VF2, MRD33 Autosomal dominant 612956 Ventricular fibrillation, paroxysmal familial, 2 3 +613959 Chromosome 7q36.3 duplication syndrome, 362kb SCZD16, C16DUPq36.3, DUP7q36.3 362kb duplication that includes VIPR2 613959 Schizophrenia 16 4 +600725 SHH Sonic hedgehog ENSG00000164690 SHH, HPE3, HLP3, SMMCI, MCOPCB5 separate from TPT1 Autosomal dominant 142945 Holoprosencephaly 3 3 +600725 SHH Sonic hedgehog ENSG00000164690 SHH, HPE3, HLP3, SMMCI, MCOPCB5 separate from TPT1 Autosomal dominant 611638 Microphthalmia with coloboma 5 3 +600725 SHH Sonic hedgehog ENSG00000164690 SHH, HPE3, HLP3, SMMCI, MCOPCB5 separate from TPT1 269160 Schizencephaly 3 +600725 SHH Sonic hedgehog ENSG00000164690 SHH, HPE3, HLP3, SMMCI, MCOPCB5 separate from TPT1 Autosomal dominant 147250 Single median maxillary central incisor 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal recessive 200500 Acheiropody 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 188740 Hypoplastic or aplastic tibia with polydactyly 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 135750 Laurin-Sandrow syndrome 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 174500 Polydactyly, preaxial type II 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 186200 Syndactyly, type IV 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 174500 Triphalangeal thumb, type I 3 +605522 LMBR1 Limb region 1, mouse, homolog of ENSG00000105983 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Autosomal dominant 174500 Triphalangeal thumb-polysyndactyly syndrome 3 +142994 MNX1 Motor neuron and pancreas homeobox 1 ENSG00000130675 MNX1, HLXB9, HOXHB9, SCRA1 Autosomal dominant 176450 Currarino syndrome 3 +611332 DNAJB6 DNAJ/HSP40 homolog, subfamily B, member 6 ENSG00000105993 DNAJB6, MRJ, DJ4, LGMD1E previously assigned to 11q25 Autosomal dominant 603511 Muscular dystrophy, limb-girdle, type 1E 3 +615462 WDR60 WD repeat containing protein 60 ENSG00000126870 WDR60, SRTD8, SRPS6 Autosomal recessive 615503 Short-rib thoracic dysplasia 8 with or without polydactyly 3 +608391 AIS2 Autoimmune disease, susceptibility to, 2 AIS2, VAMAS3 608391 Autoimmune disease, susceptibility to, 2 2 +606129 Diamond-Blackfan anemia 2 DBA2 606129 Diamond-Blackfan anemia 2 2 +612279 Generalized epilepsy with febrile seizures plus, type 6 GEFSP6 between D8S1706 and D8S549 612279 Epilepsy, generalized, with febrile seizures plus, type 6 2 +148370 KWE Keratolytic winter erythema KWE Autosomal dominant 148370 Keratolytic winter erythema 2 +609259 MYP10 Myopia 10 MYP10 Multifactorial 609259 Myopia 10 2 +606662 Waardenburg syndrome, type 2C WS2C 606662 Waardenburg syndrome, type 2C 2 +607837 CLN8 CLN8 gene ENSG00000182372 CLN8, EPMR Autosomal recessive 600143 Ceroid lipofuscinosis, neuronal, 8 3 +607837 CLN8 CLN8 gene ENSG00000182372 CLN8, EPMR Autosomal recessive 610003 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 3 +608136 ARHGEF10 Rho guanine nucleotide exchange factor 10 ENSG00000274726 ARHGEF10, KIAA0294, SNCV mutation identified in 1 SNCV family Autosomal dominant 608236 ?Slowed nerve conduction velocity, AD 3 +222400 Hernia, congenital diaphragmatic 2 DIH2 Autosomal recessive 222400 Hernia, congenital diaphragmatic 2 2 +612254 Systemic lupus erythematosus, susceptibility to, 12 SLEB12 associated with rs13277113 612254 Systemic lupus erythematosus, susceptibility to, 12 2 +607117 MCPH1 Microcephalin ENSG00000147316 MCPH1 genetic heterogeneity Autosomal recessive 251200 Microcephaly 1, primary, autosomal recessive 3 +605352 MFHAS1 Malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats-1 ENSG00000147324 MFHAS1, MASL1 605352 Malignant fibrous histiocytoma 2 +608581 RP1L1 RP1-like protein 1 ENSG00000183638 RP1L1 Autosomal dominant 613587 Occult macular dystrophy 3 +191305 BLK BLK nonreceptor tyrosine kinase ENSG00000136573 BLK, MODY11 Autosomal dominant 613375 Maturity-onset diabetes of the young, type 11 3 +600576 GATA4 GATA-binding protein-4 ENSG00000136574 GATA4, ASD2, VSD1, TACHD, TOF mutations identified in 1 TACHD family Autosomal dominant 607941 Atrial septal defect 2 3 +600576 GATA4 GATA-binding protein-4 ENSG00000136574 GATA4, ASD2, VSD1, TACHD, TOF mutations identified in 1 TACHD family Autosomal dominant 614430 Atrioventricular septal defect 4 3 +600576 GATA4 GATA-binding protein-4 ENSG00000136574 GATA4, ASD2, VSD1, TACHD, TOF mutations identified in 1 TACHD family Autosomal dominant 615542 ?Testicular anomalies with or without congenital heart disease 3 +600576 GATA4 GATA-binding protein-4 ENSG00000136574 GATA4, ASD2, VSD1, TACHD, TOF mutations identified in 1 TACHD family Autosomal dominant 187500 Tetralogy of Fallot 3 +600576 GATA4 GATA-binding protein-4 ENSG00000136574 GATA4, ASD2, VSD1, TACHD, TOF mutations identified in 1 TACHD family Autosomal dominant 614429 Ventricular septal defect 1 3 +614252 Aneurysm, intracranial berry, 11 ANIB11 max lod at D8S552 614252 Aneurysm, intracranial berry, 11 2 +612030 Coronary heart disease, susceptibility to, 9 CHDS9 max lod at D8S1106 612030 Coronary heart disease, susceptibility to, 9 2 +612789 DFNB71 Deafness, autosomal recessive 71 DFNB71 max lod at D8S261 Autosomal recessive 612789 Deafness, autosomal recessive 71 2 +610099 Myopathy, distal 3 MPD3 possible locus on 12q13-q22 Autosomal dominant 610099 Myopathy, distal 3 2 +604258 DLC1 Deleted in liver cancer 1 ENSG00000164741 DLC1 114500 Colorectal cancer, somatic 3 +601385 TUSC3 Tumor suppressor candidate 3 ENSG00000104723 TUSC3, M33, D8S1992, MRT7, MRT22 Autosomal recessive 611093 Mental retardation, autosomal recessive 7 3 +153622 MSR1 Macrophage scavenger receptor ENSG00000038945 MSR1, SCARA1, SRA ~11cM distal to LPL 614266 Barrett esophagus/esophageal adenocarcinoma 3 +153622 MSR1 Macrophage scavenger receptor ENSG00000038945 MSR1, SCARA1, SRA ~11cM distal to LPL Autosomal dominant 176807 Prostate cancer, hereditary 3 +605558 FGF20 Fibroblast growth factor-20 ENSG00000078579 FGF20, RHDA2 mutation identified in 1 RHDA2 family Autosomal recessive 615721 ?Renal hypodysplasia/aplasia 2 3 +609927 VPS37A Vacuolar protein sorting 37A ENSG00000155975 VPS37A, HCRP1, SPG53 Autosomal recessive 614898 Spastic paraplegia 53, autosomal recessive 3 +604584 PDGFRL Platelet-derived growth factor receptor-like ENSG00000104213 PDGFRL, PDGRL, PRLTS 114500 Colorectal cancer, somatic 3 +604584 PDGFRL Platelet-derived growth factor receptor-like ENSG00000104213 PDGFRL, PDGRL, PRLTS 114550 Hepatocellular cancer, somatic 3 +613468 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 ENSG00000104763 ASAH1, AC, SMAPME Autosomal recessive 228000 Farber lipogranulomatosis 3 +613468 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 ENSG00000104763 ASAH1, AC, SMAPME Autosomal recessive 159950 Spinal muscular atrophy with progressive myoclonic epilepsy 3 +612182 NAT2 Arylamine N-acetyltransferase-2 ENSG00000156006 NAT2, AAC2 acetylation polymorphism Autosomal recessive 243400 Acetylation, slow 3 +603013 SCZD6 Schizophrenia susceptibility locus, chromosome 8p-related SCZD6 ?neuregulin 1 Autosomal dominant 181500 Schizophrenia 2 +609708 LPL Lipoprotein lipase ENSG00000175445 LPL, LIPD, HDLCQ11 Autosomal dominant 144250 Combined hyperlipidemia, familial 3 +609708 LPL Lipoprotein lipase ENSG00000175445 LPL, LIPD, HDLCQ11 High density lipoprotein cholesterol level QTL 11 3 +609708 LPL Lipoprotein lipase ENSG00000175445 LPL, LIPD, HDLCQ11 Autosomal recessive 238600 Lipoprotein lipase deficiency 3 +606939 ATP6V1B2 ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2 ENSG00000147416 ATP6B1B2, ATP6B2, VPP3, DOOD, ZLS2 Autosomal dominant 124480 Deafness, congenital, with onychodystrophy, autosomal dominant 3 +606939 ATP6V1B2 ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2 ENSG00000147416 ATP6B1B2, ATP6B2, VPP3, DOOD, ZLS2 Autosomal dominant 616455 Zimmermann-Laband syndrome 2 3 +606551 LZTS1 Leucine zipper, putative tumor suppressor 1 ENSG00000061337 LZTS1, F37, FEZ1 Autosomal dominant 133239 Esophageal squamous cell carcinoma 3 +603725 FGF17 Fibroblast growth factor 17 ENSG00000158815 FGF17, HH20 Autosomal dominant 615270 Hypogonadotropic hypogonadism 20 with or without anosmia 3 +602302 HR Hairless, mouse, homolog of ENSG00000168453 HR, AU, MUHH1, HYPT4 Autosomal recessive 203655 Alopecia universalis 3 +602302 HR Hairless, mouse, homolog of ENSG00000168453 HR, AU, MUHH1, HYPT4 Autosomal recessive 209500 Atrichia with papular lesions 3 +602302 HR Hairless, mouse, homolog of ENSG00000168453 HR, AU, MUHH1, HYPT4 Autosomal dominant 146550 Hypotrichosis 4 3 +178620 SFTPC Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C) ENSG00000168484 SFTPC, SFTP2, SMDP2 Autosomal dominant 610913 Surfactant metabolism dysfunction, pulmonary, 2 3 +112264 BMP1 Bone morphogenetic protein-1 ENSG00000168487 BMP1, OI13 1kb 3' to SFTP2 Autosomal recessive 614856 Osteogenesis imperfecta, type XIII 3 +608736 SLC39A14 Solute carrier family 39 (zinc transporter), member 14 ENSG00000104635 SLC39A14, ZIP14, KIAA0062, HMNDYT2 Autosomal recessive 617013 Hypermanganesemia with dystonia 2 3 +603612 TNFRSF10B Tumor necrosis factor receptor superfamily, member 10B ENSG00000120889 TNFRSF10B, DR5, TRAILR2 Autosomal recessive 275355 Squamous cell carcinoma, head and neck 3 +611770 NKX2-6 NK2, Drosophila, homolog of, 6 ENSG00000180053 NKX2-6, CSX2, CTHM 217095 Conotruncal heart malformations 3 +611770 NKX2-6 NK2, Drosophila, homolog of, 6 ENSG00000180053 NKX2-6, CSX2, CTHM 217095 Persistent truncus arteriosus 3 +162280 NEFL Neurofilament, light polypeptide ENSG00000277586 NEFL, CMT2E, CMT1F Autosomal recessive, Autosomal dominant 607734 Charcot-Marie-Tooth disease, type 1F 3 +162280 NEFL Neurofilament, light polypeptide ENSG00000277586 NEFL, CMT2E, CMT1F Autosomal dominant 607684 Charcot-Marie-Tooth disease, type 2E 3 +152760 GNRH1 Gonadotropin-releasing hormone-1 (leutinizing-releasing hormone) ENSG00000147437 GNRH1, LNRH, HH12 mutation identified in 1 HH12 family Autosomal recessive 614841 ?Hypogonadotropic hypogonadism 12 with or without anosmia 3 +118502 CHRNA2 Cholinergic receptor, nicotinic, alpha polypeptide-2 ENSG00000120903 CHRNA2 Autosomal dominant 610353 Epilepsy, nocturnal frontal lobe, type 4 3 +132811 EPHX2 Epoxide hydrolase 2, cytoplasmic ENSG00000120915 EPHX2 Autosomal dominant 143890 Hypercholesterolemia, familial, due to LDLR defect, modifier of 3 +240400 GULOP Gulonolactone (L-) oxidase pseudogene GULOP, GULO Scurvy 3 +611945 SPG37 Spastic paraplegia 37 SPG37 max lod at D8S601 Autosomal dominant 611945 Spastic paraplegia 37, autosomal dominant 2 +609353 ESCO2 Establishment of cohesion 1, S. cerevisiae, homolog of, 2 ENSG00000171320 ESCO2 Autosomal recessive 268300 Roberts syndrome 3 +609353 ESCO2 Establishment of cohesion 1, S. cerevisiae, homolog of, 2 ENSG00000171320 ESCO2 Autosomal recessive 269000 SC phocomelia syndrome 3 +611073 Alzheimer disease 12 AD12 max lod at D8S1119 611073 Alzheimer disease 12 2 +612348 Thrombophilia due to decreased release of tissue plasminogen activator THPH9 ?Thrombophilia due to decreased release of tissue plasminogen 1 +189964 GTF2E2 General transcription factor IIE, polypeptide 2, beta subunit, 34kD ENSG00000197265 GTF2E2, TTD6 Autosomal recessive 616943 Trichothiodystrophy 6, nonphotosensitive 3 +138300 GSR Glutathione reductase ENSG00000104687 GSR Hemolytic anemia due to glutathione reductase deficiency 1 +604611 WRN DNA helicase, RecQ-like 2 ENSG00000165392 RECQL2, RECQ3, WRN Autosomal recessive 277700 Werner syndrome 3 +142445 NRG1 Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator) ENSG00000157168 NRG1, HGL, HRGA, ARIA 603013 ?Schizophrenia, susceptibility to 1 +614426 TTI2 TELO2-interacting protein 2 ENSG00000129696 TTI2, C8orf41, MRT39 Autosomal recessive 615541 Mental retardation, autosomal recessive 39 3 +613523 Chromosome 8p11 myeloproliferative syndrome (stem cell leukemia/lymphoma) SCLL translocation of FGFR1 (8p11) and various partners 613523 Chromosome 8p11 myeloproliferative syndrome 4 +611605 ERLIN2 Endoplasmic reticulum lipid raft-associated protein 2 ENSG00000147475 ERLIN2, SPFH2, C8orf2, SPG18 Autosomal recessive 611225 Spastic paraplegia 18, autosomal recessive 3 +109691 ADRB3 Adrenergic, beta-3-, receptor ENSG00000188778 ADRB3 Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, susceptibility to 3 +600617 STAR Steroidogenic acute regulatory protein ENSG00000147465 STAR Autosomal recessive 201710 Lipoid adrenal hyperplasia 3 +615003 DDHD2 DDHD domain-containing protein 2 ENSG00000085788 DDHD2, KIAA0725, SPG54 Autosomal recessive 615033 Spastic paraplegia 54, autosomal recessive 3 +607083 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 ENSG00000147548 WHSC1L1, NSD3 pseudogene on 17q21; fusion partner with NUP98 in AML Autosomal dominant 601626 Leukemia, acute myeloid 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Somatic mosaicism 613001 Encephalocraniocutaneous lipomatosis 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 615465 Hartsfield syndrome 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 147950 Hypogonadotropic hypogonadism 2 with or without anosmia 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 123150 Jackson-Weiss syndrome 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 166250 Osteoglophonic dysplasia 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 101600 Pfeiffer syndrome 3 +136350 FGFR1 Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) ENSG00000077782 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL fused with BCR, CEP1, FOP, FIM in hematologic malignancies Autosomal dominant 190440 Trigonocephaly 1 3 +602713 ADAM9 A disintegrin and metalloproteinase domain 9 ENSG00000168615 ADAM9, MDC9, MCMP, CORD9 612775 Cone-rod dystrophy 9 3 +612641 ANK1 Ankyrin-1, erythrocytic ENSG00000029534 ANK1, SPH1 Autosomal dominant 182900 Spherocytosis, type 1 3 +601408 KAT6A K(lysine) acetyltransferase 6A ENSG00000083168 KAT6A, MYST3, MOZ, ZNF220, MRD32 Autosomal dominant 616268 Mental retardation, autosomal dominant 32 3 +173370 PLAT Plasminogen activator, tissue type ENSG00000104368 PLAT, TPA 612348 Hyperfibrinolysis, familial, due to increased release of PLAT 1 +173370 PLAT Plasminogen activator, tissue type ENSG00000104368 PLAT, TPA 612348 Thrombophilia, familial, due to decreased release of PLAT 1 +603258 IKBKB Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, beta ENSG00000104365 IKBKB, NFKBIKB, IMD15 Autosomal recessive 615592 Immunodeficiency 15 3 +158378 SLC20A2 Solute carrier family 20, phosphate transporter, member 2 (murine leukemia virus, amphotropic, receptor for) ENSG00000168575 SLC20A2, MLVAR, GLVR2, IBGC1 Autosomal dominant 213600 Basal ganglia calcification, idiopathic, 1 3 +609520 THAP1 THAP domain-containing protein 1 ENSG00000131931 THAP1, DYT6 Autosomal dominant 602629 Dystonia 6, torsion 3 +614649 RNF170 RING finger protein 170 ENSG00000120925 RNF170, SNAX1 Autosomal dominant 608984 Ataxia, sensory, 1, autosomal dominant 3 +615247 POMK Protein-O-mannose kinase ENSG00000185900 POMK, SGK196, MDDGA12, MDDGC12 mutation in 1 MDDGC12 family has been reported Autosomal recessive 615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 3 +615247 POMK Protein-O-mannose kinase ENSG00000185900 POMK, SGK196, MDDGA12, MDDGC12 mutation in 1 MDDGC12 family has been reported Autosomal recessive 616094 ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 3 +610453 HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase ENSG00000165102 HGSNAT, TMEM76, MPS3C, RP73 Autosomal recessive 252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) 3 +610453 HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase ENSG00000165102 HGSNAT, TMEM76, MPS3C, RP73 Autosomal recessive 616544 Retinitis pigmentosa 73 3 +600668 CCAL1 Chondrocalcinosis 1 CCAL1 Autosomal dominant 600668 Chondrocalcinosis with early-onset osteoarthritis 2 +606789 Fetal hemoglobin quantitative trait locus 4 HBFQTL4 606789 Fetal hemoglobin quantitative trait locus 4 2 +128700 Preauricular fistulae, congenital PAFC between D8S532 and D8S279 Autosomal dominant 128700 ?Preauricular fistulae, congenital 2 +609197 Glucocorticoid deficiency 3 GCCD3, FGD3, GCCD2 between D8S285 and D8S1718 Autosomal recessive 609197 Glucocorticoid deficiency 3 2 +600899 PRKDC Protein kinase, DNA-activated, catalytic polypeptide (hyperradiosensitivity of murine SCID mutation, complementing-1) ENSG00000253729 PRKDC, HYRC1, DNPK1, IMD26 Autosomal recessive 615966 Immunodeficiency 26, with or without neurologic abnormalities 3 +602638 MCM4 Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4 ENSG00000104738 MCM4, NKGCD, NKCD Autosomal recessive 609981 Natural killer cell and glucocorticoid deficiency with DNA repair defect 3 +602150 SNAI2 snail, Drosophila, homolog of, 2 (Neural crest transcription factor SLUG) ENSG00000019549 SNAI2, SLUG, WS2D Autosomal dominant 172800 Piebaldism 3 +602150 SNAI2 snail, Drosophila, homolog of, 2 (Neural crest transcription factor SLUG) ENSG00000019549 SNAI2, SLUG, WS2D Autosomal recessive 608890 Waardenburg syndrome, type 2D 3 +606837 RB1CC1 RB1-inducible coiled-coil 1 ENSG00000023287 RB1CC1, CC1, KIAA0203 114480 Breast cancer, somatic 3 +610928 SOX17 SRY-box 17 ENSG00000164736 SOX17, VUR3 Autosomal dominant 613674 Vesicoureteral reflux 3 3 +603937 RP1 Oxygen-regulated photoreceptor protein-1 (retinitis pigmentosa-1) ENSG00000104237 RP1, ORP1 Autosomal recessive, Autosomal dominant 180100 Retinitis pigmentosa 1 3 +612587 Aneurysm, intracranial berry, 10 ANIB10 associated with rs10958409 612587 Aneurysm, intracranial berry, 10 2 +608765 Scoliosis, isolated, susceptibility to, 3 IS3 608765 Scoliosis, isolated, susceptibility to, 3 2 +611046 Mycobacterium tuberculosis, susceptibility to, 2 MTBS2 max lod at D8S1723 611046 Mycobacterium tuberculosis, susceptibility to, 2 2 +603026 PLAG1 Pleomorphic adenoma gene 1 ENSG00000181690 PLAG1, SGPA, PSA fused with CTNNB1 in SGPA 181030 Adenomas, salivary gland pleomorphic, somatic 3 +614010 IMPAD1 Inositol monophosphatase domain-containing protein 1 ENSG00000104331 IMPAD1, GPAPP, IMPA3 Autosomal recessive 614078 Chondrodysplasia with joint dislocations, GPAPP type 3 +114815 CA8 Carbonic anhydrase VIII ENSG00000178538 CA8, CALS, CARP, CAMRQ3 Autosomal recessive 613227 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 3 +600257 Bor-Duane hydrocephalus contiguous gene syndrome (chromosome 8q12.1-q21.2 deletion syndrome) DEL8q12q21, C8DELq12q21 Autosomal dominant 600257 Bor-Duane hydrocephalus contiguous gene syndrome 4 +123155 Hydrocephalus, autosomal dominant HDCPH1 Autosomal dominant 123155 ?Hydrocephalus, autosomal dominant 2 +608892 CHD7 Chromodomain helicase DNA binding protein 7 ENSG00000171316 CHD7, HH5 Autosomal dominant 214800 CHARGE syndrome 3 +608892 CHD7 Chromodomain helicase DNA binding protein 7 ENSG00000171316 CHD7, HH5 612370 Hypogonadotropic hypogonadism 5 with or without anosmia 3 +600582 ASPH Aspartate beta-hydroxylase (junctin; junctate) ENSG00000198363 ASPH, HAAH, FDLAB Autosomal recessive 601552 Traboulsi syndrome 3 +600415 TTPA Tocopherol, alpha, transfer protein ENSG00000137561 TTPA, TTP1, AVED Autosomal recessive 277460 Ataxia with isolated vitamin E deficiency 3 +603711 CYP7B1 Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 ENSG00000172817 CYP7B1, CBAS3, SPG5A Autosomal recessive 613812 Bile acid synthesis defect, congenital, 3 3 +603711 CYP7B1 Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 ENSG00000172817 CYP7B1, CBAS3, SPG5A Autosomal recessive 270800 Spastic paraplegia 5A, autosomal recessive 3 +607731 Charcot-Marie-Tooth disease, axonal, type 2H CMT2H between D8S1807 and D8S548 Autosomal recessive 607731 Charcot-Marie-Tooth disease, axonal, type 2H 2 +600383 Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome) DEL8q13, C8DELq13 contiguous gene deletion of SULF1 and SLCO5A1 Autosomal dominant 600383 Mesomelia-synostoses syndrome 4 +126800 DURS1 Duane retraction syndrome 1 DURS1, DUS Autosomal dominant 126800 Duane retraction syndrome 1 2 +121210 FEB1 Febrile seizures, familial, 1 FEB1 Autosomal dominant 121210 Febrile seizures, familial, 1 2 +611654 CSPP1 Centrosome spindle pole-associated protein 1 ENSG00000104218 CSPP1, CSPP, JBTS21 Autosomal recessive 615636 Joubert syndrome 21 3 +609562 CPA6 Carboxypeptidase A6 ENSG00000165078 CPA6, CPAH, ETL5, FEB11 Autosomal dominant 614417 Epilepsy, familial temporal lobe, 5 3 +609562 CPA6 Carboxypeptidase A6 ENSG00000165078 CPA6, CPAH, ETL5, FEB11 Autosomal recessive 614418 Febrile seizures, familial, 11 3 +601653 EYA1 Eyes absent, Drosophila, homolog of, 1 ENSG00000104313 EYA1, BOR, BOS1, OFC1 mutation identified in 1 OFC1 family Autosomal dominant 113650 Anterior segment anomalies with or without cataract 3 +601653 EYA1 Eyes absent, Drosophila, homolog of, 1 ENSG00000104313 EYA1, BOR, BOS1, OFC1 mutation identified in 1 OFC1 family Autosomal dominant 602588 Branchiootic syndrome 1 3 +601653 EYA1 Eyes absent, Drosophila, homolog of, 1 ENSG00000104313 EYA1, BOR, BOS1, OFC1 mutation identified in 1 OFC1 family Autosomal dominant 113650 Branchiootorenal syndrome 1, with or without cataracts 3 +601653 EYA1 Eyes absent, Drosophila, homolog of, 1 ENSG00000104313 EYA1, BOR, BOS1, OFC1 mutation identified in 1 OFC1 family Autosomal dominant 166780 ?Otofaciocervical syndrome 3 +614230 Chromosome 8q21.11 deletion syndrome DEL8q21.11, C8DELq21.11 contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239 Autosomal dominant, Isolated cases 614230 Chromosome 8q21.11 deletion syndrome 4 +258500 OPA6 Optic atrophy 6 OPA6 between D8S1702 and D8S1794 Autosomal recessive 258500 Optic atrophy 6 2 +604775 TRPA1 Transient receptor potential cation channel, subfamily A, member 1 (ankyrin-like protein with transmembrane domains 1) ENSG00000104321 TRPA1, ANKTM1, FEPS Autosomal dominant 615040 Episodic pain syndrome, familial 3 +612418 TMEM70 Transmembrane protein 70 ENSG00000175606 TMEM70, MC5DN2 Autosomal recessive 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 3 +605266 JPH1 Junctophilin 1 ENSG00000104369 JPH1, JP1, CMT2K mutation identified in 1 CMT2K family Autosomal recessive, Autosomal dominant 607831 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 3 +606598 GDAP1 Ganglioside-induced differentiation-associated protein 1 ENSG00000104381 GDAP1, CMT4A, CMT2K, CMTRIA Autosomal recessive, Autosomal dominant 607831 Charcot-Marie-Tooth disease, axonal, type 2K 3 +606598 GDAP1 Ganglioside-induced differentiation-associated protein 1 ENSG00000104381 GDAP1, CMT4A, CMT2K, CMTRIA Autosomal recessive 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 3 +606598 GDAP1 Ganglioside-induced differentiation-associated protein 1 ENSG00000104381 GDAP1, CMT4A, CMT2K, CMTRIA Autosomal recessive 608340 Charcot-Marie-Tooth disease, recessive intermediate, A 3 +606598 GDAP1 Ganglioside-induced differentiation-associated protein 1 ENSG00000104381 GDAP1, CMT4A, CMT2K, CMTRIA Autosomal recessive 214400 Charcot-Marie-Tooth disease, type 4A 3 +612578 Stature quantitative trait locus 15 STQTL15 associated with rs2220456 612578 Stature QTL 15 2 +606940 ZFHX4 Zinc finger homeobox 4 ENSG00000091656 ZFHX4, ZFH4 Autosomal dominant 178300 ?Ptosis, congenital 2 +170993 PEX2 Peroxisome biogenesis factor 2 ENSG00000164751 PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3 Autosomal recessive 614866 Peroxisome biogenesis disorder 5A (Zellweger) 3 +170993 PEX2 Peroxisome biogenesis factor 2 ENSG00000164751 PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3 Autosomal recessive 614867 Peroxisome biogenesis disorder 5B 3 +611492 CA2 Carbonic anhydrase II ENSG00000104267 CA2 CA1, CA2 linked in monkey and mouse Autosomal recessive 259730 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 3 +605080 CNGB3 Cyclic nucleotide-gated channel, beta-3 ENSG00000170289 CNGB3, ACHM3, ACHM1 Autosomal recessive 262300 Achromatopsia-3 3 +605080 CNGB3 Cyclic nucleotide-gated channel, beta-3 ENSG00000170289 CNGB3, ACHM3, ACHM1 Autosomal recessive 248200 Macular degeneration, juvenile 3 +602667 NBN Nibrin ENSG00000104320 NBN, NBS1 609135 Aplastic anemia 3 +602667 NBN Nibrin ENSG00000104320 NBN, NBS1 613065 Leukemia, acute lymphoblastic 3 +602667 NBN Nibrin ENSG00000104320 NBN, NBS1 Autosomal recessive 251260 Nijmegen breakage syndrome 3 +151200 Chromosome 8q22.1 duplication syndrome (Leri pleonosteosis) DUP8q22.1, C8DUPq22.1 duplication of 0.9-1.2 Mb on 8q22.1 Autosomal dominant 151200 Leri pleonosteosis chromosome duplication syndrome 4 +145701 HTC1 Hypertrichosis universalis congenita, Ambras type HTC1 Autosomal dominant 145701 ?Hypertrichosis universalis congenita, Ambras type 2 +608156 Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome) NMLFS, DEL8q22.1, C8DELq22.1 Autosomal recessive, Isolated cases 608156 Nablus mask-like facial syndrome 4 +609884 TMEM67 Transmembrane protein 67 (meckelin) ENSG00000164953 TMEM67, MKS3, JBTS6, NPHP11 Autosomal recessive 615991 Bardet-Biedl syndrome 14, modifier of 3 +609884 TMEM67 Transmembrane protein 67 (meckelin) ENSG00000164953 TMEM67, MKS3, JBTS6, NPHP11 Autosomal recessive 216360 COACH syndrome 3 +609884 TMEM67 Transmembrane protein 67 (meckelin) ENSG00000164953 TMEM67, MKS3, JBTS6, NPHP11 Autosomal recessive 610688 Joubert syndrome 6 3 +609884 TMEM67 Transmembrane protein 67 (meckelin) ENSG00000164953 TMEM67, MKS3, JBTS6, NPHP11 Autosomal recessive 607361 Meckel syndrome 3 3 +609884 TMEM67 Transmembrane protein 67 (meckelin) ENSG00000164953 TMEM67, MKS3, JBTS6, NPHP11 Autosomal recessive 613550 Nephronophthisis 11 3 +605993 PDP1 Pyruvate dehydrogenase phosphatase catalytic subunit 1 ENSG00000164951 PDP1, PPM2C, PDP1, PDPC Autosomal recessive 608782 Pyruvate dehydrogenase phosphatase deficiency 3 +604289 RAD54B RAD54, S. cerevisiae, homolog of, B ENSG00000197275 RAD54B 114500 Colon cancer, somatic 3 +604289 RAD54B RAD54, S. cerevisiae, homolog of, B ENSG00000197275 RAD54B 605027 Lymphoma, non-Hodgkin, somatic 3 +612392 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 ENSG00000156170 NDUFAF6, C8orf38 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +614477 C8orf37 Chromosome 8 open reading frame 37 ENSG00000156172 C8orf37, CORD16, RP64 Autosomal recessive 614500 Cone-rod dystrophy 16 3 +614477 C8orf37 Chromosome 8 open reading frame 37 ENSG00000156172 C8orf37, CORD16, RP64 Autosomal recessive 614500 Retinitis pigmentosa 64 3 +601147 GDF6 Growth/differentiation factor 6 ENSG00000156466 GDF6, MCOP4, KFS1, MCOPCB6, LCA17 Autosomal dominant 118100 Klippel-Feil syndrome 1, autosomal dominant 3 +601147 GDF6 Growth/differentiation factor 6 ENSG00000156466 GDF6, MCOP4, KFS1, MCOPCB6, LCA17 Autosomal recessive 615360 Leber congenital amaurosis 17 3 +601147 GDF6 Growth/differentiation factor 6 ENSG00000156466 GDF6, MCOP4, KFS1, MCOPCB6, LCA17 613703 Microphthalmia with coloboma 6, digenic 3 +601147 GDF6 Growth/differentiation factor 6 ENSG00000156466 GDF6, MCOP4, KFS1, MCOPCB6, LCA17 613094 Microphthalmia, isolated 4 3 +191330 UQCRB Ubiquinol-cytochrome c reductase binding protein ENSG00000156467 UQCRB, UQBP, QPC, MC3DN3 Autosomal recessive 615158 Mitochondrial complex III deficiency, nuclear type 3 3 +612792 PTDSS1 Phosphatidylserine synthase 1 ENSG00000156471 PTDSS1, PSS1, KIAA0024, LMHD Autosomal dominant 151050 Lenz-Majewski hyperostotic dwarfism 3 +607817 VPS13B Vacuolar protein sorting 13, yeast, homolog of, B ENSG00000132549 VPS13B, KIAA0532, COH1 Autosomal recessive 216550 Cohen syndrome 3 +603395 SPAG1 Sperm-associated antigen-1 ENSG00000104450 SPAG1, CILD28 Autosomal recessive 615505 Ciliary dyskinesia, primary, 28 3 +149000 Klippel-Trenaunay-Weber syndrome KTWS, KTS translocation with 14q13 Isolated cases 149000 Klippel-Trenaunay-Weber syndrome 2 +613318 Miyoshi muscular dystrophy 2 MMD2 max lod at D10S2325 613318 Miyoshi muscular dystrophy 2 2 +608576 GRHL2 Grainyhead-like 2 ENSG00000083307 GRHL2, TFCP2L3, DFNA28, ECTDS Autosomal dominant 608641 Deafness, autosomal dominant 28 3 +608576 GRHL2 Grainyhead-like 2 ENSG00000083307 GRHL2, TFCP2L3, DFNA28, ECTDS Autosomal recessive 616029 Ectodermal dysplasia/short stature syndrome 3 +604712 RRM2B Ribonucleotide reductase M2 B, TP53 inducible ENSG00000048392 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B Autosomal recessive 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 3 +604712 RRM2B Ribonucleotide reductase M2 B, TP53 inducible ENSG00000048392 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B Autosomal recessive 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 3 +604712 RRM2B Ribonucleotide reductase M2 B, TP53 inducible ENSG00000048392 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B Autosomal dominant 613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 3 +603409 FZD6 Frizzled, Drosophila, homolog of, 6 ENSG00000164930 FZD6, NDNC10 Autosomal recessive 614157 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) 3 +610635 CTHRC1 Collagen triple-helix repeat-containing protein 1 ENSG00000164932 CTHRC1 614266 Barrett esophagus/esophageal adenocarcinoma 3 +610815 SLC25A32 Solute carrier family 25 (mitochondrial carrier, folate), member 32 ENSG00000164933 SLC25A32, MFT, RREI mutation identified in 1 RREI patient Autosomal recessive 616839 ?Exercise intolerance, riboflavin-responsive 3 +613326 DPYS Dihydropyrimidinase ENSG00000147647 DPYS, DHP Autosomal recessive 222748 Dihydropyrimidinuria 3 +612231 Colorectal cancer, susceptibility to, 6 CRCS6 associated with rs16892766 612231 Colorectal cancer, susceptibility to, 6 2 +602429 GLC1D Glaucoma 1, open angle, D GLC1D 602429 Glaucoma 1D, primary open angle 2 +607053 High density lipoprotein cholesterol level QTL 2 HDLCQ2 607053 High density lipoprotein cholesterol level QTL 2 2 +140300 Hashimoto thyroiditis HT ?chr.12 Autosomal dominant 140300 Hashimoto thyroiditis 2 +612729 Lean body mass quantitative trait locus 1 LBMQTL1 associated with rs16892496 and rs7832552 612729 Lean body mass QTL 1 2 +611376 Mungan syndrome MGS between D8S1830 and D8S1799 Autosomal recessive 611376 Mungan syndrome 2 +608796 MYMY3 Moyamoya disease 3 MYMY3 max lod at D8S546 608796 Moyamoya disease 3 2 +603693 ZFPM2 Zinc finger protein, multitype 2 (friend of GATA2) ENSG00000169946 ZFPM2, FOG2, DIH3, SRXY9 610187 Diaphragmatic hernia 3 3 +603693 ZFPM2 Zinc finger protein, multitype 2 (friend of GATA2) ENSG00000169946 ZFPM2, FOG2, DIH3, SRXY9 Autosomal dominant 187500 Tetralogy of Fallot 3 +603693 ZFPM2 Zinc finger protein, multitype 2 (friend of GATA2) ENSG00000169946 ZFPM2, FOG2, DIH3, SRXY9 Autosomal dominant 616067 46XY sex reversal 9 3 +188545 TRHR Thyrotropin-releasing hormone receptor ENSG00000174417 TRHR Thyrotropin-releasing hormone resistance, generalized 3 +604386 TRPS1 Zinc finger transcription factor TRPS1 ENSG00000104447 TRPS1 Autosomal dominant 190350 Trichorhinophalangeal syndrome, type I 3 +604386 TRPS1 Zinc finger transcription factor TRPS1 ENSG00000104447 TRPS1 Autosomal dominant 190351 Trichorhinophalangeal syndrome, type III 3 +612113 Bone mineral density quantitative trait locus 10 BMND10 associated with rs6469804 and rs6993813 612113 Bone mineral density QTL 10 2 +610649 Bone size quantitative trait locus 3 BSZQTL3 610649 Bone size quantitative trait locus 3 2 +611469 Colorectal cancer, susceptibility to, 2 CRCS2 associated with rs7014346 611469 Colorectal cancer, susceptibility to, 2 2 +600131 ECA1 Epilepsy, childhood absence, 1 ECA1 Autosomal dominant 600131 Epilepsy, childhood absence, 1 2 +600669 EGI Epilespy, idiopathic generalized, susceptibility to 1 EIG1 ?same as EBN2 Autosomal dominant 600669 Epilepsy, idiopathic generalized, susceptibility to, 1 2 +601068 FCMTE1 Epilepsy, myoclonic, adult familial, 1 FAME1, BAFME1, MEBA Autosomal dominant 601068 Epilepsy, myoclonic, familial adult, 1 2 +611100 Prostate cancer, hereditary, 10 HPC10 strongest assoc. with rs1447295 611100 Prostate cancer, hereditary, 10 2 +275220 Tibial hemimelia THM Autosomal recessive 275220 ?Tibial hemimelia 2 +150230 Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome) TRPS2, LGCR, LGS contiguous gene syndrome involving TRPS1 and EXT1 Autosomal dominant 150230 Trichorhinophalangeal syndrome, type II 4 +606462 RAD21 Rad21, S. pombe, homolog of ENSG00000164754 RAD21, SCC1, NXP1, KIAA0078, CDLS4 Autosomal dominant 614701 Cornelia de Lange syndrome 4 3 +611145 SLC30A8 Solute carrier family 30 (zinc transporter), member 8 ENSG00000164756 SLC30A8, ZNT8 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, susceptibility to 3 +608177 EXT1 Exostosin 1 ENSG00000182197 EXT1 distal to TRPS1 Autosomal recessive 215300 Chondrosarcoma 3 +608177 EXT1 Exostosin 1 ENSG00000182197 EXT1 distal to TRPS1 Autosomal dominant 133700 Exostoses, multiple, type 1 3 +602643 TNFRSF11B Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin) ENSG00000164761 TNFRSF11B, OPG, OCIF, PDB5 Autosomal recessive 239000 Paget disease of bone 5, juvenile-onset 3 +604912 TAF2 TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD ENSG00000064313 TAF2, TAF2B, TAFII150, CIF150, MRT40 Autosomal recessive 615599 Mental retardation, autosomal recessive 40 3 +612448 Age-related hearing impairment 1 ARHI1 between rs3765212 and rs4601326 612448 Age-related hearing impairment 1 2 +614936 Keratoderma, palmoplantar, punctate type IB PPKP1B between D8S1804 and D8S1720 Autosomal dominant 614936 Keratoderma, palmoplantar, punctate type IB 2 +603046 RNF139 RING finger protein 139 ENSG00000170881 RNF139, TRC8, RCA1 144700 Renal cell carcinoma 3 +601445 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22) ENSG00000147684 NDUFB9, UQOR22 mutation identified in 1 family Autosomal recessive, X-linked dominant, Mitochondrial 252010 ?Mitochondrial complex I deficiency 3 +610657 KIAA0196 KIAA0196 gene ENSG00000164961 KIAA0196, SPG8, RTSC1 Autosomal recessive 220210 Ritscher-Schinzel syndrome 1 3 +610657 KIAA0196 KIAA0196 gene ENSG00000164961 KIAA0196, SPG8, RTSC1 Autosomal dominant 603563 Spastic paraplegia 8, autosomal dominant 3 +613032 Glioma susceptibility 7 GLM7 associated with rs55705857 613032 Glioma susceptibility 7 2 +190080 MYC Avian myelocytomatosis viral (v-myc) oncogene homolog ENSG00000136997 MYC cen-5'-3'-ter Isolated cases 113970 Burkitt lymphoma 3 +602232 KCNQ3 Potassium voltage-gated channel, KQT-like subfamily, member 3 ENSG00000184156 KCNQ3, EBN2, BFNC2 Autosomal dominant 121201 Seizures, benign neonatal, type 2 3 +614930 LRRC6 Leucine-rich repeat-containing protein 6 ENSG00000129295 LRRC6, LRTP, CILD19 Autosomal recessive 614935 Ciliary dyskinesia, primary, 19 3 +188450 TG Thyroglobulin ENSG00000042832 TG, AITD3, TDH3 distal to MYC 608175 Autoimmune thyroid disease, susceptibility to, 3 3 +188450 TG Thyroglobulin ENSG00000042832 TG, AITD3, TDH3 distal to MYC Autosomal recessive 274700 Thyroid dyshormonogenesis 3 3 +605262 NDRG1 N-myc downstream-regulated gene 1 ENSG00000104419 NDRG1, HMSNL, CMT4D Autosomal recessive 601455 Charcot-Marie-Tooth disease, type 4D 3 +610931 ZFAT Zinc finger gene in autoimmune thyroid disease 1 ENSG00000066827 ZFAT1, ZNF406, AITD3 608175 Autoimmune thyroid disease, susceptibility to, 3 3 +612858 Orofacial cleft 12 OFC12 associated with rs987525 612858 Orofacial cleft 12 2 +605874 KCNK9 Potassium channel, subfamily K, member 9 ENSG00000169427 KCNK9, TASK3 612292 Birk-Barel mental retardation dysmorphism syndrome 3 +611966 TRAPPC9 Trafficking protein particle complex 9 ENSG00000167632 TRAPPC9, NIBP, KIAA1882, MRT13 Autosomal recessive 613192 Mental retardation, autosomal recessive 13 3 +606119 SLURP1 Secreted LY6/uPAR-related protein 1 ENSG00000126233 SLURP1, MDM Autosomal recessive 248300 Meleda disease 3 +610613 CYP11B1 Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) ENSG00000160882 CYP11B1, P450C11, FHI chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like Autosomal recessive 202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 3 +610613 CYP11B1 Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) ENSG00000160882 CYP11B1, P450C11, FHI chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like Autosomal dominant 103900 Aldosteronism, glucocorticoid-remediable 3 +124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 ENSG00000179142 CYP11B2 Aldosterone to renin ratio raised 3 +124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 ENSG00000179142 CYP11B2 Autosomal recessive 203400 Hypoaldosteronism, congenital, due to CMO I deficiency 3 +124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 ENSG00000179142 CYP11B2 Autosomal recessive 610600 Hypoaldosteronism, congenital, due to CMO II deficiency 3 +124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 ENSG00000179142 CYP11B2 Low renin hypertension, susceptibility to 3 +612757 GPIHBP1 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 ENSG00000277494 GPIHBP1, HYPL1D Autosomal recessive 615947 Hyperlipoproteinemia, type 1D 3 +611927 FAM83H Family with sequence similarity 83, member H ENSG00000273889 FAM83H, AI3 Autosomal dominant 130900 Amelogenesis imperfecta, type III 3 +604819 PUF60 Poly-U-binding splicing factor, 60kD ENSG00000274081 PUF60, FIR, SIAHBP1, VRJS Autosomal dominant 615583 Verheij syndrome 3 +601282 PLEC Plectin 1 ENSG00000178209 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND mutation identified in 1 EBSND family Autosomal recessive 226670 Epidermolysis bullosa simplex with muscular dystrophy 3 +601282 PLEC Plectin 1 ENSG00000178209 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND mutation identified in 1 EBSND family Autosomal recessive 616487 ?Epidermolysis bullosa simplex with nail dystrophy 3 +601282 PLEC Plectin 1 ENSG00000178209 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND mutation identified in 1 EBSND family Autosomal recessive 612138 Epidermolysis bullosa simplex with pyloric atresia 3 +601282 PLEC Plectin 1 ENSG00000178209 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND mutation identified in 1 EBSND family Autosomal dominant 131950 Epidermolysis bullosa simplex, Ogna type 3 +601282 PLEC Plectin 1 ENSG00000178209 PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND mutation identified in 1 EBSND family Autosomal recessive 613723 Muscular dystrophy, limb-girdle, type 2Q 3 +614243 OPLAH 5-oxoprolinase (ATP-hydrolyzing) ENSG00000178814 OPLAH, OPLAHD Autosomal recessive 260005 5-oxoprolinase deficiency 3 +123980 CYC1 Cytochrome c1 ENSG00000179091 CYC1, MC3DN6 Autosomal recessive 615453 Mitochondrial complex III deficiency, nuclear type 6 3 +604900 DGAT1 Diacylglycerol O-acyltransferase 1 ENSG00000185000 DGAT1, ARGP1, DIAR7 mutation identified in 1 DIAR7 family Autosomal recessive 615863 ?Diarrhea 7 3 +607882 SLC52A2 Solute carrier family 52, riboflavin transporter, member 2 ENSG00000185803 SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2 Autosomal recessive 614707 Brown-Vialetto-Van Laere syndrome 2 3 +607059 SLC39A4 Solute carrier family 36 (zinc transporter), member 4 ENSG00000147804 SLC39A4, ZIP4 Autosomal recessive 201100 Acrodermatitis enteropathica 3 +603780 RECQL4 DNA helicase, RecQ-like 4 ENSG00000160957 RECQL4, RTS, RECQ4 Autosomal recessive 218600 Baller-Gerold syndrome 3 +603780 RECQL4 DNA helicase, RecQ-like 4 ENSG00000160957 RECQL4, RTS, RECQ4 Autosomal recessive 266280 RAPADILINO syndrome 3 +603780 RECQL4 DNA helicase, RecQ-like 4 ENSG00000160957 RECQL4, RTS, RECQ4 Autosomal recessive 268400 Rothmund-Thomson syndrome 3 +608392 AIS3 Autoimmune disease, susceptibility to, 3 AIS3, VAMAS4 608392 Autoimmune disease, susceptibility to, 3 2 +158170 Chromosome 9p deletion syndrome DEL9p, C9DELp Autosomal dominant 158170 Chromosome 9p deletion syndrome 4 +154230 Chromosome 9p24.3 deletion syndrome DEL9p24.3, C9DELp24.3, SRXY4 154230 46XY sex reversal 4 4 +606613 HDLCQ1 High density lipoprotein cholesterol level QTL 1 HDLCQ1 606613 High density lipoprotein cholesterol level QTL 1 2 +614113 Mental retardation, autosomal dominant 2 MRD2 2 patients reported with genomic deletion or rearrangement including disruption of DOCK8 Autosomal dominant 614113 Mental retardation, autosomal dominant 2 4 +610438 Restless legs syndrome, susceptibility to, 3 RLS3 associated with rs4626664 and rs1975197 610438 Restless legs syndrome 3 2 +611432 DOCK8 Dedicator of cytokinesis 8 ENSG00000107099 DOCK8 Autosomal recessive 243700 Hyper-IgE recurrent infection syndrome, autosomal recessive 3 +607704 KANK1 KN motif- and ankyrin repeat domain-containing protein 1 ENSG00000107104 KANK1, KANK, ANKRD15, KIAA0172, CPSQ2 612900 Cerebral palsy, spastic quadriplegic, 2 3 +600014 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ENSG00000080503 SMARCA2, SNF2L2, NCBRS Autosomal dominant 601358 Nicolaides-Baraitser syndrome 3 +192977 VLDLR Very low density lipoprotein receptor ENSG00000147852 VLDLR, CAMRQ1 Autosomal recessive 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 3 +607604 KCNV2 Potassium channel, voltage-gated, subfamily V, member 2 ENSG00000168263 KCNV2, KV11.1, RCD3B Autosomal recessive 610356 Retinal cone dystrophy 3B 3 +610192 GLIS3 GLIS family zinc finger protein 3 ENSG00000107249 GLIS3, ZNF515, NDH Autosomal recessive 610199 Diabetes mellitus, neonatal, with congenital hypothyroidism 3 +133550 SLC1A1 Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1) ENSG00000106688 SLC1A1, EAAC1, SCZD18, DCBXA mutation identified in 1 SCZD18 family Autosomal recessive 222730 Dicarboxylic aminoaciduria 3 +133550 SLC1A1 Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1) ENSG00000106688 SLC1A1, EAAC1, SCZD18, DCBXA mutation identified in 1 SCZD18 family 615232 ?Schizophrenia susceptibility 18 3 +613271 Corneal dystrophy, Fuchs endothelial, 7 FECD7, FCD4 max lod at D9S256 613271 Corneal dystrophy, Fuchs endothelial, 7 2 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 600800 Budd-Chiari syndrome, somatic 3 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 133100 Erythrocytosis, somatic 3 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 601626 Leukemia, acute myeloid, somatic 3 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 254450 Myelofibrosis, somatic 3 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 263300 Polycythemia vera, somatic 3 +147796 JAK2 Janus kinase 2 (a protein-tyrosine kinase) ENSG00000096968 JAK2, THCYT3 Autosomal dominant, Somatic mutation 614521 Thrombocythemia 3 3 +238300 GLDC Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) ENSG00000178445 GLDC, HYGN1, GCSP, GCE, NKH Autosomal recessive 605899 Glycine encephalopathy 3 +613685 DFNB83 Deafness, autosomal recessive 83 DFNB83 between rs4742645 and rs1471364 Autosomal recessive 613685 Deafness, autosomal recessive 83 2 +601992 FRDA2 Friedreich ataxia 2 FRDA2 Autosomal recessive 601992 Friedreich ataxia 2 2 +614208 Mental retardation, autosomal recessive 16 MRT16 between rs10738277 and rs12376565 Autosomal recessive 614208 Mental retardation, autosomal recessive 16 2 +115501 TYRP1 Tyrosinase-related protein 1 ENSG00000107165 TYRP1, CAS2, GP75, SHEP11 Autosomal recessive 203290 Albinism, oculocutaneous, type III 3 +115501 TYRP1 Tyrosinase-related protein 1 ENSG00000107165 TYRP1, CAS2, GP75, SHEP11 612271 Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) 3 +603785 MPDZ Multiple PDZ domain protein ENSG00000107186 MPDZ, MUPP1, HYC2 Autosomal recessive 615219 Hydrocephalus, nonsyndromic, autosomal recessive 2 3 +608652 DFNA47 Deafness, autosomal dominant 47 DFNA47, DFNB83 between D9S268 and D9S942; possibly allelic to DFNB83 Autosomal dominant 608652 Deafness, autosomal dominant 47 2 +247640 Lymphomatous acute lymphoblastic leukemia LALL Autosomal recessive 247640 Leukemia, acute lymphoblastic 2 +608944 FREM1 FRAS1-related extracellular matrix protein 1 ENSG00000164946 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 608980 Bifid nose with or without anorectal and renal anomalies 3 +608944 FREM1 FRAS1-related extracellular matrix protein 1 ENSG00000164946 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 Autosomal recessive 248450 Manitoba oculotrichoanal syndrome 3 +608944 FREM1 FRAS1-related extracellular matrix protein 1 ENSG00000164946 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 Autosomal dominant 614485 Trigonocephaly 2 3 +609790 Alzheimer disease 11 AD11 between D9S157 and D9S259 609790 Alzheimer disease-11 2 +611891 Aneurysm, familial abdominal 3 AAA3 associated with rs10757278 611891 Aneurysm, familial abdominal 3 2 +611892 Aneurysm, intracranial berry, 6 ANIB6 associated with rs10757278 611892 Aneurysm, intracranial berry, 6 2 +613062 Basal cell carcinoma, susceptibility to, 5 BCC5 associated with rs2151280 613062 Basal cell carcinoma, susceptibility to, 5 2 +611139 Coronary heart disease, susceptibility to, 8 CHDS8 strongest linkage with dbSNP rs1333049 611139 Coronary heart disease, susceptibility to, 8 2 +613030 Glioma susceptibility 5 GLM5 associated with rs4977756 613030 Glioma susceptibility 5 2 +612099 Trichoepithelioma, multiple familial, 2 MFT2, TEM max lod at D9S171 612099 Trichoepithelioma, multiple familial, 2 2 +147660 IFNA1 Interferon, alpha-1 ENSG00000197919 IFNA1, IFNA@ very close to IFF by Fd, LD; 15-30 genes Interferon, alpha, deficiency 1 +156540 MTAP Methylthioadenosine phosphorylase ENSG00000099810 MTAP, DMSMFH Autosomal dominant 112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 3 +600160 CDKN2A Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) ENSG00000147889 CDKN2A, MTS1, P16, MLM, CMM2 Autosomal dominant 155755 Melanoma and neural system tumor syndrome 3 +600160 CDKN2A Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) ENSG00000147889 CDKN2A, MTS1, P16, MLM, CMM2 Autosomal dominant 155601 Melanoma, cutaneous malignant, 2 3 +600160 CDKN2A Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) ENSG00000147889 CDKN2A, MTS1, P16, MLM, CMM2 Orolaryngeal cancer, multiple 3 +600160 CDKN2A Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) ENSG00000147889 CDKN2A, MTS1, P16, MLM, CMM2 Autosomal dominant 606719 Pancreatic cancer/melanoma syndrome 3 +608040 IFT74 Intraflagellar transport 74, Chlamydomonas, homolog of ENSG00000096872 IFT74, CCDC2, CMG1, BBS20 mutation identified in 1 BBS20 patient Autosomal recessive 617119 ?Bardet-Biedl syndrome 20 3 +600221 TEK TEK tyrosine kinase, endothelial ENSG00000120156 TEK, TIE2, VMCM Autosomal dominant 600195 Venous malformations, multiple cutaneous and mucosal 3 +614260 C9orf72 Chromosome 9 open reading frame 72 ENSG00000147894 C9orf72, FTDALS1, FTDALS, ALSFTD Autosomal dominant 105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 3 +609631 DDX58 DEAD box polypeptide 58 ENSG00000107201 DDX58, RIGI, SGMRT2 Autosomal dominant 616298 Singleton-Merten syndrome 2 3 +609507 TOPORS Topoisomerase I-binding arginine/serine-rich protein ENSG00000197579 TOPORS, P53BP3, LUN, RP31 609923 Retinitis pigmentosa 31 3 +606350 APTX Aprataxin ENSG00000137074 APTX, AOA, AOA1 Autosomal recessive 208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 3 +137060 B4GALT1 Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22) ENSG00000086062 B4GALT1, GGTB2, GT1, GTB, CDG2D Autosomal recessive 607091 Congenital disorder of glycosylation, type IId 3 +609403 Preeclampsia/eclampsia 3 PEE3 609403 Preeclampsia/eclampsia 3 2 +602974 AQP7 Aquaporin-7 ENSG00000165269 AQP7, GLYCQTL Autosomal recessive 614411 Glycerol quantitative trait locus 3 +600170 AQP3 Aquaporin-3 ENSG00000165272 AQP3 incorrectly mapped to chr.7 607457 Blood group GIL 3 +604366 DNAI1 Dynein, axonemal, intermediate chain 1 ENSG00000122735 DNAI1, CILD1, ICS, PCD Autosomal recessive 244400 Ciliary dyskinesia, primary, 1, with or without situs inversus 3 +601978 SIGMAR1 Sigma nonopioid intracellular receptor 1 ENSG00000147955 SIGMAR1, SRBP, ALS16, DSMA2 mutation identified in 1 ALS16 family and 1 DSMA2 family Autosomal recessive 614373 ?Amyotrophic lateral sclerosis 16, juvenile 3 +601978 SIGMAR1 Sigma nonopioid intracellular receptor 1 ENSG00000147955 SIGMAR1, SRBP, ALS16, DSMA2 mutation identified in 1 ALS16 family and 1 DSMA2 family Autosomal recessive 605726 ?Spinal muscular atrophy, distal, autosomal recessive, 2 3 +606999 GALT Galactose-1-phosphate uridyltransferase ENSG00000213930 GALT Autosomal recessive 230400 Galactosemia 3 +600939 IL11RA Interleukin-11 receptor, alpha ENSG00000137070 IL11RA, CRSDA Autosomal recessive 614188 Craniosynostosis and dental anomalies 3 +601023 VCP Valosin-containing protein ENSG00000165280 VCP, IBMPFD1, ALS14, CMT2Y 613954 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 3 +601023 VCP Valosin-containing protein ENSG00000165280 VCP, IBMPFD1, ALS14, CMT2Y Autosomal dominant 616687 Charcot-Marie-Tooth disease, type 2Y 3 +601023 VCP Valosin-containing protein ENSG00000165280 VCP, IBMPFD1, ALS14, CMT2Y Autosomal dominant 167320 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 3 +602956 FANCG X-ray repair, complementing defective, in Chinese hamster, 9 ENSG00000221829 XRCC9, FANCG 614082 Fanconi anemia, complementation group G 3 +614730 PIGO Phosphatidylinositol glycan, class O ENSG00000165282 PIGO, HPMRS2 Autosomal recessive 614749 Hyperphosphatasia with mental retardation syndrome 2 3 +157660 RMRP Mitochondrial RNA-processing endoribonuclease ENSG00000269900 RMRP, RMRPR, CHH Autosomal recessive 607095 Anauxetic dysplasia 3 +157660 RMRP Mitochondrial RNA-processing endoribonuclease ENSG00000269900 RMRP, RMRPR, CHH Autosomal recessive 250250 Cartilage-hair hypoplasia 3 +157660 RMRP Mitochondrial RNA-processing endoribonuclease ENSG00000269900 RMRP, RMRPR, CHH Autosomal recessive 250460 Metaphyseal dysplasia without hypotrichosis 3 +190990 TPM2 Tropomyosin-2, beta ENSG00000198467 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 Autosomal dominant 108120 Arthrogryposis multiplex congenita, distal, type 1 3 +190990 TPM2 Tropomyosin-2, beta ENSG00000198467 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 Autosomal dominant 601680 Arthrogryposis, distal, type 2B 3 +190990 TPM2 Tropomyosin-2, beta ENSG00000198467 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 Autosomal dominant 609285 CAP myopathy 2 3 +190990 TPM2 Tropomyosin-2, beta ENSG00000198467 TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 Autosomal dominant 609285 Nemaline myopathy 4, autosomal dominant 3 +609471 GBA2 Glucosidase, beta, acid 2 ENSG00000070610 GBA2, KIAA1605, SPG46 Autosomal recessive 614409 Spastic paraplegia 46, autosomal recessive 3 +108961 NPR2 Natiuretic peptide receptor 2 ENSG00000159899 NPR2, ANPRB, AMDM, ECDM, SNSK Autosomal recessive 602875 Acromesomelic dysplasia, Maroteaux type 3 +108961 NPR2 Natiuretic peptide receptor 2 ENSG00000159899 NPR2, ANPRB, AMDM, ECDM, SNSK Autosomal dominant 615923 Epiphyseal chondrodysplasia, Miura type 3 +108961 NPR2 Natiuretic peptide receptor 2 ENSG00000159899 NPR2, ANPRB, AMDM, ECDM, SNSK Autosomal dominant 616255 Short stature with nonspecific skeletal abnormalities 3 +603824 GNE UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ENSG00000159921 GNE, GLCNE, IBM2, DMRV, NM Autosomal recessive 605820 Nonaka myopathy 3 +603824 GNE UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ENSG00000159921 GNE, GLCNE, IBM2, DMRV, NM Autosomal dominant 269921 Sialuria 3 +167414 PAX5 Paired box homeotic gene-5 (B-cell lineage specific activator protein) ENSG00000196092 PAX5, BSAP, ALL3 615545 Leukemia, acute lymphoblastic, susceptibility to, 3 3 +604296 GRHPR Glyoxylate reductase/hydroxypyruvate reductase ENSG00000137106 GRHPR, GLXR Autosomal recessive 260000 Hyperoxaluria, primary, type II 3 +606489 EXOSC3 Exosome component 3 ENSG00000107371 EXOSC3, RRP40, PCH1B Autosomal recessive 614678 Pontocerebellar hypoplasia, type 1B 3 +612096 OTSC8 Otosclerosis 8 OTSC8 between D9S970 and D9S1799 Autosomal dominant 612096 Otosclerosis 8 2 +605388 CPAT1 Cerebral palsy, ataxic, autosomal recessive ACP Autosomal recessive 605388 Cerebral palsy, ataxic, autosomal recessive 2 +155900 MROS Melkersson-Rosenthal syndrome MROS Autosomal dominant 155900 ?Melkersson-Rosenthal syndrome 2 +609320 Hematocrit/hemoglobin quantitative trait locus 2 HCHGQ2 609320 Hematocrit/hemoglobin quantitative trait locus 2 2 +607152 SPG19 Spastic paraplegia-19 SPG19 Autosomal dominant 607152 Spastic paraplegia 19, autosomal dominant 2 +600884 CMD1B Cardiomyopathy, dilated-1B, autosomal dominant CMD1B, CMPD1, FDC Autosomal dominant 600884 Cardiomyopathy, dilated 1B 2 +605749 CTPL1 Cataract 26, multiple types CTRCT26, CAAR 605749 Cataract 26, multiple types 2 +190100 GSM1 Geniospasm 1 GSM1, GSP Autosomal dominant 190100 Geniospasm 2 +613558 Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome) DFNA51, C9DUPq21.11, DUP9q21.11 259kb duplication involving TJP2 and FAM189A2 Autosomal dominant 613558 Deafness, autosomal dominant 51 4 +611631 Epilepsy, familial temporal lobe, 4 ETL4, ETOLM between GATA152H04 and D9S253 Autosomal dominant 611631 Epilepsy, familial temporal lobe, 4 2 +613088 Pelvic organ prolapse, susceptibility to, 2 PVOP2 between rs4077632 and rs10868525 613088 Pelvic organ prolapse, susceptibility to, 2 2 +176893 PRKACG Protein kinase, cAMP-dependent, catalytic, gamma ENSG00000165059 PRKACG, BDPLT19 mutation identified in 1 BDPLT19 family Autosomal recessive 616176 ?Bleeding disorder, platelet-type, 19 3 +606829 FXN Frataxin ENSG00000165060 FXN, FRDA, FARR, X25 Autosomal recessive 229300 Friedreich ataxia 3 +606829 FXN Frataxin ENSG00000165060 FXN, FRDA, FARR, X25 Autosomal recessive 229300 Friedreich ataxia with retained reflexes 3 +607709 TJP2 Tight junction protein 2 ENSG00000119139 TJP2, ZO2, PFIC4 Autosomal recessive 615878 Cholestasis, progressive familial intrahepatic 4 3 +607709 TJP2 Tight junction protein 2 ENSG00000119139 TJP2, ZO2, PFIC4 607748 Hypercholanemia, familial 3 +610942 MIR204 Micro RNA 204 ENSG00000207935 MIR204, MIRN204, RDICC mutation identified in 1 RDICC family Autosomal dominant 616722 ?Retinal dystrophy and iris coloboma with or without cataract 3 +606706 TMC1 Transmembrane channel-like protein 1 ENSG00000165091 TMC1, DFNB7, DFNB11, DFNA36 Autosomal dominant 606705 Deafness, autosomal dominant 36 3 +606706 TMC1 Transmembrane channel-like protein 1 ENSG00000165091 TMC1, DFNB7, DFNB11, DFNA36 Autosomal recessive 600974 Deafness, autosomal recessive 7 3 +607009 TRPM6 Transient receptor potential cation channel, subfamily M, member 6 ENSG00000119121 TRPM6, CHAK2, HOMG1 Autosomal recessive 602014 Hypomagnesemia 1, intestinal 3 +605978 VPS13A Vacuolar protein sorting 13A (chorein) ENSG00000197969 VPS13A, CHAC Autosomal recessive 200150 Choreoacanthocytosis 3 +600998 GNAQ Guanine nucleotide-binding protein (G protein), q ENSG00000156052 GNAQ, SWS, CMC1 pseudogene on 2q 163000 Capillary malformations, congenital, 1, somatic, mosaic 3 +600998 GNAQ Guanine nucleotide-binding protein (G protein), q ENSG00000156052 GNAQ, SWS, CMC1 pseudogene on 2q 185300 Sturge-Weber syndrome, somatic, mosaic 3 +610936 PSAT1 Phosphoserine aminotransferase 1 ENSG00000135069 PSAT1, PSAT, EPIP, PSATD, NLS2 mutation identified in 1 PSATD family Autosomal recessive 616038 Neu-Laxova syndrome 2 3 +610936 PSAT1 Phosphoserine aminotransferase 1 ENSG00000135069 PSAT1, PSAT, EPIP, PSATD, NLS2 mutation identified in 1 PSATD family Autosomal recessive 610992 ?Phosphoserine aminotransferase deficiency 3 +267700 HPLH1 Hemophagocytic lymphohistiocytosis, familial, 1 FHL1, HPLH1, HLH1 Autosomal recessive 267700 Hemophagocytic lymphohistiocytosis, familial, 1 2 +600712 HNRNPK Heterogeneous nuclear ribonucleoprotein K ENSG00000165119 HNRNPK, HNRPK, AUKS Autosomal dominant 616580 Au-Kline syndrome 3 +600456 NTRK2 Neurotrophic tyrosine kinase, receptor, type 2 ENSG00000148053 NTRK2, TRKB mutation identified in 1 OBHD patient 613886 ?Obesity, hyperphagia, and developmental delay 3 +608695 GLC1J Glaucoma, primary open angle, juvenile-onset, 2 JOAG2 between D9S1803 and D9S196 608695 Glaucoma, primary open angle, juvenile-onset, 2 2 +610114 Stature quantitative trait locus 8 STQTL8 between GATA81C04M and ATA18A07M 610114 Stature QTL 8 2 +607693 SECISBP2 Selenocysteine insertion sequence-binding protein 2 ENSG00000187742 SECISBP2, SBP2 609698 Thyroid hormone metabolism, abnormal 3 +600529 AUH AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase) ENSG00000148090 AUH Autosomal recessive 250950 3-methylglutaconic aciduria, type I 3 +602337 ROR2 Receptor tyrosine kinase-like orphan receptor 2 ENSG00000169071 ROR2, BDB1, BDB, NTRKR2 Autosomal dominant 113000 Brachydactyly, type B1 3 +602337 ROR2 Receptor tyrosine kinase-like orphan receptor 2 ENSG00000169071 ROR2, BDB1, BDB, NTRKR2 Autosomal recessive 268310 Robinow syndrome, autosomal recessive 3 +605712 SPTLC1 Serine palmitoyltransferase, long-chain base subunit 1 ENSG00000090054 SPTLC1, LBC1, SPT1, HSN1, HSAN Autosomal dominant 162400 Neuropathy, hereditary sensory and autonomic, type IA 3 +600709 IARS Isoleucine-tRNA synthetase ENSG00000196305 IARS, GRIDHH Autosomal recessive 617093 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 3 +608135 ASPN Asporin ENSG00000106819 ASPN, PLAP1, OS3 603932 Lumbar disc degeneration 3 +608135 ASPN Asporin ENSG00000106819 ASPN, PLAP1, OS3 Autosomal dominant 607850 Osteoarthritis susceptibility 3 3 +609797 BICD2 Bicaudal D, Drosophila, homolog of, 2 ENSG00000185963 BICD2, KIAA0699, SMALED2 Autosomal dominant 615290 Spinal muscular atrophy, lower extremity-predominant, 2, AD 3 +611570 FBP1 Fructose-bisphosphatase 1 ENSG00000165140 FBP1 Autosomal recessive 229700 Fructose-1,6-bisphosphatase deficiency 3 +613899 FANCC Fanconi anemia, complementation group C ENSG00000158169 FANCC, FACC Autosomal recessive 227645 Fanconi anemia, complementation group C 3 +601309 PTCH1 Patched, Drosophila, homolog of ENSG00000185920 PTCH1, NBCCS, BCNS, HPE7 605462 Basal cell carcinoma, somatic 3 +601309 PTCH1 Patched, Drosophila, homolog of ENSG00000185920 PTCH1, NBCCS, BCNS, HPE7 Autosomal dominant 109400 Basal cell nevus syndrome 3 +601309 PTCH1 Patched, Drosophila, homolog of ENSG00000185920 PTCH1, NBCCS, BCNS, HPE7 Autosomal dominant 610828 Holoprosencephaly 7 3 +615667 ERCC6L2 ERCC6-like 2 ENSG00000182150 ERCC6L2, RAD26L, BMFS2 Autosomal recessive 615715 Bone marrow failure syndrome 2 3 +605573 HSD17B3 Hydroxysteroid (17-beta) dehydrogenase 3 ENSG00000130948 HSD17B3, EDH17B3 Autosomal recessive 264300 Pseudohermaphroditism, male, with gynecomastia 3 +611258 TDRD7 Tudor domain-containing protein 7 ENSG00000196116 TDRD7, KIAA1529, TRAP, CATC4, CTRCT36 613887 Cataract 36 3 +611153 XPA XPA complementing gene ENSG00000136936 XPA, XPAC Autosomal recessive 278700 Xeroderma pigmentosum, group A 3 +602617 FOXE1 Forkhead box E1 (thyroid transcription factor-2) ENSG00000178919 FOXE1, FKHL15, TITF2, TTF2, NMTC4 Autosomal recessive 241850 Bamforth-Lazarus syndrome 3 +602617 FOXE1 Forkhead box E1 (thyroid transcription factor-2) ENSG00000178919 FOXE1, FKHL15, TITF2, TTF2, NMTC4 Autosomal dominant 616534 Thyroid cancer, nonmedullary, 4 3 +605202 NANS N-acetylneuraminic acid synthase (sialic acid synthase) ENSG00000095380 NANS, SAS, SEMDCG Autosomal recessive 610442 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 3 +607340 GABBR2 G protein-coupled receptor 51 ENSG00000136928 GPR51, GABBR2 188890 Nicotine dependence, protection against 3 +607340 GABBR2 G protein-coupled receptor 51 ENSG00000136928 GPR51, GABBR2 188890 Nicotine dependence, susceptibility to 3 +615370 ANKS6 Ankyrin repeat and sterile alpha motif domains-containing protein 6 ENSG00000165138 ANKS6, PKDR1, NPHP16 Autosomal recessive 615382 Nephronophthisis 16 3 +610290 GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 ENSG00000119514 GALNT12, CRCS1 608812 Colorectal cancer, susceptibility to, 1 3 +190181 TGFBR1 Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) ENSG00000106799 TGFBR1, ALK5, AAT5, LDS1, MSSE Autosomal dominant 609192 Loeys-Dietz syndrome 1 3 +190181 TGFBR1 Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) ENSG00000106799 TGFBR1, ALK5, AAT5, LDS1, MSSE Autosomal dominant 132800 Multiple self-healing squamous epithelioma, susceptibility to 3 +607905 ALG2 Alg2, S. cerevisiae, homolog of ENSG00000119523 ALG2, CDGII, CMSTA3, CMS14 mutation identified in 1 CDGII patient Autosomal recessive 607906 ?Congenital disorder of glycosylation, type Ii 3 +607905 ALG2 Alg2, S. cerevisiae, homolog of ENSG00000119523 ALG2, CDGII, CMSTA3, CMS14 mutation identified in 1 CDGII patient Autosomal recessive 616228 Myasthenic syndrome, congenital, 14, with tubular aggregates 3 +614954 Congenital heart defects, multiple types, 3 CHDT3 max lod at D9S1690 Autosomal dominant 614954 Congenital heart defects, multiple types, 3 2 +608026 Hypertensive nephropathy HNP1 608026 Hypertensive nephropathy 2 +600156 Hirschsprung disease, susceptibility to, 5 HSCR5 Autosomal dominant 600156 Hirschsprung disease, susceptibility to, 5 2 +607853 Panic disorder 2 PAND2 max lod at D9S271 607853 Panic disorder 2 2 +183840 Spondyloarthropathy, susceptibility to, 2 SPDA2 max lod at D9S1776 Autosomal dominant 183840 Spondyloarthropathy, susceptibility to, 2 2 +600542 NR4A3 Chondrosarcoma, extraskeletal myxoid, fused to EWS in ENSG00000119508 CSMF t(9;17)(q22;q11); t(9;22)(q22;q11-q12) 612237 Chondrosarcoma, extraskeletal myxoid 3 +243305 INVS Inversin ENSG00000119509 INVS, INV, NPHP2, NPH2 Autosomal recessive 602088 Nephronophthisis 2, infantile 3 +602938 BAAT Bile acid coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase) ENSG00000276559 BAAT 607748 Hypercholanemia, familial 3 +612724 ALDOB Aldolase B, fructose-bisphosphatase ENSG00000136872 ALDOB Autosomal recessive 229600 Fructose intolerance 3 +600046 ABCA1 ATP-binding cassette 1 ENSG00000165029 ABCA1, ABC1, HDLDT1, TGD Autosomal dominant 143890 Coronary artery disease in familial hypercholesterolemia, protection against 3 +600046 ABCA1 ATP-binding cassette 1 ENSG00000165029 ABCA1, ABC1, HDLDT1, TGD 604091 HDL deficiency, type 2 3 +600046 ABCA1 ATP-binding cassette 1 ENSG00000165029 ABCA1, ABC1, HDLDT1, TGD Autosomal recessive 205400 Tangier disease 3 +612238 Scoliosis, idiopathic, susceptibility to, 4 IS4 max lod at D9S2157 612238 Scoliosis, idiopathic, susceptibility to, 4 2 +612883 Menarche, age at, QTL3 MENAQ3 associated with rs2090409 612883 Menarche, age at, QTL3 2 +607440 FKTN Fukutin ENSG00000106692 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 Autosomal recessive 611615 Cardiomyopathy, dilated, 1X 3 +607440 FKTN Fukutin ENSG00000106692 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 Autosomal recessive 253800 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 3 +607440 FKTN Fukutin ENSG00000106692 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 Autosomal recessive 613152 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 3 +607440 FKTN Fukutin ENSG00000106692 FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4 Autosomal recessive 611588 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 3 +186855 TAL2 T-cell acute lymphocytic leukemia-2 ENSG00000186051 TAL2 33kb from breakpoint in t(7;9) 613065 Leukemia, T-cell acute lymphocytic, somatic 3 +611236 TMEM38B Transmembrane protein 38B ENSG00000095209 TMEM38B, TRICB, OI14 615066 Osteogenesis imperfecta, type XIV 3 +603722 IKBKAP Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein ENSG00000070061 IKBKAP, IKAP Autosomal recessive 223900 Dysautonomia, familial 3 +604574 FRRS1L Ferric-chelate reductase 1-like ENSG00000260230 FRRS1L, C9orf4, CG6, EIEE37 Autosomal recessive 616981 Epileptic encephalopathy, early infantile, 37 3 +601296 MUSK Receptor tyrosine kinase MuSK ENSG00000030304 MUSK, CMS9, FADS Autosomal recessive 208150 Fetal akinesia deformation sequence 3 +601296 MUSK Receptor tyrosine kinase MuSK ENSG00000030304 MUSK, CMS9, FADS Autosomal recessive 616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 3 +611488 Macular degeneration, age-related, 10 ARMD10 611488 Macular degeneration, age-related, 10 2 +608762 Epilepsy, idiopathic generalized, susceptibility to 3 EIG3 Autosomal recessive 608762 Epilepsy, idiopathic generalized, susceptibility to, 3 2 +612259 Inflammatory bowel disease 16, susceptibility to IBD16 612259 Inflammatory bowel disease 16 2 +607795 PRPF4 Precursor mRNA-processing factor 4, S. cerevisiae, homolog of ENSG00000136875 PRPF4, PRP4, HPRP4, RP70 Autosomal dominant 615922 Retinitis pigmentosa 70 3 +125270 ALAD Aminolevulinate, delta-, dehydratase ENSG00000148218 ALAD, ALADH, PBGS linked to ABO; ORM-ALAD-AK-ABO Autosomal recessive 612740 Lead poisoning, susceptibility to 3 +125270 ALAD Aminolevulinate, delta-, dehydratase ENSG00000148218 ALAD, ALADH, PBGS linked to ABO; ORM-ALAD-AK-ABO Autosomal recessive 612740 Porphyria, acute hepatic 3 +608461 COL27A1 Collagen, type XXVII, alpha-1 ENSG00000196739 COL27A1, KIAA1870, STLS mutation identified in 1 STLS family Autosomal recessive 615155 ?Steel syndrome 3 +607928 WHRN Whirlin ENSG00000095397 WHRN, CIP98, KIAA1526, DFNB31, USH2D Autosomal recessive 607084 Deafness, autosomal recessive 31 3 +607928 WHRN Whirlin ENSG00000095397 WHRN, CIP98, KIAA1526, DFNB31, USH2D Autosomal recessive 611383 Usher syndrome, type 2D 3 +613207 Asthma-related traits, susceptibility to, 8 ASRT8 associated with rs3789873 613207 Asthma-related traits, susceptibility to, 8 2 +187380 TNC Tenascin C (hexabrachion) ENSG00000041982 TNC, HXB, DFNA56 proximal to ABL Autosomal dominant 615629 Deafness, autosomal dominant 56 3 +604767 DEC1 Deleted in esophageal cancer 1 ENSG00000173077 DEC1 Autosomal dominant 133239 Esophageal squamous cell carcinoma 1 +602290 TRIM32 Tripartite-motif-containing protein 32 ENSG00000119401 TRIM32, HT2A, LGMD2H, BBS11 mutation identified in 1 BBS11 family Autosomal recessive 615988 ?Bardet-Biedl syndrome 11 3 +602290 TRIM32 Tripartite-motif-containing protein 32 ENSG00000119401 TRIM32, HT2A, LGMD2H, BBS11 mutation identified in 1 BBS11 family Autosomal recessive 254110 Muscular dystrophy, limb-girdle, type 2H 3 +608201 CDK5RAP2 CDK5 regulatory subunit-associated protein 2 ENSG00000136861 CDK5RAP2, KIAA1633, MCPH3 Autosomal recessive 604804 Microcephaly 3, primary, autosomal recessive 3 +120900 C5 Complement component-5 ENSG00000106804 C5, C5D, ECLZB 609536 C5 deficiency 3 +120900 C5 Complement component-5 ENSG00000106804 C5, C5D, ECLZB Autosomal dominant 615749 Eculizumab, poor response to 3 +137350 GSN Gelsolin ENSG00000148180 GSN 40kb proximal to ABL Autosomal dominant 105120 Amyloidosis, Finnish type 3 +609720 CRB2 Crumbs, Drosophila, homolog of ENSG00000148204 CRB2, FSGS9, VMCKD Autosomal recessive 616220 Focal segmental glomerulosclerosis 9 3 +609720 CRB2 Crumbs, Drosophila, homolog of ENSG00000148204 CRB2, FSGS9, VMCKD Autosomal recessive 219730 Ventriculomegaly with cystic kidney disease 3 +184757 NR5A1 Nuclear receptor subfamily 5, group A, member 1 ENSG00000136931 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 Adrenocortical insufficiency 3 +184757 NR5A1 Nuclear receptor subfamily 5, group A, member 1 ENSG00000136931 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 Autosomal dominant 612964 Premature ovarian failure 7 3 +184757 NR5A1 Nuclear receptor subfamily 5, group A, member 1 ENSG00000136931 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 Autosomal recessive 613957 Spermatogenic failure 8 3 +184757 NR5A1 Nuclear receptor subfamily 5, group A, member 1 ENSG00000136931 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8 Autosomal dominant 612965 46XY sex reversal 3 3 +602575 LMX1B LIM homeo box transcription factor 1, beta ENSG00000136944 LMX1B, NPS1 Autosomal dominant 161200 Nail-patella syndrome 3 +610933 LRSAM1 Leucine-rich repeat- and sterile alpha motif-containing 1 ENSG00000148356 LRSAM1, TAL, RIFLE, CMT2P Autosomal recessive, Autosomal dominant 614436 Charcot-Marie-Toothe disease, axonal, type 2P 3 +612557 Leukemia, chronic lymphocytic, susceptibility to, 3 CLLS3 associated with SNP -6531 upstream of DAPK1 promoter 612557 Leukemia, chronic lymphocytic, susceptibility to, 3 2 +614623 Keratoconus 6 KTCN6 max lod at 159cM Autosomal dominant 614623 Keratoconus 6 2 +602926 STXBP1 Syntaxin-binding protein 1 ENSG00000136854 STXBP1, UNC18, EIEE4 Autosomal dominant 612164 Epileptic encephalopathy, early infantile, 4 3 +613405 MIR2861 Micro RNA 2861 ENSG00000136807 MIR2861, MIRN2861, BMND15 Autosomal recessive, Autosomal dominant 613418 Bone mineral density QTL 15 3 +131195 ENG Endoglin ENSG00000106991 ENG, END, HHT1, ORW Autosomal dominant 187300 Telangiectasia, hereditary hemorrhagic, type 1 3 +103000 AK1 Adenylate kinase-1 ENSG00000106992 AK1 proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM Autosomal recessive 612631 Hemolytic anemia due to adenylate kinase deficiency 3 +603564 DPM2 Dolichyl-phosphate mannosyltransferase 2, regulatory subunit ENSG00000136908 DPM2, CDG1U Autosomal recessive 615042 Congenital disorder of glycosylation, type Iu 3 +602377 DNM1 Dynamin-1 ENSG00000106976 DNM1, EIEE31 Autosomal dominant 616346 Epileptic encephalopathy, early infantile, 31 3 +612898 COQ4 Coenzyme Q4, S. cerevisiae, homolog of ENSG00000167113 COQ4, COQ10D7 Autosomal recessive 616276 Coenzyme Q10 deficiency, primary, 7 3 +604194 SLC27A4 Solute carrier family 27 (fatty acid transporter), member 4 ENSG00000167114 SLC27A4, FATP4, IPS 608649 Ichthyosis prematurity syndrome 3 +603371 GLE1 Gle1, RNA export mediator, S. cerevisiae, homolog of ENSG00000119392 GLE1, GLE1L, LCCS, LCCS1 611890 Arthrogryposis, lethal, with anterior horn cell disease 3 +603371 GLE1 Gle1, RNA export mediator, S. cerevisiae, homolog of ENSG00000119392 GLE1, GLE1L, LCCS, LCCS1 Autosomal recessive 253310 Lethal congenital contracture syndrome 1 3 +182810 SPTAN1 Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin) ENSG00000197694 SPTAN1, NEAS, EIEE5 Autosomal dominant 613477 Epileptic encephalopathy, early infantile, 5 3 +613363 WDR34 WD repeat-containing protein 34 ENSG00000119333 WDR34, SRTD11 Autosomal recessive 615633 Short-rib thoracic dysplasia 11 with or without polydactyly 3 +608360 LRRC8A Leucine-rich repeat-containing 8A ENSG00000136802 LRRC8A, KIAA1437, AGM5 mutation identified in 1 AGM5 patient Autosomal dominant 613506 ?Agammaglobulinemia 5 3 +610746 DOLK Transmembrane protein 15 ENSG00000175283 TMEM15, DK1, SEC59, KIAA1094, CDG1M Autosomal recessive 610768 Congenital disorder of glycosylation, type Im 3 +600184 CRAT Carnitine acetyltransferase ENSG00000095321 CRAT, CAT1 ?Carnitine acetyltransferase deficiency 1 +605204 TOR1A Torsin A ENSG00000136827 DYT1, TOR1A Dystonia-1, modifier of 3 +605204 TOR1A Torsin A ENSG00000136827 DYT1, TOR1A Autosomal dominant 128100 Dystonia-1, torsion 3 +603470 ASS1 Argininosuccinate synthetase 1 ENSG00000130707 ASS1, ASS 14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on 6p23-q12 Autosomal recessive 215700 Citrullinemia 3 +616458 PRDM12 PR domain-containing protein 12 ENSG00000130711 PRDM12, HSAN8 Autosomal recessive 616488 Neuropathy, hereditary sensory and autonomic, type VIII 3 +189980 ABL1 Abelson murine leukemia viral (v-abl) oncogene homolog 1 ENSG00000097007 ABL1 fusion hybrid gene with BCR1 in CML Leukemia, Philadelphia chromosome-positive, resistant to imatinib 3 +604349 LAMC3 Laminin, gamma-3 ENSG00000050555 LAMC3, OCCM Autosomal recessive 614115 Cortical malformations, occipital 3 +171720 Alkaline phosphatase, plasma level of, QTL 1 ALPQTL1 linkage with rs657152 ?Autosomal dominant 171720 Alkaline phosphatase, plasma level of, QTL1 2 +114350 NUP214 Nucleoporin, 214kD ENSG00000126883 NUP214, D9S46E, CAN, CAIN fused with DEK in AML; fused with ABL1 in T-ALL 613065 Leukemia, T-cell acute lymphoblastic, somatic 3 +114350 NUP214 Nucleoporin, 214kD ENSG00000126883 NUP214, D9S46E, CAN, CAIN fused with DEK in AML; fused with ABL1 in T-ALL 601626 Leukemia, acute myeloid, somatic 3 +607423 POMT1 Protein O-mannosyltransferase 1 ENSG00000130714 POMT1, MDDGA1, MDDGB1, MDDGC1 Autosomal recessive 236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 3 +607423 POMT1 Protein O-mannosyltransferase 1 ENSG00000130714 POMT1, MDDGA1, MDDGB1, MDDGC1 Autosomal recessive 613155 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 3 +607423 POMT1 Protein O-mannosyltransferase 1 ENSG00000130714 POMT1, MDDGA1, MDDGB1, MDDGC1 Autosomal recessive 609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 3 +608465 SETX Senataxin ENSG00000107290 SETX, SCAR1, AOA2, ALS4 Autosomal dominant 602433 Amyotrophic lateral sclerosis 4, juvenile 3 +608465 SETX Senataxin ENSG00000107290 SETX, SCAR1, AOA2, ALS4 Autosomal recessive 606002 Spinocerebellar ataxia, autosomal recessive 1 3 +605284 TSC1 Hamartin (tuberous sclerosis 1 gene) ENSG00000165699 TSC1, LAM linked to ABO, ABL 606690 Lymphangioleiomyomatosis 3 +605284 TSC1 Hamartin (tuberous sclerosis 1 gene) ENSG00000165699 TSC1, LAM linked to ABO, ABL Autosomal dominant 191100 Tuberous sclerosis-1 3 +604383 GFI1B Growth factor-independent 1B ENSG00000165702 GFI1B, BDPLT17 Autosomal dominant 187900 Bleeding disorder, platelet-type, 17 3 +114840 CEL Carboxyl-ester lipase (bile-salt stimulated lipase) ENSG00000170835 CEL, BSSL, CELL, MODY8 Autosomal dominant 609812 Maturity-onset diabetes of the young, type VIII 3 +110300 ABO ABO glycosyltransferase ENSG00000175164 ABO linked to AK1 616093 Blood group, ABO system 3 +185620 SURF1 Surfeit-1 ENSG00000280627 SURF1, CMT4K distal to ABL, CAN Autosomal recessive 616684 Charcot-Marie-Tooth disease, type 4K 3 +185620 SURF1 Surfeit-1 ENSG00000280627 SURF1, CMT4K distal to ABL, CAN Autosomal recessive, Mitochondrial 256000 Leigh syndrome, due to COX IV deficiency 3 +604134 ADAMTS13 A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 ENSG00000281244 ADAMTS13, VWFCP, TTP Autosomal recessive 274150 Thrombotic thrombocytopenic purpura, familial 3 +612277 ADAMTSL2 ADAMTS-like protein 2 ENSG00000197859 ADAMTSL2, KIAA0605, GPHYSD1 Autosomal recessive 231050 Geleophysic dysplasia 1 3 +609312 DBH Dopamine-beta-hydroxylase ENSG00000123454 DBH tightly linked to ABO Autosomal recessive 223360 Dopamine beta-hydroxylase deficiency 3 +609312 DBH Dopamine-beta-hydroxylase ENSG00000123454 DBH tightly linked to ABO Dopamine-beta-hydroxylase activity levels, plasma 3 +604455 SARDH Sarcosine dehydrogenase ENSG00000123453 SARDH, SARD, SAR Autosomal recessive 268900 Sarcosinemia 3 +120215 COL5A1 Collagen V, alpha-1 polypeptide ENSG00000130635 COL5A1, EDSC Autosomal dominant 130000 Ehlers-Danlos syndrome, classic type 3 +608167 KCNT1 Potassium channel, subfamily T, member 1 ENSG00000107147 KCNT1, KIAA1422, EIEE14, ENFL5 Autosomal dominant 615005 Epilepsy, nocturnal frontal lobe, 5 3 +608167 KCNT1 Potassium channel, subfamily T, member 1 ENSG00000107147 KCNT1, KIAA1422, EIEE14, ENFL5 Autosomal dominant 614959 Epileptic encephalopathy, early infantile, 14 3 +600577 LHX3 LIM/homeodomain protein LHX3 ENSG00000107187 LHX3, CPHD3 in mouse, close to Notch1; centromeric to ABL Autosomal recessive 221750 Pituitary hormone deficiency, combined, 3 3 +607212 CARD9 Caspase recruitment domain-containing protein 9 ENSG00000187796 CARD9, CANDF2 Autosomal recessive 212050 Candidiasis, familial, 2, autosomal recessive 3 +613036 PMPCA Peptidase, mitochondrial processing, alpha ENSG00000165688 PMPCA, KIAA0123, SCAR2 Autosomal recessive 213200 Spinocerebellar ataxia, autosomal recessive 2 3 +613037 INPP5E Inositol polyphosphate-5-phosphatase, 72kD ENSG00000148384 INPP5E, MORMS, JBTS1, CORS1 Autosomal recessive 213300 Joubert syndrome 1 3 +613037 INPP5E Inositol polyphosphate-5-phosphatase, 72kD ENSG00000148384 INPP5E, MORMS, JBTS1, CORS1 Autosomal recessive 610156 Mental retardation, truncal obesity, retinal dystrophy, and micropenis 3 +190198 NOTCH1 Notch, Drosophila, homolog of, 1, translocation-associated ENSG00000148400 NOTCH1, TAN1, AOS5, AOVD1 Autosomal dominant 616028 Adams-Oliver syndrome 5 3 +190198 NOTCH1 Notch, Drosophila, homolog of, 1, translocation-associated ENSG00000148400 NOTCH1, TAN1, AOS5, AOVD1 Autosomal dominant 109730 Aortic valve disease 1 3 +603100 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta) ENSG00000169692 AGPAT2, LPAAB, BSCL, BSCL1 Autosomal recessive 608594 Lipodystrophy, congenital generalized, type 1 3 +604346 MAN1B1 Mannosidase, alpha, class 1B member 1 ENSG00000177239 MAN1B1, MRT15 Autosomal recessive 614202 Mental retardation, autosomal recessive 15 3 +138249 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 ENSG00000176884 GRIN1, NMDAR1, MRD8 614254 Mental retardation, autosomal dominant 8 3 +613354 TPRN Taperin ENSG00000176058 TPRN, C9orf75, DFNB79 Autosomal recessive 613307 Deafness, autosomal recessive 79 3 +609826 SLC34A3 Solute carrier family 34 (sodium/phosphate cotransporter), member 3 ENSG00000198569 SLC34A3, NPTIIC, HHRH Autosomal recessive 241530 Hypophosphatemic rickets with hypercalciuria 3 +608137 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ENSG00000165802 NSMF, NELF, HH9 614838 Hypogonadotropic hypogonadism 9 with or without anosmia 3 +607001 EHMT1 Euchromatic histone methyltransferase 1 ENSG00000181090 EHMT1, EUHMTASE1, DEL9q34 Autosomal dominant 610253 Kleefstra syndrome 3 +601012 CACNA1B Calcium channel, voltage-dependent, L type, alpha 1B subunit ENSG00000148408 CACNA1B, CACNL1A5, DYT23 mutation identified in 1 DYT23 family Autosomal dominant 614860 ?Dystonia 23 3 +603188 Body mass index quantitative trait locus 8 BMIQ8 603188 Obesity, susceptibility to, BMIQ8 2 +607499 Bulimia nervosa, susceptibility to BULN between D10S1430 and D10S1423 Multifactorial 607499 Bulimia nervosa, susceptibility to 2 +611384 Plasmodium falciparum fever episodes QTL1 PFFE1 611384 Plasmodium falciparum fever episodes QTL1 2 +601188 Suppression of tumorigenicity 12, prostate ST12, PAC1 601188 Prostate adenocarcinoma 2 +616768 TUBB8 Tubulin, beta 8 ENSG00000261456 TUBB8, OOMD2 Autosomal dominant 616780 Oocyte maturation defect 2 3 +608668 ZMYND11 Zinc finger MYND domain-containing protein 11 ENSG00000015171 ZMYND11, BS69, BRAM1, MRD30 Autosomal dominant 616083 Mental retardation, autosomal dominant 30 3 +602053 KLF6 Kruppel-like factor-6 ENSG00000067082 KLF6, COPEB, BCD1, ZF9 613659 Gastric cancer, somatic 3 +602053 KLF6 Kruppel-like factor-6 ENSG00000067082 KLF6, COPEB, BCD1, ZF9 176807 Prostate cancer, somatic 3 +612594 Multiple sclerosis, susceptibility to, 2 MS2 associated with rs12722489 and rs2104286 612594 Multiple sclerosis, susceptibility to, 2 2 +600450 AKR1C2 Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II) ENSG00000151632 AKR1C2, DDH2, DD2, HAKRD, SRXY8 Obesity, hyperphagia, and developmental delay 3 +600450 AKR1C2 Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II) ENSG00000151632 AKR1C2, DDH2, DD2, HAKRD, SRXY8 Autosomal recessive 614279 46XY sex reversal 8 3 +600451 AKR1C4 Aldo-keto reductase family 1, member C4 (chlordecone reductase) ENSG00000198610 AKR1C4, CHDR, CDR, HAKRA, DD4 Autosomal recessive 614279 46XY sex reversal 8, modifier of 3 +147730 IL2RA Interleukin-2 receptor, alpha ENSG00000134460 IL2RA, CD25, IL2R, IDDM10, IMD41 601942 Diabetes, mellitus, insulin-dependent, susceptibility to, 10 3 +147730 IL2RA Interleukin-2 receptor, alpha ENSG00000134460 IL2RA, CD25, IL2R, IDDM10, IMD41 Autosomal recessive 606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity 3 +604401 Arrhythmogenic right ventricular dysplasia 6 ARVD6 604401 Arrhythmogenic right ventricular dysplasia 6 2 +612230 Colorectal cancer, susceptibility to, 5 CRCS5 associated with rs10795668 612230 Colorectal cancer, susceptibility to, 5 2 +601362 DiGeorge syndrome chromosome region-2 DGCR2, DGS2 601362 DiGeorge syndrome/velocardiofacial syndrome complex-2 2 +131320 GATA3 GATA-binding protein-3 ENSG00000107485 GATA3, HDR, HDRS Autosomal dominant 146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 3 +614984 DHTKD1 Dehydrogenase E1 and transketolase domains-containing protein 1 ENSG00000181192 DHTKD1, KIAA1630, AMOXAD, CMT2Q mutation identified in 1 CMT2Q family Autosomal recessive 204750 2-aminoadipic 2-oxoadipic aciduria 3 +614984 DHTKD1 Dehydrogenase E1 and transketolase domains-containing protein 1 ENSG00000181192 DHTKD1, KIAA1630, AMOXAD, CMT2Q mutation identified in 1 CMT2Q family Autosomal dominant 615025 ?Charcot-Marie-Tooth disease, axonal, type 2Q 3 +606187 Alzheimer disease 7 AD7 max LOD at D10S1423 606187 Alzheimer disease-7 2 +609888 Leprosy, paucibacillary type, susceptibility to LPRS 609888 Leprosy, paucibacillary type, susceptibility to 2 +602432 OPTN Optineurin ENSG00000123240 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 613435 Amyotrophic lateral sclerosis 12 3 +602432 OPTN Optineurin ENSG00000123240 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 Autosomal dominant 137760 Glaucoma 1, open angle, E 3 +602432 OPTN Optineurin ENSG00000123240 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 606657 Glaucoma, normal tension, susceptibility to 3 +602026 PHYH Phytanoyl-CoA hydroxylase ENSG00000107537 PHYH, PAHX Autosomal recessive 266500 Refsum disease 3 +616305 FRMD4A FERM domain-containing protein 4A ENSG00000151474 FRMD4A, KIAA1294, CCAFCA mutation identified in 1 CCAFCA family Autosomal recessive 616819 ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 3 +605988 DCLRE1C DNA cross-link repair protein 1C ENSG00000152457 DCLRE1C, ARTEMIS, SCIDA Autosomal recessive 603554 Omenn syndrome 3 +605988 DCLRE1C DNA cross-link repair protein 1C ENSG00000152457 DCLRE1C, ARTEMIS, SCIDA Autosomal recessive 602450 Severe combined immunodeficiency, Athabascan type 3 +604063 ITGA8 Integrin, alpha-8 ENSG00000077943 ITGA8, RHDA1 Autosomal recessive 191830 Renal hypodysplasia/aplasia 1 3 +602997 CUBN Cubilin (intrinsic factor-cobalamin receptor) ENSG00000107611 CUBN, IFCR, MGA1 Autosomal recessive 261100 Megaloblastic anemia-1, Finnish type 3 +193060 VIM Vimentin ENSG00000026025 VIM, CTRCT30 mutation identified in 1 CTRCT30 patient Autosomal dominant 116300 ?Cataract 30, pulverulent 3 +600003 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit ENSG00000165995 CACNB2 611876 Brugada syndrome 4 3 +602409 MLLT10 ALL1 fused gene from chromosome 10 ENSG00000078403 AF10 fuses with MLL and HEAB Autosomal dominant 601626 Leukemia, acute myeloid 3 +607194 PTF1A Pancreas transcription factor 1, alpha subunit ENSG00000168267 PTF1A, PACA, PAGEN2 Autosomal recessive 615935 Pancreatic agenesis 2 3 +607194 PTF1A Pancreas transcription factor 1, alpha subunit ENSG00000168267 PTF1A, PACA, PAGEN2 Autosomal recessive 609069 Pancreatic and cerebellar agenesis 3 +606808 MYO3A Myosin IIIA ENSG00000095777 MYO3A, DFNB30 Autosomal recessive 607101 Deafness, autosomal recessive 30 3 +607429 PDSS1 Prenyl diphosphate synthase, subunit 1 ENSG00000148459 PDSS1, TPT, COQ1, COQ10D2 Autosomal recessive 614651 Coenzyme Q10 deficiency, primary, 2 3 +610855 ANKRD26 Ankyrin repeat domain-containing protein 26 ENSG00000107890 ANKRD26, KIAA1074, THC2 Autosomal dominant 188000 Thrombocytopenia 2 3 +608221 MASTL Microtubule-associated serine/threonine kinase-like ENSG00000120539 MASTL, FLJ14813, GWL, THC2 mutation identified in 1 THC2 family Autosomal dominant 188000 ?Thrombocytopenia-2 3 +602207 RAB18 Ras-associated protein RAB18 ENSG00000099246 RAB18, WARBM3 Autosomal recessive 614222 Warburg micro syndrome 3 3 +615408 ARMC4 Armadillo repeat-containing protein 4 ENSG00000169126 ARMC4, CILD23 Autosomal recessive 615451 Ciliary dyskinesia, primary, 23 3 +615049 WAC WW domain-containing adaptor with coiled-coil region ENSG00000095787 WAC, KIAA1844, DESSH Autosomal dominant 616708 Desanto-Shinawi syndrome 3 +607239 DFNB33 Deafness, autosomal recessive 33 DFNB33 prev. assignment to chr. 9 an error Autosomal recessive 607239 Deafness, autosomal recessive 33 2 +613669 MTPAP Mitochondrial poly(A) polymerase ENSG00000107951 MTPAP, PAPD1, SPAX4 Autosomal recessive 613672 Ataxia, spastic, 4 3 +191195 MAP3K8 Mitogen-activated protein kinase kinase kinase 8 (cancer Osaka thyroid oncogene) ENSG00000107968 MAP3K8, COT, EST, TPL2 211980 Lung cancer, somatic 3 +611934 Epilepsy, idiopathic generalized, susceptibility to, 5 EIG5 max lod at D10S1426 611934 Epilepsy, idiopathic generalized, susceptibility to, 5 2 +189909 ZEB1 Zinc finger E box-binding homeobox 1 ENSG00000148516 ZEB1, TCF8, NIL2A, PPCD3, FECD6 613270 Corneal dystrophy, Fuchs endothelial, 6 3 +189909 ZEB1 Zinc finger E box-binding homeobox 1 ENSG00000148516 ZEB1, TCF8, NIL2A, PPCD3, FECD6 609141 Corneal dystrophy, posterior polymorphous, 3 3 +614990 USH1K Usher syndrome, type IK USH1K max lod at D10S539 Autosomal recessive 614990 Usher syndrome, type IK 2 +608176 Autoimmune thyroid disease, susceptibility to, 4 AITD4 608176 Autoimmune thyroid disease, susceptibility to, 4 2 +610926 Tooth agenesis, selective, 5 STHAG5 D10S604 and D10S568 610926 Tooth agenesis, selective, 5 2 +611448 BMS1 Bms1, ribosome assembly protein, S. cerevisiae, homolog of ENSG00000165733 BMS1, BMS1L, KIAA0187, ACC mutation identified in one ACC family Autosomal recessive, Autosomal dominant 107600 ?Aplasia cutis congenita, nonsyndromic 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 209880 Central hypoventilation syndrome, congenital 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 142623 Hirschsprung disease, susceptibility to, 1 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 155240 Medullary thyroid carcinoma 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 171400 Multiple endocrine neoplasia IIA 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 162300 Multiple endocrine neoplasia IIB 3 +164761 RET RET transforming sequence; oncogene RET ENSG00000165731 RET, MEN2A, HSCR1 Autosomal dominant 171300 Pheochromocytoma 3 +600835 CXCL12 Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1) ENSG00000107562 CXCL12, SDF1 609423 AIDS, resistance to 3 +152390 ALOX5 Arachidonate 5-lipoxygenase ENSG00000012779 ALOX5 Autosomal dominant 600807 Asthma, diminished response to antileukotriene treatment in 3 +152390 ALOX5 Arachidonate 5-lipoxygenase ENSG00000012779 ALOX5 Atherosclerosis, susceptibility to 3 +157145 MSMB Microseminoprotein, beta ENSG00000263639 MSMB, HPC13 611928 Prostate cancer, hereditary, 13 3 +605120 GDF2 Growth differentiation factor 2 (bone morphogenetic protein 9) ENSG00000263761 GDF2, BMP9, HHT5 Autosomal dominant 615506 Telangiectasia, hereditary hemorrhagic, type 5 3 +180290 RBP3 Retinol-binding protein-3, interstitial ENSG00000265203 RBP3, RP66 1 family identified with mutation Autosomal recessive 615233 ?Retinitis pigmentosa 66 3 +614237 Hypotrichosis 9 HYPT9 between D10S538 and D10S2327 614237 Hypotrichosis 9 2 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal recessive 214150 Cerebrooculofacioskeletal syndrome 1 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal recessive 133540 Cockayne syndrome, type B 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal recessive 278800 De Sanctis-Cacchione syndrome 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal recessive 211980 Lung cancer, susceptibility to 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 613761 Macular degeneration, age-related, susceptibility to 5 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal dominant 616946 Premature ovarian failure 11 3 +609413 ERCC6 Excision repair cross complementing rodent repair deficiency, complementation group 6 ENSG00000225830 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Autosomal recessive 600630 UV-sensitive syndrome 1 3 +118490 CHAT Choline acetyltransferase ENSG00000070748 CHAT, CMS6 Autosomal recessive 254210 Myasthenic syndrome, congenital, 6, presynaptic 3 +176894 PRKG1 Protein kinase, cGMP-dependent, regulatory, type I ENSG00000185532 PRKG1, PRKG1B, PRKGR1B, AAT8 Autosomal dominant 615436 Aortic aneurysm, familial thoracic 8 3 +613065 Leukemia, acute lymphocytic, susceptibility to, 1 ALL1 associated with rs10821936 613065 Leukemia, acute lymphocytic, susceptibility to, 1 2 +612369 Alkaline phosphatase, plasma level of, QTL 4 ALPQTL4 linkage with rs12355784 612369 Alkaline phosphatase, plasma level of, QTL4 2 +612255 Inflammatory bowel disease 15 IBD15 association with rs10761659 612255 Inflammatory bowel disease 15 2 +612357 Major affective disorder 8 MAFD8 associated with rs20994336 612357 Major affective disorder-8, susceptibility to 2 +612717 MYP15 Myopia 15 MYP15 max lod at D10S1643 Autosomal dominant 612717 Myopia 15 2 +154545 MBL2 Mannose-binding lectin 2, soluble (opsonic defect) ENSG00000165471 MBL2, MBL, MBP1, MBL2D, MBPD near MEN2A Autosomal dominant 614372 Chronic infections, due to MBL deficiency 3 +605514 PCDH15 Protocadherin 15 ENSG00000150275 PCDH15, DFNB23, USH1F Autosomal recessive 609533 Deafness, autosomal recessive 23 3 +605514 PCDH15 Protocadherin 15 ENSG00000150275 PCDH15, DFNB23, USH1F Autosomal recessive, Digenic recessive 601067 Usher syndrome, type 1D/F digenic 3 +605514 PCDH15 Protocadherin 15 ENSG00000150275 PCDH15, DFNB23, USH1F Autosomal recessive 602083 Usher syndrome, type 1F 3 +614295 BICC1 Bicaudal C, Drosophila, homolog of, 1 ENSG00000122870 BICC1, BICC, CYSRD Autosomal dominant 601331 Renal dysplasia, cystic, susceptibility to 3 +600465 ANK3 Ankyrin-3, node of Ranvier ENSG00000151150 ANK3, MRT37 mutation identified in 1 family Autosomal recessive 615493 ?Mental retardation, autosomal recessive, 37 3 +607818 ZNF365 Zinc finger protein 365 ENSG00000138311 ZNF365, UAN 605990 Nephrolithiasis, uric acid, susceptibility to 3 +604185 MBS3 Facial paresis, hereditary congenital, 2 HCFP2 Autosomal dominant 604185 Facial paresis, hereditary congenital, 2 2 +613339 Epilepsy, hot water, 1 HWE1 max lod at D10S412 Autosomal dominant 613339 Epilepsy, hot water, 1 2 +129010 EGR2 KROX-20, Drosophila, homolog of (early growth response-2) ENSG00000122877 EGR2, KROX20 Autosomal dominant 607678 Charcot-Marie-Tooth disease, type 1D 3 +129010 EGR2 KROX-20, Drosophila, homolog of (early growth response-2) ENSG00000122877 EGR2, KROX20 Autosomal recessive, Autosomal dominant 145900 Dejerine-Sottas disease 3 +129010 EGR2 KROX-20, Drosophila, homolog of (early growth response-2) ENSG00000122877 EGR2, KROX20 Autosomal recessive, Autosomal dominant 605253 Neuropathy, congenital hypomyelinating, 1 3 +607667 CTNNA3 Catenin, alpha-3 ENSG00000183230 CTNNA3, ARVD13 Autosomal dominant 615616 Arrhythmogenic right ventricular dysplasia, familial, 13 3 +608517 MYPN Myopalladin ENSG00000138347 MYPN, CMD1DD, CMH22, RCM4 Autosomal dominant 615248 Cardiomyopathy, dilated, 1KK 3 +608517 MYPN Myopalladin ENSG00000138347 MYPN, CMD1DD, CMH22, RCM4 Autosomal dominant 615248 Cardiomyopathy, familial restrictive, 4 3 +608517 MYPN Myopalladin ENSG00000138347 MYPN, CMD1DD, CMH22, RCM4 Autosomal dominant 615248 Cardiomyopathy, hypertrophic, 22 3 +609875 ATOH7 Atonal, Drosophila, homolog of, 7 ENSG00000179774 ATOH7, PHPVAR, NCRNA Autosomal recessive 221900 Persistent hyperplastic primary vitreous, autosomal recessive 3 +601810 DNA2 DNA replication helicase 2, yeast, homolog of ENSG00000138346 DNA2, DNA2L, KIAA0083, PEOA6, SCKL8 mutation identified in 1 SCKL8 family Autosomal dominant 615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 3 +601810 DNA2 DNA replication helicase 2, yeast, homolog of ENSG00000138346 DNA2, DNA2L, KIAA0083, PEOA6, SCKL8 mutation identified in 1 SCKL8 family Autosomal recessive 615807 ?Seckel syndrome 8 3 +608583 Atrial fibrillation, familial, 1 ATFB1 Autosomal dominant 608583 Atrial fibrillation, familial, 1 2 +611706 Migraine, with or without aura, susceptibility to, 12 MGR12 max lod at 100cM Autosomal dominant 611706 Migraine, with or without aura, susceptibility to, 12 2 +611094 MRT8 Mental retardation, autosomal recessive, 8 MRT8 between rs1599711 and rs942793 611094 Mental retardation, autosomal recessive, 8 2 +609041 SPG27 Spastic paraplegia-27, autosomal recessive SPG27 between D10S606 and D10S1758 Autosomal recessive 609041 Spastic paraplegia 27, autosomal recessive 2 +611003 Smoking as a quantitative trait locus 1 SQTL1 near D10S1432 611003 Smoking as a quantitative trait locus 1 2 +609397 STOX1 Storkhead box 1 ENSG00000165730 STOX1, PEE4 609404 Preeclampsia/eclampsia 4 3 +609367 KIF1BP KIAA1279 gene ENSG00000198954 KIAA1279 Autosomal recessive 609460 Goldberg-Shprintzen megacolon syndrome 3 +142600 HK1 Hexokinase-1 ENSG00000156515 HK1, HKD, HMSNR 10p11.2 conflicting assignment; ?2 loci on chr.10 Autosomal recessive 235700 Hemolytic anemia due to hexokinase deficiency 3 +142600 HK1 Hexokinase-1 ENSG00000156515 HK1, HKD, HMSNR 10p11.2 conflicting assignment; ?2 loci on chr.10 Autosomal recessive 605285 Neuropathy, hereditary motor and sensory, Russe type 3 +604882 NEUROG3 Neurogenin 3 ENSG00000122859 NEUROG3, NGN3, ATOH5 Autosomal recessive 610370 Diarrhea 4, malabsorptive, congenital 3 +120350 COL13A1 Collagen XIII, alpha-1 polypeptide ENSG00000197467 COL13A1, CMS19 ~550kb proximal to P4HA Autosomal recessive 616720 Myasthenic syndrome, congenital, 19 3 +601265 NODAL Nodal, mouse, homolog of ENSG00000156574 NODAL, HTX5 Autosomal dominant 270100 Heterotaxy, visceral, 5 3 +170280 PRF1 Perforin ENSG00000180644 PRF1, HPLH2, FLH2 mistakenly assigned to chr.17 609135 Aplastic anemia 3 +170280 PRF1 Perforin ENSG00000180644 PRF1, HPLH2, FLH2 mistakenly assigned to chr.17 Autosomal recessive 603553 Hemophagocytic lymphohistiocytosis, familial, 2 3 +170280 PRF1 Perforin ENSG00000180644 PRF1, HPLH2, FLH2 mistakenly assigned to chr.17 605027 Lymphoma, non-Hodgkin 3 +126090 PCBD1 Pterin-4a-carbinolamine dehydratase 1 ENSG00000166228 PCBD1, DCOH Autosomal recessive 264070 Hyperphenylalaninemia, BH4-deficient, D 3 +612373 SLC29A3 Solute carrier family 29 (nucleoside transporter), member 3 ENSG00000198246 SLC29A3, ENT3, PHID, HCLAP Autosomal recessive 602782 Histiocytosis-lymphadenopathy plus syndrome 3 +605516 CDH23 Cadherin-23 (otocadherin) ENSG00000107736 CDH23, USH1D between D10S529 and D10S573 Autosomal recessive 601386 Deafness, autosomal recessive 12 3 +605516 CDH23 Cadherin-23 (otocadherin) ENSG00000107736 CDH23, USH1D between D10S529 and D10S573 Autosomal recessive, Digenic recessive 601067 Usher syndrome, type 1D 3 +605516 CDH23 Cadherin-23 (otocadherin) ENSG00000107736 CDH23, USH1D between D10S529 and D10S573 Autosomal recessive, Digenic recessive 601067 Usher syndrome, type 1D/F digenic 3 +176801 PSAP Prosaposin (sphingolipid activator protein-1) ENSG00000197746 PSAP, SAP1 Autosomal recessive 611721 Combined SAP deficiency 3 +176801 PSAP Prosaposin (sphingolipid activator protein-1) ENSG00000197746 PSAP, SAP1 610539 Gaucher disease, atypical 3 +176801 PSAP Prosaposin (sphingolipid activator protein-1) ENSG00000197746 PSAP, SAP1 Autosomal recessive 611722 Krabbe disease, atypical 3 +176801 PSAP Prosaposin (sphingolipid activator protein-1) ENSG00000197746 PSAP, SAP1 Autosomal recessive 249900 Metachromatic leukodystrophy due to SAP-b deficiency 3 +603799 CHST3 Carbohyrate sulfotransferase 3 ENSG00000122863 CHST3, C6ST, C6ST1, HSD Autosomal recessive 143095 Spondyloepiphyseal dysplasia with congenital joint dislocations 3 +614215 ASCC1 Activating signal cointegrator 1 complex, subunit 1 ENSG00000138303 ASCC1, p50, SMABF2 mutation identified in 1 SMABF2 family 614266 Barrett esophagus/esophageal adenocarcinoma 3 +614215 ASCC1 Activating signal cointegrator 1 complex, subunit 1 ENSG00000138303 ASCC1, p50, SMABF2 mutation identified in 1 SMABF2 family Autosomal recessive 616867 ?Spinal muscular atrophy with congenital bone fractures 2 3 +605084 MICU1 Mitochondrial calcium uptake protein 1 ENSG00000107745 MICU1, CBARA1, MPXPS Autosomal recessive 615673 Myopathy with extrapyramidal signs 3 +609204 MRPS16 Mitochondrial ribosomal protein S16 ENSG00000182180 MRPS16, COXPD2 Autosomal recessive 610498 Combined oxidative phosphorylation deficiency 2 3 +191840 PLAU Plasminogen activator, urokinase ENSG00000122861 PLAU, URK, QPD, BDPLT5 proximal to HOX11 Autosomal dominant 104300 Alzheimer disease, late-onset, susceptibility to 3 +191840 PLAU Plasminogen activator, urokinase ENSG00000122861 PLAU, URK, QPD, BDPLT5 proximal to HOX11 Autosomal dominant 601709 Quebec platelet disorder 3 +193065 VCL Vinculin ENSG00000035403 VCL, CMD1W, CMH15 611407 Cardiomyopathy, dilated, 1W 3 +193065 VCL Vinculin ENSG00000035403 VCL, CMD1W, CMH15 613255 Cardiomyopathy, hypertrophic, 15 3 +102750 ADK Adenosine kinase ENSG00000156110 ADK Autosomal recessive 614300 Hypermethioninemia due to adenosine kinase deficiency 3 +605880 KAT6B Lysine acetyltransferase 6B ENSG00000281813 KAT6B, MYST4, MORF, GTPTS Autosomal dominant 606170 Genitopatellar syndrome 3 +605880 KAT6B Lysine acetyltransferase 6B ENSG00000281813 KAT6B, MYST4, MORF, GTPTS 603736 SBBYSS syndrome 3 +614537 C10orf11 Chromosome 10 open reading frame 11 ENSG00000148655 C10orf11, OCA7 Autosomal recessive 615179 Albinism, oculocutaneous, type VII 3 +608078 Schizophrenia susceptibility locus, chromosome 10q-related SCZD11 between D10S1677 and D10S1753 Autosomal dominant 181500 Schizophrenia 2 +607965 SLEN1 Systemic lupus erythematosus with nephritis, susceptibility to, 1 SLEN1 607965 Systemic lupus erythematosus with nephritis, susceptibility to, 1 2 +612388 Sarcoidosis, susceptibility to, 3 SS3 associated with rs2789679 and rs1049550 612388 Sarcoidosis, susceptibility to, 3 2 +600150 KCNMA1 Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (slowpoke, Drosophila, homolog of) ENSG00000156113 KCNMA1, SLO Autosomal dominant 609446 Generalized epilepsy and paroxysmal dyskinesia 3 +614258 POLR3A Polymerase III, RNA, subunit A ENSG00000148606 POLR3A, RPC1, RPC155, ADDH, HLD7 Autosomal recessive 607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 3 +602412 RPS24 Ribosomal protein S24 ENSG00000138326 RPS24, DBA3 610629 Diamond-blackfan anemia 3 3 +178642 SFTPA2 Surfactant, pulmonary-associated protein A2 ENSG00000185303 SFTPA2, SPA2, COLEC5 contiguous with SFTPA1 Autosomal dominant 178500 Pulmonary fibrosis, idiopathic 3 +178630 SFTPA1 Surfactant, pulmonary-associated protein A1 ENSG00000122852 SFTPA1, SFTP1 contiguous with SFTPA2 Autosomal dominant 178500 Pulmonary fibrosis, idiopathic, susceptibility to 3 +610550 MAT1A Methionine adenosyltransferase I, alpha ENSG00000151224 MAT1A, MATA1, SAMS1 Autosomal recessive, Autosomal dominant 250850 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 3 +610550 MAT1A Methionine adenosyltransferase I, alpha ENSG00000151224 MAT1A, MATA1, SAMS1 Autosomal recessive, Autosomal dominant 250850 Methionine adenosyltransferase deficiency, autosomal recessive 3 +611920 C-reactive protein QTL CPROTQ max lod at D10S1239 611920 C-reactive protein QTL 2 +612242 Chromosome 10q22.3-q23.2 deletion syndrome DEL10q23, C10DELq23 612242 Chromosome 10q22.3-q23.2 deletion syndrome 4 +612288 Inflammatory bowel disease 20 IBD20 associated with rs11190140 612288 Inflammatory bowel disease 20 2 +609502 CDHR1 Cadherin-related family, member 1 ENSG00000148600 CDHR1, PCDH21, PRCAD, CORD15, RP65 Autosomal recessive 613660 Cone-rod dystrophy 15 3 +609502 CDHR1 Cadherin-related family, member 1 ENSG00000148600 CDHR1, PCDH21, PRCAD, CORD15, RP65 Autosomal recessive 613660 Retinitis pigmentosa 65 3 +600342 RGR Retinal G protein coupled receptor ENSG00000148604 RGR, RP44 613769 Retinitis pigmentosa 44 3 +605906 LDB3 LIM domain binding 3 ENSG00000122367 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 Autosomal dominant 601493 Cardiomyopathy, dilated, 1C, with or without LVNC 3 +605906 LDB3 LIM domain binding 3 ENSG00000122367 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 Autosomal dominant 601493 Cardiomyopathy, hypertrophic, 24 3 +605906 LDB3 LIM domain binding 3 ENSG00000122367 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 Autosomal dominant 601493 Left ventricular noncompaction 3 3 +605906 LDB3 LIM domain binding 3 ENSG00000122367 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 Autosomal dominant 609452 Myopathy, myofibrillar, 4 3 +601299 BMPR1A Bone morphogenetic protein receptor, type IA ENSG00000107779 BMPR1A, ACVRLK3, ALK3 Autosomal dominant 174900 Juvenile polyposis syndrome, infantile form 3 +601299 BMPR1A Bone morphogenetic protein receptor, type IA ENSG00000107779 BMPR1A, ACVRLK3, ALK3 610069 Polyposis syndrome, hereditary mixed, 2 3 +601299 BMPR1A Bone morphogenetic protein receptor, type IA ENSG00000107779 BMPR1A, ACVRLK3, ALK3 Autosomal dominant 174900 Polyposis, juvenile intestinal 3 +138130 GLUD1 Glutamate dehydrogenase-1 ENSG00000148672 GLUD1 pseudogene on Xq26-q28 Autosomal dominant 606762 Hyperinsulinism-hyperammonemia syndrome 3 +605391 MINPP1 Multiple inositol polyphosphate phosphatase 1 ENSG00000107789 MINPP1, HIPER1 Autosomal dominant 188470 Thyroid carcinoma, follicular 3 +603005 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ENSG00000198682 PAPSS2, ATPSK2, BCYM4 Autosomal recessive 612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 3 +613006 Diabetes mellitus, insulin-dependent, 24 IDDM24 associated with rs10509540 613006 Diabetes mellitus, insulin-dependent, 24 2 +609578 Cardiomyopathy, familial restrictive, 2 RCM2 max lod at D10S1242 609578 Cardiomyopathy, familial restrictive, 2 2 +612105 KLLN Killin ENSG00000227268 KLLN, CWS4 615107 Cowden syndrome 4 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal dominant 153480 Bannayan-Riley-Ruvalcaba syndrome 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal dominant 158350 Cowden syndrome 1 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 608089 Endometrial carcinoma, somatic 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 613028 Glioma susceptibility 2 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal dominant 158350 Lhermitte-Duclos syndrome 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal dominant 605309 Macrocephaly/autism syndrome 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 155600 Malignant melanoma, somatic 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal dominant 607174 Meningioma 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 PTEN hamartoma tumor syndrome 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 176807 Prostate cancer, somatic 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 275355 Squamous cell carcinoma, head and neck, somatic 3 +601728 PTEN Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) ENSG00000171862 PTEN, MMAC1, GLM2, CWS1 Autosomal recessive 276950 VATER association with macrocephaly and ventriculomegaly 3 +613924 LIPN Lipase family, member N ENSG00000204020 LIPN, LIPL4, ARCI8, LI4 Autosomal recessive 613943 Ichthyosis, congenital, autosomal recessive 8 3 +102620 ACTA2 Actin, alpha-2, smooth muscle, aorta ENSG00000107796 ACTA2, ACTSA, AAT6, MYMY5 Autosomal dominant 611788 Aortic aneurysm, familial thoracic 6 3 +102620 ACTA2 Actin, alpha-2, smooth muscle, aorta ENSG00000107796 ACTA2, ACTSA, AAT6, MYMY5 614042 Moyamoya disease 5 3 +102620 ACTA2 Actin, alpha-2, smooth muscle, aorta ENSG00000107796 ACTA2, ACTSA, AAT6, MYMY5 Autosomal dominant 613834 Multisystemic smooth muscle dysfunction syndrome 3 +134637 FAS Fas cell surface death receptor ENSG00000026103 FAS, TNFRSF6, APT1, CD95, ALPS1A Autosomal dominant 601859 Autoimmune lymphoproliferative syndrome, type IA 3 +134637 FAS Fas cell surface death receptor ENSG00000026103 FAS, TNFRSF6, APT1, CD95, ALPS1A Autosomal dominant 601859 Autoimmune lymphoproliferative syndrome 3 +134637 FAS Fas cell surface death receptor ENSG00000026103 FAS, TNFRSF6, APT1, CD95, ALPS1A Squamous cell carcinoma, burn scar-related, somatic 3 +613497 LIPA Lipase A, lysosomal acid, cholesterol esterase ENSG00000107798 LIPA, CESD ?close to GOT Autosomal recessive 278000 Cholesteryl ester storage disease 3 +613497 LIPA Lipase A, lysosomal acid, cholesterol esterase ENSG00000107798 LIPA, CESD ?close to GOT Autosomal recessive 278000 Wolman disease 3 +611910 SLC16A12 Solute carrier family 16 (monocarboylic acid transporter), member 12 ENSG00000152779 SLC16A12, MCT12, CTRCT47 mutation identified in 1 CTRCT47 family Autosomal dominant 612018 Cataract 47, juvenile, with microcornea 3 +148760 KIF11 Kinesin family member 11 ENSG00000138160 KIF11, KNSL1, MCLMR Autosomal dominant 152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 3 +608428 CYP26C1 Cytochrome P450, subfamily XXVIC, polypeptide 1 ENSG00000187553 CYP26C1, FFDD4 Autosomal recessive 614974 Focal facial dermal dysplasia 4 3 +609044 FFAR4 Free fatty acid receptor 4 ENSG00000186188 FFAR4, O3FAR1, GPR120, PGR4, BMIQ10 607514 Obesity, susceptibility to 3 +180250 RBP4 Retinol-binding protein-4, interstitial ENSG00000138207 RBP4, RDCCAS, MCOPCB10 just centromeric of CYP2C cluster Autosomal dominant 616428 Microphthalmia, isolated, with coloboma 10 3 +180250 RBP4 Retinol-binding protein-4, interstitial ENSG00000138207 RBP4, RDCCAS, MCOPCB10 just centromeric of CYP2C cluster Autosomal recessive 615147 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 3 +600827 PDE6C Phosphodiesterase-6C, cGMP-specific, cone, alpha prime ENSG00000095464 PDE6C, PDEA2, COD4 Autosomal recessive 613093 Cone dystrophy 4 3 +604619 LGI1 Leucine-rich gene, glioma-inactivated, 1 ENSG00000108231 LGI1, EPT, ETL1, ADLTE, ADPEAF Autosomal dominant 600512 Epilepsy, familial temporal lobe, 1 3 +608414 PLCE1 Phospholipase C, epsilon-1 ENSG00000138193 PLCE1, KIAA1516, NPHS3 Autosomal recessive 610725 Nephrotic syndrome, type 3 3 +603946 HELLS Helicase, lymphoid-specific ENSG00000119969 HELLS, LSH, ICF4 Autosomal recessive 616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 3 +124020 CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) ENSG00000165841 CYP2C, CYP2C19 4 genes in order: cen-C18-C19-C9-C8-tel Autosomal recessive 609535 Clopidogrel, impaired responsiveness to 3 +124020 CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) ENSG00000165841 CYP2C, CYP2C19 4 genes in order: cen-C18-C19-C9-C8-tel Autosomal recessive 609535 Mephenytoin poor metabolizer 3 +124020 CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) ENSG00000165841 CYP2C, CYP2C19 4 genes in order: cen-C18-C19-C9-C8-tel Autosomal recessive 609535 Omeprazole poor metabolizer 3 +124020 CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) ENSG00000165841 CYP2C, CYP2C19 4 genes in order: cen-C18-C19-C9-C8-tel Autosomal recessive 609535 Proguanil poor metabolizer 3 +601130 CYP2C9 Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 ENSG00000138109 CYP2C9 Tolbutamide poor metabolizer 3 +601130 CYP2C9 Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 ENSG00000138109 CYP2C9 Autosomal dominant 122700 Warfarin sensitivity 3 +601129 CYP2C8 Cytochrome P450, subfamily IIc, polypeptide 8 ENSG00000138115 CYP2C8 Rhabdomyolysis, cerivastatin-induced 3 +605526 Alzheimer disease 6 AD6 605526 Alzheimer disease 6 2 +606483 Charcot-Marie-Tooth disease, dominant intermediate A CMTDIA Autosomal dominant 606483 Charcot-Marie-Tooth disease, dominant intermediate A 2 +246560 Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome) SHFM3, SHSF3, DUP10q24, C10DUPq24 contiguous gene duplication syndrome Autosomal dominant 246560 Split-hand/foot malformation 3, gene duplication syndrome 4 +138250 ALDH18A1 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ENSG00000059573 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 GOT1 and GSAS in same pathway Autosomal dominant 616603 Cutis laxa, autosomal dominant 3 3 +138250 ALDH18A1 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ENSG00000059573 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 GOT1 and GSAS in same pathway Autosomal recessive, Isolated cases 219150 Cutis laxa, autosomal recessive, type IIIA 3 +138250 ALDH18A1 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ENSG00000059573 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 GOT1 and GSAS in same pathway Autosomal dominant 601162 Spastic paraplegia 9A, autosomal dominant 3 +138250 ALDH18A1 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ENSG00000059573 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 GOT1 and GSAS in same pathway Autosomal recessive 616586 Spastic paraplegia 9B, autosomal recessive 3 +613847 TCTN3 Tectonic family, member 3 ENSG00000119977 TCTN3, TECT3, C10orf61, OFD4, JBTS18 Autosomal recessive 614815 Joubert syndrome 18 3 +613847 TCTN3 Tectonic family, member 3 ENSG00000119977 TCTN3, TECT3, C10orf61, OFD4, JBTS18 Autosomal recessive 258860 Orofaciodigital syndrome IV 3 +601752 ENTPD1 Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen) ENSG00000138185 ENTPD1, CD39, SPG64 Autosomal recessive 615683 Spastic paraplegia 64, autosomal recessive 3 +604515 BLNK B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD) ENSG00000095585 BLNK, SLP65, AGM4 Autosomal recessive 613502 Agammaglobulinemia 4 3 +613597 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 ENSG00000241935 HOGA1, DHDPSL, HP3 613616 Hyperoxaluria, primary, type III 3 +610243 ZFYVE27 Zinc finger FYVE domain-containing protein 27 ENSG00000155256 ZFYVE27, SPG33 Autosomal dominant 610244 Spastic paraplegia 33, autosomal dominant 3 +604982 HPS1 HPS gene 1 ENSG00000107521 HPS1 Autosomal recessive 203300 Hermansky-Pudlak syndrome 1 3 +613469 HPSE2 Heparanase 2 ENSG00000172987 HPSE2, HPA2, UFS1 Autosomal recessive 236730 Urofacial syndrome 1 3 +138180 GOT1 Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1) ENSG00000120053 GOT1, ASTQTL1 10q26.1 = conflicting localization 614419 Aspartate aminotransferase, serum level of, QTL1 3 +603646 COX15 Cytochrome c oxidase, subunit 15 ENSG00000014919 COX15, CEMCOX2 Autosomal recessive 615119 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 3 +603646 COX15 Cytochrome c oxidase, subunit 15 ENSG00000014919 COX15, CEMCOX2 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to cytochrome c oxidase deficiency 3 +601107 ABCC2 ATP-binding cassette, subfamily C, member 2 (canalicular multispecific organic anion transporter) ENSG00000023839 ABCC2, CMOAT Autosomal recessive 237500 Dubin-Johnson syndrome 3 +603103 CPN1 Carboxypeptidase N, polypeptide 1, 50-kD ENSG00000120054 CPN1, SCPN, CPN Autosomal recessive 212070 Carboxypeptidase N deficiency 3 +611604 ERLIN1 Endoplasmic reticulum lipid raft-associated protein 1 ENSG00000107566 ERLIN1, SPG62 Autosomal recessive 615681 Spastic paraplegia 62 3 +600664 CHUK Conserved helix-loop-helix ubiquitous kinase ENSG00000213341 CHUK, IKBKA, NFKBIKA, IKKA, IKK1 613630 Cocoon syndrome 3 +616120 CWF19L1 CWF19-like protein 1 ENSG00000095485 CWF19L1, C19L1, SCAR17 Autosomal recessive 616127 Spinocerebellar ataxia, autosomal recessive 17 3 +167409 PAX2 Paired box homeotic gene-2 ENSG00000075891 PAX2, PAPRS, FSGS7 Autosomal dominant 616002 Glomerulosclerosis, focal segmental, 7 3 +167409 PAX2 Paired box homeotic gene-2 ENSG00000075891 PAX2, PAPRS, FSGS7 Autosomal dominant 120330 Papillorenal syndrome 3 +606075 C10orf2 T7 gene 4-like protein with intramitochondrial nucleoid localization ENSG00000107815 C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 PEO digenic with POLG Autosomal recessive 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 3 +606075 C10orf2 T7 gene 4-like protein with intramitochondrial nucleoid localization ENSG00000107815 C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 PEO digenic with POLG Autosomal recessive 616138 Perrault syndrome 5 3 +606075 C10orf2 T7 gene 4-like protein with intramitochondrial nucleoid localization ENSG00000107815 C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 PEO digenic with POLG Autosomal dominant 609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 3 +612971 PDZD7 PDZ domain-containing 7 ENSG00000186862 PDZD7 Autosomal recessive 276901 Retinal disease in Usher syndrome type IIA, modifier of 3 +612971 PDZD7 PDZ domain-containing 7 ENSG00000186862 PDZD7 Autosomal recessive, Digenic dominant 605472 Usher syndrome, type IIC, GPR98/PDZD7 digenic 3 +614927 Ectodermal dysplasia 5, hair/nail type ECTD5 between D10S1239 and D10S1264 Autosomal recessive 614927 Ectodermal dysplasia 5, hair/nail type 2 +600483 FGF8 Fibroblast growth factor-8 ENSG00000107831 FGF8, HH6 612702 Hypogonadotropic hypogonadism 6 with or without anosmia 3 +607522 HPS6 HPS gene 6 ENSG00000166189 HPS6, RU 614075 Hermansky-Pudlak syndrome 6 3 +602669 PITX3 Paired-like homeodomain transcription factor-3 ENSG00000107859 PITX3, CTPP4, CTRCT11 Autosomal dominant 107250 Anterior segment mesenchymal dysgenesis 3 +602669 PITX3 Paired-like homeodomain transcription factor-3 ENSG00000107859 PITX3, CTPP4, CTRCT11 Autosomal dominant 610623 Cataract 11, multiple types 3 +602669 PITX3 Paired-like homeodomain transcription factor-3 ENSG00000107859 PITX3, CTPP4, CTRCT11 Autosomal dominant 610623 Cataract 11, syndromic 3 +164012 NFKB2 Nuclear factor of kappa light chain gene enhancer in B-cells 2 (p49/p100); oncogene Lyt-10 ENSG00000077150 NFKB2, LYT10, CVID10 Autosomal dominant 615577 Immunodeficiency, common variable, 10 3 +607035 SUFU Suppressor of fused ENSG00000107882 SUFU, SUFUXL, SUFUH Autosomal dominant 109400 Basal cell nevus syndrome 3 +607035 SUFU Suppressor of fused ENSG00000107882 SUFU, SUFUXL, SUFUH Autosomal dominant 155255 Medulloblastoma, desmoplastic 3 +607035 SUFU Suppressor of fused ENSG00000107882 SUFU, SUFUXL, SUFUH Autosomal dominant 607174 Meningioma, familial, susceptibility to 3 +609300 CYP17A1 Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase) ENSG00000148795 CYP17A1, CYP17, P450C17 at least 2 genes; distal to GOT1 Autosomal recessive 202110 17-alpha-hydroxylase/17,20-lyase deficiency 3 +609300 CYP17A1 Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase) ENSG00000148795 CYP17A1, CYP17, P450C17 at least 2 genes; distal to GOT1 Autosomal recessive 202110 17,20-lyase deficiency, isolated 3 +607803 CNNM2 Cyclin M2 ENSG00000148842 CNNM2, ACDP2, HOMG6, HOMGSMR Autosomal dominant 613882 Hypomagnesemia 6, renal 3 +607803 CNNM2 Cyclin M2 ENSG00000148842 CNNM2, ACDP2, HOMG6, HOMGSMR Autosomal recessive, Autosomal dominant 616418 Hypomagnesemia, seizures, and mental retardation 3 +600417 NT5C2 5' nucleotidase, cytosolic II ENSG00000076685 NT5C2, NT5B, PNT5, SPG45 Autosomal recessive 613162 Spastic paraplegia 45, autosomal recessive 3 +609750 Epilepsy, idiopathic generalized, susceptibility to 4 EIG4 between D16S397 and D16S3095 609750 Epilepsy, idiopathic generalized, susceptibility to 4 2 +603266 IDDM17 Insulin-dependent diabetes mellitus-17 IDDM17 603266 Diabetes mellitus, insulin-dependent, 17 2 +113811 COL17A1 Collagen XVII, alpha-1 polypeptide ENSG00000065618 COL17A1, BPAG2, ERED Autosomal recessive 226650 Epidermolysis bullosa, junctional, localisata variant 3 +113811 COL17A1 Collagen XVII, alpha-1 polypeptide ENSG00000065618 COL17A1, BPAG2, ERED Autosomal recessive 226650 Epidermolysis bullosa, junctional, non-Herlitz type 3 +113811 COL17A1 Collagen XVII, alpha-1 polypeptide ENSG00000065618 COL17A1, BPAG2, ERED Autosomal dominant 122400 Epithelial recurrent erosion dystrophy 3 +601568 ADD3 Adducin-3, gamma ENSG00000148700 ADD3, ADDL, CPSQ3 fusion with NUP98 in T-ALL Autosomal recessive 617008 Cerebral palsy, spastic quadriplegic, 3 3 +600020 MXI1 MAX-interacting protein 1 ENSG00000119950 MXI1 Neurofibrosarcoma 3 +600020 MXI1 MAX-interacting protein 1 ENSG00000119950 MXI1 Autosomal dominant 176807 Prostate cancer, susceptibility to 3 +606062 SMC3 Structural maintenance of chromosomes 3 ENSG00000108055 SMC3, CSPG6, HCAP, BAM, CDLS3 Autosomal dominant 610759 Cornelia de Lange syndrome 3 3 +613171 RBM20 RNA-binding motif protein 20 ENSG00000203867 RBM20 Autosomal dominant 613172 Cardiomyopathy, dilated, 1DD 3 +613605 BBIP1 BBSome interacting protein 1 ENSG00000214413 BBIP1, NCRNA00081, BBIP10, BBS18 mutation identified in 1 BBS18 family Autosomal recessive 615995 ?Bardet-Biedl syndrome 18 3 +602775 SHOC2 Suppressor of clear, C. elegans, homolog of ENSG00000108061 SHOC2, SIAA0862, SOC2, SUR8 Autosomal dominant 607721 Noonan-like syndrome with loose anagen hair 3 +602228 TCF7L2 Transcription factor 7-like 2 ENSG00000148737 TCF7L2, TCF4 Autosomal dominant 125853 Diabetes mellitus, type 2, susceptibility to 3 +603924 HABP2 Hyaluronan-binding protein 2 ENSG00000148702 HABP2, PHBP, HGFAL, FSAP, NMTC5 mutation identified in 1 NMTC5 family Autosomal dominant 616535 ?Thyroid cancer, nonmedullary, 5 3 +603924 HABP2 Hyaluronan-binding protein 2 ENSG00000148702 HABP2, PHBP, HGFAL, FSAP, NMTC5 mutation identified in 1 NMTC5 family Autosomal dominant 188050 Venous thromboembolism, susceptibility to 3 +109630 ADRB1 Adrenergic, beta-1-, receptor ENSG00000043591 ADRB1, ADRB1R, RHR close linkage to ADRA2R Congestive heart failure and beta-blocker response, modifier of 3 +109630 ADRB1 Adrenergic, beta-1-, receptor ENSG00000043591 ADRB1, ADRB1R, RHR close linkage to ADRA2R 607276 Resting heart rate 3 +246600 PNLIP Pancreatic lipase ENSG00000175535 PNLIP, PNLIPD Autosomal recessive 614338 Pancreatic lipase deficiency 1 +604294 VAX1 Ventral anterior homeo box 1 ENSG00000148704 VAX1, MCOPS11 mutation identified in one MCOPS11 family Autosomal recessive 614402 ?Microphthalmia, syndromic 11 3 +613655 KCNK18 Potassium channel, subfamily K, member 18 ENSG00000186795 KCNK18, TRESK, TRIK, MGR13 613656 Migraine, with or without aura, susceptibility to, 13 3 +615163 CORD17 Cone-rod dystrophy 17 CORD17 between D10S1757 and D10S1782 Autosomal dominant 615163 Cone-rod dystrophy 17 2 +609625 Chromosome 10q26 deletion syndrome DEL10q26, C10q26DEL Autosomal dominant 609625 Chromosome 10q26 deletion syndrome 4 +131200 Endometriosis, susceptibility to, 1 ENDO1 max lod at D10S587 Autosomal recessive, Multifactorial 131200 Endometriosis, susceptibility to, 1 2 +609116 Respiratory rhythmicity in sleep RRIS 609116 Respiratory rhythmicity in sleep 2 +600035 EMX2 Empty spiracles, Drosophila, homolog of, 2 ENSG00000170370 EMX2 close to VAX1 269160 Schizencephaly 3 +608226 NANOS1 NANOS, Drosophila, homolog of, 1 ENSG00000188613 NANOS1, NOS1, SPGF12 Autosomal dominant 615413 Spermatogenic failure 12 3 +615564 SFXN4 Sideroflexin 4 ENSG00000183605 SFXN4, COXPD18 Autosomal recessive 615578 Combined oxidative phosphorylation deficiency 18 3 +603883 BAG3 BCL2-associated athanogene 3 ENSG00000151929 BAG3, MFM6 Autosomal dominant 613881 Cardiomyopathy, dilated, 1HH 3 +603883 BAG3 BCL2-associated athanogene 3 ENSG00000151929 BAG3, MFM6 Autosomal dominant 612954 Myopathy, myofibrillar, 6 3 +606417 WDR11 WD repeat-containing protein 11 ENSG00000120008 WDR11, DR11, KIAA1351, BRWD2, HH14 Autosomal dominant 614858 Hypogonadotropic hypogonadism 14 with or without anosmia 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal recessive 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 101200 Apert syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 123790 Beare-Stevenson cutis gyrata syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 614592 Bent bone dysplasia syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 101600 Craniofacial-skeletal-dermatologic dysplasia 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Craniosynostosis, nonspecific 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 123500 Crouzon syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS 613659 Gastric cancer, somatic 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 123150 Jackson-Weiss syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 149730 LADD syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 101600 Pfeiffer syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Autosomal dominant 101400 Saethre-Chotzen syndrome 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS Scaphocephaly and Axenfeld-Rieger anomaly 3 +176943 FGFR2 Fibroblast growth factor receptor-2 (bacteria-expressed kinase) ENSG00000066468 FGFR2, BEK, CFD1, JWS, TK14, BBDS 609579 Scaphocephaly, maxillary retrusion, and mental retardation 3 +611313 ARMS2 LOC387715 gene ENSG00000254636 LOC387715, ARMD8 613778 Macular degeneration, age-related, 8 3 +602194 HTRA1 HTRA serine peptidase 1 ENSG00000166033 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 Autosomal recessive 600142 CARASIL syndrome 3 +602194 HTRA1 HTRA serine peptidase 1 ENSG00000166033 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 Autosomal dominant 616779 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 3 +602194 HTRA1 HTRA serine peptidase 1 ENSG00000166033 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 610149 Macular degeneration, age-related, 7 3 +602194 HTRA1 HTRA serine peptidase 1 ENSG00000166033 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 610149 Macular degeneration, age-related, neovascular type 3 +600301 ACADSB Acyl-Coenzyme A dehydrogenase, short/branched chain ENSG00000196177 ACADSB, SBCAD Autosomal recessive 610006 2-methylbutyrylglycinuria 3 +613349 OAT Ornithine aminotransferase ENSG00000065154 OAT, GACR pseudogene at Xp11.2 Autosomal recessive 258870 Gyrate atrophy of choroid and retina with or without ornithinemia 3 +608416 MMP21 Matrix metalloproteinase 21 ENSG00000154485 MMP21, HTX7 Autosomal recessive 616749 Heterotaxy, visceral, 7, autosomal 3 +606938 UROS Uroporphyrinogen III synthase ENSG00000188690 UROS Autosomal recessive 263700 Porphyria, congenital erythropoietic 3 +166760 Otitis media susceptibility to OMS also 19q, 3p 166760 Otitis media, susceptibility to 2 +602292 ECHS1 Enoyl-CoA hydratase, short-chain, 1, mitochondrial ENSG00000127884 ECHS1, SCEH, ECHS1D Autosomal recessive 616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 3 +611486 SYCE1 Synaptonemal complex central element protein 1 ENSG00000171772 SYCE1, POF12, SPGF15 mutation identified in 1 POF12 and 1 SPGF15 family Autosomal recessive 616947 ?Premature ovarian failure 12 3 +611486 SYCE1 Synaptonemal complex central element protein 1 ENSG00000171772 SYCE1, POF12, SPGF15 mutation identified in 1 POF12 and 1 SPGF15 family Autosomal recessive 616950 ?Spermatogenic failure 15 3 +606528 Chromosome 11p15-p14 deletion syndrome (homozygous) DEL11p15p14, C11DELp15p14 contiguous gene deletion syndrome Autosomal recessive 606528 Chromosome 11p15-p14 deletion syndrome 4 +611010 GINGF4 Fibromatosis, gingival, 4 GINGF4, HGF4, GGF4 between D11S1984 and D11S1338 611010 Fibromatosis, gingival, 4 2 +604499 Hyperlipidemia, combined, 2 HYPLIP2 604499 Hyperlipidemia, combined, 2 2 +616186 H19-IGF2-imprinting control region ICR1 Autosomal dominant 130650 Beckwith-Wiedemann syndrome 3 +235000 Hemihyperplasia, isolated IH, HHP epigenetic or uniparental disomy Autosomal dominant 235000 Hemihypertrophy 2 +609470 Left ventricular noncompaction 2 LVNC2 max lod at D11S902 609470 Left ventricular noncompaction 2 2 +616792 Neuroblastoma, susceptiblity to, 7 NBLST7 associated with rs2168101 616792 Neuroblastoma, susceptibility to, 7 2 +600165 NNO1 Nanophthalmos 1 NNO1 Autosomal dominant 600165 Nanophthalmos-1 2 +607967 SLEN3 Systemic lupus erythematosus with nephritis, susceptibility to, 3 SLEN3 607967 Systemic lupus erythematosus with nephritis, susceptibility to, 3 2 +614757 IFITM5 Interferon-induced transmembrane protein 5 ENSG00000206013 IFITM5, OI5 Autosomal dominant 610967 Osteogenesis imperfecta, type V 3 +605579 IFITM3 Interferon-induced transmembrane protein 3 ENSG00000142089 IFITM3 614680 Influenza, severe, susceptibility to 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X 109800 Bladder cancer, somatic 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X Autosomal dominant, Isolated cases 218040 Congenital myopathy with excess of muscle spindles 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X Autosomal dominant, Isolated cases 218040 Costello syndrome 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X 162900 Nevus sebaceous or woolly hair nevus, somatic 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X 163200 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X 137550 Spitz nevus or nevus spilus, somatic 3 +190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog ENSG00000276536 HRAS pseudogene HRASP on X 188470 Thyroid carcinoma, follicular, somatic 3 +605047 IRF7 Interferon regulatory factor 7 ENSG00000276561 IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39 mutation identified in 1 family Autosomal recessive 616345 ?Immunodeficiency 39 3 +126452 DRD4 Dopamine receptor D4 ENSG00000069696 DRD4 proximal to HRAS Autosomal dominant 143465 Attention deficit-hyperactivity disorder 3 +126452 DRD4 Dopamine receptor D4 ENSG00000069696 DRD4 proximal to HRAS Autonomic nervous system dysfunction 3 +126452 DRD4 Dopamine receptor D4 ENSG00000069696 DRD4 proximal to HRAS ?Autosomal dominant 601696 Novelty seeking personality 1 +602635 DEAF1 Deaf1, Drosophila, homolog of ENSG00000282712 DEAF1, SPN, ZMYND5, MRD24 Autosomal dominant 615828 Mental retardation, autosomal dominant 24 3 +602063 TALDO1 Transaldolase-1 ENSG00000177156 TALDO1 pseudogene on chr.1 Autosomal recessive 606003 Transaldolase deficiency 3 +609302 SLC25A22 Solute carrier family 25 (mitochondrial carrier, glutamate), member 22 ENSG00000177542 SLC25A22, GC1, EIEE3 Autosomal recessive 609304 Epileptic encephalopathy, early infantile, 3 3 +609059 PNPLA2 Patatin-like phospholipase domain-containing protein 2 ENSG00000177666 PNPLA2, TTS2, ATGL Autosomal recessive 610717 Neutral lipid storage disease with myopathy 3 +602243 CD151 CD151 antigen ENSG00000177697 CD151, PETA3, SFA1, MER2 179620 Blood group, Raph 3 +602243 CD151 CD151 antigen ENSG00000177697 CD151, PETA3, SFA1, MER2 609057 Nephropathy with pretibial epidermolysis bullosa and deafness 3 +600770 MUC5B Mucin 5, subtype B, tracheobronchial ENSG00000117983 MUC5B Autosomal dominant 178500 Pulmonary fibrosis, idiopathic, susceptibility to 3 +116840 CTSD Cathepsin D (lysosomal aspartyl protease) ENSG00000117984 CTSD, CPSD, CLN10 Autosomal recessive 610127 Ceroid lipofuscinosis, neuronal, 10 3 +191043 TNNI2 Troponin I, fast-twitch skeletal muscle isoform ENSG00000130598 TNNI2, AMCD2B, DA2B, FSSV Autosomal dominant 601680 Arthrogryposis multiplex congenita, distal, type 2B 3 +600692 TNNT3 Troponin-T3, skeletal, fast ENSG00000130595 TNNT3, AMCD2B, DA2B, FSSV Autosomal dominant 601680 Arthyrgryposis, distal, type 2B 3 +103280 H19 H19 gene ENSG00000130600 H19, D11S813E, ASM1, BWS, WT2 same 200kb fragment as IGF2 Autosomal dominant 130650 Beckwith-Wiedemann syndrome 3 +103280 H19 H19 gene ENSG00000130600 H19, D11S813E, ASM1, BWS, WT2 same 200kb fragment as IGF2 Isolated cases 180860 Silver-Russell syndrome 3 +103280 H19 H19 gene ENSG00000130600 H19, D11S813E, ASM1, BWS, WT2 same 200kb fragment as IGF2 Autosomal dominant, Somatic mutation 194071 Wilms tumor 2 3 +147470 IGF2 Insulin-like growth factor-2, or somatomedin A ENSG00000167244 IGF2, GRDF mutation identified in 1 GRDF family X-linked recessive 616489 ?Growth restriction, severe, with distinctive facies 3 +176730 INS Insulin ENSG00000254647 INS, MODY10, IDDM2 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Autosomal dominant 125852 Diabetes mellitus, insulin-dependent, 2 3 +176730 INS Insulin ENSG00000254647 INS, MODY10, IDDM2 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Autosomal dominant 606176 Diabetes mellitus, permanent neonatal 3 +176730 INS Insulin ENSG00000254647 INS, MODY10, IDDM2 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Autosomal dominant 616214 Hyperproinsulinemia 3 +176730 INS Insulin ENSG00000254647 INS, MODY10, IDDM2 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Autosomal dominant 613370 Maturity-onset diabetes of the young, type 10 3 +191290 TH Tyrosine hydroxylase ENSG00000180176 TH, TYH distal to HRAS1 Autosomal recessive 605407 Segawa syndrome, recessive 3 +186845 CD81 CD81 antigen (target of antiproliferative antibody-1) ENSG00000110651 CD81, TAPA1, CVID6 Autosomal recessive 613496 Immunodeficiency, common variable, 6 3 +607542 KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 ENSG00000282076 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Autosomal dominant 607554 Atrial fibrillation, familial, 3 3 +607542 KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 ENSG00000282076 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Autosomal recessive 220400 Jervell and Lange-Nielsen syndrome 3 +607542 KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 ENSG00000282076 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Autosomal dominant 192500 Long QT syndrome 1 3 +607542 KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 ENSG00000282076 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Autosomal dominant 192500 Long QT syndrome 1, acquired, susceptibility to 3 +607542 KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 ENSG00000282076 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 609621 Short QT syndrome 2 3 +604115 KCNQ1OT1 KCNQ1-overlapping transcript 1 ENSG00000269821 KCNQ1OT1, LIT1 Autosomal dominant 130650 Beckwith-Wiedemann syndrome 3 +600856 CDKN1C Cyclin-dependent kinase inhibitor 1C (p57, Kip2) ENSG00000273707 CDKN1C, KIP2, BWS, IMAGE rare cause of BWS Autosomal dominant 130650 Beckwith-Wiedemann syndrome 3 +600856 CDKN1C Cyclin-dependent kinase inhibitor 1C (p57, Kip2) ENSG00000273707 CDKN1C, KIP2, BWS, IMAGE rare cause of BWS Autosomal dominant 614732 IMAGE syndrome 3 +602631 SLC22A18 Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) ENSG00000110628 SLC22A1L, BWSCR1A, IMPT1 114480 Breast cancer, somatic 3 +602631 SLC22A18 Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) ENSG00000110628 SLC22A1L, BWSCR1A, IMPT1 211980 Lung cancer, somatic 3 +602631 SLC22A18 Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) ENSG00000110628 SLC22A1L, BWSCR1A, IMPT1 268210 Rhabdomyosarcoma, somatic 3 +615187 PGAP2 Post-GPI attachment to proteins 2 ENSG00000148985 PGAP2, FRAG1, HPMRS3, MRT17, MRT21 Autosomal recessive 614207 Hyperphosphatasia with mental retardation syndrome 3 3 +605921 STIM1 Stromal interaction molecule 1 ENSG00000167323 STIM1, TAM1, IMD10, STRMK Autosomal recessive 612783 Immunodeficiency 10 3 +605921 STIM1 Stromal interaction molecule 1 ENSG00000167323 STIM1, TAM1, IMD10, STRMK Autosomal dominant 160565 Myopathy, tubular aggregate, 1 3 +605921 STIM1 Stromal interaction molecule 1 ENSG00000167323 STIM1, TAM1, IMD10, STRMK Autosomal dominant 185070 Stormorken syndrome 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Autosomal dominant 141749 Delta-beta thalassemia 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Erythremias, beta- 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Autosomal dominant 140700 Heinz body anemias, beta- 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Autosomal dominant 141749 Hereditary persistence of fetal hemoglobin 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci 611162 Malaria, resistance to 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Methemoglobinemias, beta- 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci Autosomal recessive 603903 Sickle cell anemia 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci 603902 Thalassemia-beta, dominant inclusion-body 3 +141900 HBB Hemoglobin beta ENSG00000244734 HBB pseudogene HBBP1 between HBG and HBD loci 613985 Thalassemias, beta- 3 +142000 HBD Hemoglobin delta ENSG00000223609 HBD Thalassemia due to Hb Lepore 3 +142000 HBD Hemoglobin delta ENSG00000223609 HBD Thalassemia, delta- 3 +142200 HBG1 Hemoglobin, gamma A ENSG00000213934 HBG1 Autosomal dominant 141749 Fetal hemoglobin quantitative trait locus 1 3 +142250 HBG2 Hemoglobin, gamma G ENSG00000196565 HBG2, TNCY Autosomal dominant 613977 Cyanosis, transient neonatal 3 +142250 HBG2 Hemoglobin, gamma G ENSG00000196565 HBG2, TNCY Autosomal dominant 141749 Fetal hemoglobin quantitative trait locus 1 3 +152424 Locus control region beta LCRB 613985 Thalassemia, Hispanic gamma-delta-beta 3 +607608 SMPD1 Sphingomyelin phosphodiesterase-1, acid lysosomal ENSG00000166311 SMPD1, NPD Autosomal recessive 257200 Niemann-Pick disease, type A 3 +607608 SMPD1 Sphingomyelin phosphodiesterase-1, acid lysosomal ENSG00000166311 SMPD1, NPD Autosomal recessive 607616 Niemann-Pick disease, type B 3 +607998 TPP1 Tripeptidyl peptidase 1 ENSG00000166340 TPP1, CLN2, SCAR7 Autosomal recessive 204500 Ceroid lipofuscinosis, neuronal, 2 3 +607998 TPP1 Tripeptidyl peptidase 1 ENSG00000166340 TPP1, CLN2, SCAR7 Autosomal recessive 609270 Spinocerebellar ataxia, autosomal recessive 7 3 +603057 DCHS1 Dachsous, Drosophila, homolog of, 1 ENSG00000166341 DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2 Autosomal dominant 607829 Mitral valve prolapse 2 3 +603057 DCHS1 Dachsous, Drosophila, homolog of, 1 ENSG00000166341 DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2 Autosomal recessive 601390 Van Maldergem syndrome 1 3 +601197 TUB Tubby, mouse, homolog of ENSG00000166402 TUB, RDOB mutation identified in 1 RDOB family Autosomal recessive 616188 ?Retinal dystrophy and obesity 3 +186921 LMO1 LIM domain only 1 (rhombotin 1) ENSG00000166407 LMO1, RBTN1, RHOM1 186921 Leukemia, T-cell acute lymphoblastic 2 +607697 SBF2 SET binding factor 2 (myotubularin-related 13) ENSG00000133812 SBF2, MTMR13, CMT4B2 Autosomal recessive 604563 Charcot-Marie-Tooth disease, type 4B2 3 +102772 AMPD3 Adenosine monophosphate deaminase-3, isoform E ENSG00000133805 AMPD3 612874 AMP deaminase deficiency, erythrocytic 3 +189967 TEAD1 TEA domain family member 1 ENSG00000187079 TEAD1, TCF13, REF1 Autosomal dominant 108985 Sveinsson chorioretinal atrophy 3 +168450 PTH Parathyroid hormone ENSG00000152266 PTH ~9cM distal to CALC1; distal to MYOD Autosomal dominant 146200 Hypoparathyroidism, autosomal dominant 3 +168450 PTH Parathyroid hormone ENSG00000152266 PTH ~9cM distal to CALC1; distal to MYOD Autosomal dominant 146200 Hypoparathyroidism, autosomal recessive 3 +616107 FAR1 Fatty acyl CoA reductase 1 ENSG00000197601 FAR1, MLSTD2, PFCRD Autosomal recessive 616154 Peroxisomal fatty acyl-CoA reductase 1 disorder 3 +600098 RRAS2 Related Ras viral oncogene homolog 2 ENSG00000133818 RRAS2, TC21 Ovarian carcinoma 3 +608713 CYP2R1 Cytochrome P450, subfamily IIR, polypeptide 1 (vitamin D 25-hydroxylase) ENSG00000186104 CYP2R1 Autosomal recessive 600081 Rickets due to defect in vitamin D 25-hydroxylation 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR Autosomal dominant 606176 Diabetes mellitus, permanent neonatal, with neurologic features 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR 610582 Diabetes mellitus, transient neonatal, 3 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR Autosomal dominant 125853 Diabetes mellitus, type 2, susceptibility to 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR Autosomal dominant 606176 Diabetes, permanent neonatal 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR Autosomal recessive 601820 Hyperinsulinemic hypoglycemia, familial, 2 3 +600937 KCNJ11 Potassium inwardly-rectifying channel, subfamily J, member 11 ENSG00000187486 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13 4.5kb 3' of SUR Autosomal dominant 616329 Maturity-onset diabetes of the young, type 13 3 +600509 ABCC8 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ENSG00000006071 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +600509 ABCC8 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ENSG00000006071 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 Autosomal dominant 606176 Diabetes mellitus, permanent neonatal 3 +600509 ABCC8 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ENSG00000006071 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 610374 Diabetes mellitus, transient neonatal 2 3 +600509 ABCC8 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ENSG00000006071 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 Autosomal recessive, Autosomal dominant 256450 Hyperinsulinemic hypoglycemia, familial, 1 3 +600509 ABCC8 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ENSG00000006071 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 Autosomal dominant 240800 Hypoglycemia of infancy, leucine-sensitive 3 +605242 USH1C Harmonin (Usher syndrome 1C gene) ENSG00000006611 USH1C, DFNB18A Acadian and Samaritan variety Autosomal recessive 602092 Deafness, autosomal recessive 18A 3 +605242 USH1C Harmonin (Usher syndrome 1C gene) ENSG00000006611 USH1C, DFNB18A Acadian and Samaritan variety Autosomal recessive 276904 Usher syndrome, type 1C 3 +604487 OTOG Otogelin ENSG00000188162 OTOG, OTGN, DFNB18B Autosomal recessive 614945 Deafness, autosomal recessive 18B 3 +176258 KCNC1 Potassium voltage-gated channel, Shaw-related subfamily, member 1 ENSG00000129159 KCNC1, EPM7 Autosomal dominant 616187 Epilepsy, progressive myoclonic 7 3 +607521 HPS5 HPS gene 5 (ruby-eye 2, mouse, homolog of) ENSG00000110756 HPS5, RU2, KIAA1017 614074 Hermansky-Pudlak syndrome 5 3 +150000 LDHA Lactate dehydrogenase A ENSG00000134333 LDHA, LDH1, GSD11 Autosomal recessive 612933 Glycogen storage disease XI 3 +601387 TSG101 Tumor susceptibility gene 101 ENSG00000074319 TSG101 114480 Breast cancer, somatic 3 +600824 CSRP3 Cysteine- and glycine-rich protein 3 ENSG00000129170 CSRP3, CRP3, CLP, CMD1M, CMH12 mutation identified in 1 CMD1M family 607482 ?Cardiomyopathy, dilated, 1M 3 +600824 CSRP3 Cysteine- and glycine-rich protein 3 ENSG00000129170 CSRP3, CRP3, CLP, CMD1M, CMH12 mutation identified in 1 CMD1M family Autosomal dominant 612124 Cardiomyopathy, hypertrophic, 12 3 +604159 SLC6A5 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 ENSG00000165970 SLC6A5, GLYT2, HKPX3 Autosomal recessive, Autosomal dominant 614618 Hyperekplexia 3 3 +613636 Tuberculin skin test reactivity, absence of TST1 at chr11:26.37M 613636 Tuberculin skin test reactivity, absence of 2 +608662 ANO5 Anoctamin 5 ENSG00000171714 ANO5, TMEM16E, GDD1, LGMD2L Autosomal dominant 166260 Gnathodiaphyseal dysplasia 3 +608662 ANO5 Anoctamin 5 ENSG00000171714 ANO5, TMEM16E, GDD1, LGMD2L Autosomal recessive 613319 Miyoshi muscular dystrophy 3 3 +608662 ANO5 Anoctamin 5 ENSG00000171714 ANO5, TMEM16E, GDD1, LGMD2L Autosomal recessive 611307 Muscular dystrophy, limb-girdle, type 2L 3 +613897 FANCF Fanconi anemia, complementation group F ENSG00000183161 FANCF 603467 Fanconi anemia, complementation group F 3 +610110 ANO3 Anoctamin 3 ENSG00000134343 ANO3, TMEM16C, C11orf25, DYT24 Autosomal dominant 615034 Dystonia 24 3 +612642 DFNA59 Deafness, autosomal dominant 59 DFNA59 between D22S929 and D11S480 Autosomal dominant 612642 Deafness, autosomal dominant 59 2 +613364 SPG41 Spastic paraplegia 41 SPG41 max lod 2.36; between D11S1324 and D11S1993 Autosomal dominant 613364 ?Spastic paraplegia 41, autosomal dominant 2 +606666 LGR4 Leucine-rich repeat-containing G protein-coupled receptor 4 ENSG00000205213 LGR4, GPR48, BNMD17 previously mapped to 5q34-q35.1 615311 Bone mineral density, low, susceptibility to 3 +113505 BDNF Brain-derived neurotrophic factor ENSG00000176697 BDNF, BULN2, ANON2 homeology with NRF3 on 12p; at p14 boundary 610269 Anorexia nervosa, susceptibility to 3 +113505 BDNF Brain-derived neurotrophic factor ENSG00000176697 BDNF, BULN2, ANON2 homeology with NRF3 on 12p; at p14 boundary Multifactorial 607499 Bulimia nervosa, age of onset of weight loss in 3 +113505 BDNF Brain-derived neurotrophic factor ENSG00000176697 BDNF, BULN2, ANON2 homeology with NRF3 on 12p; at p14 boundary Autosomal dominant 209880 Central hypoventilation syndrome, congenital 3 +113505 BDNF Brain-derived neurotrophic factor ENSG00000176697 BDNF, BULN2, ANON2 homeology with NRF3 on 12p; at p14 boundary Memory impairment, susceptibility to 3 +113505 BDNF Brain-derived neurotrophic factor ENSG00000176697 BDNF, BULN2, ANON2 homeology with NRF3 on 12p; at p14 boundary Autosomal dominant 164230 Obsessive-compulsive disorder, protection against 3 +136530 FSHB Follicle-stimulating hormone, beta polypeptide ENSG00000131808 FSHB, HH24 distal to AN2 Autosomal recessive 229070 Hypogonadotropic hypogonadism 24 without anosmia 3 +607644 CANDN1 Candidiasis, familial, 3 CANDF3, CANDN1, FCNC between D11S1312 and D11S4191 Autosomal dominant 607644 Candidiasis, familial, 3 2 +616902 Chromosome 11p13 deletion syndrome, distal DEL11p13, C11DELp13 Autosomal dominant 616902 Chromosome 11p13 deletion syndrome, distal 4 +194072 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (chromosome 11p13 deletion syndrome) DEL11p13, C11DELp13, WAGR deletion of WT1 and PAX6 genes Autosomal dominant, Somatic mutation 194072 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 4 +609941 DFNB51 Deafness, autosomal recessive 51 DFNB51 max lod at D11S4102 Autosomal recessive 609941 Deafness, autosomal recessive 51 2 +117100 Centrotemporal epilepsy ECT, BECTS previously assigned to 15q14 Isolated cases 117100 Centrotemporal epilepsy 2 +605750 EVR3 Exudative vitreoretinopathy 3 EVR3 Autosomal dominant 605750 Exudative vitreoretinopathy 3 2 +614344 MRT23 Mental retardation, autosomal recessive 23 MRT23 between rs604518 and rs10899421 Autosomal recessive 614344 Mental retardation, autosomal recessive 23 2 +609256 MYP7 Myopia 7 MYP7 Multifactorial 609256 Myopia 7 2 +612469 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome WAGRO, DEL11p14p12 contiguous gene deletion syndrome 612469 WAGRO syndrome 4 +606985 ELP4 Elongation protein 4, S. cerevisiae, homolog of ENSG00000109911 ELP4, PAX6NEB, AN mutation identified in 1 AN patients Autosomal dominant 106210 ?Aniridia 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 106210 Aniridia 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 106210 Cataract with late-onset corneal dystrophy 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 120430 Coloboma of optic nerve 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 120200 Coloboma, ocular 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 136520 Foveal hypoplasia 1 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 148190 Keratitis 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 120430 ?Morning glory disc anomaly 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient Autosomal dominant 165550 Optic nerve hypoplasia 3 +607108 PAX6 Paired box homeotic gene-6 ENSG00000007372 PAX6, AN2, MGDA, FVH1 mutation identified in 1 MGDA patient 604229 Peters anomaly 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT Autosomal dominant, Somatic mutation 194080 Denys-Drash syndrome 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT Autosomal dominant, Somatic mutation 136680 Frasier syndrome 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT 608978 Meacham syndrome 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT 156240 Mesothelioma, somatic 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT Autosomal dominant 256370 Nephrotic syndrome, type 4 3 +607102 WT1 Wilms tumor-1 ENSG00000184937 WT1, NPHS4 clumped: pter-FSHB-AN2-WT1-CAT Autosomal dominant, Somatic mutation 194070 Wilms tumor, type 1 3 +107271 CD59 CD59 antigen (p18-20) ENSG00000085063 CD59, MIC11 in mouse Ly-6 = multigene complex Autosomal recessive 612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 3 +180385 LMO2 LIM domain only 2 (rhombotin-like 1) ENSG00000135363 LMO2, RBTNL1, RHOM2, TTG2 3rd rhombotin gene not on 11 180385 Leukemia, acute T-cell 2 +115500 CAT Catalase ENSG00000121691 CAT cen-CAT-WT1-AN2-pter 614097 Acatalasemia 3 +608769 PDHX Pyruvate dehydrogenase complex, lipoyl-containing component X ENSG00000110435 PDX1 Autosomal recessive 245349 Lacticacidemia due to PDX1 deficiency 3 +107269 CD44 CD44 antigen (homing function) ENSG00000026508 CD44, MDU2, MDU3, MIC4, IN 609027 Blood group, Indian system 3 +600300 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 ENSG00000110436 SLC1A2, EAAT2, EIEE41 Autosomal dominant 617105 Epileptic encephalopathy, early infantile, 41 3 +611739 Bone mineral density QTL 8 BMND8 between D11S1392 and D11S4102 Autosomal dominant 166710 Osteoporosis 2 +610898 Supranuclear palsy, progressive, 3 PSNP3 610898 Supranuclear palsy, progressive, 3 2 +179615 RAG1 Recombination activating gene-1 ENSG00000166349 RAG1 assignment to 14 in error 609889 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity 3 +179615 RAG1 Recombination activating gene-1 ENSG00000166349 RAG1 assignment to 14 in error Autosomal recessive 233650 Combined cellular and humoral immune defects with granulomas 3 +179615 RAG1 Recombination activating gene-1 ENSG00000166349 RAG1 assignment to 14 in error Autosomal recessive 603554 Omenn syndrome 3 +179615 RAG1 Recombination activating gene-1 ENSG00000166349 RAG1 assignment to 14 in error Autosomal recessive 601457 Severe combined immunodeficiency, B cell-negative 3 +179616 RAG2 Recombination activating gene-2 ENSG00000175097 RAG2 assignment to 14 in error Autosomal recessive 233650 Combined cellular and humoral immune defects with granulomas 3 +179616 RAG2 Recombination activating gene-2 ENSG00000175097 RAG2 assignment to 14 in error Autosomal recessive 603554 Omenn syndrome 3 +179616 RAG2 Recombination activating gene-2 ENSG00000175097 RAG2 assignment to 14 in error Autosomal recessive 601457 Severe combined immunodeficiency, B cell-negative 3 +609630 Leukemia, chronic lymphocytic, susceptibility to, 1 CLLS1 609630 Leukemia, chronic lymphocytic, susceptibility to, 1 2 +616229 Osteogenesis imperfecta, type XVI (chromosome 11p11.2 deletion syndrome, 91.3kb) OI16, C16DELp11.2, DEL16p11.2 Autosomal recessive 616229 Osteogenesis imperfecta, type XVI 4 +601224 Potocki-Shaffer syndrome PSS contiguous gene syndrome caused by deletion of 11p11.2 601224 Potocki-Shaffer syndrome 4 +608210 EXT2 Exostosin 2 ENSG00000151348 EXT2, SSMS mutation identified in 1 SSMS family Autosomal dominant 133701 Exostoses, multiple, type 2 3 +608210 EXT2 Exostosin 2 ENSG00000151348 EXT2, SSMS mutation identified in 1 SSMS family Autosomal recessive 616682 ?Seizures, scoliosis, and macrocephaly syndrome 3 +605420 ALX4 Aristaless-like 4, mouse, homolog of ENSG00000052850 ALX4, PFM2, FPP, FND2, CRS5 Autosomal dominant 615529 Craniosynostosis 5, susceptibility to 3 +605420 ALX4 Aristaless-like 4, mouse, homolog of ENSG00000052850 ALX4, PFM2, FPP, FND2, CRS5 Autosomal recessive 613451 Frontonasal dysplasia 2 3 +605420 ALX4 Aristaless-like 4, mouse, homolog of ENSG00000052850 ALX4, PFM2, FPP, FND2, CRS5 Autosomal dominant 609597 Parietal foramina 2 3 +600623 CD82 CD82 antigen ENSG00000085117 CD82, SAR2, KAI1, ST6 Autosomal dominant 176807 Prostate cancer, susceptibility to 2 +605881 SLC35C1 Solute carrier family 35, member C1 (GDP-Fucose transporter 1) ENSG00000181830 SLC35C1, FUCT1, CDG2C Autosomal recessive 266265 Congenital disorder of glycosylation, type IIc 3 +604641 MAPK8IP1 Mitogen-activated protein kinase 8-interacting protein 1 ENSG00000121653 MAPK8IP1, IB1 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +603360 PEX16 Peroxisome biogenesis factor 16 ENSG00000121680 PEX16, PBD8A, PBD8B 614876 Peroxisome biogenesis disorder 8A, (Zellweger) 3 +603360 PEX16 Peroxisome biogenesis factor 16 ENSG00000121680 PEX16, PBD8A, PBD8B 614877 Peroxisome biogenesis disorder 8B 3 +616454 ZNF408 Zinc finger protein 408 ENSG00000175213 ZNF408, EVR6, RP72 mutation identified in 1 EVR6 family Autosomal dominant 616468 ?Exudative vitreoretinopathy 6 3 +616454 ZNF408 Zinc finger protein 408 ENSG00000175213 ZNF408, EVR6, RP72 mutation identified in 1 EVR6 family Autosomal recessive 616469 Retinitis pigmentosa 72 3 +176930 F2 Coagulation factor II (thrombin) ENSG00000180210 F2, THPH1, RPRGL2 Autosomal recessive 613679 Dysprothrombinemia 3 +176930 F2 Coagulation factor II (thrombin) ENSG00000180210 F2, THPH1, RPRGL2 Autosomal recessive 613679 Hypoprothrombinemia 3 +176930 F2 Coagulation factor II (thrombin) ENSG00000180210 F2, THPH1, RPRGL2 Autosomal dominant 614390 Pregnancy loss, recurrent, susceptibility to, 2 3 +176930 F2 Coagulation factor II (thrombin) ENSG00000180210 F2, THPH1, RPRGL2 Multifactorial 601367 Stroke, ischemic, susceptibility to 3 +176930 F2 Coagulation factor II (thrombin) ENSG00000180210 F2, THPH1, RPRGL2 Autosomal dominant 188050 Thrombophilia due to thrombin defect 3 +604270 LRP4 Low density lipoprotein receptor-related protein 4 ENSG00000134569 LRP4, MEGF7, CLSS, SOST2, CMS17 mutation identified in 1 CMS17 family Autosomal recessive 212780 Cenani-Lenz syndactyly syndrome 3 +604270 LRP4 Low density lipoprotein receptor-related protein 4 ENSG00000134569 LRP4, MEGF7, CLSS, SOST2, CMS17 mutation identified in 1 CMS17 family Autosomal recessive 616304 ?Myasthenic syndrome, congenital, 17 3 +604270 LRP4 Low density lipoprotein receptor-related protein 4 ENSG00000134569 LRP4, MEGF7, CLSS, SOST2, CMS17 mutation identified in 1 CMS17 family Autosomal recessive, Autosomal dominant 614305 Sclerosteosis 2 3 +600811 DDB2 Damage-specific DNA binding protein 2, 48kD ENSG00000134574 DDB2 Autosomal recessive 278740 Xeroderma pigmentosum, group E, DDB-negative subtype 3 +171650 ACP2 Acid phosphatase 2, lysosomal ENSG00000134575 ACP2 Autosomal recessive 200950 ?Lysosomal acid phosphatase deficiency 1 +600958 MYBPC3 Myosin-binding protein C, cardiac ENSG00000134571 MYBPC3, CMH4, CMD1MM, LVNC10 Autosomal dominant 615396 Cardiomyopathy, dilated, 1MM 3 +600958 MYBPC3 Myosin-binding protein C, cardiac ENSG00000134571 MYBPC3, CMH4, CMD1MM, LVNC10 Autosomal dominant 115197 Cardiomyopathy, hypertrophic, 4 3 +600958 MYBPC3 Myosin-binding protein C, cardiac ENSG00000134571 MYBPC3, CMH4, CMD1MM, LVNC10 Autosomal dominant 615396 Left ventricular noncompaction 10 3 +608735 SLC39A13 Solute carrier family 39 (zinc transporter), member 13 ENSG00000165915 SLC39A13 Autosomal recessive 612350 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 3 +601592 RAPSN Receptor-associated protein of the synapse, 43kD ENSG00000165917 RAPSN, CMS1D, CMS11, FADS Autosomal recessive 208150 Fetal akinesia deformation sequence 3 +601592 RAPSN Receptor-associated protein of the synapse, 43kD ENSG00000165917 RAPSN, CMS1D, CMS11, FADS Autosomal recessive 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 3 +603846 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kD ENSG00000213619 NDUFS3 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +603846 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kD ENSG00000213619 NDUFS3 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +600925 PTPRJ Protein tyrosine phosphatase, receptor type, J polypeptide ENSG00000149177 PTPRJ, DEP1 114500 Colon cancer, somatic 3 +612795 Polyunsaturated fatty acids plasma level QTL1 PURAQTL1 associated with rs174537 612795 Polyunsaturated fatty acids plasma level QTL1 2 +608687 Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome, 260kb) SCA20, DUP11q12, C11DUPq12 contiguous gene duplication syndrome Autosomal dominant 608687 Spinocerebellar ataxia 20 4 +606860 SERPING1 Complement component-1 inhibitor ENSG00000149131 C1NH, HAE1, HAE2, SERPING1 Autosomal dominant 106100 Angioedema, hereditary, types I and II 3 +606860 SERPING1 Complement component-1 inhibitor ENSG00000149131 C1NH, HAE1, HAE2, SERPING1 Autosomal dominant 120790 Complement component 4, partial deficiency of 3 +608757 CLP1 Cleavage and polyadenylation factor I subunit 1, yeast, homolog of ENSG00000172409 CLP1, HEAB, PCH10 Autosomal recessive 615803 Pontocerebellar hypoplasia, type 10 3 +615584 FAM111B Family with sequence similarity 111, member B ENSG00000189057 FAM111B, POIKTMP Autosomal dominant 615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 3 +615292 FAM111A Family with sequence similarity 111, member A ENSG00000166801 FAM111A, KIAA1895, KCS2, GCLEB Autosomal dominant 602361 Gracile bone dysplasia 3 +615292 FAM111A Family with sequence similarity 111, member A ENSG00000166801 FAM111A, KIAA1895, KCS2, GCLEB Autosomal dominant 127000 Kenny-Caffey syndrome, type 2 3 +609342 GIF Gastric intrinsic factor ENSG00000134812 GIF, IF Autosomal recessive 261000 Intrinsic factor deficiency 3 +147138 MS4A2 Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) ENSG00000149534 MS4A2, FCER1B Autosomal dominant 147050 Atopy, susceptibility to 3 +112210 MS4A1 Membrane-spanning 4-domains, subfamily A, member 1 ENSG00000156738 MS4A1, CD20, CVID5 Autosomal recessive 613495 Immunodeficiency, common variable, 5 3 +195000 ZP1 Zona pellucida glycoprotein 1 ENSG00000149506 ZP1, OOMD1 Autosomal recessive 615774 Oocyte maturation defect 1 3 +614459 TMEM138 Transmembrane protein 138 ENSG00000149483 TMEM138, JBTS16 Autosomal recessive 614465 Joubert syndrome 16 3 +613277 TMEM216 Transmembrane protein 216 ENSG00000187049 TMEM216, JBTS2, CORS2, MKS2 Autosomal recessive 608091 Joubert syndrome 2 3 +613277 TMEM216 Transmembrane protein 216 ENSG00000187049 TMEM216, JBTS2, CORS2, MKS2 Autosomal recessive 603194 Meckel syndrome 2 3 +613019 SDHAF2 Succinate dehydrogenase complex assembly factor 2 ENSG00000167985 SDHAF2, SDH5, PGL2 Autosomal dominant 601650 Paragangliomas 2 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 611809 Bestrophinopathy, autosomal recessive 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 Autosomal dominant 153700 Macular dystrophy, vitelliform, 2 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 Autosomal dominant 193220 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 613194 Retinitis pigmentosa, concentric 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 613194 Retinitis pigmentosa-50 3 +607854 BEST1 Bestrophin 1 ENSG00000167995 BEST1, VMD2, ARB, RP50 Autosomal dominant 193220 Vitreoretinochoroidopathy 3 +134770 FTH1 Ferritin, heavy polypeptide 1 ENSG00000167996 FTH1, FTHL6, HFE5 mutation identified in 1 family Autosomal dominant 615517 ?Hemochromatosis, type 5 3 +180721 ROM1 Rod outer segment membrane protein-1 ENSG00000149489 ROM1, ROSP1, RP7 digenic RP with RDS Autosomal recessive, Autosomal dominant 608133 Retinitis pigmentosa 7, digenic 3 +606374 B3GAT3 Beta-1,3-glucuronyltransferase 3 ENSG00000149541 B3GAT3, GLCATI, JDSCD pseudogene on chr.3 Autosomal recessive 245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 3 +104160 GANAB Neutral alpha-glucosidase AB ENSG00000089597 GANAB, PKD3 Autosomal dominant 600666 Polycyctic kidney disease 3 3 +616097 UQCC3 Ubiquinol-cytochrome C reductase complex assembly factor 3 ENSG00000204922 UQCC3, C11orf83, MC3DN9 mutation identified in 1 MC3DN9 patient Autosomal recessive 616111 ?Mitochondrial complex III deficiency, nuclear type 9 3 +606158 BSCL2 Seipin ENSG00000168000 BSCL2, SPG17, HMN5, PELD Autosomal recessive 615924 Encephalopathy, progressive, with or without lipodystrophy 3 +606158 BSCL2 Seipin ENSG00000168000 BSCL2, SPG17, HMN5, PELD Autosomal recessive 269700 Lipodystrophy, congenital generalized, type 2 3 +606158 BSCL2 Seipin ENSG00000168000 BSCL2, SPG17, HMN5, PELD Autosomal dominant 600794 Neuropathy, distal hereditary motor, type VA 3 +606158 BSCL2 Seipin ENSG00000168000 BSCL2, SPG17, HMN5, PELD Autosomal dominant 270685 Silver spastic paraplegia syndrome 3 +611958 Prostate cancer, hereditary, 14 HPC14 associated with rs7931342 611958 Prostate cancer, hereditary, 14 2 +600319 IDDM4 Insulin-dependent diabetes mellitus-4 IDDM4 600319 Diabetes mellitus, insulin-dependent, 4 2 +166750 Otodental dysplasia (chromosome 11q13 deletion syndrome) OTDD, DEL11q13, C11DELq13 between rs9666584 and rs41408348 Autosomal dominant 166750 Otodental dysplasia chromsome deletion syndrome 4 +607088 Spinal muscular atrophy, chronic distal, autosomal recessive SMAR no mutations found in IGHMBP2 Autosomal recessive 607088 Spinal muscular atrophy, chronic distal, autosomal recessive 2 +191181 ST3 Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell type) ST3 191181 Cervical carcinoma 2 +609369 ATL3 Atlastin 3 ENSG00000184743 ATL3, HSN1F Autosomal dominant 615632 Neuropathy, hereditary sensory, type IF 3 +123870 COX8A Cytochrome c oxidase, subunit VIIIA ENSG00000176340 COX8A mutation identified in 1 COX4D patient Autosomal recessive, Mitochondrial 220110 ?Mitochondrial complex IV deficiency 3 +607901 FERMT3 Kindlin 3 ENSG00000149781 KIND3, URP2, MIG2B, FERMT3 Autosomal recessive 612840 Leukocyte adhesion deficiency, type III 3 +607096 SLC22A12 Solute carrier family 22 (urate transporter), member 12 ENSG00000197891 SLC22A12, OAT4L, URAT1 Autosomal recessive 220150 Hypouricemia, renal 3 +605577 RASGRP2 Ras guanyl nucleotide-releasing protein 2 ENSG00000068831 RASGRP2, CDC25L mutation identified in 1 BDPLT18 family Autosomal recessive 615888 ?Bleeding disorder, platelet-type, 18 3 +608455 PYGM Phosphorylase, glycogen, muscle ENSG00000068976 PYGM Autosomal recessive 232600 McArdle disease 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Adrenal adenoma, somatic 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Angiofibroma, somatic 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Carcinoid tumor of lung 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Lipoma, somatic 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Autosomal dominant 131100 Multiple endocrine neoplasia 1 3 +613733 MEN1 Menin ENSG00000133895 MEN1 linked distal to PYGM Parathyroid adenoma, somatic 3 +114220 CAPN1 Calpain, large polypeptide L1 ENSG00000014216 CAPN1, SPG76 Autosomal recessive 616907 Spastic paraplegia 76, autosomal recessive 3 +607982 SCYL1 SCY1-like 1 ENSG00000142186 SCYL1, NTKL, SCAR21 Autosomal recessive 616719 Spinocerebellar ataxia, autosomal recessive 21 3 +602090 LTBP3 Latent transforming growth factor beta binding protein-3 ENSG00000168056 LTBP3, LTBP2, DASS Autosomal recessive 601216 Dental anomalies and short stature 3 +610330 RNASEH2C Ribonuclease H2, subunit C ENSG00000172922 RNASEH2C, AYP1, FLJ20974, AGS3 Autosomal recessive 610329 Aicardi-Goutieres syndrome 3 3 +604633 EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2 (fibulin 4) ENSG00000172638 EFEMP2, FBLN4, UPH1, ARCL1B Autosomal recessive 614437 Cutis laxa, autosomal recessive, type IB 3 +608296 FIBP Fibroblast growth factor, acidic, intracellular binding protein ENSG00000172500 FIBP, TROFAS Autosomal recessive 617107 Thauvin-Robinet-Faivre syndrome 3 +603811 BANF1 Barrier to autointegration factor 1 ENSG00000175334 BANF1, BAF, NGPS Autosomal recessive 614008 Nestor-Guillermo progeria syndrome 3 +606389 CATSPER1 Cation channel, sperm-associated, 1 ENSG00000175294 CATSPER1, CATSPER, SPGF7 Autosomal recessive 612997 Spermatogenic failure 7 3 +607492 PACS1 Phosphofurin acidic cluster sorting protein 1 ENSG00000175115 PACS1, SHMS, MRD17 Autosomal dominant 615009 Schuss-Hoeijmakers sydnrome 3 +611729 KLC2 Kinesin, light chain 2 ENSG00000174996 KLC2, SPOAN Autosomal recessive 609541 Spastic paraplegia, optic atrophy, and neuropathy 3 +605517 B4GAT1 Beta-1,3-N-acetylglucosaminyltransferase 1 ENSG00000174684 B3GNT1, IGNT, IGAT, MDDGA13 Autosomal recessive 615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 3 +209901 BBS1 BBS1 gene ENSG00000174483 BBS1 Autosomal recessive, Digenic recessive 209900 Bardet-Biedl syndrome 1 3 +102574 ACTN3 Actinin, alpha-3 ENSG00000248746 ACTN3 Alpha-actinin-3 deficiency 3 +102574 ACTN3 Actinin, alpha-3 ENSG00000248746 ACTN3 Sprinting performance 3 +603539 CTSF Cathepsin F ENSG00000174080 CTSF, CLN13 Autosomal recessive 615362 Ceroid lipofuscinosis, neuronal, 13, Kufs type 3 +604985 SPTBN2 Spectrin, beta, nonerythrocytic, 2 ENSG00000173898 SPTBN2, SCA5, SCAR14 Autosomal dominant 600224 Spinocerebellar ataxia 5 3 +604985 SPTBN2 Spectrin, beta, nonerythrocytic, 2 ENSG00000173898 SPTBN2, SCA5, SCAR14 Autosomal recessive 615386 Spinocerebellar ataxia, autosomal recessive 14 3 +608786 PC Pyruvate carboxylase ENSG00000173599 PC Autosomal recessive 266150 Pyruvate carboxylase deficiency 3 +607672 CLCF1 Cardiotrophin-like cytokine ENSG00000175505 CLCF1, BSF3, CLC, CISS2 Autosomal recessive 610313 Cold-induced sweating syndrome 2 3 +608965 CABP4 Calcium-binding protein 4 ENSG00000175544 CABP4, CRSD, CSNB2B Autosomal recessive 610427 Cone-rod synaptic disorder, congenital nonprogressive 3 +605555 AIP Aryl hydrocarbon receptor-interacting protein ENSG00000110711 AIP, XAP2, ARA9 Autosomal recessive 219090 Pituitary adenoma, ACTH-secreting 3 +605555 AIP Aryl hydrocarbon receptor-interacting protein ENSG00000110711 AIP, XAP2, ARA9 Autosomal dominant, Somatic mutation 102200 Pituitary adenoma, growth hormone-secreting 3 +605555 AIP Aryl hydrocarbon receptor-interacting protein ENSG00000110711 AIP, XAP2, ARA9 600634 Pituitary adenoma, prolactin-secreting 3 +607314 CABP2 Calcium-binding protein 2 ENSG00000167791 CABP2, DFNB93 Autosomal recessive 614899 Deafness, autosomal recessive 93 3 +161015 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kD ENSG00000167792 NDUFV1, UQOR1 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +608204 UNC93B1 UNC93, C. elegans, homolog of, B1 ENSG00000110057 UNC93B1, IIAE1 610551 Herpes simplex encephalitis, susceptibility to, 1 3 +602141 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kD (NADH-coenzyme Q reductase) ENSG00000110717 NDUFS8 previously assigned to 3q28 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +604592 TCIRG1 T-cell immune regulator 1 ENSG00000110719 TCIRG1, TIRC7, OC116, OPTB1 Autosomal recessive 259700 Osteopetrosis, autosomal recessive 1 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 601884 Bone mineral density variability 1 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal recessive, Autosomal dominant 601813 Exudative vitreoretinopathy 4 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 144750 Hyperostosis, endosteal 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 607634 Osteopetrosis, autosomal dominant 1 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal recessive 259770 Osteoporosis-pseudoglioma syndrome 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 166710 Osteoporosis 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 144750 Osteosclerosis 3 +603506 LRP5 Low density lipoprotein receptor-related protein-5 ENSG00000162337 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 Autosomal dominant 607636 van Buchem disease, type 2 3 +137035 GAL Galanin ENSG00000069482 GAL, GALN, GLNN, ETL8 mutation identified in 1 ETL8 family Autosomal dominant 616461 ?Epilepsy, familial temporal lobe, 8 3 +600528 CPT1A Carnitine palmitoyltransferase I, liver ENSG00000110090 CPT1A Autosomal recessive 255120 CPT deficiency, hepatic, type IA 3 +600502 IGHMBP2 Immunoglobulin mu binding protein 2 ENSG00000132740 IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S Autosomal recessive 616155 Charcot-Marie-Tooth disease, axonal, type 2S 3 +600502 IGHMBP2 Immunoglobulin mu binding protein 2 ENSG00000132740 IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S Autosomal recessive 604320 Neuronopathy, distal hereditary motor, type VI 3 +612163 TPCN2 Two-pore segment channel 2 ENSG00000162341 TPCN2, TPC2, SHEP10 612267 Skin/hair/eye pigmentation 10, blond/brown hair 3 +168461 CCND1 Cyclin D1 ENSG00000110092 CCND1, PRAD1, BCL1 pseudogene on 11q13 Autosomal dominant 114500 Colorectal cancer, susceptibility to 3 +168461 CCND1 Cyclin D1 ENSG00000110092 CCND1, PRAD1, BCL1 pseudogene on 11q13 Somatic mutation 254500 Multiple myeloma, susceptibility to 3 +168461 CCND1 Cyclin D1 ENSG00000110092 CCND1, PRAD1, BCL1 pseudogene on 11q13 Autosomal dominant 193300 von Hippel-Lindau syndrome, modifier of 3 +164950 FGF3 Fibroblast growth factor-3 (oncogene INT2) ENSG00000186895 FGF3, INT2 35kb 5' to HST1 Autosomal recessive 610706 Deafness, congenital with inner ear agenesis, microtia, and microdontia 3 +602457 FADD FAS-associating protein with death domain ENSG00000168040 FADD Autosomal recessive 613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 3 +603290 SHANK2 SH3 and multiple ankyrin repeat domains 2 ENSG00000162105 SHANK2, CORTBP1, AUTS17 613436 Autism susceptibility 17 3 +602858 DHCR7 Delta-7-dehydrocholesterol reductase ENSG00000172893 DHCR7, SLOS Autosomal recessive 270400 Smith-Lemli-Opitz syndrome 3 +164009 NUMA1 Nuclear mitotic apparatus protein-1 ENSG00000137497 NUMA1 fused with RARA in APL 612376 Leukemia, acute promyelocytic, somatic 3 +612414 LRTOMT Leucine-rich transmembrane O-methyltransferase ENSG00000184154 LRTOMT, LRTOMT1, LRTOMT2, DFNB63 Autosomal recessive 611451 Deafness, autosomal recessive 63 3 +136430 FOLR1 Folate receptor-1, adult ENSG00000110195 FOLR1 telomeric of FGF3 Autosomal recessive 613068 Neurodegeneration due to cerebral folate transport deficiency 3 +600829 INPPL1 Inositol polyphosphate phosphatase-like 1 ENSG00000165458 INPPL1, OPSMD Autosomal recessive 258480 Opsismodysplasia 3 +602753 PHOX2A Paired-like (astraless) homeobox 2a ENSG00000165462 PHOX2A, ARIX, CFEOM2 Autosomal recessive 602078 Fibrosis of extraocular muscles, congenital, 2 3 +616254 CLPB Caseinolytic peptidase B ENSG00000162129 CLPB, SKD3, MEGCANN, MGCA7 Autosomal recessive 616271 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 3 +610263 DNAJB13 DNAJ/HSP40 homolog, subfamily B, member 13 ENSG00000187726 DNAJB13, TSARG6, CILD34 Autosomal recessive 617091 Ciliary dyskinesia, primary, 34 3 +601693 UCP2 Uncoupling protein-2 ENSG00000175567 UCP2, BMIQ4 607447 Obesity, susceptibility to, BMIQ4 3 +602044 UCP3 Uncoupling protein-3 ENSG00000175564 UCP3 Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, severe, and type II diabetes 3 +615944 C2CD3 C2 calcium-dependent domain-containing protein 3 ENSG00000168014 C2CD3, OFD14 mutation identified in 1 OFD14 patient and 1 OFD14 fetus Autosomal recessive 615948 ?Orofaciodigital syndrome XIV 3 +604433 KCNE3 Potassium voltage-gated channel, ISK-related subfamily, member 3 ENSG00000175538 KCNE3, HOKPP, HYPP 613119 Brugada syndrome 6 3 +613064 Dermatitis, atopic, 7 ATOD7 associated with rs7927894 613064 Dermatitis, atopic, susceptibility to, 7 2 +600943 SERPINH1 Serpin peptidase inhibitor, clade H, member 1 ENSG00000149257 SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10 mutation identified in 1 OI10 patient Autosomal recessive 613848 ?Osteogenesis imperfecta, type X 3 +600943 SERPINH1 Serpin peptidase inhibitor, clade H, member 1 ENSG00000149257 SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10 mutation identified in 1 OI10 patient 610504 Preterm premature rupture of the membranes, susceptibility to 3 +602537 CAPN5 Calpain 5 ENSG00000149260 CAPN5, HTRA3, VRNI Autosomal dominant 193235 Vitreoretinopathy, neovascular inflammatory 3 +276903 MYO7A Myosin VIIA ENSG00000137474 MYO7A, USH1B, DFNB2, DFNA11 Autosomal dominant 601317 Deafness, autosomal dominant 11 3 +276903 MYO7A Myosin VIIA ENSG00000137474 MYO7A, USH1B, DFNB2, DFNA11 Autosomal recessive 600060 Deafness, autosomal recessive 2 3 +276903 MYO7A Myosin VIIA ENSG00000137474 MYO7A, USH1B, DFNB2, DFNA11 Autosomal recessive 276900 Usher syndrome, type 1B 3 +612017 Pyloric stenosis, infantile hypertrophic, 3 IHPS3 max lod at rs541821 612017 Pyloric stenosis, infantile hypertrophic, 3 2 +603342 SCZD2 Schizophrenia susceptibility locus, chromosome 11-related SCZD2 Autosomal dominant 181500 ?Schizophrenia 2 +607279 SLEH1 Systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 SLEH1 607279 Systemic lupus erythematosus with hemolytic anemia 2 +608103 ALG8 Alg8, S. cerevisiae, homolog of ENSG00000159063 ALG8, CDG1H 608104 Congenital disorder of glycosylation, type Ih 3 +612803 NARS2 Asparaginyl-tRNA synthetase 2 ENSG00000137513 NARS2, COXPD24 Autosomal recessive 616239 Combined oxidative phosphorylation deficiency 24 3 +610084 TENM4 Teneurin transmembrane protein 4 ENSG00000149256 TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5 Autosomal dominant 616736 Tremor, hereditary essential, 5 3 +615533 TMEM126B Transmembrane protein 126B ENSG00000171204 TMEM126B Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +612988 TMEM126A Transmembrane protein 126A ENSG00000171202 TMEM126A, OPA7 Autosomal recessive 612989 Optic atrophy 7 3 +603025 PICALM Phosphatidylinositol-binding clathrin assembly protein ENSG00000073921 PICALM, CALM, CLTH, LAP fuses with AF10 in t(10;11) 601626 Leukemia, acute myeloid, somatic 3 +614908 HIKESHI Hikeshi ENSG00000149196 C11orf73, HIKESHI, HLD13 Autosomal recessive 616881 Leukodystrophy, hypomyelinating, 13 3 +604579 FZD4 Frizzled, Drosophila, homolog of, 4 ENSG00000174804 FZD4, EVR1 Autosomal dominant 133780 Exudative vitreoretinopathy 1 3 +604579 FZD4 Frizzled, Drosophila, homolog of, 4 ENSG00000174804 FZD4, EVR1 Autosomal dominant 133780 Retinopathy of prematurity 3 +602365 CTSC Cathepsin C ENSG00000109861 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD Autosomal recessive 245010 Haim-Munk syndrome 3 +602365 CTSC Cathepsin C ENSG00000109861 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD Autosomal recessive 245000 Papillon-Lefevre syndrome 3 +602365 CTSC Cathepsin C ENSG00000109861 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD Autosomal recessive 170650 Periodontitis 1, juvenile 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN Autosomal recessive 203100 Albinism, oculocutaneous, type IA 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN 606952 Albinism, oculocutaneous, type IB 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN 601800 Melanoma, cutaneous malignant, susceptibility to, 8 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN 601800 Skin/hair/eye pigmentation 3, blue/green eyes 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN 601800 Skin/hair/eye pigmentation 3, light/dark/freckling skin 3 +606933 TYR Tyrosinase ENSG00000077498 TYR, SHEP3, CMM8, OCA1A, ATN Autosomal dominant 103470 Waardenburg syndrome/albinism, digenic 3 +600804 MTNR1B Melatonin receptor 1B ENSG00000134640 MTNR1B Autosomal dominant 125853 Diabetes mellitus, type 2, susceptibility to 3 +613233 Fasting plasma glucose level QTL 3 FGQTL3 associated with rs10830963 613233 Fasting plasma glucose level QTL 3 2 +603810 MED17 Mediator complex subunit 17 ENSG00000042429 MED17, CRSP6, CRSP77, TRAP80, DRIP80 Autosomal recessive 613668 Microcephaly, postnatal progressive, with seizures and brain atrophy 3 +600814 MRE11A Meiotic recombination 11, S. cerevisiae, homolog A of ENSG00000020922 MRE11A, MRE11, ATLD like gene on 7q11.2-q11.3 Autosomal recessive 604391 Ataxia-telangiectasia-like disorder 3 +607951 CEP57 Centrosomal protein 57kD ENSG00000166037 CEP57, PIG8, TSP57, KIAA0092, MVA2 Autosomal recessive 614114 Mosaic variegated aneuploidy syndrome 2 3 +603557 MTMR2 Myotubularin-related protein 2 ENSG00000087053 MTMR2, CMT4B1 Autosomal recessive 601382 Charcot-Marie-Tooth disease, type 4B1 3 +607537 MAML2 Mastermind-like 2 ENSG00000184384 MAML2, MAM3 t(11;19) Mucoepidermoid salivary gland carcinoma 3 +105580 Anal canal carcinoma ANC 3p22 also deleted Autosomal dominant 105580 ?Anal canal carcinoma 2 +607311 PGR Progesterone receptor ENSG00000082175 PGR 11q13 = earlier regionalization Autosomal recessive 264080 ?Progesterone resistance 2 +603652 TRPC6 Transient receptor potential channel-6 ENSG00000137672 TRPC6, TRP6, FSGS2 603965 Glomerulosclerosis, focal segmental, 2 3 +606608 YAP1 Yes-associated protein 1, 65kD ENSG00000137693 YAP1, COB1 Autosomal dominant 120433 Coloboma, ocular 3 +606608 YAP1 Yes-associated protein 1, 65kD ENSG00000137693 YAP1, COB1 Autosomal dominant 120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 3 +604629 MMP20 Matrix metalloproteinase-20 (enamelysin) ENSG00000137674 MMP20, AI2A2 Autosomal recessive 612529 Amelogenesis imperfecta, type IIA2 3 +120353 MMP1 Matrix metalloproteinase 1 (interstitial collagenase) ENSG00000196611 MMP1, CLG 606963 COPD, rate of decline of lung function in 3 +120353 MMP1 Matrix metalloproteinase 1 (interstitial collagenase) ENSG00000196611 MMP1, CLG Autosomal recessive 226600 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of 3 +185250 MMP3 Matrix metalloproteinase 3 (stromelysin 1, progelatinase) ENSG00000149968 MMP3, STMY1, CHDS6 614466 Coronary heart disease, susceptibility to, 6 3 +600108 MMP13 Matrix metalloproteinase 13 (collagenase 3) ENSG00000137745 MMP13, CLG3, MANDP1, MDST Autosomal dominant 602111 Metaphyseal anadysplasia 1 3 +600108 MMP13 Matrix metalloproteinase 13 (collagenase 3) ENSG00000137745 MMP13, CLG3, MANDP1, MDST Autosomal recessive 250400 Metaphyseal dysplasia, Spahr type 3 +600108 MMP13 Matrix metalloproteinase 13 (collagenase 3) ENSG00000137745 MMP13, CLG3, MANDP1, MDST Autosomal dominant 602111 Spondyloepimetaphyseal dysplasia, Missouri type 3 +603297 DYNC2H1 Dynein, cytoplasmic-2, heavy chain-1 ENSG00000187240 DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Autosomal recessive, Digenic recessive 613091 Short-rib thoracic dysplasia 3 with or without polydactyly 3 +608633 CASP12 Caspase 12, apoptosis-related cysteine protease ENSG00000204403 CASP12, CASP12P1 Sepsis, susceptibility to 3 +607809 ACAT1 Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A thiolase) ENSG00000075239 ACAT1 cluster: cen-STMY2-CLG-STMY1-ter Autosomal recessive 203750 Alpha-methylacetoacetic aciduria 3 +607585 ATM Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ENSG00000149311 ATM, ATA, AT1 Autosomal recessive 208900 Ataxia-telangiectasia 3 +607585 ATM Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ENSG00000149311 ATM, ATA, AT1 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +607585 ATM Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ENSG00000149311 ATM, ATA, AT1 Lymphoma, B-cell non-Hodgkin, somatic 3 +607585 ATM Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ENSG00000149311 ATM, ATA, AT1 Lymphoma, mantle cell, somatic 3 +607585 ATM Ataxia-telangiectasia mutated (includes complementation groups A, C, D, and E) ENSG00000149311 ATM, ATA, AT1 T-cell prolymphocytic leukemia, somatic 3 +612878 EXPH5 Exophilin 5 ENSG00000110723 EXPH5, SLAC2B, KIAA0624 Autosomal recessive 615028 Epidermolysis bullosa, nonspecific, autosomal recessive 3 +179410 RDX Radixin ENSG00000137710 RDX, DFNB24 Autosomal recessive 611022 Deafness, autosomal recessive 24 3 +612629 Adiponectin, serum level of, quantitative trait locus locus 4 ADIPQTL4 between D11S925 and D11S968 612629 Adiponectin, serum level of, QTL4 2 +609354 Bone mineral density QTL 5 BMND5 between D11S901 and D11S925 609354 Bone mineral density QTL 5 2 +600048 Breast cancer, 11;22 translocation associated BRCATA associated with t(11;22)(q23;q11) Breast cancer, 11:22 translocation associated 1 +612232 Colorectal cancer, susceptibility to, 7 CRCS7 associated with rs3802842 612232 Colorectal cancer, susceptibility to, 7 2 +137580 Gilles de la Tourette syndrome GTS several loci suspected (e.g., 17q25) Autosomal dominant 137580 Tourette syndrome 2 +147791 Jacobsen syndrome JBS contiguous gene deletion syndrome Isolated cases 147791 Jacobsen syndrome 4 +613387 Fatty liver disease, nonalcoholic, susceptibility to, 2 NAFLD2 associated with rs2854116, rs2854117 Multifactorial 613387 Fatty liver disease, nonalcoholic, susceptibility to, 2 2 +188025 Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome) TCPT contiguous gene deletion of 11q23 Isolated cases 188025 ?Thrombocytopenia, Paris-Trousseau type 4 +603040 Tumor suppressor gene on chromosome 11 TSG11 603040 Nonsmall cell lung cancer 2 +603113 PPP2R1B Protein phosphatase 2, structural/regulatory subunit A, beta ENSG00000137713 PPP2R1B Autosomal recessive 211980 Lung cancer 3 +606941 ALG9 Alg9, yeast, homolog of ENSG00000086848 ALG9, DIBD1, CDG1L, GIKANIS 608776 Congenital disorder of glycosylation, type Il 3 +606941 ALG9 Alg9, yeast, homolog of ENSG00000086848 ALG9, DIBD1, CDG1L, GIKANIS Autosomal recessive 263210 Gillessen-Kaesbach-Nishimura syndrome 3 +123590 CRYAB Crystallin, alpha B ENSG00000109846 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Autosomal dominant 615184 Cardiomyopathy, dilated, 1II 3 +123590 CRYAB Crystallin, alpha B ENSG00000109846 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Autosomal recessive, Autosomal dominant 613763 Cataract 16, multiple types 3 +123590 CRYAB Crystallin, alpha B ENSG00000109846 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Autosomal dominant 608810 Myopathy, myofibrillar, 2 3 +123590 CRYAB Crystallin, alpha B ENSG00000109846 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Autosomal recessive 613869 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 3 +608770 DLAT Dihydrolipoamide S-acetyltransferase ENSG00000150768 DLAT, PDCE2 Autosomal recessive 245348 Pyruvate dehydrogenase E2 deficiency 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 Autosomal dominant 114900 Carcinoid tumors, intestinal 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 615106 Cowden syndrome 3 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 Merkel cell carcinoma, somatic 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 Autosomal recessive 252011 Mitochondrial complex II deficiency 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 606864 Paraganglioma and gastric stromal sarcoma 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 Autosomal dominant 168000 Paragangliomas 1, with or without deafness 3 +602690 SDHD Succinate dehydrogenase complex, subunit D, integral membrane protein ENSG00000204370 SDHD, PGL1, CWS3 Autosomal dominant 171300 Pheochromocytoma 3 +612719 PTS 6-pyruvoyltetrahydropterin synthase ENSG00000150787 PTS Autosomal recessive 261640 Hyperphenylalaninemia, BH4-deficient, A 3 +608774 ANKK1 Ankyrin repeat and kinase domain containing 1 ENSG00000170209 ANKK1 Dopamine receptor D2, reduced brain density of 3 +176797 ZBTB16 Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger) ENSG00000109906 ZBTB16, ZNF145, PLZF fused with RARA in APL of t(11;17) type Leukemia, acute promyelocytic, PL2F/RARA type 3 +176797 ZBTB16 Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger) ENSG00000109906 ZBTB16, ZNF145, PLZF fused with RARA in APL of t(11;17) type Autosomal recessive 612447 Skeletal defects, genital hypoplasia, and mental retardation 3 +600008 NNMT Nicotinamide N-methyltransferase ENSG00000166741 NNMT 600008 Homocysteine plasma level 2 +607086 Aortic aneurysm, familial thoracic 1 AAT1, FAA1 607086 Aortic aneurysm, familial thoracic 1 2 +605201 High density lipoprotein cholesterol level quantitative trait locus 14 HDLCQ14, HYLAP 605201 High density lipoprotein cholesterol level QTL14 2 +606368 APOA5 Apolipoprotein A-V ENSG00000110243 APOA5 proximal to APOA1, APOC3, APOA4 Autosomal dominant 144650 Hyperchylomicronemia, late-onset 3 +606368 APOA5 Apolipoprotein A-V ENSG00000110243 APOA5 proximal to APOA1, APOC3, APOA4 Autosomal dominant 145750 Hypertriglyceridemia, susceptibility to 3 +107720 APOC3 Apolipoprotein C-III ENSG00000110245 APOC3, HALP2 2.6kb 3' to APOA1 614028 Apolipoprotein C-III deficiency 3 +107680 APOA1 Apolipoprotein A-I ENSG00000118137 APOA1 Autosomal dominant 105200 Amyloidosis, 3 or more types 3 +107680 APOA1 Apolipoprotein A-I ENSG00000118137 APOA1 ApoA-I and apoC-III deficiency, combined 3 +107680 APOA1 Apolipoprotein A-I ENSG00000118137 APOA1 Corneal clouding, autosomal recessive 3 +107680 APOA1 Apolipoprotein A-I ENSG00000118137 APOA1 604091 Hypoalphalipoproteinemia 3 +614848 CEP164 Centrosomal protein, 164kD ENSG00000110274 CEP164, KIAA1052 Autosomal recessive 614845 Nephronophthisis 15 3 +601814 FXYD2 FXYD domain-containing ion transport regulator 2 (sodium-potassium-ATPase, gamma polypeptide) ENSG00000137731 FXYD2, ATP1G1, HOMG2 Autosomal dominant 154020 Hypomagnesemia 2, renal 3 +146933 IL10RA Interleukin-10 receptor, alpha ENSG00000110324 IL10RA, IL10R, IBD28 Autosomal recessive 613148 Inflammatory bowel disease 28, early onset, autosomal recessive 3 +608256 SCN4B Sodium channel, voltage-gated, type IV, beta subunit ENSG00000177098 SCN4B, LQT10, ATFB17 Autosomal dominant 611819 Atrial fibrillation, familial, 17 3 +608256 SCN4B Sodium channel, voltage-gated, type IV, beta subunit ENSG00000177098 SCN4B, LQT10, ATFB17 Autosomal dominant 611819 Long QT syndrome-10 3 +601327 SCN2B Sodium channel, voltage-gated, type II, beta polypeptide ENSG00000149575 SCN2B, ATFB14 Autosomal dominant 615378 Atrial fibrillation, familial, 14 3 +186830 CD3E CD3E antigen, epsilon polypeptide (TiT3 complex) ENSG00000198851 CD3E, IMD18 Autosomal recessive 615615 Immunodeficiency 18 3 +186830 CD3E CD3E antigen, epsilon polypeptide (TiT3 complex) ENSG00000198851 CD3E, IMD18 Autosomal recessive 615615 Immunodeficiency 18, SCID variant 3 +186790 CD3D CD3D antigen, delta polypeptide (TiT3 complex) ENSG00000167286 CD3D, T3D, IMD19 3 CD3 genes in 50kb Autosomal recessive 615617 Immunodeficiency 19 3 +186740 CD3G CD3G antigen, gamma polypeptide (TiT3 complex) ENSG00000160654 CD3G, IMD17 Autosomal recessive 615607 Immunodeficiency 17, CD3 gamma deficient 3 +159555 KMT2A Lysine (K)-specific methyltransferase 2E ENSG00000118058 KMT2A, MLL, HRX, HTRX1, WDSTS fuses with ENL, AF4, AF9, GMPS Autosomal dominant 159555 Leukemia, myeloid/lymphoid or mixed-lineage 2 +159555 KMT2A Lysine (K)-specific methyltransferase 2E ENSG00000118058 KMT2A, MLL, HRX, HTRX1, WDSTS fuses with ENL, AF4, AF9, GMPS Autosomal dominant 605130 Wiedemann-Steiner syndrome 3 +275360 TREH Trehalase ENSG00000118094 TREH 612119 Trehalase deficiency 1 +602671 SLC37A4 Solute carrier family 37 (glucose-6-phosphate transporter), member 4 ENSG00000137700 SLC37A4, G6PT1 Autosomal recessive 232220 Glycogen storage disease Ib 3 +602671 SLC37A4 Solute carrier family 37 (glucose-6-phosphate transporter), member 4 ENSG00000137700 SLC37A4, G6PT1 Autosomal recessive 232240 Glycogen storage disease Ic 3 +608549 VPS11 Vacuolar protein sorting 11, yeast, homolog of ENSG00000280616 VPS11, HLD12 Autosomal recessive 616683 Leukodystrophy, hypomyelinating, 12 3 +609806 HMBS Hydroxymethylbilane synthase ENSG00000281702 HMBS, PBGD, UPS Autosomal dominant 176000 Porphyria, acute intermittent 3 +609806 HMBS Hydroxymethylbilane synthase ENSG00000281702 HMBS, PBGD, UPS Autosomal dominant 176000 Porphyria, acute intermittent, nonerythroid variant 3 +191350 DPAGT1 Dolichyl-phosphate N-acetylglucosamine phosphotransferase ENSG00000172269 DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13 Autosomal recessive 608093 Congenital disorder of glycosylation, type Ij 3 +191350 DPAGT1 Dolichyl-phosphate N-acetylglucosamine phosphotransferase ENSG00000172269 DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13 Autosomal recessive 614750 Myasthenic syndrome, congenital, 13, with tubular aggregates 3 +165360 CBL Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) ENSG00000110395 CBL, CBL2, NSLL mutation identified in 1 JMML family Autosomal dominant, Somatic mutation 607785 ?Juvenile myelomonocytic leukemia 3 +165360 CBL Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) ENSG00000110395 CBL, CBL2, NSLL mutation identified in 1 JMML family Autosomal dominant 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 3 +608752 C1QTNF5 C1q- and tumor necrosis factor-related protein 5 ENSG00000223953 C1QTNF5, CTRP5, LORD Autosomal dominant 605670 Retinal degeneration, late-onset, autosomal dominant 3 +606227 MFRP Membrane-type frizzled-related protein ENSG00000235718 MFRP, MCOP5, NNO2 Autosomal recessive 611040 Microphthalmia, isolated 5 3 +606227 MFRP Membrane-type frizzled-related protein ENSG00000235718 MFRP, MCOP5, NNO2 609549 Nanophthalmos 2 3 +600644 NECTIN1 Nectin 1 ENSG00000110400 NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1 Autosomal recessive 225060 Cleft lip/palate-ectodermal dysplasia syndrome 3 +600644 NECTIN1 Nectin 1 ENSG00000110400 NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1 Autosomal recessive 225060 Orofacial cleft 7 3 +602574 TECTA Tectorin, alpha ENSG00000109927 TECTA, DFNA8, DFNA12, DFNB21 Autosomal dominant 601543 Deafness, autosomal dominant 8/12 3 +602574 TECTA Tectorin, alpha ENSG00000109927 TECTA, DFNA8, DFNA12, DFNB21 Autosomal recessive 603629 Deafness, autosomal recessive 21 3 +602286 SC5D Sterol C5-desaturase-like ENSG00000109929 SC5DL, ERG3 Autosomal recessive 607330 Lathosterolosis 3 +612161 Aneurysm, intracranial berry, 7 ANIB7 between rs618176 and rs1940033 612161 Aneurysm, intracranial berry, 7 2 +612559 Leukemia, chronic lymphocytic susceptibility to, 5 CLLS5 associated with rs735665 612559 Leukemia, chronic lymphocytic susceptibility to, 5 2 +609670 Migraine with aura, susceptibility to, 9 MGR9 max lod at GATA64D03 609670 Migraine with aura, susceptibility to, 9 2 +609469 Nephropathy, progressive, with deafness NEDE max lod at D11S4464 609469 Nephropathy, progressive, with deafness 2 +611693 CLMP Coxsackievirus- and adenovirus receptor-like membrane protein ENSG00000166250 CLMP, ASAM, ACAM, CSBS Autosomal recessive 615237 Congenital short bowel syndrome 3 +608214 SCN3B Sodium channel, voltage-gated, type III, beta subunit ENSG00000166257 SCN3B, SCNB3, BRGDA7, ATFB16 Autosomal dominant 613120 Atrial fibrillation, familial, 16 3 +608214 SCN3B Sodium channel, voltage-gated, type III, beta subunit ENSG00000166257 SCN3B, SCNB3, BRGDA7, ATFB16 Autosomal dominant 613120 Brugada syndrome 7 3 +610079 SIAE Sialic acid acetylesterase ENSG00000110013 SIAE, AIS6 613551 Autoimmune disease, susceptibility to, 6 3 +608630 ROBO3 Roundabout, Drosophila, homolog of, 3 ENSG00000154134 ROBO3, RBIG1, RIG1, HGPPS Autosomal recessive 607313 Gaze palsy, horizontal, with progressive scoliosis 3 +611642 HEPACAM Hepatocyte cell adhesion molecule ENSG00000165478 HEPACAM, MLC2A, MLC2B Autosomal recessive 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 3 +611642 HEPACAM Hepatocyte cell adhesion molecule ENSG00000165478 HEPACAM, MLC2A, MLC2B Autosomal dominant 613926 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 3 +601134 STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) ENSG00000134910 STT3A, ITM1, TMC mutation identified in 1 family Autosomal recessive 615596 ?Congenital disorder of glycosylation, type Iw 3 +610693 HYLS1 HYLS1 gene ENSG00000198331 HYLS1, FLJ32915 Autosomal recessive 236680 Hydrolethalus syndrome 3 +616283 PUS3 Pseudouridylate synthase 3 ENSG00000110060 PUS3, MRT55 mutation identified in 1 MRT55 family Autosomal recessive 617051 ?Mental retardation, autosomal recessive 55 3 +608707 CDON Cell adhesion molecule-related/downregulated by oncogenes ENSG00000064309 CDON, CDO, HPE11 Autosomal dominant, Isolated cases 614226 Holoprosencephaly 11 3 +613622 FOXRED1 FAD-dependent oxidoreductase domain-containing protein 1 ENSG00000110074 FOXRED1 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +613622 FOXRED1 FAD-dependent oxidoreductase domain-containing protein 1 ENSG00000110074 FOXRED1 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +606252 TIRAP TIR domain-containing adaptor protein ENSG00000150455 TIRAP, BACTS1 614382 Bacteremia, protection against 3 +606252 TIRAP TIR domain-containing adaptor protein ENSG00000150455 TIRAP, BACTS1 611162 Malaria, protection against 3 +606252 TIRAP TIR domain-containing adaptor protein ENSG00000150455 TIRAP, BACTS1 610799 Pneumococcal disease, invasive, protection against 3 +606252 TIRAP TIR domain-containing adaptor protein ENSG00000150455 TIRAP, BACTS1 607948 Tuberculosis, protection against 3 +610534 DCPS Decapping enzyme, scavenger ENSG00000110063 DCPS, HINT5, DCS1, ARS Autosomal recessive 616459 Al-Raqad syndrome 3 +607761 KIRREL3 Kin of IRRE-like 3 ENSG00000149571 KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4 612581 Mental retardation, autosomal dominant 4 3 +600359 KCNJ1 Potassium inwardly-rectifying channel, subfamily J, member 1 ENSG00000151704 KCNJ1, ROMK1 Autosomal recessive 241200 Bartter syndrome, type 2 3 +600734 KCNJ5 Potassium inwardly-rectifying channel, subfamily J, member 5 ENSG00000120457 KCNJ5, GIRK4, KATP1, LQT13 Autosomal dominant 613677 Hyperaldosteronism, familial, type III 3 +600734 KCNJ5 Potassium inwardly-rectifying channel, subfamily J, member 5 ENSG00000120457 KCNJ5, GIRK4, KATP1, LQT13 Autosomal dominant 613485 Long QT syndrome 13 3 +606797 ST14 Suppression of tumorigenicity 14 ENSG00000149418 ST14, MTSP1, ARCI11 Autosomal recessive 602400 Ichthyosis, congenital, autosomal recessive 11 3 +604060 DFNB20 Deafness, autosomal recessive 20 DFNB20 Autosomal recessive 604060 Deafness, autosomal recessive 20 2 +602782 Histiocytosis with joint contractures and sensorineural deafness HJCD, HCLAP Autosomal recessive 602782 Histiocytosis-lymphadenopathy plus syndrome 3 +600632 OPCML Opioid-binding protein/cell adhesion molecule-like ENSG00000183715 OPCML 167000 Ovarian cancer, somatic 3 +606871 JAM3 Junctional adhesion molecule 3 ENSG00000166086 JAM3 Autosomal recessive 613730 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 3 +604773 ACAD8 Acyl-CoA dehydrogenase family, member 8 ENSG00000151498 ACAD8 611283 Isobutyryl-CoA dehydrogenase deficiency 3 +606049 Acromegaloid features, overgrowth, cleft palate, and hernia AOCH pericentric inversion (46,XY,inv(11)(p15.3;q23.3)) 606049 Acromegaloid features, overgrowth, cleft palate, and hernia 2 +130080 Ehlers-Danlos syndrome, type VIII EDS8 prob. genetic heterogeneity Autosomal dominant 130080 Ehlers-Danlos syndrome, type VIII 2 +612372 Major affective disorder 9 MAFD9 associated with rs1006737 612372 Major affective disorder-9, susceptibility to 2 +601803 Pallister-Killian syndrome PKS Somatic mosaicism 601803 Pallister-Killian syndrome 4 +605232 WNK1 WNK lysine deficient protein kinase 1 ENSG00000060237 WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 Autosomal recessive 201300 Neuropathy, hereditary sensory and autonomic, type II 3 +605232 WNK1 WNK lysine deficient protein kinase 1 ENSG00000060237 WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 Autosomal dominant 614492 Pseudohypoaldosteronism, type IIC 3 +608171 CACNA2D4 Calcium channel, voltage-dependent, alpha-2/delta subunit 4 ENSG00000151062 CACNA2D4, RCD4 610478 Retinal cone dystrophy 4 3 +114205 CACNA1C Calcium channel, voltage-dependent, L type, alpha 1C subunit ENSG00000151067 CACNA1C, CACNL1A1, CCHL1A1, TS 611875 Brugada syndrome 3 3 +114205 CACNA1C Calcium channel, voltage-dependent, L type, alpha 1C subunit ENSG00000151067 CACNA1C, CACNL1A1, CCHL1A1, TS Autosomal dominant 601005 Timothy syndrome 3 +123833 CCND2 Cyclin D2 ENSG00000118971 CCND2, MPPH3 Autosomal dominant 615938 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 3 +605380 FGF23 Fibroblast growth factor 23 ENSG00000118972 FGF23, ADHR, HPDR2, PHPTC Autosomal dominant 193100 Hypophosphatemic rickets, autosomal dominant 3 +605380 FGF23 Fibroblast growth factor 23 ENSG00000118972 FGF23, ADHR, HPDR2, PHPTC Osteomalacia, tumor-induced 1 +605380 FGF23 Fibroblast growth factor 23 ENSG00000118972 FGF23, ADHR, HPDR2, PHPTC Autosomal recessive 211900 Tumoral calcinosis, hyperphosphatemic, familial 3 +603834 NDUFA9 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 9 ENSG00000139180 NDUFA9 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex I deficiency 3 +176260 KCNA1 Potassium voltage-gated channel, shaker-related subfamily, member 1 ENSG00000111262 KCNA1, AEMK, EA1 close to VWF Autosomal dominant 160120 Episodic ataxia/myokymia syndrome 3 +176267 KCNA5 Potassium voltage-gated channel, shaker-related subfamily, member 5 ENSG00000130037 KCNA5, ATFB7 Autosomal dominant 612240 Atrial fibrillation, familial, 7 3 +613160 VWF Coagulation factor VIII VWF (von Willebrand factor) ENSG00000110799 VWF, F8VWF pseudogene on chr. 22 Autosomal dominant 193400 von Willebrand disease, type 1 3 +613160 VWF Coagulation factor VIII VWF (von Willebrand factor) ENSG00000110799 VWF, F8VWF pseudogene on chr. 22 Autosomal recessive, Autosomal dominant 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N 3 +613160 VWF Coagulation factor VIII VWF (von Willebrand factor) ENSG00000110799 VWF, F8VWF pseudogene on chr. 22 Autosomal recessive 277480 von Willibrand disease, type 3 3 +191190 TNFRSF1A Tumor necrosis factor receptor superfamily, member 1A ENSG00000067182 TNFRSF1A, TNFR1, TNFAR, FPF, MS5 614810 Multiple sclerosis, susceptibility to, 5 3 +191190 TNFRSF1A Tumor necrosis factor receptor superfamily, member 1A ENSG00000067182 TNFRSF1A, TNFR1, TNFAR, FPF, MS5 Autosomal dominant 142680 Periodic fever, familial 3 +600228 SCNN1A Sodium channel, nonvoltage-gated 1, alpha ENSG00000111319 SCNN1A, BESC2 Autosomal dominant 613021 Bronchiectasis with or without elevated sweat chloride 2 3 +600228 SCNN1A Sodium channel, nonvoltage-gated 1, alpha ENSG00000111319 SCNN1A, BESC2 Autosomal recessive 264350 Pseudohypoaldosteronism, type I 3 +186711 CD27 Tumor necrosis factor receptor superfamily, member 7 (CD27 antigen) ENSG00000139193 TNFRSF7, CD27, S152. LPFS2 Autosomal recessive 615122 Lymphoproliferative syndrome 2 3 +185880 VAMP1 Vesicle-associated membrane protein-1 (synaptobrevin-1) ENSG00000139190 VAMP1, SYB1, SPAX1 Autosomal dominant 108600 Spastic ataxia 1, autosomal dominant 3 +186940 CD4 CD4 antigen (p55) ENSG00000010610 CD4 CD = \\'cluster of differentiation\\' = nomenclature of leukocyte differentiation antigens 613949 OKT4 epitope deficiency 3 +139130 GNB3 Guanine nucleotide-binding protein, beta polypeptide-3 ENSG00000111664 GNB3, CSNB1H Multifactorial 145500 Hypertension, essential, susceptibility to 3 +139130 GNB3 Guanine nucleotide-binding protein, beta polypeptide-3 ENSG00000111664 GNB3, CSNB1H Autosomal recessive 617024 Night blindness, congenital stationary, type 1H 3 +190450 TPI1 Triosephosphate isomerase-1 ENSG00000111669 TPI1, TPID Autosomal recessive 615512 Hemolytic anemia due to triosephosphate isomerase deficiency 3 +607462 ATN1 Atrophin 1 ENSG00000111676 ATN1, DRPLA, HRS, NOD Autosomal dominant 125370 Dentatorubro-pallidoluysian atrophy 3 +615140 C12orf57 Chromosome 12 open reading frame 57 ENSG00000111678 C12orf57, C10, TEMTYS Autosomal recessive 218340 Temtamy syndrome 3 +611531 EMG1 Essential for mitotic growth 1, S. cerevisiae, homolog of ENSG00000126749 EMG1, NEP1, C2F, BWCNS Autosomal recessive 211180 Bowen-Conradi syndrome 3 +120580 C1S Complement component-1, s subcomponent ENSG00000182326 C1S 613783 C1s deficiency 3 +613785 C1R Complement component-1, r subcomponent ENSG00000159403 C1R Autosomal recessive 216950 C1r/C1s deficiency, combined 1 +600414 PEX5 Peroxisome biogenesis factor 5 ENSG00000139197 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 Autosomal recessive 214110 Peroxisome biogenesis disorder 2A (Zellweger) 3 +600414 PEX5 Peroxisome biogenesis factor 5 ENSG00000139197 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 Autosomal recessive 202370 Peroxisome biogenesis disorder 2B 3 +600414 PEX5 Peroxisome biogenesis factor 5 ENSG00000139197 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 Autosomal recessive 616716 Rhizomelic chondrodysplasia punctata, type 5 3 +606522 GDF3 Growth differentiation factor 3 ENSG00000184344 GDF3, KFS3, MCOPCB6, MCOP7 613702 Klippel-Feil syndrome 3, autosomal dominant 3 +606522 GDF3 Growth differentiation factor 3 ENSG00000184344 GDF3, KFS3, MCOPCB6, MCOP7 613703 Microphthalmia with coloboma 6 3 +606522 GDF3 Growth differentiation factor 3 ENSG00000184344 GDF3, KFS3, MCOPCB6, MCOP7 613704 Microphthalmia, isolated 7 3 +611623 NECAP1 NECAP endocytosis-associated protein 1 ENSG00000089818 NECAP1, EIEE21 mutation identified in 1 EIEE21 family Autosomal recessive 615833 ?Epileptic encephalopathy, early infantile, 21 3 +605257 AICDA Activation-induced cytidine deaminase ENSG00000111732 AICDA, AID, HIGM2 Autosomal recessive 605258 Immunodeficiency with hyper-IgM, type 2 3 +601103 MFAP5 Microfibril-associated protein 5 ENSG00000197614 MFAP5, MAGP2, AAT9 Autosomal dominant 616166 Aortic aneurysm, familial thoracic 9 3 +602978 PHC1 Polyhomeotic-like 1 ENSG00000111752 PHC1, EDR1, HPH1, RAE28, MCPH11 mutations identified in 1 family Autosomal recessive 615414 ?Microcephaly 11, primary, autosomal recessive 3 +103950 A2M Alpha-2-macroglobulin ENSG00000175899 A2M , A2MD cluster of genes Autosomal dominant 614036 Alpha-2-macroglobulin deficiency 1 +103950 A2M Alpha-2-macroglobulin ENSG00000175899 A2M , A2MD cluster of genes Autosomal dominant 104300 Alzheimer disease, susceptibility to 3 +610143 DFNB62 Deafness, autosomal recessive 62 DFNB62 between D12S358 and D12S1042 Autosomal recessive 610143 Deafness, autosomal recessive 62 2 +601458 IBD2 Inflammatory bowel disease 2 IBD2 mainly ulcerative colitis 601458 Inflammatory bowel disease 2 2 +606264 CLEC7A C-type lectin domain family 7, member A ENSG00000172243 CLEC7A, CLECSF12, DECTIN1, CANDF4 in natural killer gene complex 614079 Aspergillosis, susceptibility to 3 +606264 CLEC7A C-type lectin domain family 7, member A ENSG00000172243 CLEC7A, CLECSF12, DECTIN1, CANDF4 in natural killer gene complex Autosomal recessive 613108 Candidiasis, familial, 4, autosomal recessive 3 +602601 OLR1 Low density lipoprotein, oxidized, receptor 1 ENSG00000173391 OLR1, LOX1 608446 Myocardial infarction, susceptibility to 3 +600618 ETV6 ETS variant gene-6 (TEL oncogene) ENSG00000139083 ETV6, TEL, THC5 fused to PDGFRB or AML1 in leukemia 601626 Leukemia, acute myeloid, somatic 3 +600618 ETV6 ETS variant gene-6 (TEL oncogene) ENSG00000139083 ETV6, TEL, THC5 fused to PDGFRB or AML1 in leukemia Autosomal dominant 616216 Thrombocytopenia 5 3 +603507 LRP6 Low density lipoprotein receptor-related protein 6 ENSG00000281324 LRP6, ADCAD2, STHAG7 Autosomal dominant 610947 Coronary artery disease, autosomal dominant, 2 3 +603507 LRP6 Low density lipoprotein receptor-related protein 6 ENSG00000281324 LRP6, ADCAD2, STHAG7 Autosomal dominant 616724 Tooth agenesis, selective, 7 3 +600778 CDKN1B Cyclin-dependent kinase inhibitor 1B (p27, Kip1) ENSG00000111276 CDKN1B, KIP1, CDKN4, MEN4 Autosomal dominant 610755 Multiple endocrine neoplasia, type IV 3 +138252 GRIN2B Glutamate receptor, ionotropic, N-methyl D-aspartate 2B ENSG00000273079 GRIN2B, NMDAR2B, MRD6, EIEE27 Autosomal dominant 616139 Epileptic encephalopathy, early infantile, 27 3 +138252 GRIN2B Glutamate receptor, ionotropic, N-methyl D-aspartate 2B ENSG00000273079 GRIN2B, NMDAR2B, MRD6, EIEE27 613970 Mental retardation, autosomal dominant 6 3 +601330 GUCY2C Guanylate cyclase 2C (heat stable enterotoxin receptor) ENSG00000070019 GUCY2C, GUC2C, DIAR6, MECIL Autosomal dominant 614616 Diarrhea 6 3 +601330 GUCY2C Guanylate cyclase 2C (heat stable enterotoxin receptor) ENSG00000070019 GUCY2C, GUC2C, DIAR6, MECIL Autosomal recessive 614665 Meconium ileus 3 +110600 ART4 ADP-ribosyltransferase-4 (Dombrock blood group) ENSG00000111339 ART4, DO, DOK1 616060 Blood group, Dombrock 3 +154870 MGP Matrix Gla protein ENSG00000111341 MGP Autosomal recessive 245150 Keutel syndrome 3 +601190 PDE6H Phosphodiesterase 6H, cGMP-specific, cone, gamma ENSG00000139053 PDE6H, RCD3, ACHM6 Autosomal recessive, Autosomal dominant 610024 Achromatopsia 6 3 +601190 PDE6H Phosphodiesterase 6H, cGMP-specific, cone, gamma ENSG00000139053 PDE6H, RCD3, ACHM6 Autosomal recessive, Autosomal dominant 610024 Retinal cone dystrophy 3 3 +600579 PTPRO Protein tyrosine phosphatase, receptor type, O ENSG00000151490 PTPRO, GLEPP1, NPHS6 Autosomal recessive 614196 Nephrotic syndrome, type 6 3 +600206 EPS8 Epidermal growth factor receptor pathway substrate-8 ENSG00000151491 EPS8, DFNB102 mutation identified in 1 DFNB102 family Autosomal recessive 615974 ?Deafness, autosomal recessive 102 3 +608742 Hypertension, essential, susceptibility to, 4 HYT4 Multifactorial 145500 Hypertension, essential, susceptibility to, 4 2 +123805 PDE3A Phosphodiesterase 3A, cGMP-inhibited ENSG00000172572 PDE3A, HTNB Autosomal dominant 112410 Hypertension and brachydactyly syndrome 3 +605495 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 ENSG00000111700 SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR HBLRR digenic with SLCO1B1 Digenic recessive 237450 Hyperbilirubinemia, Rotor type, digenic 3 +604843 SLCO1B1 Solute carrier organic anion transporter family, member 1B1 ENSG00000134538 SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR HBLRR digenic with SLCO1B3 Digenic recessive 237450 Hyperbilirubinemia, Rotor type, digenic 3 +138571 GYS2 Glycogen synthase-2, liver ENSG00000111713 GYS2 Autosomal recessive 240600 Glycogen storage disease 0, liver 3 +150100 LDHB Lactate dehydrogenase B ENSG00000111716 LDHB, LDHBD 614128 Lactate dehydrogenase-B deficiency 3 +601439 ABCC9 ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) ENSG00000069431 ABCC9, SUR2, CMD1O, ATFB12, CANTU Autosomal dominant 614050 Atrial fibrillation, familial, 12 3 +601439 ABCC9 ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) ENSG00000069431 ABCC9, SUR2, CMD1O, ATFB12, CANTU 608569 Cardiomyopathy, dilated, 1O 3 +601439 ABCC9 ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) ENSG00000069431 ABCC9, SUR2, CMD1O, ATFB12, CANTU Autosomal dominant 239850 Hypertrichotic osteochondrodysplasia 3 +604975 SOX5 SRY-box 5 ENSG00000134532 SOX5, LAMSHF some LAMSHF patients have 12p12 deletions Autosomal dominant 616803 Lamb-Shaffer syndrome 3 +113520 BCAT1 Branched chain aminotransferase-1, cytosolic ENSG00000060982 BCAT1, BCT1 ?Hyperleucinemia-isoleucinemia or hypervalinemia 1 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 109800 Bladder cancer, somatic 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 114480 Breast cancer, somatic 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 615278 Cardiofaciocutaneous syndrome 2 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 137215 Gastric cancer, somatic 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 Autosomal dominant 601626 Leukemia, acute myeloid 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 211980 Lung cancer, somatic 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 609942 Noonan syndrome 3 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 260350 Pancreatic carcinoma, somatic 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 Autosomal dominant 614470 RAS-associated autoimmune leukoproliferative disorder 3 +190070 KRAS Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog ENSG00000133703 KRAS, KRAS2, RASK2, NS, CFC2, RALD pseudogene KRAS1P on 6p12-p11 163200 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 3 +606200 BHLHE41 Basic helix-loop-helix domain-containing protein, member E41 ENSG00000123095 BHLHE41, BHLHB3, DEC2, SHARP1 Autosomal dominant 612975 Short sleeper 3 +602096 AD5 Alzheimer disease, familial, type 5 AD5 Autosomal dominant 602096 Alzheimer disease-5 2 +615022 Ichthyosis, congenital, autosomal recessive 7 ARCI7 between D12S345 and D12S390 Autosomal recessive 615022 Ichthyosis, congenital, autosomal recessive 7 2 +606257 Stature quantitative trait locus 3 STQTL3 max lod at D12S398 and D12S10990 606257 Stature QTL 3 2 +615390 Vesicoureteral reflux 7 VUR7 max lod at D12S1048 615390 Vesicoureteral reflux 7 2 +600144 ITPR2 Inositol 1,4,5-triphosphate receptor, type 2 ENSG00000123104 ITPR2, ANHD mutation has been identified in 1 ANHD family Autosomal recessive 106190 ?Anhidrosis, isolated, with normal sweat glands 3 +168470 PTHLH Parathyroid hormone-like hormone ENSG00000087494 PTHLH, BDE2 Autosomal dominant 613382 Brachydactyly, type E2 3 +168470 PTHLH Parathyroid hormone-like hormone ENSG00000087494 PTHLH, BDE2 Humoral hypercalcemia of malignancy 1 +601150 DDX11 DEAD/H box-11 (CHL1-related helicase gene-1) ENSG00000013573 DDX11, CHLR1, KRG2 Autosomal recessive 613398 Warsaw breakage syndrome 3 +611104 FGD4 FYVE, RhoGEF, and PH domain-containing protein 4 ENSG00000139132 FGD4, FRABIN, CMT4H Autosomal recessive 609311 Charcot-Marie-Tooth disease, type 4H 3 +603850 DNM1L Dynamin 1-like ENSG00000087470 DNM1L, DRP1, DVLP, DYMPLE, EMPF1 Autosomal dominant 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1 3 +610957 YARS2 Tyrosyl-tRNA synthetase 2 ENSG00000139131 YARS2, TYRRS, MLASA2 Autosomal recessive 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 3 +602861 PKP2 Plakophilin-2 ENSG00000057294 PKP2, ARVD9 pseudogene on 12p13 Autosomal dominant 609040 Arrhythmogenic right ventricular dysplasia 9 3 +603313 ALG10 Alg10, S. cerevisiae, homolog of ENSG00000139133 ALG10, KCR1 Autosomal dominant 613688 Long QT syndrome, acquired, reduced susceptibility to 3 +179010 Pyloric stenosis, infantile hypertrophic 1 IHPS1, IHPS Autosomal dominant, Multifactorial 179010 Pyloric stenosis, infantile hypertrophic 1 2 +608591 Charcot-Marie-Tooth disease, axonal, type 2G CMT2G between D12S1663 and D12S1644 Autosomal dominant 608591 Charcot-Marie-Tooth disease, axonal, type 2G 2 +102300 Restless legs syndrome, susceptibility to, 1 RLS1 between D12S1044 and D12S78 Autosomal dominant 102300 Restless legs syndrome 1 2 +608283 KIF21A Kinesin family member 21A ENSG00000139116 KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B Autosomal dominant 135700 Fibrosis of extraocular muscles, congenital, 1 3 +608283 KIF21A Kinesin family member 21A ENSG00000139116 KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B Autosomal dominant 135700 Fibrosis of extraocular muscles, congenital, 3B 3 +609007 LRRK2 Leucine-rich repeat kinase 2 (dardarin) ENSG00000188906 LRRK2, PARK8 Autosomal dominant 607060 Parkinson disease 8 3 +600016 CNTN1 Contactin 1 ENSG00000018236 CNTN1, MYPCN mutation identified in 1 MYPCN family Autosomal recessive 612540 ?Myopathy, congenital, Compton-North 3 +608500 PRICKLE1 Prickle-like 1 ENSG00000139174 PRICKLE1, RILP, EPM1B Autosomal recessive 612437 Epilepsy, progressive myoclonic 1B 3 +606883 IRAK4 Interleukin 1 receptor-associated kinase 4 ENSG00000198001 IRAK4, REN64, IPD1 607676 IRAK4 deficiency 3 +606883 IRAK4 Interleukin 1 receptor-associated kinase 4 ENSG00000198001 IRAK4, REN64, IPD1 610799 Invasive pneumococcal disease, recurrent isolated, 1 3 +608663 ANO6 Anoctamin 6 ENSG00000177119 ANO6, TMEM16F, SCTS, BDPLT7 Autosomal recessive 262890 Scott syndrome 3 +613061 Basal cell carcinoma, susceptibility to, 4 BCC4 associated with rs11170164 613061 Basal cell carcinoma, susceptibility to, 4 2 +616182 Chronic mountain sickness, susceptibility to CMTS 616182 Chronic mountain sickness, susceptibility to 2 +607841 Deafness, autosomal dominant 48 DFNA48 Autosomal dominant 607841 Deafness, autosomal dominant 48 2 +600808 ENUR2 Enuresis, nocturnal, 2 ENUR2 Autosomal dominant 600808 Enuresis, nocturnal, 2 2 +614346 MRT25 Mental retardation, autosomal recessive 25 MRT25 between rs4760658 and rs1882033 Autosomal recessive 614346 Mental retardation, autosomal recessive 25 2 +184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant SPDT Autosomal dominant 184100 Spondyloepiphyseal dysplasia tarda, autosomal dominant 2 +601769 VDR Vitamin D (1,25-dihydroxyvitamin D3) receptor ENSG00000111424 VDR Autosomal dominant 166710 ?Osteoporosis, involutional 1 +601769 VDR Vitamin D (1,25-dihydroxyvitamin D3) receptor ENSG00000111424 VDR Autosomal recessive 277440 Rickets, vitamin D-resistant, type IIA 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 200610 Achondrogenesis, type II or hypochondrogenesis 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 608805 Avascular necrosis of the femoral head 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 609162 Czech dysplasia 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 132450 Epiphyseal dysplasia, multiple, with myopia and deafness 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 156550 Kniest dysplasia 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 150600 Legg-Calve-Perthes disease 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 604864 Osteoarthritis with mild chondrodysplasia 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal recessive 215150 Otospondylomegaepiphyseal dysplasia 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 151210 Platyspondylic skeletal dysplasia, Torrance type 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 183900 SED congenita 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 184250 SMED Strudwick type 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 616583 Spondyloepiphyseal dysplasia, Stanescu type 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 271700 Spondyloperipheral dysplasia 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 609508 Stickler sydrome, type I, nonsyndromic ocular 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Autosomal dominant 108300 Stickler syndrome, type I 3 +120140 COL2A1 Collagen II, alpha-1 polypeptide ENSG00000139219 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia 3 +610681 PFKM Phosphofructokinase, muscle type ENSG00000152556 PFKM, GSD7 incorrectly assigned to chr.1 Autosomal recessive 232800 Glycogen storage disease VII 3 +615487 SNORA2C Small nucleolar RNA, H/ACA box, 34 ENSG00000221491 SNORA2C, SNORA34, ACA34, MIR1291 MIR1291 in intron of SNORA34 615487 Small nucleolar RNA, H/ACA box, 2C 3 +600294 ADCY6 Adenylate cyclase-6 ENSG00000174233 ADCY6, LCCS8 mutation identified in 1 LCCS8 family Autosomal recessive 616287 ?Lethal congenital contracture syndrome 8 3 +611088 CCDC65 Coiled-coil domain-containing protein 65 ENSG00000139537 CCDC65, CILD27 Autosomal recessive 615504 Ciliary dyskinesia, primary, 27 3 +601906 WNT10B Wingless-type MMTV integration site family, member 10B ENSG00000169884 WNT10B, SHFM6, STHAG8 Autosomal recessive 225300 Split-hand/foot malformation 6 3 +601906 WNT10B Wingless-type MMTV integration site family, member 10B ENSG00000169884 WNT10B, SHFM6, STHAG8 Autosomal dominant 617073 Tooth agenesis, selective, 8 3 +164820 WNT1 Wingless-type MMTV integration site family, member 1 (oncogene INT1) ENSG00000125084 WNT1, INT1, OI15, BMND16 Autosomal recessive 615220 Osteogenesis imperfecta, type XV 3 +164820 WNT1 Wingless-type MMTV integration site family, member 1 (oncogene INT1) ENSG00000125084 WNT1, INT1, OI15, BMND16 615221 Osteoporosis, early-onset, susceptibility to, autosomal dominant 3 +602113 KMT2D Lysine (K)-specific methyltransferase 2D ENSG00000167548 KMT2D, MLL2, ALR, KABUK1 Autosomal dominant 147920 Kabuki syndrome 1 3 +605423 DHH Desert hedgehog ENSG00000139549 DHH, SRXY7, GDXYM 607080 46XY partial gonadal dysgenesis, with minifascicular neuropathy 3 +605423 DHH Desert hedgehog ENSG00000139549 DHH, SRXY7, GDXYM Autosomal recessive 233420 46XY sex reversal 7 3 +602529 TUBA1A Tubulin, alpha-1A ENSG00000167552 TUBA1A, TUBA3, LIS3 Autosomal dominant 611603 Lissencephaly 3 3 +170710 PRPH Peripherin ENSG00000135406 PRPH Autosomal recessive, Autosomal dominant 105400 Amyotrophic lateral sclerosis, susceptibility to 3 +107777 AQP2 Aquaporin-2 (collecting duct) ENSG00000167580 AQP2 Autosomal recessive, Autosomal dominant 125800 Diabetes insipidus, nephrogenic 3 +600442 AQP5 Aquaporin-5 ENSG00000161798 AQP5, PPKB Autosomal dominant 600231 Palmoplantar keratoderma, Bothnian type 3 +138420 GPD1 Glycerol-3-phosphate dehydrogenase, soluble ENSG00000167588 GPD1, HTGTI Autosomal recessive 614480 Hypertriglyceridemia, transient infantile 3 +614478 COX14 Cytochrome c oxidase assembly protein COX14 ENSG00000178449 COX14, C12orf62 mutation identified in 1 Cox4 deficient family Autosomal recessive, Mitochondrial 220110 ?Mitochondrial complex IV deficiency 3 +611379 DIP2B Disco-interacting protein 2, Drosophila, homolog of, B ENSG00000066084 DIP2B, KIAA1463 Autosomal dominant 136630 Mental retardation, FRA12A type 3 +600523 SLC11A2 Solute carrier family 11 (proton-coupled divalent metal ion transporter) member 2 ENSG00000110911 SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1 Autosomal recessive 206100 Anemia, hypochromic microcytic, with iron overload 1 3 +600702 SCN8A Sodium channel, voltage gated, type VIII, alpha polypeptide ENSG00000196876 SCN8A, CIAT, EIEE13, BFIS5 mutation identified in 1 CIAT family Autosomal dominant 614306 ?Cognitive impairment with or without cerebellar ataxia 3 +600702 SCN8A Sodium channel, voltage gated, type VIII, alpha polypeptide ENSG00000196876 SCN8A, CIAT, EIEE13, BFIS5 mutation identified in 1 CIAT family Autosomal dominant 614558 Epileptic encephalopathy, early infantile, 13 3 +600702 SCN8A Sodium channel, voltage gated, type VIII, alpha polypeptide ENSG00000196876 SCN8A, CIAT, EIEE13, BFIS5 mutation identified in 1 CIAT family Autosomal dominant 617080 Seizures, benign familial infantile, 5 3 +601284 ACVRL1 Activin A receptor, type II-like kinase 1 ENSG00000139567 ACVRL1, ACVRLK1, ALK1, HHT2 Autosomal dominant 600376 Telangiectasia, hereditary hemorrhagic, type 2 3 +601300 ACVR1B Activin A receptor, type IB ENSG00000135503 ACVR1B, ACVRLK4, ALK4 Pancreatic cancer, somatic 3 +601928 KRT86 Keratin 86 ENSG00000170442 KRT86, KRTHB6, HB6 Autosomal dominant 158000 Monilethrix 3 +602153 KRT81 Keratin 81 ENSG00000205426 KRT81, KRTHB1, HB1 Autosomal dominant 158000 Monilethrix 3 +602765 KRT83 Keratin 83 ENSG00000170523 KRT83, KRTHB3, HB3 mutation identified in 1 MNLTX patient Autosomal dominant 158000 ?Monilethrix 3 +602767 KRT85 Keratin 85 ENSG00000135443 KRT85, KRTHB5, HB5, ECTD4 Autosomal recessive 602032 Ectodermal dysplasia 4, hair/nail type 3 +609025 KRT75 Keratin 75 ENSG00000170454 KRT75, K6HF, PFB 612318 Pseudofolliculitis barbae, susceptibility to 3 +148042 KRT6B Keratin 6B ENSG00000185479 KRT6B, PC4 615728 Pachyonychia congenita 4 3 +612315 KRT6C Keratin 6C ENSG00000170465 KRT6C, PPKNEFD Autosomal dominant 615735 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 3 +148041 KRT6A Keratin 6A ENSG00000205420 KRT6A, PC3 615726 Pachyonychia congenita 3 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal dominant 179850 Dowling-Degos disease 1 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal dominant 131760 Epidermolysis bullosa simplex, Dowling-Meara type 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal dominant 131900 Epidermolysis bullosa simplex, Koebner type 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal dominant 131800 Epidermolysis bullosa simplex, Weber-Cockayne type 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal recessive 601001 Epidermolysis bullosa simplex, recessive 1 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 Autosomal dominant 131960 Epidermolysis bullosa simplex-MP 3 +148040 KRT5 Keratin 5 ENSG00000186081 KRT5, DDD1 609352 Epidermylysis bullosa simplex-MCR 3 +608245 KRT71 Keratin 71 ENSG00000139648 KRT71, K6IRS1, KRT6IRS1, HYPT13 mutation identified in 1 HYPT13 family Autosomal dominant 615896 ?Hypotrichosis 13 3 +608248 KRT74 Keratin 74 ENSG00000170484 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH mutation identified in 1 HYPT3 family and ECTD7 family Autosomal recessive 614929 ?Ectodermal dysplasia 7, hair/nail type 3 +608248 KRT74 Keratin 74 ENSG00000170484 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH mutation identified in 1 HYPT3 family and ECTD7 family 613981 ?Hypotrichosis 3 3 +608248 KRT74 Keratin 74 ENSG00000170484 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH mutation identified in 1 HYPT3 family and ECTD7 family Autosomal dominant 194300 Woolly hair, autosomal dominant 3 +600194 KRT2 Keratin 2 ENSG00000172867 KRT2, KRT2A, KRT2E Autosomal dominant 146800 Ichthyosis bullosa of Siemens 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin Autosomal dominant 113800 Epidermolytic hyperkeratosis 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin Autosomal dominant 146590 Ichthyosis histrix, Curth-Macklin type 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin Autosomal dominant 607602 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin 607654 Keratosis palmoplantaris striata III 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin Autosomal dominant 144200 Palmoplantar keratoderma, epidermolytic 3 +139350 KRT1 Keratin 1 ENSG00000167768 KRT1, EPPK, NEPPK, EHK close to Hox-3 in mouse; class II keratin Autosomal dominant 600962 Palmoplantar keratoderma, nonepidermolytic 3 +148043 KRT3 Keratin 3 ENSG00000186442 KRT3 Autosomal dominant 122100 Meesmann corneal dystrophy 3 +123940 KRT4 Keratin 4 ENSG00000170477 KRT4, CYK4, WSN1 class II keratin Autosomal dominant 193900 White sponge nevus 1 3 +148060 KRT8 Keratin 8 ENSG00000170421 KRT8 Autosomal recessive 215600 Cirrhosis, cryptogenic 3 +148060 KRT8 Keratin 8 ENSG00000170421 KRT8 Autosomal recessive 215600 Cirrhosis, noncryptogenic, susceptibility to 3 +148070 KRT18 Keratin 18 ENSG00000111057 KRT18 contiguous to KRT8, type II heteromer partner Autosomal recessive 215600 Cirrhosis, cryptogenic 3 +148070 KRT18 Keratin 18 ENSG00000111057 KRT18 contiguous to KRT8, type II heteromer partner Autosomal recessive 215600 Cirrhosis, noncryptogenic, susceptibility to 3 +605378 AAAS Aladin ENSG00000094914 AAAS, AAA Autosomal recessive 231550 Achalasia-addisonianism-alacrimia syndrome 3 +606633 SP7 Transcription factor Sp7 ENSG00000170374 SP7, OSX, OI12 mutation identified in 1 OI12 patient Autosomal recessive 613849 ?Osteogenesis imperfecta, type XII 3 +600956 AMHR2 Anti-Mullerian hormone receptor, type II ENSG00000135409 AMHR2, AMHR Autosomal recessive 261550 Persistent Mullerian duct syndrome, type II 3 +142976 HOXC13 Homeo box-C13 ENSG00000123364 HOXC13, HOX3G, ECTD9 fused with NUP98 in AML Autosomal recessive 614931 Ectodermal dysplasia 9, hair/nail type 3 +164017 HNRNPA1 Heterogeneous nuclear ribonucleoprotein A1 ENSG00000135486 HNRNPA1, IBMPFD3, ALS20 mutation identified in 1 family with IBMPFD3 Autosomal dominant 615426 Amyotrophic lateral sclerosis 20 3 +164017 HNRNPA1 Heterogeneous nuclear ribonucleoprotein A1 ENSG00000135486 HNRNPA1, IBMPFD3, ALS20 mutation identified in 1 family with IBMPFD3 Autosomal dominant 615424 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 3 +600536 ITGA7 Integrin, alpha-7 ENSG00000135424 ITGA7 Autosomal recessive 613204 Muscular dystrophy, congenital, due to ITGA7 deficiency 3 +601617 RDH5 Retinol dehydrogenase-5 ENSG00000135437 RDH5 Autosomal recessive, Autosomal dominant 136880 Fundus albipunctatus 3 +601807 MMP19 Matrix metalloproteinase-19 ENSG00000123342 MMP19, MMP18, CODA triplication in upstream regulatory region Autosomal dominant 611543 Cavitary optic disc anomalies 3 +606887 SUOX Sulfite oxidase ENSG00000139531 SUOX Autosomal recessive 272300 Sulfite oxidase deficiency 3 +603701 RPS26 Ribosomal protein S26 ENSG00000197728 RPS26, DBA10 Autosomal dominant 613309 Diamond-Blackfan anemia 10 3 +190151 ERBB3 Transformation gene ERBB-3 ENSG00000065361 ERBB3, LCCS2 Autosomal recessive 607598 Lethal congenital contractural syndrome 2 3 +614375 Aortic aneurysm, familial abdominal, 4 AAA4 associated with rs1466535 614375 Aortic aneurysm, familial abdominal, 4 2 +608730 SLC39A5 Solute carrier family 39 (zinc transporter), member 5 ENSG00000139540 SLC39A5, MYP24 Autosomal dominant 615946 Myopia 24, autosomal dominant 3 +600556 STAT2 Signal transducer and activator of transcription 2 ENSG00000170581 STAT2, IMD44 Autosomal recessive 616636 Immunodeficiency 44 3 +154050 MIP Major intrinsic protein of lens fiber ENSG00000135517 MIP, AQP0, CTRCT15 slightly distal to AQP2 615274 Cataract 15, multiple types 3 +162330 TAC3 Tachykinin 3 (neuromedin K, neurokinin B) ENSG00000166863 TAC3, NKNB, HH10 Autosomal recessive 614839 Hypogonadotropic hypogonadism 10 with or without anosmia 3 +615521 STAC3 SH3 and cystein-rich domains 3 ENSG00000185482 STAC3, NAM Autosomal recessive 255995 Native American myopathy 3 +156560 MARS Methioninyl-tRNA synthetase ENSG00000166986 MARS, MTRNS, METRS, ILLD, CMT2U Autosomal dominant 616280 Charcot-Marie-Tooth disease, axonal, type 2U 3 +156560 MARS Methioninyl-tRNA synthetase ENSG00000166986 MARS, MTRNS, METRS, ILLD, CMT2U Autosomal recessive 615486 Interstitial lung and liver disease 3 +126337 DDIT3 DNA-damage-inducible transcript-3 ENSG00000175197 DDIT3, GADD153, CHOP10 fused with FUS in myxoid liposarcoma 613488 Myxoid liposarcoma 1 +602821 KIF5A Kinesin family member 5A ENSG00000155980 KIF5A, NKHC, SPG10 Autosomal dominant 604187 Spastic paraplegia 10, autosomal dominant 3 +601873 B4GALNT1 Beta-1,4-N-acetylgalactosaminyltransferase 1 ENSG00000135454 B4GALNT1, GALGT, GALNACT, SPG26 Autosomal recessive 609195 Spastic paraplegia 26, autosomal recessive 3 +177700 Glaucoma 1, open angle, P GLC1P caused by 300kb duplication Autosomal dominant 177700 Glaucoma 1, open angle, P 4 +123829 CDK4 Cyclin-dependent kinase 4 ENSG00000135446 CDK4, CMM3 Autosomal dominant 609048 Melanoma, cutaneous malignant, 3 3 +609506 CYP27B1 Cytochrome P450, subfamily XXVIIB, polypeptide 1 ENSG00000111012 CYP27B1, VDD1, PDDR Autosomal recessive 264700 Vitamin D-dependent rickets, type I 3 +604723 TSFM Ts translation elongation factor, mitochondrial ENSG00000123297 TSFM, COXPD3 Autosomal recessive 610505 Combined oxidative phosphorylation deficiency 3 3 +610908 Autism, susceptibility to, 13 AUTS13 linkage with rs1445442 610908 Autism susceptibility 13 2 +613893 DPY19L2 DPY19-like 2 ENSG00000177990 DPY19L2, SPGF9 pseudogene on 7p14.3 Autosomal recessive 613958 Spermatogenic failure 9 3 +605862 TMEM5 Transmembrane protein 5 ENSG00000118600 TMEM5, MDDGA10 Autosomal recessive 615041 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 3 +606523 SRGAP1 Slit-robo GTPase-activating protein, rho, 1 ENSG00000196935 SRGAP1, KIAA1304, NMTC2 Autosomal dominant 188470 Thyroid cancer, nonmedullary, 2 3 +604834 TBK1 TANK-binding kinase 1 ENSG00000183735 TBK1, NAK, FTDALS4 Autosomal dominant 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 3 +611547 Stature quantitative trait locus 9 STQTL9 associated with rs1042725 611547 Stature QTL 9 2 +607664 GNS N-acetylglucosamine-6-sulfatase ENSG00000135677 GNS, G6S Autosomal recessive 252940 Mucopolysaccharidosis type IIID 3 +607844 LEMD3 LEM domain-containing 3 ENSG00000174106 LEMD3, MAN1 Autosomal dominant 166700 Buschke-Ollendorff syndrome 3 +607844 LEMD3 LEM domain-containing 3 ENSG00000174106 LEMD3, MAN1 Isolated cases 155950 Melorheostosis with osteopoikilosis 3 +607844 LEMD3 LEM domain-containing 3 ENSG00000174106 LEMD3, MAN1 Autosomal dominant 166700 Osteopoikilosis 3 +613719 MSRB3 Methionine sulfoxide reductase B3 ENSG00000174099 MSRB3, DFNB74 Autosomal recessive 613718 Deafness, autosomal recessive 74 3 +600698 HMGA2 High-mobility group AT-hook 2 ENSG00000149948 HMGA2, HMGIC, BABL fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas 150699 Leiomyoma, uterine, somatic 1 +604459 IRAK3 Interleukin 1 receptor-associated kinase 3 ENSG00000090376 IRAK3, IRAKM, ASRT5 611064 Asthma susceptibility 5 3 +604597 GRIP1 Glutamate receptor-interacting protein 1 ENSG00000155974 GRIP1 Autosomal recessive 219000 Fraser syndrome 3 +612639 Inflammatory bowel disease 26 IBD26 associated with rs1558744 612639 Inflammatory bowel disease 26 2 +147570 IFNG Interferon, gamma ENSG00000111537 IFNG, IFG, IFI 3 introns; none in IFF, IFL 609423 AIDS, rapid progression to 3 +147570 IFNG Interferon, gamma ENSG00000111537 IFNG, IFG, IFI 3 introns; none in IFF, IFL 609135 Aplastic anemia 3 +147570 IFNG Interferon, gamma ENSG00000111537 IFNG, IFG, IFI 3 introns; none in IFF, IFL 609532 Hepatitis C virus, response to therapy of 3 +147570 IFNG Interferon, gamma ENSG00000111537 IFNG, IFG, IFI 3 introns; none in IFF, IFL Autosomal dominant 613254 TSC2 angiomyolipomas, renal, modifier of 3 +147570 IFNG Interferon, gamma ENSG00000111537 IFNG, IFG, IFI 3 introns; none in IFF, IFL 607948 Tuberculosis, protection against 3 +607617 NUP107 Nucleoporin, 107kD ENSG00000111581 NUP107, NUP84, NPHS11 Autosomal recessive 616730 Nephrotic syndrome, type 11 3 +164785 MDM2 Mouse double minute 2, homolog of (p53-binding protein) ENSG00000135679 MDM2, ACTFS 614401 Accelerated tumor formation, susceptibility to 3 +153450 LYZ Lysozyme ENSG00000090382 LYZ Autosomal dominant 105200 Amyloidosis, renal 3 +612715 Dyschromatosis universalis hereditaria 2 DUH2 between rs1921045 and rs2373584 612715 Dyschromatosis universalis hereditaria 2 2 +603221 MYP3 Myopia, high grade, 3, autosomal dominant MYP3 Autosomal dominant 603221 Myopia-3 2 +607478 TPH2 Tryptophan hydroxylase 2 ENSG00000139287 TPH2, NTPH, ADHD7 613003 Attention deficit-hyperactivity disorder, susceptibility to, 7 3 +607478 TPH2 Tryptophan hydroxylase 2 ENSG00000139287 TPH2, NTPH, ADHD7 608516 Unipolar depression, susceptibility to 3 +610148 BBS10 BBS10 gene ENSG00000179941 BBS10, C12orf58, FLJ23560 Autosomal recessive 615987 Bardet-Biedl syndrome 10 3 +614925 OTOGL Otogelin-like protein ENSG00000165899 OTOGL, C12orf64, DFNB84B Autosomal recessive 614944 Deafness, autosomal recessive 84B 3 +603317 PTPRQ Protein-tyrosine phosphatase, receptor-type, Q ENSG00000139304 PTPRQ, PTPGMC1, DFNB84A Autosomal recessive 613391 Deafness, autosomal recessive 84A 3 +159991 MYF6 Myogenic factor-6 ENSG00000111046 MYF6, CNM3 6.5kb upstream from MYF5; both prob. 12q15, by H Autosomal dominant 614408 Myopathy, centronuclear, 3 3 +601527 ALX1 Aristaless-like homeobox 1 (cartilage homeoprotein 1) ENSG00000180318 ALX1, CART1, FND3 mutation identified in 1 FND3 patient 613456 ?Frontonasal dysplasia 3 3 +610142 CEP290 Centrosomal protein, 290kD ENSG00000198707 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 mutation identified in 1 BBS14 family Autosomal recessive 615991 ?Bardet-Biedl syndrome 14 3 +610142 CEP290 Centrosomal protein, 290kD ENSG00000198707 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 mutation identified in 1 BBS14 family Autosomal recessive 610188 Joubert syndrome 5 3 +610142 CEP290 Centrosomal protein, 290kD ENSG00000198707 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 mutation identified in 1 BBS14 family 611755 Leber congenital amaurosis 10 3 +610142 CEP290 Centrosomal protein, 290kD ENSG00000198707 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 mutation identified in 1 BBS14 family Autosomal recessive 611134 Meckel syndrome 4 3 +610142 CEP290 Centrosomal protein, 290kD ENSG00000198707 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 mutation identified in 1 BBS14 family Autosomal recessive 610189 Senior-Loken syndrome 6 3 +184745 KITLG KIT ligand (mast cell growth factor; steel, mouse, homolog of) ENSG00000049130 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 associated with dbSNP rs12821256 Autosomal dominant 616697 Deafness, autosomal dominant 69, unilateral or asymmetric 3 +184745 KITLG KIT ligand (mast cell growth factor; steel, mouse, homolog of) ENSG00000049130 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 associated with dbSNP rs12821256 Autosomal dominant 145250 Hyperpigmentation with or without hypopigmentation 3 +184745 KITLG KIT ligand (mast cell growth factor; steel, mouse, homolog of) ENSG00000049130 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 associated with dbSNP rs12821256 611664 Skin/hair/eye pigmentation 7, blond/brown hair 3 +121400 CNA1 Cornea plana 1, autosomal dominant CNA1 between D12S82 and D12S351 Autosomal dominant 121400 Cornea plana 1, autosomal dominant 2 +602748 DUSP6 Dual-specificity phosphatase-6 ENSG00000139318 DUSP6, MKP3, PYST1, HH19 Autosomal dominant 615269 Hypogonadotropic hypogonadism 19 with or without anosmia 3 +614784 POC1B POC1 centriolar protein, Chlamydomonas, homolog of, B ENSG00000139323 POC1B, PIX1, CORD20 Autosomal recessive 615973 Cone-rod dystrophy 20 3 +603288 KERA Keratocan ENSG00000139330 KERA, CNA2 Autosomal recessive 217300 Cornea plana 2, autosomal recessive 3 +125255 DCN Decorin ENSG00000011465 DCN, CSCD conflicting assignments to 12q23 and 12q13.2 Autosomal dominant 610048 Corneal dystrophy, congenital stromal 3 +608096 Epilepsy, familial temporal lobe ETL2, FTLE max lod at D12S1706 Autosomal dominant 608096 Epilepsy, familial temporal lobe, 2 2 +608520 Major depressive disorder MDD1 max lod with D12S1706 608516 Major depressive disorder 1 2 +273300 Male germ cell tumor MGCT Somatic mutation 273300 Male germ cell tumor 2 +603454 CRADD Caspase and RIP adaptor with death domain ENSG00000169372 CRADD, RAIDD, MRT34 614499 Mental retardation, autosomal recessive 34 3 +615847 CEP83 Centrosomal protein, 83kD ENSG00000173588 CEP83, CCDC41, NPHP18 Autosomal recessive 615862 Nephronophthisis 18 3 +614530 NDUFA12 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12 ENSG00000184752 NDUFA12 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial complex 1 deficiency 3 +613096 SPG36 Spastic paraplegia-36 SPG36 between D12S360 and D12S354 Autosomal dominant 613096 Spastic paraplegia 36, autosomal dominant 2 +609457 HAL Histidine ammonia-lyase (histidase) ENSG00000084110 HAL, HSTD Autosomal dominant 235800 Histidinemia 3 +188380 TMPO Thymopoietin ENSG00000120802 TMPO, LAP2, CMD1T mutation identified in 1 family with CMD1T 613740 ?Cardiomyopathy, dilated, 1T 3 +600370 SLC25A3 Solute carrier family 25 (mitochondrial carrier), member 3 ENSG00000075415 SLC25A3, PHC 610773 Mitochondrial phosphate carrier deficiency 3 +607557 SLC17A8 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (vesicular glutamate transporter 3) ENSG00000179520 SLC17A8, VGLUT3, DFNA25 Autosomal dominant 605583 Deafness, autosomal dominant 25 3 +603826 NR1H4 Nuclear recetpor subfamily 1 group H member 4 ENSG00000012504 NR1H4, FXR, RIP14, PFIC5 Autosomal recessive 617049 Cholestasis, progressive familial intrahepatic, 5 3 +160794 MYBPC1 Myosin-binding protein C, slow type ENSG00000196091 MYBPC1, LCCS4 614335 Arthrogryposis, distal, type 1B 3 +160794 MYBPC1 Myosin-binding protein C, slow type ENSG00000196091 MYBPC1, LCCS4 Autosomal recessive 614915 Lethal congenital contracture syndrome 4 3 +604759 SYCP3 Synaptonemal complex protein 3 ENSG00000139351 SYCP3, SCP3, COR1, SPGF4, RPRGL4 Autosomal dominant 270960 Pregnancy loss, recurrent, 4 3 +604759 SYCP3 Synaptonemal complex protein 3 ENSG00000139351 SYCP3, SCP3, COR1, SPGF4, RPRGL4 Autosomal dominant 270960 Spermatogenic failure 4 3 +607840 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits ENSG00000111670 GNPTAB, GNPTA conflicting assignment to 4q Autosomal recessive 252500 Mucolipidosis II alpha/beta 3 +607840 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits ENSG00000111670 GNPTAB, GNPTA conflicting assignment to 4q Autosomal recessive 252600 Mucolipidosis III alpha/beta 3 +147440 IGF1 Insulin-like growth factor-1, or somatomedin C ENSG00000017427 IGF1 Autosomal recessive 608747 Growth retardation with deafness and mental retardation due to IGF1 deficiency 3 +612349 PAH Phenylalanine hydroxylase ENSG00000171759 PAH, PKU1 close to IGF1 Autosomal recessive 261600 Hyperphenylalaninemia, non-PKU mild 3 +612349 PAH Phenylalanine hydroxylase ENSG00000171759 PAH, PKU1 close to IGF1 Autosomal recessive 261600 Phenylketonuria 3 +100790 ASCL1 Achaete-scute complex, Drosophila, homolog-like 1 ENSG00000139352 ASCL1, ASH1 distal to PAH and proximal to TRA1 Autosomal dominant 209880 Central hypoventilation syndrome, congenital 3 +100790 ASCL1 Achaete-scute complex, Drosophila, homolog-like 1 ENSG00000139352 ASCL1, ASH1 distal to PAH and proximal to TRA1 Autosomal dominant 209880 Haddad syndrome 3 +615748 KIAA1033 Strumpellin and WASH-interacting protein ENSG00000136051 KIAA1033, SWIP, MRT43 mutation identified in 1 MRT43 family Autosomal recessive 615817 ?Mental retardation, autosomal recessive 43 3 +614366 POLR3B Polymerase III, RNA, subunit B ENSG00000013503 POLR3B, RPC2, C128, HLD8 Autosomal recessive 614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 3 +611911 ISCU Iron-sulfur cluster scaffold, E. coli, homolog of ENSG00000136003 ISCU, HML Autosomal recessive 255125 Myopathy with lactic acidosis, hereditary 3 +612011 Celiac disease, susceptibility to, 13 CELIAC13 associated with rs3184504 612011 Celiac disease, susceptibility to, 13 2 +608447 Carotid intimal medial thickness CIMT 161cM from pter; near SCARB1 608447 Carotid intimal medial thickness 2 +607411 Patent ductus arteriosus PDA1 Autosomal recessive 607411 Patent ductus arteriosus, susceptibility to 2 +175850 Porokeratosis 2, palmar, plantar, and disseminated POROK2, PPPD1 between D12S1613 and D12S1341 Autosomal dominant 175850 Porokeratosis 2, palmar, plantar, and disseminated 2 +608437 Systemic lupus erythematosus, susceptibility to, 4 SLEB4 608437 Systemic lupus erythematosus, susceptibility to, 4 2 +609261 Stuttering, familial persistent, 2 STUT2 max lod with PAH 609261 Stuttering, familial persistent, 2 2 +124050 DAO D-amino-acid oxidase ENSG00000110887 DAO, DAMOX tightly linked to SCA2 Autosomal dominant 181500 Schizophrenia 2 +191525 UNG Uracil-DNA glycosylase ENSG00000076248 UNG, DGU, HIGM5 Autosomal recessive 608106 Immunodeficiency with hyper IgM, type 5 3 +608047 UBE3B Ubiquitin-protein ligase E3B ENSG00000151148 UBE3B, BPIDS, KOS Autosomal recessive 244450 Kaufman oculocerebrofacial syndrome 3 +607568 MMAB MMAB gene ENSG00000139428 MMAB Autosomal recessive 251110 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 3 +251170 MVK Mevalonate kinase ENSG00000110921 MVK, MVLK, POROK3 Autosomal recessive 260920 Hyper-IgD syndrome 3 +251170 MVK Mevalonate kinase ENSG00000110921 MVK, MVLK, POROK3 Autosomal recessive 610377 Mevalonic aciduria 3 +251170 MVK Mevalonate kinase ENSG00000110921 MVK, MVLK, POROK3 Autosomal dominant 175900 Porokeratosis 3, multiple types 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 113500 Brachyolmia type 3 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 606835 Digital arthropathy-brachydactyly, familial 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 606071 Hereditary motor and sensory neuropathy, type IIc 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 156530 Metatropic dysplasia 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 168400 Parastremmatic dwarfism 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 184095 SED, Maroteaux type 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 181405 Scapuloperoneal spinal muscular atrophy 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 613508 Sodium serum level QTL 1 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 600175 Spinal muscular atrophy, distal, congenital nonprogressive 3 +605427 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) ENSG00000111199 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Autosomal dominant 184252 Spondylometaphyseal dysplasia, Kozlowski type 3 +108740 ATP2A2 ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 ENSG00000174437 ATP2A2, ATP2B, DAR Autosomal dominant 101900 Acrokeratosis verruciformis 3 +108740 ATP2A2 ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 ENSG00000174437 ATP2A2, ATP2B, DAR Autosomal dominant 124200 Darier disease 3 +609863 TCTN1 Tectonic family, member 1 ENSG00000204852 TECT1, JBTS13 Autosomal recessive 614173 Joubert syndrome 13 3 +160781 MYL2 Myosin, light polypeptide-2, regulatory, cardiac, slow ENSG00000111245 MYL2, CMH10 608758 Cardiomyopathy, hypertrophic, 10 3 +605093 SH2B3 SH2B adaptor protein 3 ENSG00000111252 SH2B3, LNK 133100 Erythrocytosis, somatic 3 +605093 SH2B3 SH2B adaptor protein 3 ENSG00000111252 SH2B3, LNK 254450 Myelofibrosis, somatic 3 +605093 SH2B3 SH2B adaptor protein 3 ENSG00000111252 SH2B3, LNK 187950 Thrombocythemia, somatic 3 +601517 ATXN2 Ataxin-2 ENSG00000204842 ATXN2, ATX2, SCA2, ASL13 Autosomal dominant 183090 Amyotrophic lateral sclerosis, susceptibility to, 13 3 +601517 ATXN2 Ataxin-2 ENSG00000204842 ATXN2, ATX2, SCA2, ASL13 Isolated cases, Multifactorial 168600 Parkinson disease, late-onset, susceptibility to 3 +601517 ATXN2 Ataxin-2 ENSG00000204842 ATXN2, ATX2, SCA2, ASL13 Autosomal dominant 183090 Spinocerebellar ataxia 2 3 +100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ENSG00000111275 ALDH2 610251 Alcohol sensitivity, acute 3 +100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ENSG00000111275 ALDH2 Esophageal cancer, alcohol-related, susceptibility to 3 +100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ENSG00000111275 ALDH2 610251 Hangover, susceptibility to 3 +100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ENSG00000111275 ALDH2 Sublingual nitroglycerin, susceptibility to poor response to 3 +176876 PTPN11 Protein tyrosine phosphatase, nonreceptor-type, 11 ENSG00000179295 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS Autosomal dominant 151100 LEOPARD syndrome 1 3 +176876 PTPN11 Protein tyrosine phosphatase, nonreceptor-type, 11 ENSG00000179295 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS 607785 Leukemia, juvenile myelomonocytic, somatic 3 +176876 PTPN11 Protein tyrosine phosphatase, nonreceptor-type, 11 ENSG00000179295 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS Autosomal dominant 156250 Metachondromatosis 3 +176876 PTPN11 Protein tyrosine phosphatase, nonreceptor-type, 11 ENSG00000179295 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS Autosomal dominant 163950 Noonan syndrome 1 3 +164350 OAS1 2',5'-oligoadenylate synthetase-1 ENSG00000089127 OAS1, OIAS Autosomal recessive 222100 Diabetes mellitus, type 1, susceptibility to 3 +164350 OAS1 2',5'-oligoadenylate synthetase-1 ENSG00000089127 OAS1, OIAS Viral infection, susceptibility to 3 +614422 Cataract 37 CTRCT37, CCA5 between D12S1718 and D12S1723 Autosomal dominant 614422 Cataract 37, autosomal dominant 2 +601407 NIDDM2 Diabetes mellitus, noninsulin-dependent, 2 NIDDM2 no mutations found in HNF1A 601407 Diabetes mellitus, noninsulin-dependent, 2 2 +601620 TBX5 T-box 5 ENSG00000089225 TBX5 Autosomal dominant 142900 Holt-Oram syndrome 3 +601621 TBX3 T-box 3 ENSG00000135111 TBX3 Autosomal dominant 181450 Ulnar-mammary syndrome 3 +608771 MED13L Mediator complex subunit 13-like ENSG00000123066 MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD Autosomal dominant 616789 Mental retardation and distinctive facial features with or without cardiac defects 3 +608771 MED13L Mediator complex subunit 13-like ENSG00000123066 MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD Autosomal dominant 608808 Transposition of the great arteries, dextro-looped 1 3 +608014 HSPB8 Heat-shock 22-kD protein 8 ENSG00000152137 HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A Autosomal dominant 608673 Charcot-Marie-Tooth disease, axonal, type 2L 3 +608014 HSPB8 Heat-shock 22-kD protein 8 ENSG00000152137 HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A Autosomal dominant 158590 Neuropathy, distal hereditary motor, type IIA 3 +605629 CIT Citron rho-interacting serine/threonine kinase ENSG00000122966 CIT, STK21, CRIK, MCPH17 Autosomal recessive 617090 Microcephaly 17, primary, autosomal recessive 3 +612573 Mean platelet volume quantitative trait locus 1 MPVQTL1 associated with rs7961894 612573 Mean platelet volume QTL1 2 +602072 COX6A1 Cytochrome c oxidase, subunit VIa, polypeptide-1 ENSG00000111775 COX6A1, CMTRID pseudogenes on chr.7 and chr.6 Autosomal recessive 616039 Charcot-Marie-Tooth disease, recessive intermediate D 3 +606885 ACADS Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ENSG00000122971 ACADS, SCAD Autosomal recessive 201470 Acyl-CoA dehydrogenase, short-chain, deficiency of 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 612520 Diabetes mellitus, insulin-dependent, 20 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 Autosomal recessive 222100 Diabetes mellitus, insulin-dependent 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, 2 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 142330 Hepatic adenoma, somatic 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 Autosomal dominant 600496 MODY, type III 3 +142410 HNF1A HNF1 homeobox B ENSG00000135100 HNF1A, TCF1, MODY3, IDDM20 144700 Renal cell carcinoma 3 +610277 ORAI1 ORAI calcium release-activated calcium modulator 1 ORAI1, TMEM142A, CRACM1, IMD9, TAM2 Autosomal recessive 612782 Immunodeficiency 9 3 +610277 ORAI1 ORAI calcium release-activated calcium modulator 1 ORAI1, TMEM142A, CRACM1, IMD9, TAM2 Autosomal dominant 615883 Myopathy, tubular aggregate, 2 3 +609695 HPD 4-hydroxyphenylpyruvate dioxygenase ENSG00000158104 HPD Autosomal dominant 140350 Hawkinsinuria 3 +609695 HPD 4-hydroxyphenylpyruvate dioxygenase ENSG00000158104 HPD Autosomal recessive 276710 Tyrosinemia, type III 3 +601406 BCL7A B-cell CLL/lymphoma-7A ENSG00000282873 BCL7A, BCL7 B-cell non-Hodgkin lymphoma, high-grade 3 +605219 DIABLO Second mitochondria-derived activator of caspase ENSG00000184047 SMAC, DIABLO, DFNA64 Autosomal dominant 614152 Deafness, autosomal dominant 64 3 +613541 C12orf65 Chromosome 12 open reading frame 65 ENSG00000130921 C12orf65, COXPD7, SPG55 Autosomal recessive 613559 Combined oxidative phosphorylation deficiency 7 3 +613541 C12orf65 Chromosome 12 open reading frame 65 ENSG00000130921 C12orf65, COXPD7, SPG55 Autosomal recessive 615035 Spastic paraplegia 55, autosomal recessive 3 +606686 EIF2B1 Eukaryotic translation initiation factor 2B, subunit 1 ENSG00000111361 EIF2B1, EIF2BA Autosomal recessive 603896 Leukoencephalopathy with vanishing white matter 3 +613846 TCTN2 Tectonic family, member 2 ENSG00000168778 TCTN2, TECT2, MKS8, JBTS24 mutation identified in 1 MKS8 family Autosomal recessive 616654 Joubert syndrome 24 3 +613846 TCTN2 Tectonic family, member 2 ENSG00000168778 TCTN2, TECT2, MKS8, JBTS24 mutation identified in 1 MKS8 family Autosomal recessive 613885 ?Meckel syndrome 8 3 +611716 ATP6V0A2 ATPase, H+ transporting, lysosomal, V0 subunit A2 ENSG00000185344 ATP6V0A2, WSS, ARCL2A Autosomal recessive 219200 Cutis laxa, autosomal recessive, type IIA 3 +611716 ATP6V0A2 ATPase, H+ transporting, lysosomal, V0 subunit A2 ENSG00000185344 ATP6V0A2, WSS, ARCL2A Autosomal recessive 278250 Wrinkly skin syndrome 3 +601040 SCARB1 Scavenger receptor class B, member 1 (CD36 antigen-like 1) ENSG00000073060 SCARB1, CD36L1, CLA1, HDLQTL6 610762 High density lipoprotein cholesterol level QTL6 3 +608109 PUS1 Pseudourine synthase 1 ENSG00000177192 PUS1, MLASA1 Autosomal recessive 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 3 +600844 P2RX2 Purinergic receptor P2X, ligand-gated ion channel, 2 ENSG00000187848 P2RX2, P2X2, DFNA41 Autosomal dominant 608224 Deafness, autosomal dominant 41 3 +174762 POLE Polymerase (DNA directed), epsilon-1 ENSG00000177084 POLE1, CRCS12, FILS Autosomal dominant 615083 Colorectal cancer, susceptibility to, 12 3 +174762 POLE Polymerase (DNA directed), epsilon-1 ENSG00000177084 POLE1, CRCS12, FILS Autosomal recessive 615139 FILS syndrome 3 +616062 ANKLE2 Ankyrin repeat- and LEM domain-containing protein 2 ENSG00000176915 ANKLE2, LEM4, KIAA0692, MCPH16 mutation identified in 1 MCPH16 family Autosomal recessive 616681 ?Microcephaly 16, primary, autosomal recessive 3 +610158 Corneal dystrophy, Fuchs endothelial, 2 FECD2, FCD1 max lod at D13S1304 Autosomal dominant 610158 Corneal dystrophy, Fuchs endothelial, 2 2 +604595 Cholesterol level quantitative trait locus 1 CLQTL1, CLF 604595 Cholesterol level QTL 1 2 +612312 Attention deficit-hyperactivity disorder, susceptibility to, 6 ADHD6 max lod at rs1974047 612312 Attention deficit-hyperactivity disorder, susceptibility to, 6 2 +605844 Dermatitis, atopic, 5 ATOD5 max lod at D13S218 605844 Dermatitis, atopic, susceptibility to, 5 2 +609384 Fibrosis of extraocular muscles, congenital, 3C CFEOM3C, FEOM4 Autosomal dominant 609384 Fibrosis of extraocular muscles, congenital, 3C 2 +608557 Myocardial infarction, susceptibility to, 2 MCI2 defined by 4-SNP haplotype HapA 608557 Myocardial infarction, susceptibility to, 2 2 +121015 GJA3 Gap junction protein, alpha-3, 46kD (connexin 46) ENSG00000121743 GJA3, CX46, CZP3, CAE3, CTRCT14 Autosomal dominant 601885 Cataract 14, multiple types 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 149200 Bart-Pumphrey syndrome 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 601544 Deafness, autosomal dominant 3A 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal recessive, Digenic dominant 220290 Deafness, autosomal recessive 1A 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 602540 Hystrix-like ichthyosis with deafness 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 148210 Keratitis-ichthyosis-deafness syndrome 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 148350 Keratoderma, palmoplantar, with deafness 3 +121011 GJB2 Gap junction protein, beta-2, 26kD (connexin 26) ENSG00000165474 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID Autosomal dominant 124500 Vohwinkel syndrome 3 +604418 GJB6 Gap junction protein, beta-6 (connexin-30) ENSG00000121742 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Autosomal dominant 612643 Deafness, autosomal dominant 3B 3 +604418 GJB6 Gap junction protein, beta-6 (connexin-30) ENSG00000121742 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Autosomal recessive 612645 Deafness, autosomal recessive 1B 3 +604418 GJB6 Gap junction protein, beta-6 (connexin-30) ENSG00000121742 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Autosomal recessive, Digenic dominant 220290 Deafness, digenic GJB2/GJB6 3 +604418 GJB6 Gap junction protein, beta-6 (connexin-30) ENSG00000121742 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Autosomal dominant 129500 Ectodermal dysplasia 2, Clouston type 3 +600921 FGF9 Fibroblast growth factor-9 (glia-activating factor) ENSG00000102678 FGF9, SYNS3 mutation identified in 1 SYNS3 family Autosomal dominant 612961 ?Multiple synostoses syndrome 3 3 +614166 Myopia 20, autosomal dominant MYP20 associated with rs9318086 614166 Myopia 20, autosomal dominant 2 +608896 SGCG Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein) ENSG00000102683 SGCG, LGMD2C, DMDA1, SCG3 Autosomal recessive 253700 Muscular dystrophy, limb-girdle, type 2C 3 +604490 SACS Sacsin ENSG00000151835 SACS, ARSACS Autosomal recessive 270550 Spastic ataxia, Charlevoix-Saguenay type 3 +609279 CENPJ Centromeric protein J ENSG00000151849 CENPJ, CPAP, MCPH6, SCKL4 mutation identified in 1 SCKL4 family Autosomal recessive 608393 Microcephaly 6, primary, autosomal recessive 3 +609279 CENPJ Centromeric protein J ENSG00000151849 CENPJ, CPAP, MCPH6, SCKL4 mutation identified in 1 SCKL4 family Autosomal recessive 613676 ?Seckel syndrome 4 3 +605870 ATP8A2 ATPase, class I, type 8A, member 2 ENSG00000132932 ATP8A2, ATPIB, CAMRQ4 Autosomal recessive 615268 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 3 +604242 RNF6 RING finger protein-6 ENSG00000127870 RNF6 133239 Esophageal carcinoma, somatic 3 +157900 MBS1 Moebius syndrome MBS, MBS1 Autosomal dominant, Isolated cases 157900 ?Moebius syndrome 2 +603636 RPL21 Ribosomal protein L21 ENSG00000122026 RPL21, HYPT12 Autosomal dominant 615885 Hypotrichosis 12 3 +613715 POLR1D Polymerase I, RNA, subunit D ENSG00000186184 POLR1D, RPA16, RPAC2, TCS2 Autosomal dominant 613717 Treacher Collins syndrome 2 3 +600733 PDX1 Pancreas/duodenum homeobox protein 1 ENSG00000139515 PDX1, IPF1, MODY4, PAGEN1 Autosomal dominant 125853 Diabetes mellitus, type II, susceptibility to 3 +600733 PDX1 Pancreas/duodenum homeobox protein 1 ENSG00000139515 PDX1, IPF1, MODY4, PAGEN1 606392 MODY, type IV 3 +600733 PDX1 Pancreas/duodenum homeobox protein 1 ENSG00000139515 PDX1, IPF1, MODY4, PAGEN1 Autosomal recessive 260370 Pancreatic agenesis 1 3 +136351 FLT3 fms-related tyrosine kinase-3 ENSG00000122025 FLT3 613065 Leukemia, acute lymphoblastic, somatic 3 +136351 FLT3 fms-related tyrosine kinase-3 ENSG00000122025 FLT3 601626 Leukemia, acute myeloid, reduced survival in, somatic 3 +136351 FLT3 fms-related tyrosine kinase-3 ENSG00000122025 FLT3 601626 Leukemia, acute myeloid, somatic 3 +613386 POMP Proteasome maturation protein ENSG00000132963 POMP, UMP1 Autosomal recessive 601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 3 +603700 ALOX5AP Arachidonate 5-lipoxygenase-activating protein ENSG00000132965 ALOX5AP, FLAP Multifactorial 601367 Stroke, susceptibility to 3 +610308 B3GLCT Beta 3-glucosyltransferase ENSG00000187676 B3GLCT, B3GALTL, B3GTL Autosomal recessive 261540 Peters-plus syndrome 3 +600631 ENUR1 Enuresis, nocturnal, 1 ENUR1 Autosomal dominant 600631 Enuresis, nocturnal, 1 2 +612089 Hypophosphatemic rickets and hyperparathyroidism HPRHP ?due to altered KLOTHO expression Autosomal dominant 612089 Hypophosphatemic rickets and hyperparathyroidism 2 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal dominant 114480 Breast cancer, male, susceptibility to 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal dominant 612555 Breast-ovarian cancer, familial, 2 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal recessive 605724 Fanconi anemia, complementation group D1 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal recessive 613029 Glioblastoma 3 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal dominant 155255 Medulloblastoma 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 613347 Pancreatic cancer 2 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal dominant 176807 Prostate cancer 3 +600185 BRCA2 BRCA2 gene ENSG00000139618 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 Autosomal dominant, Somatic mutation 194070 Wilms tumor 3 +604824 KL Klotho ENSG00000133116 KL, KLOTHO Coronary artery disease, susceptibility to 3 +604824 KL Klotho ENSG00000133116 KL, KLOTHO Autosomal recessive 211900 Tumoral calcinosis, hyperphosphatemic 3 +612796 Inflammatory bowel disease 27 IBD27 612796 Inflammatory bowel disease 27 2 +263450 Polydactyly, postaxial, type A5 PAPA5 between D13S1288 and D13S632 Autosomal recessive 263450 Polydactyly, postaxial, type A5 2 +607111 SPG20 Spartin ENSG00000133104 SPG20 Autosomal recessive 275900 Troyer syndrome 3 +601861 RFXAP Regulatory factor X-associated protein ENSG00000133111 RFXAP Autosomal recessive 209920 Bare lymphocyte syndrome, type II, complementation group D 3 +603295 SMAD9 Mothers against decapentaplegic, Drosophila, homolog of, 9 ENSG00000120693 MADH9, SMAD9, MADH6, PPH2 Autosomal dominant 615342 Pulmonary hypertension, primary, 2 3 +606019 EXOSC8 Exosome component 8 ENSG00000120699 EXOSC8, OIP2, RRP43, PCH1C Autosomal recessive 616081 Pontocerebellar hypoplasia, type 1C 3 +608945 FREM2 FRAS1-related extracellular matrix protein 2 ENSG00000150893 FREM2 Autosomal recessive 219000 Fraser syndrome 3 +606643 BMIQ2 Body mass index quantitative trait locus 2 BMIQ2 max lod at D13S257 606643 Body mass index QTL2 2 +612110 Bone mineral density quantitative trait locus 9 BMND9 associated with rs9594759 612110 Bone mineral density QTL 9 2 +109543 Leukemia, chronic lymphocytic, susceptibility to, 2 CLLS2, D13S25, DBM >530kb telomeric to RB1 Autosomal dominant 109543 Leukemia, chronic lymphocytic, susceptibility to, 2 2 +613884 Chromosome 13q14 deletion syndrome DEL13q14, C13DELq14 Autosomal dominant, Isolated cases 613884 Chromosome 13q14 deletion syndrome 4 +109350 Gastroesophageal reflux GER Autosomal dominant 109350 Gastroesophageal reflux 2 +613407 Leprosy, susceptibility to, 6 LPRS6 associated with rs9533634 and rs3764147 613407 Leprosy, susceptibility to, 6 2 +601499 RIEG2 Rieger syndrome, type 2 RIEG2, RGS2 Autosomal dominant 601499 Rieger syndrome, type 2 2 +607584 SPG24 Spastic paraplegia 24, autosomal recessive SPG24 Autosomal recessive 607584 Spastic paraplegia 24, autosomal recessive 2 +606977 COG6 Component of oligomeric golgi complex 6 ENSG00000133103 COG6, COD2, KIAA1134, CDG2L, SHNS Autosomal recessive 614576 Congenital disorder of glycosylation, type IIl 3 +606977 COG6 Component of oligomeric golgi complex 6 ENSG00000133103 COG6, COD2, KIAA1134, CDG2L, SHNS Autosomal recessive 615328 Shaheen syndrome 3 +136533 FOXO1 Forkhead box O1A (forkhead in rhabdomyosarcoma) ENSG00000150907 FOXO1A, FKHR chimeric with PAX3 in t(2;13); fuses with PAX3 Autosomal recessive 268220 Rhabdomyosarcoma, alveolar 3 +603861 SLC25A15 Solute carrier family 25 (mitochondrial carrier), member 15 (ornithine transporter 1) ENSG00000102743 SLC25A15, ORNT1, HHH with deficiency of factors VII and X in 3 unrelated cases Autosomal recessive 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 3 +602642 TNFSF11 Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin ligand) ENSG00000120659 TNFSF11, OPGL, TRANCE, OPTB2 Autosomal recessive 259710 Osteopetrosis, autosomal recessive 2 3 +608049 Autism, susceptibility to, 3 AUTS3 Isolated cases, Multifactorial 608049 Autism susceptibility 3 2 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A Multifactorial 103780 Alcohol dependence, susceptibility to 3 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A 606788 Anorexia nervosa, susceptibility to 3 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A 608516 Major depressive disorder, response to citalopram therapy in 3 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A Autosomal dominant 164230 Obsessive-compulsive disorder, susceptibility to 3 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A ENSG00000102468 HTR2A 608516 Seasonal affective disorder, susceptibility to 3 +603921 SUCLA2 Succinate-CoA ligase, ADP-forming, beta subunit ENSG00000136143 SUCLA2, MTDPS5 Autosomal recessive 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 3 +615792 NUDT15 Nucleoside diphosphate-linked moiety X motif 15 ENSG00000136159 NUDT15, MTH2, NUDT15D Autosomal dominant 616903 Thiopurines, poor metabolism of, 2 3 +603904 ITM2B Integral membrane protein 2B (BRI gene) ENSG00000136156 ITM2B, BRI, ABRI, FBD, RDGCA mutation identified in 1 RDGCA family Autosomal dominant 176500 Dementia, familial British 3 +603904 ITM2B Integral membrane protein 2B (BRI gene) ENSG00000136156 ITM2B, BRI, ABRI, FBD, RDGCA mutation identified in 1 RDGCA family Autosomal dominant 117300 Dementia, familial Danish 3 +603904 ITM2B Integral membrane protein 2B (BRI gene) ENSG00000136156 ITM2B, BRI, ABRI, FBD, RDGCA mutation identified in 1 RDGCA family Autosomal dominant 616079 ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 3 +614041 RB1 Retinoblastoma-1 ENSG00000139687 RB1 109800 Bladder cancer, somatic 3 +614041 RB1 Retinoblastoma-1 ENSG00000139687 RB1 259500 Osteosarcoma, somatic 3 +614041 RB1 Retinoblastoma-1 ENSG00000139687 RB1 Autosomal dominant, Somatic mutation 180200 Retinoblastoma 3 +614041 RB1 Retinoblastoma-1 ENSG00000139687 RB1 Autosomal dominant, Somatic mutation 180200 Retinoblastoma, trilateral 3 +614041 RB1 Retinoblastoma-1 ENSG00000139687 RB1 182280 Small cell cancer of the lung, somatic 3 +609239 LPAR6 Lysophosphatidic acid receptor 6 ENSG00000139679 LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8 in intron 17 of RB gene Autosomal recessive 278150 Hypotrichosis 8 3 +609239 LPAR6 Lysophosphatidic acid receptor 6 ENSG00000139679 LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8 in intron 17 of RB gene Autosomal recessive 278150 Woolly hair, autosomal recessive 1, with or without hypotrichosis 3 +607796 PHF11 PHD finger protein 11 ENSG00000136147 PHF11, NYREN34 Autosomal dominant 600807 Asthma 3 +607796 PHF11 PHD finger protein 11 ENSG00000136147 PHF11, NYREN34 Autosomal dominant 147050 IgE levels QTL 3 +607867 RCBTB1 RCC! domain- and BTB domain-containing protein 1 ENSG00000136144 RCBTB1, CLLD7, GLP Multifactorial 103780 Alcohol dependence, susceptibility to 3 +607867 RCBTB1 RCC! domain- and BTB domain-containing protein 1 ENSG00000136144 RCBTB1, CLLD7, GLP Beta-glycopyranoside tasting 3 +612894 Stature quantitative trait locus 20 STQTL20 associated with rs3118914 612894 Stature QTL 20 2 +610326 RNASEH2B Ribonuclease H2, subunit B ENSG00000136104 RNASEH2B, DLEU8, FLJ11712, AGS2 Autosomal recessive 610181 Aicardi-Goutieres syndrome 2 3 +606882 ATP7B ATPase, Cu++ transporting, beta polypeptide ENSG00000123191 ATP7B, WND Autosomal recessive 277900 Wilson disease 3 +613666 ALG11 Alg11, S. cerevisiae, homolog of ENSG00000253710 ALG11, KIAA1266, CDG1P Autosomal recessive 613661 Congenital disorder of glycosylation, type Ip 3 +613289 ATXN8 Ataxin 8 ATXN8 CAG repeat results in polyglutamine expansion protein Autosomal dominant 608768 Spinocerebellar ataxia 8 3 +605365 BRCA3 Breast cancer, type 3 BRCA3, BRCAX 605365 ?Breast cancer, type 3 2 +602085 Postaxial polydactyly, type A2 PAPA2 Autosomal dominant 602085 Postaxial polydactyly, type A2 2 +607134 Specific language impairment QTL, 3 SLI3 max with D13S1317 607134 Specific language impairment QTL, 3 2 +614567 DIAPH3 Diaphanous, Drosophila, homolog of, 3 ENSG00000139734 DIAPH3, DIA2, DRF3, AUNA1, NSDAN Autosomal dominant 609129 Auditory neuropathy, autosomal dominant, 1 3 +603680 ATXN8OS Ataxin 8 opposite strand ATXN8OS, SCA8, KLHL1AS due to CTG repeat in untranslated DNA Autosomal dominant 608768 Spinocerebellar ataxia 8 3 +142700 Developmental dysplasia of the hip 1 DDH1 Multifactorial 142700 Developmental dysplasia of the hip 1 2 +167870 Panic disorder syndrome 1 PAND1 ?Autosomal dominant 167870 Panic disorder syndrome 1 2 +612465 TBC1D4 TPC1 domain family, member 4 ENSG00000136111 TBC1D4, AS160, KIAA0603, NIDDM5 616087 Diabetes mellitus, noninsulin-dependent, 5 3 +608102 CLN5 CLN5 gene ENSG00000102805 CLN5 Autosomal recessive 256731 Ceroid lipofuscinosis, neuronal, 5 3 +131244 EDNRB Endothelin receptor type B ENSG00000136160 EDNRB, HSCR2, ABCDS, WS4A ?piebald lethal in mouse Autosomal recessive 600501 ABCD syndrome 3 +131244 EDNRB Endothelin receptor type B ENSG00000136160 EDNRB, HSCR2, ABCDS, WS4A ?piebald lethal in mouse Autosomal recessive 600155 Hirschsprung disease, susceptibility to, 2 3 +131244 EDNRB Endothelin receptor type B ENSG00000136160 EDNRB, HSCR2, ABCDS, WS4A ?piebald lethal in mouse Autosomal recessive, Autosomal dominant 277580 Waardenburg syndrome, type 4A 3 +193003 NYS4 Nystagmus 4, congenital, autosomal dominant NYS4 Autosomal dominant 193003 Nystagmus 4, congenital, autosomal dominant 2 +602466 SPRY2 Sprouty, Drosophila, homolog of, 2 ENSG00000136158 SPRY2, IGAN3 mutation identified in 1 IGAN3 family Autosomal dominant 616818 ?IgA nephropathy, susceptibility to, 3 3 +609678 SLITRK1 SLIT- and NTRK-like family, member 1 ENSG00000178235 SLITRK1, KIAA1910, TTM mutation identified in 1 TTM patient Autosomal dominant 137580 Tourette syndrome 3 +609678 SLITRK1 SLIT- and NTRK-like family, member 1 ENSG00000178235 SLITRK1, KIAA1910, TTM mutation identified in 1 TTM patient Autosomal dominant, Multifactorial 613229 ?Trichotillomania 3 +609681 SLITRK6 SLIT- and NTRK-like family, member 6 ENSG00000184564 SLITRK6, DFNMYP Autosomal recessive 221200 Deafness and myopia 3 +610840 Mitral valve prolapse, myxomatous 3 MMVP3 max lod at D13S132 Autosomal dominant 610840 Mitral valve prolapse, myxomatous 3 2 +609572 Photoparoxysmal response 2 PPR2 max lod at D13S1230 609572 Photoparoxysmal response 2 2 +609415 MIR17HG Micro RNA 17 host gene ENSG00000215417 MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25, FGLDS2 Autosomal dominant 614326 Feingold syndrome 2 3 +604404 GPC6 Glypican 6 ENSG00000183098 GPC6, OMIMD1 Autosomal recessive 258315 Omodysplasia 1 3 +614629 Keratoconus 7 KTCN7 max lod at D13S159 Autosomal dominant 614629 Keratoconus 7 2 +156600 Microcoria, congential (chromosome 13q32 deletion syndrome) MCOR, C13DELq32, DEL13q32 35-80kb deletion encompassing TGDS and GPR180 Autosomal dominant 156600 Microcoria, congenital 4 +603176 SCZD7 Schizophrenia susceptibility locus, chromosome 13q-related SCZD7 Autosomal dominant 181500 Schizophrenia 2 +609903 Systemic lupus erythematosus, susceptibility to, 5 SLEB5 max lod at D13S892 609903 Systemic lupus erythematosus, susceptibility to, 5 2 +606258 Stature quantitative trait locus 4 STQTL4 max lod at D13S779 and D13S797 606258 Stature QTL 4 2 +616146 TGDS TDP-glucose 4,6-dehydratase ENSG00000088451 TGDS, SDR2E1, CATMANS Autosomal recessive 616145 Catel-Manzke syndrome 3 +601184 DNAJC3 DnaJ, E. coli, homolog of, subfamily C, member 3 (protein kinase inhibitor p58) ENSG00000102580 DNAJC3, PRKRI, P58, ACPHD mutation identified in 1 ACPHD family Autosomal recessive 616192 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 3 +603073 ZIC2 ZIC family member 2 ENSG00000043355 ZIC2, HPE5 Autosomal dominant 609637 Holoprosencephaly 5 3 +232000 PCCA Propionyl Coenzyme A carboxylase, alpha polypeptide ENSG00000175198 PCCA Autosomal recessive 606054 Propionicacidemia 3 +611549 NALCN Sodium leak channel, nonselective ENSG00000102452 NALCN, IHPRF1, CLIFAHDD Autosomal dominant 616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay 3 +611549 NALCN Sodium leak channel, nonselective ENSG00000102452 NALCN, IHPRF1, CLIFAHDD Autosomal recessive 615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 3 +610361 Orofacial cleft 9 OFC9 associated with rs1830756 610361 Orofacial cleft 9 2 +601515 FGF14 Fibroblast growth factor-14 ENSG00000102466 FGF14, FHF4, SCA27 Autosomal dominant 609307 Spinocerebellar ataxia 27 3 +133530 ERCC5 Excision-repair, complementing defective, in Chinese hamster, number 5 ENSG00000134899 ERCC5, XPG, COFS3 Autosomal recessive 616570 Cerebrooculofacioskeletal syndrome 3 3 +133530 ERCC5 Excision-repair, complementing defective, in Chinese hamster, number 5 ENSG00000134899 ERCC5, XPG, COFS3 Autosomal recessive 278780 Xeroderma pigmentosum, group G 3 +133530 ERCC5 Excision-repair, complementing defective, in Chinese hamster, number 5 ENSG00000134899 ERCC5, XPG, COFS3 Autosomal recessive 278780 Xeroderma pigmentosum, group G/Cockayne syndrome 3 +601295 SLC10A2 Solute carrier family 10 (sodium/bile acid cotransporter family), member 2 ENSG00000125255 SLC10A2, NTCP2, PBAM Autosomal recessive 613291 Bile acid malabsorption, primary 3 +614318 Vesicoureteral reflux 5 VUR5 nearest marker rs4476030 614318 Vesicoureteral reflux 5 2 +607408 DAOA D-amino acid oxidase activator ENSG00000182346 DAOA, G72 Autosomal dominant 181500 Schizophrenia 2 +601837 LIG4 Ligase IV, DNA, ATP-dependent ENSG00000174405 LIG4, LIG4S 606593 LIG4 syndrome 3 +601837 LIG4 Ligase IV, DNA, ATP-dependent ENSG00000174405 LIG4, LIG4S Somatic mutation 254500 Multiple myeloma, resistance to 3 +614211 DFNA33 Deafness, autosomal dominant 33 DFNA33 maximum lod at D13S285 Autosomal dominant 614211 Deafness, autosomal dominant 33 2 +600797 IRS2 Insulin receptor substrate 2 ENSG00000185950 IRS2 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +120130 COL4A1 Collagen IV, alpha-1 polypeptide ENSG00000187498 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR mutation identified in 1 RATOR family Autosomal dominant 611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 3 +120130 COL4A1 Collagen IV, alpha-1 polypeptide ENSG00000187498 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR mutation identified in 1 RATOR family Autosomal dominant 607595 Brain small vessel disease with or without ocular anomalies 3 +120130 COL4A1 Collagen IV, alpha-1 polypeptide ENSG00000187498 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR mutation identified in 1 RATOR family 614519 Hemorrhage, intracerebral, susceptibility to 3 +120130 COL4A1 Collagen IV, alpha-1 polypeptide ENSG00000187498 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR mutation identified in 1 RATOR family Autosomal dominant 175780 Porencephaly 1 3 +120130 COL4A1 Collagen IV, alpha-1 polypeptide ENSG00000187498 COL4A1, POREN1, HANAC, ICH, BSVD, RATOR mutation identified in 1 RATOR family Autosomal dominant 180000 ?Retinal arteries, tortuosity of 3 +120090 COL4A2 Collagen IV, alpha-2 polypeptide ENSG00000134871 COL4A2, POREN2, ICH 614519 Hemorrhage, intracerebral, susceptibility to 3 +120090 COL4A2 Collagen IV, alpha-2 polypeptide ENSG00000134871 COL4A2, POREN2, ICH Autosomal dominant 614483 Porencephaly 2 3 +612800 CARS2 Cysteinyl-tRNA synthetase 2 ENSG00000134905 CARS2, COXPD27 Autosomal recessive 616672 Combined oxidative phosphorylation deficiency 27 3 +601566 ING1 Inhibitor of growth 1 ENSG00000153487 ING1 275355 Squamous cell carcinoma, head and neck, somatic 3 +613878 F7 Coagulation factor VII ENSG00000057593 F7 Autosomal recessive 227500 Factor VII deficiency 3 +613878 F7 Coagulation factor VII ENSG00000057593 F7 608446 Myocardial infarction, decreased susceptibility to 3 +613872 F10 Coagulation factor X ENSG00000126218 F10 Autosomal recessive 227600 Factor X deficiency 3 +176895 PROZ Protein Z ENSG00000126231 PROZ, PZ 614024 Protein Z deficiency 3 +180381 GRK1 G protein-dependent receptor kinase 1 (rhodopsin kinase) GRK1, RHOK, RK 613411 Oguchi disease-2 3 +616327 CHAMP1 Chromosome alignment-maintaining phosphoprotein 1 ENSG00000198824 CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40 Autosomal dominant 616579 Mental retardation, autosomal dominant 40 3 +606771 Adiponectin, serum level of, quantitative trait locus 3 ADIPQTL3, CAQ14 between D14S608 and D14S599 606771 Adiponectin, serum level of, QTL3 2 +613457 Chromosome 14q11-q22 deletion syndrome DEL14q11q22, C14DELq11q22 contiguous gene syndrome Isolated cases 613457 Chromosome 14q11-q22 deletion syndrome 4 +606675 IBD4 Inflammatory bowel disease 4 IBD4 606675 Inflammatory bowel disease 4 2 +609965 DFNA53 Deafness, autosomal dominant 53 DFNA53 max lod at D14S1280 Autosomal dominant 609965 Deafness, autosomal dominant 53 2 +144110 Hyperhidrosis palmaris et plantaris HHPP between D14S283 and D14S264 Autosomal dominant 144110 Hyperhidrosis palmaris et plantaris 2 +611095 MRT9 Mental retardation, autosomal recessive, 9/26 MRT9, MRT26 between rs1998463 and rs243286 Autosomal recessive 611095 Mental retardation, autosomal recessive, 9/26 2 +612851 Narcolepsy 5 NRCLP5 associated with rs1154155, rs12587781, rs1263646 612851 Narcolepsy 5 2 +610420 Preauricular tag, isolated, autosomal dominant, 1 PAURT1 between D14S990 and D14S264 Autosomal dominant 610420 Preauricular tag, isolated, autosomal dominant, 1 2 +605463 Radiation sensitivity/chromosome instability syndrome, autosomal dominant RSCIS Radiation sensitivity/chromosome instability syndrome, autosomal dominant 1 +610234 Synpolydactyly 3 SPD3 max lod at D14S264 610234 Synpolydactyly 3 2 +164050 PNP Purine nucleoside phosphorylase ENSG00000198805 PNP, NP centromeric to TCRA Autosomal recessive 613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency 3 +105850 ANG Angiogenin ENSG00000214274 ANG, RNASE5, ALS9 proximal to TCRA/TCRD 611895 Amyotrophic lateral sclerosis 9 3 +605446 RPGRIP1 Retinitis pigmentosa GTPase regulator-interacting protein ENSG00000092200 RPGRIP1, LCA6, CORD13 608194 Cone-rod dystrophy 13 3 +605446 RPGRIP1 Retinitis pigmentosa GTPase regulator-interacting protein ENSG00000092200 RPGRIP1, LCA6, CORD13 613826 Leber congenital amaurosis 6 3 +610528 CHD8 Chromodomain helicase DNA-binding protein 8 ENSG00000100888 CHD8, DUPLIN, KIAA1564, AUTS18 Autosomal dominant 615032 Autism, susceptibility to, 18 3 +602219 SALL2 Sal-like 2 ENSG00000165821 SALL2, HSAL2, COLB mutation identified in 1 COLB family Autosomal recessive 216820 ?Coloboma, ocular, autosomal recessive 3 +186880 TRAC T-cell receptor alpha TRAC, TRCA, TRA, IMD7 cen--V-C--ter Autosomal recessive 615387 Immunodeficiency 7, TCR-alpha/beta deficient 3 +603593 SLC7A7 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 ENSG00000155465 SLC7A7, LPI Autosomal recessive 222700 Lysinuric protein intolerance 3 +600754 MMP14 Matrix metalloproteinase 14 (membrane-inserted) ENSG00000157227 MMP14, WNCHRS mutation identified in 1 family 277950 ?Winchester syndrome 3 +600749 CEBPE CCAAT/enhancer-binding protein (C/EBP), epsilon ENSG00000092067 CEBPE, CRP1 Autosomal recessive 245480 Specific granule deficiency 3 +602279 PABPN1 Poly(A)-binding protein, nuclear 1 ENSG00000100836 PABPN1, PABP2, PAB2 Autosomal dominant 164300 Oculopharyngeal muscular dystrophy 3 +160710 MYH6 Myosin, heavy polypeptide-6, cardiac muscle, alpha ENSG00000197616 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 614089 Atrial septal defect 3 3 +160710 MYH6 Myosin, heavy polypeptide-6, cardiac muscle, alpha ENSG00000197616 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 613252 Cardiomyopathy, dilated, 1EE 3 +160710 MYH6 Myosin, heavy polypeptide-6, cardiac muscle, alpha ENSG00000197616 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 613251 Cardiomyopathy, hypertrophic, 14 3 +160710 MYH6 Myosin, heavy polypeptide-6, cardiac muscle, alpha ENSG00000197616 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 614090 Sick sinus syndrome 3 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 613426 Cardiomyopathy, dilated, 1S 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 192600 Cardiomyopathy, hypertrophic, 1 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 160500 Laing distal myopathy 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 613426 Left ventricular noncompaction 5 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 608358 Myopathy, myosin storage, autosomal dominant 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal recessive 255160 Myopathy, myosin storage, autosomal recessive 3 +160760 MYH7 Myosin, heavy polypeptide-7, cardiac muscle, beta ENSG00000092054 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD 5'-B-4.5kb-A-3' Autosomal dominant 181430 Scapuloperoneal syndrome, myopathic type 3 +162080 NRL Neural retina leucine zipper ENSG00000129535 NRL, D14S46E, RP27 Retinal degeneration, autosomal recessive, clumped pigment type 3 +162080 NRL Neural retina leucine zipper ENSG00000129535 NRL, D14S46E, RP27 Autosomal dominant 613750 Retinitis pigmentosa 27 3 +614095 PCK2 Phosphoenolpyruvate carboxykinase 2, mitochondrial ENSG00000100889 PCK2, PEPCK2 Autosomal recessive 261650 PEPCK deficiency, mitochondrial 1 +602086 ARVD3 Arrhythmogenic right ventricular dysplasia 3 ARVD3 ?distinct from ARVD1 Autosomal dominant 602086 Arrhythmogenic right ventricular dysplasia 3 2 +600792 DFNB5 Deafness, autosomal recessive 5 DFNB5 Autosomal recessive 600792 Deafness, autosomal recessive 5 2 +611252 SPG32 Spastic paraplegia-32 SPG32 between D14S264 and D14S978 Autosomal recessive 611252 Spastic paraplegia 32, autosomal recessive 2 +604319 TINF2 TRF1-interacting nuclear factor 2 ENSG00000092330 TINF2, TIN2, DKCA3 Autosomal dominant 613990 Dyskeratosis congenita, autosomal dominant 3 3 +604319 TINF2 TRF1-interacting nuclear factor 2 ENSG00000092330 TINF2, TIN2, DKCA3 Autosomal dominant 268130 Revesz syndrome 3 +190195 TGM1 Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine gamma-glutamyltransferase) ENSG00000092295 TGM1, ICR2, ARCI1 Autosomal recessive 242300 Ichthyosis, congenital, autosomal recessive 1 3 +164874 FOXG1 Forkhead box G1B ENSG00000176165 FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1 Isolated cases 613454 Rett syndrome, congenital variant 3 +603196 COCH Cochlin ENSG00000100473 COCH, DFNA9 Autosomal dominant 601369 Deafness, autosomal dominant 9 3 +607243 AP4S1 Adaptor-related protein complex 4, sigma-1 subunit ENSG00000100478 AP4S1, CPSQ6, SPG52 Autosomal recessive 614067 Spastic paraplegia 52, autosomal recessive 3 +613621 NUBPL Nucleotide-binding protein-like protein ENSG00000151413 NUBPL, IND1 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +609408 Holoprosencephaly 8 HPE8 between D14S49 and D14S1014 609408 Holoprosencephaly 8 2 +608831 Restless legs syndrome, susceptibility to, 2 RLS2 max lod at D14S288 608831 Restless legs syndrome 2 2 +601443 CFL2 Cofilin 2, muscle ENSG00000165410 CFL2, NEM7 Autosomal recessive 610687 Nemaline myopathy 7, autosomal recessive 3 +602855 PSMA6 Proteasome subunit, alpha-type, 6 ENSG00000100902 PSMA6, PROS27, P27K 608446 Myocardial infarcation, susceptibility to 3 +164008 NFKBIA Nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha ENSG00000100906 NFKBIA, IKBA Autosomal dominant 612132 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 3 +600635 NKX2-1 NK2 homeobox 1 ENSG00000136352 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 Autosomal dominant 118700 Chorea, hereditary benign 3 +600635 NKX2-1 NK2 homeobox 1 ENSG00000136352 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 Autosomal dominant 610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 3 +600635 NKX2-1 NK2 homeobox 1 ENSG00000136352 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 Autosomal dominant 188550 Thyroid cancer, monmedullary, 1 3 +167416 PAX9 Paired box gene 9 ENSG00000198807 PAX9, STHAG3 Autosomal dominant 604625 Tooth agenesis, selective, 3 3 +610511 SEC23A Sec23, S. cerevisiae, homolog of, A ENSG00000100934 SEC23A, CLSD Autosomal recessive 607812 Craniolenticulosutural dysplasia 3 +607501 Migraine without aura, susceptibility to, 4 MGR4, MGOA between D14S976 and D14S978 Autosomal dominant 607501 Migraine without aura, susceptibility to, 4 2 +603633 RPS29 Ribosomal protein S29 ENSG00000213741 RPS29, DBA13 Autosomal dominant 615909 Diamond-Blackfan anemia 13 3 +602616 MGAT2 Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- transferase ENSG00000168282 MGAT2, CDGS2, CDG2A Autosomal recessive 212066 Congenital disorder of glycosylation, type IIa 3 +612517 DNAAF2 Kintoun, Medaka, homolog of ENSG00000165506 KTU, C14orf104, CILD10 612518 Ciliary dyskinesia, primary, 10 3 +601247 SOS2 Son of sevenless, Drosophila, homolog of, 2 ENSG00000100485 SOS2, NS9 Autosomal dominant 616559 Noonan syndrome 9 3 +609584 L2HGDH L-2-hydroxyglutarate dehydrogenase ENSG00000087299 L2HGDH, C14orf160, L2HGA Autosomal recessive 236792 L-2-hydroxyglutaric aciduria 3 +115650 CTAA1 Cataract 32, multiple types CTRCT32, CTAA1, CAP, CTPP5 between D14S980 and D14S1069 Autosomal dominant 115650 Cataract 32, multiple types 2 +609640 Frias syndrome FRIASS, DEL14q22, C14DELq22 deletion spans 4.1 Mb on 14q22.1-q22.3 Autosomal dominant 609640 Frias syndrome 4 +255500 MYP18 Myopia 18 MYP18 between D14S984 and D14S999 Autosomal recessive 255500 Myopia 18 2 +606439 ATL1 Atlastin GTPase 1 ENSG00000198513 ATL1, SPG3A, HSN1D Autosomal dominant 613708 Neuropathy, hereditary sensory, type ID 3 +606439 ATL1 Atlastin GTPase 1 ENSG00000198513 ATL1, SPG3A, HSN1D Autosomal dominant 182600 Spastic paraplegia 3A, autosomal dominant 3 +608684 NIN Ninein ENSG00000100503 NIN, KIAA1565, SCKL7 mutation identified in 1 SCKL7 family Autosomal recessive 614851 ?Seckel syndrome 7 3 +613741 PYGL Phosphorylase, glycogen, liver ENSG00000100504 PYGL Autosomal recessive 232700 Glycogen storage disease VI 3 +604687 PTGDR Prostaglandin D2 receptor ENSG00000168229 PTGDR, AS1, ASRT1 607277 Asthma, susceptibility to, 1 3 +176804 PTGER2 Prostaglandin E receptor 2, EP2 subtype, 53kD ENSG00000125384 PTGER2 Autosomal recessive 208550 Asthma, aspirin-induced, susceptibility to 3 +614603 DDHD1 DDHD domain-containing protein 1 ENSG00000100523 DDHD1, PAPLA1, KIAA1705, SPG28 Autosomal recessive 609340 Spastic paraplegia 28, autosomal recessive 3 +612589 Colorectal cancer, susceptibility to, 8 CRCS8 associated with rs4444235 612589 Colorectal cancer, susceptibility to, 8 2 +112262 BMP4 Bone morphogenetic protein-4 ENSG00000125378 BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 Autosomal dominant 607932 Microphthalmia, syndromic 6 3 +112262 BMP4 Bone morphogenetic protein-4 ENSG00000125378 BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 600625 Orofacial cleft 11 3 +600225 GCH1 GTP cyclohydrolase 1 ENSG00000131979 GCH1, DYT5, HPABH4B Autosomal recessive, Autosomal dominant 128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 3 +600225 GCH1 GTP cyclohydrolase 1 ENSG00000131979 GCH1, DYT5, HPABH4B Autosomal recessive 233910 Hyperphenylalaninemia, BH4-deficient, B 3 +600037 OTX2 Orthodenticle, Drosophila, homolog of, 2 ENSG00000165588 OTX2, MCOPS5, CPHD6 Autosomal dominant 610125 Microphthalmia, syndromic 5 3 +600037 OTX2 Orthodenticle, Drosophila, homolog of, 2 ENSG00000165588 OTX2, MCOPS5, CPHD6 Autosomal dominant 613986 Pituitary hormone deficiency, combined, 6 3 +600037 OTX2 Orthodenticle, Drosophila, homolog of, 2 ENSG00000165588 OTX2, MCOPS5, CPHD6 Autosomal dominant 610125 Retinal dystrophy, early-onset, with or without pituitary dysfunction 3 +612162 Aneurysm, intracranial berry, 8 ANIB8 associated with rs767603 612162 Aneurysm, intracranial berry, 8 2 +606972 Epilepsy, idiopathic generalized, susceptibility to, 2 EIG2 606972 Epilepsy, idiopathic generalized, susceptibility to, 2 2 +610178 KIAA0586 KIAA0586 gene ENSG00000100578 KIAA0586, TALPID3, JBTS23, SRTD14 Autosomal recessive 616490 Joubert syndrome 23 3 +610178 KIAA0586 KIAA0586 gene ENSG00000100578 KIAA0586, TALPID3, JBTS23, SRTD14 Autosomal recessive 616546 Short-rib thoracic dysplasia 14 with polydactyly 3 +606326 SIX6 Sine oculis homeo box, Drosophila, homolog of, 6 ENSG00000184302 SIX6, ODRMD Autosomal recessive 212550 Optic disc anomalies with retinal and/or macular dystrophy 3 +601205 SIX1 Sine oculis homeo box, Drosophila, homolog of, 1 ENSG00000126778 SIX1, BOS3, DFNA23 Autosomal dominant 608389 Branchiootic syndrome 3 3 +601205 SIX1 Sine oculis homeo box, Drosophila, homolog of, 1 ENSG00000126778 SIX1, BOS3, DFNA23 Autosomal dominant 605192 Deafness, autosomal dominant 23 3 +611023 TRMT5 tRNA methyltransferase 5, S. cerevisiae, homolog of ENSG00000126814 TRMT5, TRM5, KIAA1393, COXPD26 Autosomal recessive 616539 Combined oxidative phosphorylation deficiency 26 3 +605437 PRKCH Protein kinase C, eta ENSG00000027075 PRKCH, PKCL, PRKCL Multifactorial 601367 Cerebral infarction, susceptibility to 3 +609113 Telomere length, mean leukocyte TELM suggestive QTL on 12, 10q, 3p 609113 Telomere length, mean leukocyte 2 +608442 SYNE2 Spectrin repeat-containing nuclear envelope protein 2 (nesprin 2) ENSG00000054654 SYNE2, NUANCE, KIAA1011, EDMD5 Autosomal dominant 612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 3 +172460 MTHFD1 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase ENSG00000100714 MTHFD, MTHFC trifunctional protein Abruptio placentae, susceptibility to 3 +172460 MTHFD1 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase ENSG00000100714 MTHFD, MTHFC trifunctional protein Autosomal recessive 601634 Spina bifida, folate-sensitive, susceptibility to 3 +182870 SPTB Spectrin, beta, erythrocytic ENSG00000070182 SPTB, SPH2, EL3, HS2 Anemia, neonatal hemolytic, fatal and near-fatal 3 +182870 SPTB Spectrin, beta, erythrocytic ENSG00000070182 SPTB, SPH2, EL3, HS2 Elliptocytosis-3 3 +182870 SPTB Spectrin, beta, erythrocytic ENSG00000070182 SPTB, SPH2, EL3, HS2 Autosomal dominant 616649 Spherocytosis, type 2 3 +154950 MAX MAX protein ENSG00000125952 MAX interacts with MYC Autosomal dominant 171300 Pheochromocytoma, susceptibility to 3 +603930 GPHN Gephyrin ENSG00000171723 GPHN, GPH, KIAA1385, GEPH, MOCODC 615501 Molybdenum cofactor deficiency C 3 +607849 RDH11 Retinol dehydrogenase 11 ENSG00000072042 RDH11, PSDR1, RALR1, RDJCSS mutation identified in 1 RDJCSS family Autosomal recessive 616108 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome 3 +608830 RDH12 Retinol dehydrogenase 12 ENSG00000139988 RDH12, LCA13 near RDH11 Autosomal recessive 612712 Leber congenital amaurosis 13 3 +612012 ZFYVE26 Zinc finger FYVE domain-containing protein 26 ENSG00000072121 ZFYVE26, KIAA0321, SPG15 Autosomal recessive 270700 Spastic paraplegia 15, autosomal recessive 3 +102575 ACTN1 Actinin, alpha-1 ENSG00000072110 ACTN1, BDPLT15 Autosomal dominant 615193 Bleeding disorder, platelet-type, 15 3 +608488 SMOC1 SPARC-related modular calcium-binding 1 ENSG00000198732 SMOC1, OAS Autosomal recessive 206920 Microphthalmia with limb anomalies 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 613737 Acne inversa, familial, 3 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 607822 Alzheimer disease, type 3 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 613694 Cardiomyopathy, dilated, 1U 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant 600274 Dementia, frontotemporal 3 +104311 PSEN1 Presenilin 1 ENSG00000080815 PSEN1, AD3 Autosomal dominant, Isolated cases 172700 Pick disease 3 +613085 GLC3C Glaucoma 3, primary congenital, C GLC3C between D14S61 and D14S1000 613085 Glaucoma 3, primary congenital, C 2 +601208 IDDM11 Insulin-dependent diabetes mellitus-11 IDDM11 601208 Diabetes mellitus, insulin-dependent, 11 2 +614628 Keratoconus 8 KTCN8 between rs1074501 and rs755212 Autosomal dominant 614628 Keratoconus 8 2 +612083 Muscle strength quantitative trait locus 1 MUSTQTL1 612083 Muscle strength quantitative trait locus 1 2 +610062 DNAL1 Dynein, axonemal, light chain 1 ENSG00000119661 DNAL1, C14orf168, CILD16 Autosomal recessive 614017 Ciliary dyskinesia, primary, 16 3 +614647 COQ6 Coq6, S. cerevisiae, homolog of ENSG00000119723 COQ6, CGI10, COQ10D6 Autosomal recessive 614650 Coenzyme Q10 deficiency, primary, 6 3 +603178 ALDH6A1 Aldehyde dehydrogenase 6 family, member A1 (methylmalonate semialdehyde dehydrogenase) ENSG00000119711 ALDH6A1, MMSDH Autosomal recessive 614105 Methylmalonate semialdehyde dehydrogenase deficiency 3 +142993 VSX2 C. elegans ceh-10 homeo domain-containing homolog ENSG00000119614 CHX10, HOX10, MCOP2, MCOPCB3 610092 Microphthalmia with coloboma 3 3 +142993 VSX2 C. elegans ceh-10 homeo domain-containing homolog ENSG00000119614 CHX10, HOX10, MCOP2, MCOPCB3 610093 Microphthalmia, isolated 2 3 +603214 ABCD4 ATP-binding cassette, subfamily D, member 4 (peroxisomal membrane protein 1-like) ENSG00000119688 ABCD4, PXMP1L, P79R, PMP69, MAHCJ Autosomal recessive 614857 Methylmalonic aciduria and homocystinuria, cblJ type 3 +601015 NPC2 Epididymal secretory protein HE1 ENSG00000119655 NPC2, HE1 Autosomal recessive 607625 Niemann-pick disease, type C2 3 +615317 ISCA2 Iron-sulfur cluster assembly 2, S. cerevisiae, homolog of ENSG00000165898 ISCA2, MMDS4 Autosomal recessive 616370 Multiple mitochondrial dysfunctions syndrome 4 3 +602091 LTBP2 Latent transforming growth factor beta binding protein-2 ENSG00000119681 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 613086 Glaucoma 3, primary congenital, D 3 +602091 LTBP2 Latent transforming growth factor beta binding protein-2 ENSG00000119681 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 Autosomal recessive 251750 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 3 +602091 LTBP2 Latent transforming growth factor beta binding protein-2 ENSG00000119681 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 Autosomal recessive 614819 Weill-Marchesani syndrome 3, recessive 3 +606454 EIF2B2 Eukaryotic translation initiation factor 2B, subunit 2 ENSG00000119718 EIF2B2 Autosomal recessive 603896 Leukoencephalopathy with vanishing white matter 3 +606454 EIF2B2 Eukaryotic translation initiation factor 2B, subunit 2 ENSG00000119718 EIF2B2 Autosomal recessive 603896 Ovarioleukodystrophy 3 +604395 MLH3 Mismatch repair gene MLH3 ENSG00000119684 MLH3, HNPCC7 614385 Colorectal cancer, hereditary nonpolyposis, type 7 3 +604395 MLH3 Mismatch repair gene MLH3 ENSG00000119684 MLH3, HNPCC7 114500 Colorectal cancer, somatic 3 +604395 MLH3 Mismatch repair gene MLH3 ENSG00000119684 MLH3, HNPCC7 608089 Endometrial cancer, susceptibility to 3 +609798 NEK9 Never in mitosis gene A-related kinase 9 ENSG00000119638 NEK9, NERCC1, LCCS10, APUG, NC mutation identified in 1 APUG family Autosomal recessive 614262 ?Arthrogryposis, Perthes disease, and upward gaze palsy 3 +609798 NEK9 Never in mitosis gene A-related kinase 9 ENSG00000119638 NEK9, NERCC1, LCCS10, APUG, NC mutation identified in 1 APUG family Autosomal recessive 617022 Lethal congenital contracture syndrome 10 3 +609798 NEK9 Never in mitosis gene A-related kinase 9 ENSG00000119638 NEK9, NERCC1, LCCS10, APUG, NC mutation identified in 1 APUG family 617025 Nevus comedonicus, somatic 3 +610865 FLVCR2 Feline leukemia virus subgroup C receptor 2 ENSG00000119686 FLVCR2, C14orf58, CCT, PVHH, EPV Autosomal recessive 225790 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 3 +612268 TTLL5 Tubulin tyrosine ligase-like family, member 5 ENSG00000119685 TTLL5, STAMP, KIAA0998, CORD19 Autosomal recessive 615860 Cone-rod dystrophy 19 3 +190230 TGFB3 Transforming growth factor, beta-3 ENSG00000119699 TGFB3, ARVD1, RNHF, LDS5 Autosomal dominant 107970 Arrhythmogenic right ventricular dysplasia 1 3 +190230 TGFB3 Transforming growth factor, beta-3 ENSG00000119699 TGFB3, ARVD1, RNHF, LDS5 Autosomal dominant 615582 Loeys-Dietz syndrome 5 3 +614068 IFT43 Intraflagellar transport 43, Chlamydomonas, homolog of ENSG00000119650 IFT43, C14orf179, CED3 Autosomal recessive 614099 Cranioectodermal dysplasia 3 3 +602167 ESRRB Estrogen-related receptor beta ENSG00000119715 ESRRB, ESRL2, DFNB35 Autosomal recessive 608565 Deafness, autosomal recessive 35 3 +607439 POMT2 Putative protein O-mannosyltransferase 2 ENSG00000009830 POMT2, MDDGA2, MDDGB2, MDDGC2 Autosomal recessive 613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 3 +607439 POMT2 Putative protein O-mannosyltransferase 2 ENSG00000009830 POMT2, MDDGA2, MDDGB2, MDDGC2 Autosomal recessive 613156 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 3 +607439 POMT2 Putative protein O-mannosyltransferase 2 ENSG00000009830 POMT2, MDDGA2, MDDGB2, MDDGC2 Autosomal recessive 613158 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 3 +603758 GSTZ1 Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase) ENSG00000100577 GSTZ1, MAAI Tyrosinemia, type Ib 1 +613401 VIPAS39 VPS33B-interacting protein, apical-basolateral polarity regulator, spe-39 homolog ENSG00000151445 VIPAS39, VIPAR, SPE39, C14orf133 Autosomal recessive 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 3 +605713 SPTLC2 Serine palmitoyltransferase, long-chain base subunit 2 ENSG00000100596 SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C Autosomal dominant 613640 Neuropathy, hereditary sensory and autonomic, type IC 3 +275000 Graves disease, susceptibility to, 1 GRD1 associated with rs2268458 Autosomal recessive 275000 Graves disease, susceptibility to, 1 2 +614187 Hypertelorism, preauricular sinus, punctal pits, and deafness HPPD Autosomal dominant 614187 Hypertelorism, preauricular sinus, punctal pits, and deafness 2 +603372 TSHR Thyroid-stimulating hormone receptor ENSG00000165409 TSHR, CHNG1 603373 Hyperthyroidism, familial gestational 3 +603372 TSHR Thyroid-stimulating hormone receptor ENSG00000165409 TSHR, CHNG1 Autosomal dominant, Isolated cases 609152 Hyperthyroidism, nonautoimmune 3 +603372 TSHR Thyroid-stimulating hormone receptor ENSG00000165409 TSHR, CHNG1 Autosomal recessive 275200 Hypothyroidism, congenital, nongoitrous, 1 3 +603372 TSHR Thyroid-stimulating hormone receptor ENSG00000165409 TSHR, CHNG1 Thyroid adenoma, hyperfunctioning, somatic 3 +603372 TSHR Thyroid-stimulating hormone receptor ENSG00000165409 TSHR, CHNG1 Thyroid carcinoma with thyrotoxicosis 3 +606890 GALC Galactosylceraminidase ENSG00000054983 GALC Autosomal recessive 245200 Krabbe disease 3 +609868 SPATA7 Spermatogenesis-associated protein 7 ENSG00000042317 SPATA7, HSD3, LCA3 604232 Leber congenital amaurosis 3 3 +609868 SPATA7 Spermatogenesis-associated protein 7 ENSG00000042317 SPATA7, HSD3, LCA3 604232 Retinitis pigmentosa, juvenile, autosomal recessive 3 +613279 ZC3H14 Zinc finger CCCH domain-containing protein 14 ENSG00000100722 ZC3H14, SUT2, MRT56 Autosomal recessive 617125 Mental retardation, autosomal recessive 56 3 +608132 TTC8 Tetratricopeptide repeat domain 8 ENSG00000165533 TTC8, BBS8, RP51 mutation identified in 1 RP51 family Autosomal recessive 615985 Bardet-Biedl syndrome 8 3 +608132 TTC8 Tetratricopeptide repeat domain 8 ENSG00000165533 TTC8, BBS8, RP51 mutation identified in 1 RP51 family Autosomal recessive 613464 ?Retinitis pigmentosa 51 3 +608318 Coronary heart disease, susceptibility to, 4 CHDS4 highest LOD with D14S1426 608318 Coronary heart disease, susceptibility to, 4 2 +123270 CKBE Creatine kinase, ectopic expression CKBE linked to IGH, PI; ?same locus as CKBB 123270 Creatine kinase, brain type, ectopic expression of 2 +616604 Chromosome 14q32 duplication syndrome, 700kB DUP14q32, C14DUPq32 heterozygous germline duplication of 700kb Autosomal dominant 616604 Myeloproliferative neoplasms, familial, susceptibility to 4 +608875 Gene expression, variation in, quantitative trait locus on chromosome 14 GEVQ1 608875 Gene expression, variation in, QTL 2 +164210 Hemifacial microsomia HFM Autosomal dominant 164210 Hemifacial microsomia 2 +608149 Kagami-Ogata syndrome KAOGS uniparental isodisomy of imprinted region of chromosome 14 Isolated cases 608149 Kagami-Ogata syndrome 4 +251600 Microphthalmia, isolated 1 MCOP1 Autosomal recessive 251600 Microphthalmia, isolated 1 2 +616222 Temple syndrome (maternal uniparental disomy chromosome 14) TEMPS Isolated cases 616222 Temple syndrome 4 +607198 TDP1 Tyrosyl-DNA phosphodiesterase 1 ENSG00000042088 TDP1 607250 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy 3 +114180 CALM1 Calmodulin-1 (phosphorylase kinase, delta) ENSG00000198668 CALM1, PHKD, CPVT4, LQT14 Autosomal dominant 616247 Long QT syndrome 14 3 +114180 CALM1 Calmodulin-1 (phosphorylase kinase, delta) ENSG00000198668 CALM1, PHKD, CPVT4, LQT14 Autosomal dominant 614916 Ventricular tachycardia, catecholaminergic polymorphic, 4 3 +611204 CCDC88C Coiled-coil domain-containing protein 88C ENSG00000015133 CCDC88C, HKRP2, DAPLE, KIAA1509, HYC, SCA40 mutation identified in 1 SCA40 family Autosomal recessive 236600 Hydrocephalus, nonsyndromic, autosomal recessive 3 +611204 CCDC88C Coiled-coil domain-containing protein 88C ENSG00000015133 CCDC88C, HKRP2, DAPLE, KIAA1509, HYC, SCA40 mutation identified in 1 SCA40 family Autosomal dominant 616053 ?Spinocerebellar ataxia 40 3 +604580 FBLN5 Fibulin 5 ENSG00000140092 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD 614434 Cutis laxa, autosomal dominant 2 3 +604580 FBLN5 Fibulin 5 ENSG00000140092 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD Autosomal recessive 219100 Cutis laxa, autosomal recessive, type IA 3 +604580 FBLN5 Fibulin 5 ENSG00000140092 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD Autosomal dominant 608895 Macular degeneration, age-related, 3 3 +604580 FBLN5 Fibulin 5 ENSG00000140092 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD Autosomal dominant 608895 Neuropathy, hereditary, with or without age-related macular degeneration 3 +604505 TRIP11 Thyroid hormone receptor interactor 11 ENSG00000100815 TRIP11, TRIP230, CEV14, ACG1A Autosomal recessive 200600 Achondrogenesis, type IA 3 +607047 ATXN3 Ataxin-3 (josephin) ENSG00000066427 ATXN3, MJD, SCA3 Autosomal dominant 109150 Machado-Joseph disease 3 +609840 SLC24A4 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ENSG00000140090 SLC24A4, NCKX4, SHEP6, AI2A5 Autosomal recessive 615887 Amelogenesis imperfecta, type IIA5 3 +609840 SLC24A4 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ENSG00000140090 SLC24A4, NCKX4, SHEP6, AI2A5 Autosomal recessive 210750 Skin/hair/eye pigmentation 6, blond/brown hair 3 +609840 SLC24A4 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ENSG00000140090 SLC24A4, NCKX4, SHEP6, AI2A5 Autosomal recessive 210750 Skin/hair/eye pigmentation 6, blue/green eyes 3 +614339 Mental retardation, autosomal recessive 32 MRT32 between rs763357 and rs1956859 614339 Mental retardation, autosomal recessive 32 2 +122500 SERPINA6 Corticosteroid-binding globulin ENSG00000170099 CBG, SERPINA6 Autosomal recessive, Autosomal dominant 611489 Corticosteroid-binding globulin deficiency 3 +107400 SERPINA1 Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) ENSG00000197249 SERPINA1, PI, AAT Autosomal recessive 613490 Emphysema due to AAT deficiency 3 +107400 SERPINA1 Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) ENSG00000197249 SERPINA1, PI, AAT Autosomal recessive 613490 Emphysema-cirrhosis, due to AAT deficiency 3 +107400 SERPINA1 Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) ENSG00000197249 SERPINA1, PI, AAT Autosomal recessive 613490 Hemorrhagic diathesis due to \\'antithrombin\\' Pittsburgh 3 +107400 SERPINA1 Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) ENSG00000197249 SERPINA1, PI, AAT 606963 Pulmonary disease, chronic obstructive, susceptibility to 1 +107280 SERPINA3 Alpha-1-antichymotrypsin ENSG00000273259 SERPINA3, AACT, ACT 220kb from PI Alpha-1-antichymotrypsin deficiency 3 +107280 SERPINA3 Alpha-1-antichymotrypsin ENSG00000273259 SERPINA3, AACT, ACT 220kb from PI Cerebrovascular disease, occlusive 3 +138890 GSC Goosecoid ENSG00000133937 GSC, SAMS Autosomal recessive 602471 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 3 +606241 DICER1 Dicer, Drosophila, homolog of, 1 ENSG00000100697 DICER1, HERNA, KIAA0928, MNG1, RMSE2 Autosomal dominant 138800 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 3 +606241 DICER1 Dicer, Drosophila, homolog of, 1 ENSG00000100697 DICER1, HERNA, KIAA0928, MNG1, RMSE2 Autosomal dominant 601200 Pleuropulmonary blastoma 3 +606241 DICER1 Dicer, Drosophila, homolog of, 1 ENSG00000100697 DICER1, HERNA, KIAA0928, MNG1, RMSE2 180295 Rhabdomyosarcoma, embryonal, 2 3 +609588 GLRX5 Glutaredoxin 5 ENSG00000182512 GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC Autosomal recessive 616860 Anemia, sideroblastic, 3, pyridoxine-refractory 3 +609588 GLRX5 Glutaredoxin 5 ENSG00000182512 GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC Autosomal recessive 616859 Spasticity, childhood-onset, with hyperglycinemia 3 +603769 TCL1B T-cell lymphoma/leukemia 1B ENSG00000213231 TCL1B, TML1 603769 Leukemia/lymphoma, T-cell 2 +186960 TCL1A T-cell lymphoma/leukemia 1A ENSG00000100721 TCL1A, TCL1 186960 Leukemia/lymphoma, T-cell 2 +602168 VRK1 Vaccinia-related kinase-1 ENSG00000100749 VRK1, PCH1A Autosomal recessive 607596 Pontocerebellar hypoplasia type 1A 3 +602033 EML1 Echinoderm microtubule associated protein like 1 ENSG00000066629 EML1, EMAPL, EMAP, BH Autosomal recessive 600348 Band heterotopia 3 +600112 DYNC1H1 Dynein, cytoplasmic-1, heavy chain-1 ENSG00000197102 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 Autosomal dominant 614228 Charcot-Marie-Tooth disease, axonal, type 20 3 +600112 DYNC1H1 Dynein, cytoplasmic-1, heavy chain-1 ENSG00000197102 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 Autosomal dominant 614563 Mental retardation, autosomal dominant 13 3 +600112 DYNC1H1 Dynein, cytoplasmic-1, heavy chain-1 ENSG00000197102 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 Autosomal dominant 158600 Spinal muscular atrophy, lower extremity-predominant 1, AD 3 +615000 TECPR2 Tectonin beta-propeller repeat-containing protein 2 ENSG00000196663 TECPR2, KIAA0329, SPG49 Autosomal recessive 615031 Spastic paraplegia 49, autosomal recessive 3 +601896 TRAF3 TNF receptor-associated factor 3 ENSG00000131323 TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5 mutation identified in 1 IIAE5 patient 614849 ?Herpes simplex encephalitis, susceptibility to, 3 3 +605799 AMN Amnionless, mouse, homolog of ENSG00000166126 AMN Autosomal recessive 261100 Megaloblastic anemia-1, Norwegian type 3 +144120 Immunoglobulin heavy chain regulator IGHR Autosomal dominant 144120 ?Hyperimmunoglobulin G1 syndrome 2 +616003 APOPT1 Apoptogenic protein 1, mitochondrial ENSG00000256053 APOPT1, APOP Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +600675 XRCC3 X-ray-repair, complementing defective, repair in Chinese hamster cells-3 ENSG00000126215 XRCC3, CMM6 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +600675 XRCC3 X-ray-repair, complementing defective, repair in Chinese hamster cells-3 ENSG00000126215 XRCC3, CMM6 613972 Melanoma, cutaneous malignant, 6 3 +610982 INF2 Inverted formin 2 ENSG00000203485 INF2, FSGS5, C14orf173, CMTDIE Autosomal dominant 614455 Charcot-Marie-Tooth disease, dominant intermediate E 3 +610982 INF2 Inverted formin 2 ENSG00000203485 INF2, FSGS5, C14orf173, CMTDIE 613237 Glomerulosclerosis, focal segmental, 5 3 +612498 ADSSL1 Adenylosuccinate synthase-like 1 ENSG00000185100 ADSL1, MPD5 Autosomal recessive 617030 Myopathy, distal, 5 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH 114480 Breast cancer, somatic 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH 114500 Colorectal cancer, somatic 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH 615109 Cowden syndrome 6 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH 167000 Ovarian cancer, somatic 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH 176920 Proteus syndrome, somatic 3 +164730 AKT1 Murine thymoma viral (v-akt) oncogene homolog-1 ENSG00000142208 AKT1, CWS6 proximal to IGH Autosomal dominant 181500 Schizophrenia, susceptibility to 2 +613915 ZBTB42 Zinc finger- and BTB domain-containing protein 42 ENSG00000179627 ZBTB42, ZNF925, LCCS6 mutation identified in 1 LCCS6 family Autosomal recessive 616248 ?Lethal congenital contracture syndrome 6 3 +604902 BRF1 BRF1, S. cerevisiae, homolog of (TATA box-binding protein-associated factor 3C) ENSG00000185024 BRF1, TAF3C, GTF3B, TF3B90, CFDS Autosomal recessive 616202 Cerebellofaciodental syndrome 3 +147110 IGHG2 Constant region of heavy chain of IgG2 IGHG2 5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein IgG2 deficiency, selective 3 +147020 IGHM Constant region of heavy chain of IgM IGHM, MU, AGM1 Autosomal recessive 601495 Agammaglobulinemia 1 3 +608251 Phobia, specific PHOBS 608251 Phobia, specific 2 +616606 Ring chromosome 14 syndrome RC14S Isolated cases 616606 Ring chromosome 14 syndrome 4 +608636 Autism, susceptibility to, 4 AUTS4 Autosomal dominant 608636 Autism susceptibility 4 2 +607202 Celiac disease, susceptibility to, 5 CELIAC5, GSES in homogeneous Finnish population 607202 Celiac disease, susceptibility to, 5 2 +609745 GLC1I Glaucoma 1, open angle, I GLC1I max lod at GABRB3 609745 Glaucoma 1, open angle, I 2 +604329 Hypertension, essential, susceptibility to, 2 HYT2 Multifactorial 145500 Hypertension, essential, susceptibility to, 2 2 +214900 LCS1 Cholestasis-lymphedema syndrome LCS1, CHLS Autosomal recessive 214900 Cholestasis-lymphedema syndrome 2 +613328 Roifman-Chitayat syndrome RCHTS ?1p36.23-p33 Autosomal recessive 613328 ?Roifman-Chitayat syndrome 2 +615656 Chromosome 15q11.2 deletion syndrome DEL15q11.2, C15DELq11.2 deleted region spans 300-500kb beteen BP1 and BP2 Autosomal dominant 615656 Chromosome 15q11.2 deletion syndrome 4 +609179 Migraine with aura, susceptibility to, 7 MGR7 between D15S113 and D15S1019 609179 Migraine with aura, susceptibility to, 7 2 +608145 NIPA1 Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region 1 ENSG00000170113 NIPA1, SPG6 Autosomal dominant 600363 Spastic paraplegia 6, autosomal dominant 3 +603856 MKRN3 Makorin 3 ENSG00000179455 MKRN3, ZFP127, ZNF127, CPPB2 expressed only from paternal allele Autosomal dominant 615346 Precocious puberty, central, 2 3 +605283 MAGEL2 MAGE-like 2 ENSG00000254585 MAGEL2, NDNL1, SHFYNG Autosomal dominant 615547 Schaaf-Yang syndrome 3 +602117 NDN Necdin ENSG00000182636 NDN Isolated cases 176270 Prader-Willi syndrome 3 +182279 SNRPN Small nuclear ribonucleoprotein polypeptide N ENSG00000128739 SNRPN Isolated cases 176270 Prader-Willi syndrome 3 +601623 UBE3A Ubiquitin protein ligase E3A ENSG00000114062 UBE3A, ANCR same location as PWS Isolated cases 105830 Angelman syndrome 3 +610321 Prostate cancer, hereditary, 7 HPC7 610321 Prostate cancer, hereditary, 7 2 +605738 Microphthalmia, isolated, with coloboma 2 MCOPCB2 605738 Microphthalmia with coloboma 2 2 +137192 GABRB3 Gamma-aminobutyric acid (GABA) A receptor, beta-3 ENSG00000166206 GABRB3, ECA5, EIEE43 612269 Epilepsy, childhood absence, susceptibility to, 5 3 +137192 GABRB3 Gamma-aminobutyric acid (GABA) A receptor, beta-3 ENSG00000166206 GABRB3, ECA5, EIEE43 Autosomal dominant 617113 Epileptic encephalopathy, early infantile, 43 3 +611409 OCA2 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) ENSG00000277361 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 ?hypopigmentation in PWS and AS Autosomal recessive 203200 Albinism, brown oculocutaneous 3 +611409 OCA2 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) ENSG00000277361 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 ?hypopigmentation in PWS and AS Autosomal recessive 203200 Albinism, oculocutaneous, type II 3 +611409 OCA2 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) ENSG00000277361 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 ?hypopigmentation in PWS and AS Autosomal recessive 227220 Skin/hair/eye pigmentation 1, blond/brown hair 3 +611409 OCA2 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) ENSG00000277361 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 ?hypopigmentation in PWS and AS Autosomal recessive 227220 Skin/hair/eye pigmentation 1, blue/nonblue eyes 3 +608646 Ciliary dyskinesia, primary, 4 CILD4 between D15S1012 and D15S1048 608646 Ciliary dyskinesia, primary, 4 2 +613025 Schizophrenia 13 SCZD13 associated with deletion at 15q13.3 613025 Schizophrenia, susceptibility to, 13 2 +208500 ATD Short-rib thoracic dysplasia 1 with or without polydactyly SRTD1, ATD1 Autosomal recessive 208500 Short-rib thoracic dysplasia 1 with or without polydactyly 2 +605837 HERC2 HECT domain and RCC1-like domain 2 ENSG00000276802 HERC2, SHEP1, MRT38 mutations in intron 4 Autosomal recessive 615516 Mental retardation, autosomal recessive 38 3 +605837 HERC2 HECT domain and RCC1-like domain 2 ENSG00000276802 HERC2, SHEP1, MRT38 mutations in intron 4 Autosomal recessive 227220 Skin/hair/eye pigmentation 1, blond/brown hair 3 +605837 HERC2 HECT domain and RCC1-like domain 2 ENSG00000276802 HERC2, SHEP1, MRT38 mutations in intron 4 Autosomal recessive 227220 Skin/hair/eye pigmentation 1, blue/nonblue eyes 3 +612001 Chromosome 15q13.3 microdeletion syndrome DEL15q13.3, MICRODEL15q13.3 612001 Chromosome 15q13.3 microdeletion syndrome 4 +613534 FAN1 FANCD2/FANCI-associated nuclease 1 ENSG00000198690 FAN1, MTMR15, KIAA1018, KMIN Autosomal recessive 614817 Interstitial nephritis, karyomegalic 3 +603576 TRPM1 Transient receptor potential cation channel, subfamily M, member 1 (melastatin) ENSG00000134160 TRPM1, MLSN1, CSNB1C 613216 Night blindness, congenital stationary (complete), 1C, autosomal recessive 3 +118511 CHRNA7 Cholinergic receptor, nicotinic, alpha polypeptide-7 ENSG00000175344 CHRNA7 118511 Schizophrenia, neurophysiologic defect in 2 +616898 Chromosome 15q14 deletion syndrome DEL15q14, C15DELq14 Autosomal dominant 616898 Chromosome 15q14 deletion syndrome 4 +604827 EJM2 Epilepsy, idiopathic generalized, susceptibility to, 7 EIG7, EJM2 ?role of CHRNA7 Autosomal recessive 604827 Epilepsy, idiopathic generalized, susceptibility to, 7 2 +604827 EJM2 Epilepsy, idiopathic generalized, susceptibility to, 7 EIG7, EJM2 ?role of CHRNA7 Autosomal recessive 604827 Epilepsy, juvenile myoclonic 2 +604878 SLC12A6 Solute carrier family 12 (potassium/chloride transporters), member 6 ENSG00000140199 SLC12A6, KCC3A, KCC3B, KCC3, ACCPN Autosomal recessive 218000 Agenesis of the corpus callosum with peripheral neuropathy 3 +606471 NOP10 Nucleolar protein family A, member 3 ENSG00000182117 NOLA3, NOP10, DKCB1 Autosomal recessive 224230 Dyskeratosis congenita, autosomal recessive 1 3 +102540 ACTC1 Actin, alpha, cardiac muscle ENSG00000159251 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Autosomal dominant 612794 Atrial septal defect 5 3 +102540 ACTC1 Actin, alpha, cardiac muscle ENSG00000159251 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Autosomal dominant 613424 Cardiomyopathy, dilated, 1R 3 +102540 ACTC1 Actin, alpha, cardiac muscle ENSG00000159251 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Autosomal dominant 612098 Cardiomyopathy, hypertrophic, 11 3 +102540 ACTC1 Actin, alpha, cardiac muscle ENSG00000159251 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Autosomal dominant 613424 Left ventricular noncompaction 4 3 +615626 C15orf41 Chromosome 15 open reading fram 41 ENSG00000186073 C15orf41 Autosomal recessive 615631 Dyserythropoietic anemia, congenital, type Ib 3 +609291 SPRED1 Sprouty-related EVH1 domain-containing protein 1 ENSG00000166068 SPRED1, NFLS Autosomal dominant 611431 Legius syndrome 3 +605419 SCZD10 Schizophrenia 10 SCZD10 between D15S1042 and D15S659 Autosomal dominant 605419 Schizophrenia 10 2 +609280 EIF2AK4 Eukaryotic translation initiation factor 2-alpha kinase 4 ENSG00000128829 EIF2AK4, GCN2, KIAA1338, PVOD2 Autosomal recessive 234810 Pulmonary venoocclusive disease 2 3 +602860 BUB1B Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, beta ENSG00000156970 BUB1B, BUBR1, MVA1 114500 Colorectal cancer, somatic 3 +602860 BUB1B Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, beta ENSG00000156970 BUB1B, BUBR1, MVA1 Autosomal recessive 257300 Mosaic variegated aneuploidy syndrome 1 3 +602860 BUB1B Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, beta ENSG00000156970 BUB1B, BUBR1, MVA1 Autosomal dominant 176430 Premature chromatid separation trait 3 +604114 PLCB2 Phospholipase C, beta-2 ENSG00000137841 PLCB2 Platelet PLC beta-2 deficiency 1 +607036 IVD Isovaleryl Coenzyme A dehydrogenase ENSG00000128928 IVD Autosomal recessive 243500 Isovaleric acidemia 3 +608429 CHST14 Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 ENSG00000169105 CHST14, D4ST1, ATCS, EDSMC1 Autosomal recessive 601776 Ehlers-Danlos syndrome, musculocontractural type 1 3 +609173 KNL1 Cancer susceptibility candidate 5 ENSG00000137812 CASC5, AF15Q14, KIAA1570, D40, MCPH4 Autosomal recessive 604321 Microcephaly 4, primary, autosomal recessive 3 +179617 RAD51 RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog) ENSG00000051180 RAD51A, RECA, MRMV2 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +179617 RAD51 RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog) ENSG00000051180 RAD51A, RECA, MRMV2 Autosomal dominant 614508 Mirror movements 2 3 +605185 DLL4 Delta-like 4 ENSG00000128917 DLL4, AOS6 Autosomal dominant 616589 Adams-Oliver syndrome 6 3 +606934 NDUFAF1 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1 ENSG00000137806 NDUFAF1, CIA30, CGI65 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +114240 CAPN3 Calpain, large polypeptide L3 ENSG00000092529 CAPN3, CANP3 Autosomal recessive 253600 Muscular dystrophy, limb-girdle, type 2A 3 +607465 CDAN1 Codanin 1 ENSG00000140326 CDAN1, CDA1, CDAN1A Autosomal recessive 224120 Dyserythropoietic anemia, congenital, type Ia 3 +611695 TTBK2 Tau tubulin kinase 2 ENSG00000128881 TTBK2, SCA11 Autosomal dominant 604432 Spinocerebellar ataxia 11 3 +605981 UBR1 Ubiquitin-protein ligase E3-alpha ENSG00000159459 UBR1, JBS Autosomal recessive 243800 Johanson-Blizzard syndrome 3 +177070 EPB42 Erythrocyte surface protein band 4.2 ENSG00000166947 EPB42, SPH5 612690 Spherocytosis, type 5 3 +603805 TGM5 Transglutaminase 5 ENSG00000104055 TGM5, TGX, PSS2 Autosomal recessive 609796 Peeling skin syndrome 2 3 +611102 Chromosome 15q15.3 deletion syndrome DEL15q15.3, C15DELq15.3 Autosomal recessive 611102 Deafness and male infertility 4 +134600 Fanconi renotubular syndrome FRTS1, FRTS, RFS Autosomal dominant 134600 Fanconi renotubular syndrome 1 2 +601228 Polyposis syndrome, mixed, hereditary 1 HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq duplication of 40kb of 15q resulting in overexpression of GREM1 Autosomal dominant 601228 Colorectal cancer, susceptibility to, 4 4 +601228 Polyposis syndrome, mixed, hereditary 1 HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq duplication of 40kb of 15q resulting in overexpression of GREM1 Autosomal dominant 601228 Polyposis syndrome, mixed hereditary 1 4 +609610 TUBGCP4 Tubulin-gamma complex-associated protein 4 ENSG00000137822 TUBGCP4, GCP4, MCCRP3 Autosomal recessive 616335 Microcephaly and chorioretinopathy, autosomal recessive, 3 3 +606440 STRC Stereocilin ENSG00000242866 STRC, DFNB16 Autosomal recessive 603720 Deafness, autosomal recessive 16 3 +105600 CDAN3 Congenital dyserythropoietic anemia, type III CDAN3, CDA3 Autosomal dominant 105600 Dyserythropoietic anemia, congenital, type III 2 +605728 Cataract 25 CTRCT25, CCSSO 605728 Cataract 25 2 +610844 SPG11 Spastascin ENSG00000104133 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X Autosomal recessive 602099 Amyotrophic lateral sclerosis 5, juvenile 3 +610844 SPG11 Spastascin ENSG00000104133 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X Autosomal recessive 616668 Charcot-Marie-Tooth disease, axonal, type 2X 3 +610844 SPG11 Spastascin ENSG00000104133 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X Autosomal recessive 604360 Spastic paraplegia 11, autosomal recessive 3 +109700 B2M Beta-2-microglobulin ENSG00000273686 B2M, IMD43 mutation identified in 1 FVA family Autosomal dominant 105200 ?Amyloidosis, familial visceral 3 +109700 B2M Beta-2-microglobulin ENSG00000273686 B2M, IMD43 mutation identified in 1 FVA family Autosomal recessive 241600 Immunodeficiency 43 3 +182500 SORD Sorbitol dehydrogenase ENSG00000140263 SORD, SORD1 182500 ?Cataract, congenital 2 +606759 DUOX2 Dual oxidase 2 (thyroid oxidase 2) ENSG00000140279 DUOX2, THOX2, TDH6 Autosomal recessive 607200 Thryoid dyshormonogenesis 6 3 +612772 DUOXA2 Dual oxidase maturation factor 2 ENSG00000140274 DUOXA2, TDH5 head-to-head with DUOX2 Autosomal recessive 274900 Thyroid dyshormonogenesis 5 3 +602360 GATM L-arginine:glycine amidinotransferase ENSG00000171766 GATM, AGAT, CCDS3 Autosomal recessive 612718 Cerebral creatine deficiency syndrome 3 3 +604310 BLOC1S6 Biogenesis of lysosome-related organelles complex 1, subunit 6 ENSG00000104164 BLOC1S6, BLOS6, PLDN, PA, HPS9 Autosomal recessive 614171 Hermansky-pudlak syndrome 9 3 +609802 SLC24A5 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 ENSG00000188467 SLC24A5, NCKX5, SHEP4, OCA6 Autosomal recessive 113750 Albinism, oculocutaneous, type VI 3 +609802 SLC24A5 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 ENSG00000188467 SLC24A5, NCKX5, SHEP4, OCA6 Autosomal recessive 113750 Skin/hair/eye pigmentation 4, fair/dark skin 3 +600839 SLC12A1 Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 ENSG00000074803 SLC12A1, NKCC2 Autosomal recessive 601678 Bartter syndrome, type 1 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 102370 Acromicric dysplasia 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Aortic aneurysm, ascending, and dissection 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 129600 Ectopia lentis, familial 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 614185 Geleophysic dysplasia 2 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS 604308 MASS syndrome 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 616914 Marfan lipodystrophy syndrome 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 154700 Marfan syndrome 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 184900 Stiff skin syndrome 3 +134797 FBN1 Fibrillin-1 ENSG00000166147 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Autosomal dominant 608328 Weill-Marchesani syndrome 2, dominant 3 +613529 CEP152 Centrosomal protein, 152kD ENSG00000103995 CEP152, KIAA0912, MCPH9, SCKL5 Autosomal recessive 614852 Microcephaly 9, primary, autosomal recessive 3 +613529 CEP152 Centrosomal protein, 152kD ENSG00000103995 CEP152, KIAA0912, MCPH9, SCKL5 Autosomal recessive 613823 Seckel syndrome 5 3 +142704 HDC Histidine decarboxylase ENSG00000140287 HDC Autosomal dominant 137580 Gilles de la Tourette syndrome, susceptibility to 3 +605692 TRPM7 Transcient receptor potential cation channel, subfamily M, member 7 ENSG00000092439 TRPM7, LTRPC7, CHAK, ALSPDC Autosomal dominant 105500 Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to 3 +607244 AP4E1 Adaptor-related protein complex 4, epsilon-1 subunit ENSG00000081014 AP4E1, SPG51, CPSQ4, STUT1 Autosomal recessive 613744 Spastic paraplegia 51, autosomal recessive 3 +607244 AP4E1 Adaptor-related protein complex 4, epsilon-1 subunit ENSG00000081014 AP4E1, SPG51, CPSQ4, STUT1 Autosomal dominant 184450 Stuttering, familial persistent, 1 3 +107910 CYP19A1 Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens) ENSG00000137869 CYP19A1, CYP19, ARO close to CYP11 in mouse 613546 Aromatase deficiency 3 +107910 CYP19A1 Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens) ENSG00000137869 CYP19A1, CYP19, ARO close to CYP11 in mouse Autosomal dominant 139300 Aromatase excess syndrome 3 +612186 DMXL2 DMX-like 2 ENSG00000104093 DMXL2, RC3, KIAA0856, PEPNS mutation identified in 1 PEPNS family Autosomal recessive 616113 ?Polyendocrine-polyneuropathy syndrome 3 +160777 MYO5A Myosin Va ENSG00000197535 MYO5A, MYH12, GS1 Autosomal recessive 214450 Griscelli syndrome, type 1 3 +613214 WDR72 WD repeat-containing protein 72 ENSG00000166415 WDR72, AI2A3 Autosomal recessive 613211 Amelogenesis imperfecta, type IIA3 3 +603868 RAB27A Ras-associated protein RAB27A ENSG00000069974 RAB27A, RAM, GS2 Autosomal recessive 607624 Griscelli syndrome, type 2 3 +608706 DYX1C1 Dyslexia susceptibility 1 candidate 1 ENSG00000256061 DYX1C1, DYXC1, DYX1, CILD25 not confirmed by some studies Autosomal recessive 615482 Ciliary dyskinesia, primary, 25 3 +608706 DYX1C1 Dyslexia susceptibility 1 candidate 1 ENSG00000256061 DYX1C1, DYXC1, DYX1, CILD25 not confirmed by some studies Autosomal dominant 127700 Dyslexia, susceptibility to, 1 3 +600480 TCF12 Transcription factor-12 (HTF4, helix-loop-helix transcription factors-4) ENSG00000140262 TCF12, HTF4, CRS3 Autosomal dominant 615314 Craniosynostosis 3 3 +151670 LIPC Lipase, hepatic ENSG00000166035 LIPC, HL, LIPH, HDLCQ12 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +151670 LIPC Lipase, hepatic ENSG00000166035 LIPC, HL, LIPH, HDLCQ12 Autosomal recessive 614025 Hepatic lipase deficiency 3 +151670 LIPC Lipase, hepatic ENSG00000166035 LIPC, HL, LIPH, HDLCQ12 612797 High density lipoprotein cholesterol level QTL 12 3 +602192 ADAM10 A disintegrin and metalloprotease domain 10 ENSG00000137845 ADAM10, MADM, RAK, AD18 615590 Alzheimer disease 18, susceptibility to 3 +602192 ADAM10 A disintegrin and metalloprotease domain 10 ENSG00000137845 ADAM10, MADM, RAK, AD18 Autosomal dominant 615537 Reticulate acropigmentation of Kitamura 3 +611274 GLC1N Glaucoma 1, open angle, N GLC1N max lod at D15S125 611274 Glaucoma 1, open angle, N 2 +612632 USH1H Usher syndrome, type 1H USH1H max lod at D15S980 612632 Usher syndrome, type 1H 2 +601479 MYO1E Myosin IE ENSG00000157483 MYO1E, MYO1C, FSGS6 Autosomal recessive 614131 Glomerulosclerosis, focal segmental, 6 3 +608879 VPS13C Vacuolar protein sorting 13, yeast, homolog of, C ENSG00000129003 VPS13C, KIAA1421, PARK23 Autosomal recessive 616840 Parkinson disease 23, autosomal recessive, early onset 3 +191010 TPM1 Tropomyosin 1, alpha ENSG00000140416 TPM1, CMH3, CMD1Y , LVNC9 Autosomal dominant 611878 Cardiomyopathy, dilated, 1Y 3 +191010 TPM1 Tropomyosin 1, alpha ENSG00000140416 TPM1, CMH3, CMD1Y , LVNC9 Autosomal dominant 115196 Cardiomyopathy, hypertrophic, 3 3 +191010 TPM1 Tropomyosin 1, alpha ENSG00000140416 TPM1, CMH3, CMD1Y , LVNC9 Autosomal dominant 611878 Left ventricular noncompaction 9 3 +603263 CA12 Carbonic anhydrase XII ENSG00000074410 CA12 Autosomal recessive 143860 Hyperchlorhidrosis, isolated 3 +605109 HERC1 HECT domain and RCC1-like domain 1 ENSG00000103657 HERC1, MDFPMR Autosomal recessive 617011 Macrocephaly, dysmorphic facies, and psychomotor retardation 3 +123841 PPIB Peptidyl-prolyl isomerase B ENSG00000166794 PPIB, CYPB, OI9 Autosomal recessive 259440 Osteogenesis imperfecta, type IX 3 +604501 TRIP4 Thyroid hormone receptor interactor 4 ENSG00000103671 TRIP4, ASC1, SMABF1, MDCDC mutation identified in 1 MDCDC family Autosomal recessive 617066 ?Muscular dystrophy, congenital, Davignon-Chauveau type 3 +604501 TRIP4 Thyroid hormone receptor interactor 4 ENSG00000103671 TRIP4, ASC1, SMABF1, MDCDC mutation identified in 1 MDCDC family Autosomal recessive 616866 Spinal muscular atrophy with congenital bone fractures 1 3 +608181 SPG21 Acidic cluster protein, 33kD, (maspardin) ENSG00000090487 ACP33, MAST, SPG21 Autosomal recessive 248900 Mast syndrome 3 +611766 MTFMT Mitochondrial methionyl-tRNA formyltransferase ENSG00000103707 MTFMT, COXPD15 Autosomal recessive 614947 Combined oxidative phosphorylation deficiency 15 3 +613727 KBTBD13 Kelch repeat and BTB/POZ domains-containing protein 13 ENSG00000234438 KBTBD13, NEM6 Autosomal dominant 609273 Nemaline myopathy 6, autosomal dominant 3 +603489 CILP Cartilage intermediate layer protein ENSG00000138615 CILP 603932 Lumbar disc disease, susceptibility to 3 +603617 SLC24A1 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ENSG00000074621 SLC24A1, NCKX1, CSNB1D Autosomal recessive 613830 Night blindness, congenital stationary (complete), 1D, autosomal recessive 3 +176872 MAP2K1 Mitogen-activated protein kinase kinase 1 ENSG00000169032 MAP2K1, PRKMK1, MKK1, MEK1, CFC3 pseudogene on 8p21 615279 Cardiofaciocutaneous syndrome 3 3 +602931 SMAD6 Mothers against decapentaplegic, Drosophila, homolog of, 6 ENSG00000137834 SMAD6, MADH6, AOVD2 Autosomal dominant 614823 Aortic valve disease 2 3 +612579 Stature quantitative trait locus 16 STQTL16 associated with rs8038652 612579 Stature QTL 16 2 +603109 SMAD3 Mothers against decapentaplegic, Drosophila, homolog of, 3 ENSG00000166949 SMAD3, MADH3, LDS3 Autosomal dominant 613795 Loeys-Dietz syndrome 3 3 +607248 Glioma susceptibility 4 GLM4 max lod at D15S130 607248 Glioma susceptibility 4 2 +614888 AAGAB Alpha- and gamma-adaptin-binding protein ENSG00000103591 AAGAB, p34, PPKP1A, PPKP1, KPPP1 Autosomal dominant 148600 Keratoderma, palmoplantar, punctate type IA 3 +606725 CLN6 CLN6 gene ENSG00000128973 CLN6, CLN4A Autosomal recessive 601780 Ceroid lipofuscinosis, neuronal, 6 3 +606725 CLN6 CLN6 gene ENSG00000128973 CLN6, CLN4A Autosomal recessive 204300 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 3 +604485 NR2E3 Nuclear receptor subfamily 2, group E, member 3 ENSG00000278570 NR2E3, PNR, ESCS, RP37 near BBS4 Autosomal recessive 268100 Enhanced S-cone syndrome 3 +604485 NR2E3 Nuclear receptor subfamily 2, group E, member 3 ENSG00000278570 NR2E3, PNR, ESCS, RP37 near BBS4 Autosomal recessive, Autosomal dominant 611131 Retinitis pigmentosa 37 3 +606869 HEXA Hexosaminidase A, alpha polypeptide ENSG00000213614 HEXA, TSD on 15q+ in APL Autosomal recessive 272800 GM2-gangliosidosis, several forms 3 +606869 HEXA Hexosaminidase A, alpha polypeptide ENSG00000213614 HEXA, TSD on 15q+ in APL Autosomal recessive 272800 Hex A pseudodeficiency 3 +606869 HEXA Hexosaminidase A, alpha polypeptide ENSG00000213614 HEXA, TSD on 15q+ in APL Autosomal recessive 272800 Tay-Sachs disease 3 +612274 Ciliary dyskinesia, primary, 8 CILD8 max lod at D15S154 612274 Ciliary dyskinesia, primary, 8 2 +603204 Epilepsy, nocturnal frontal lobe, type 2 ENFL2 some ENFL not on 20q or 15q Autosomal dominant 603204 Epilepsy, nocturnal frontal lobe, type 2 2 +602685 Mental retardation, severe, with spasticity and tapetoretinal degeneration MRST 602685 Mental retardation, severe, with spasticity and tapetoretinal degeneration 2 +600374 BBS4 BBS4 gene ENSG00000140463 BBS4 Autosomal recessive 615982 Bardet-Biedl syndrome 4 3 +605206 HCN4 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 ENSG00000138622 HCN4, SSS2 613123 Brugada syndrome 8 3 +605206 HCN4 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 ENSG00000138622 HCN4, SSS2 Autosomal dominant 163800 Sick sinus syndrome 2 3 +153456 LOXL1 Lysyl oxidase-like 1 ENSG00000129038 LOXL1, LOXL Autosomal dominant 177650 Exfoliation syndrome, susceptibility to 3 +102578 PML Promyelocytic leukemia, inducer of ENSG00000140464 PML, MYL fused with RARA in APL Leukemia, acute promyelocytic, PML/RARA type 3 +610745 STRA6 Stimulated by retinoic acid 6, mouse, homolog of ENSG00000137868 STRA6, MCOPS9, MCOPCB8 Autosomal recessive 601186 Microphthalmia, isolated, with coloboma 8 3 +610745 STRA6 Stimulated by retinoic acid 6, mouse, homolog of ENSG00000137868 STRA6, MCOPS9, MCOPCB8 Autosomal recessive 601186 Microphthalmia, syndromic 9 3 +118485 CYP11A1 Cytochrome P450, subfamily XIA, polypeptide 1 (cholesterol side chain cleavage enzyme) ENSG00000140459 CYP11A1, P450SCC 613743 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 3 +607961 SEMA7A Semaphorin 7A ENSG00000138623 SEMA7A, SEMAL, SEMAK1, CDW108, JMH 614745 Blood group, John-Milton-Hagen system 3 +609842 EDC3 Enhancer of mRNA decapping 3, S. cerevisiae, homolog of ENSG00000179151 EDC3, YJDC, MRT50 mutation identified in 1 MRT50 family Autosomal recessive 616460 ?Mental retardation, autosomal recessive 50 3 +154550 MPI Mannosephosphate isomerase (phosphomannose isomerase 1) ENSG00000178802 MPI, PMI1, CDG1B Autosomal recessive 602579 Congenital disorder of glycosylation, type Ib 3 +607776 SIN3A Sin3, yeast, homolog of, A ENSG00000169375 SIN3A, WITKOS Autosomal dominant 613406 Witteveen-Kolk syndrome 3 +608053 ETFA Electron transfer flavoprotein, alpha polypeptide ENSG00000140374 ETFA, GA2, MADD Autosomal recessive 231680 Glutaric acidemia IIA 3 +606347 PSTPIP1 Proline-serine-threonine phosphatase-interacting protein 1 ENSG00000140368 PSTPIP1, PSTPIP, CD2BP1, PAPAS Autosomal dominant 604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 3 +614294 Chromosome 15q25 deletion syndrome DEL15q25, C15DELq25 chr15:82,889,423-83,552,890, NCBI36 Autosomal dominant 614294 Chromosome 15q25 deletion syndrome 4 +606451 DFNA30 Deafness, autosomal dominant 30 DFNA30 Autosomal dominant 606451 Deafness, autosomal dominant 30 2 +607728 Porokeratosis 4, disseminated superficial actinic POROK4, DSAP2 between D15S1023 and D15S1030 607728 Porokeratosis 4, disseminated superficial actinic 2 +605564 CIB2 Calcium- and integrin-binding protein 2 ENSG00000136425 CIB2, KIP2 Autosomal recessive 609439 Deafness, autosomal recessive 48 3 +605564 CIB2 Calcium- and integrin-binding protein 2 ENSG00000136425 CIB2, KIP2 Autosomal recessive 614869 Usher syndrome, type IJ 3 +118505 CHRNA5 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 ENSG00000169684 CHRNA5, LNCR2 612052 Lung cancer susceptibility 2 3 +118505 CHRNA5 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 ENSG00000169684 CHRNA5, LNCR2 612052 Nicotine dependence, susceptibility to 3 +118503 CHRNA3 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 ENSG00000080644 CHRNA3, LNCR2, PAOD2 612052 Lung cancer susceptibility 2 3 +613146 MIR184 Micro RNA 184 ENSG00000207695 MIR184, MIRN184, KTCNCT, EDICT Autosomal dominant 614303 EDICT syndrome 3 +613871 FAH Fumarylacetoacetase ENSG00000103876 FAH Autosomal recessive 276700 Tyrosinemia, type I 3 +606036 ARNT2 Aryl hydrocarbon receptor nuclear translocator 2 ENSG00000172379 ARNT2, WEDAS mutation identified in 1 WEDAS family Autosomal recessive 615926 ?Webb-Dattani syndrome 3 +180472 RPS17 Ribosomal protein S17 ENSG00000278229 RPS17, RPS17L1, RPS17L2, DBA4 previously on chr.11; pseudogenes on 5q33-qter and 17q 612527 Diamond-Blackfan anemia 4 3 +604799 HOMER2 Homer, homolog 2 (Drosophila) ENSG00000103942 HOMER2, HOMER2B, HOMER2A, DFNA68 mutation identified in 1 DFNA68 family Autosomal dominant 616707 ?Deafness, autosomal dominant 68 3 +616144 WDR73 WD repeat-containing protein 73 ENSG00000177082 WDR73, HSPC264, GAMOS Autosomal recessive 251300 Galloway-Mowat syndrome 3 +609893 Hypothyroidism, congenital, nongoitrous, 3 CHNG3, RTSH max lod at D15S655 609893 Hypothyroidism, congenital, nongoitrous, 3 2 +608691 Major depressive disorder 2 MDD2 608516 Major depressive disorder 2 2 +615496 AGBL1 ATP/GTP-binding protein-like 1 ENSG00000273540 AGBL1, CCP4, FECD8 Autosomal dominant 615523 Corneal dystrophy, Fuchs endothelial, 8 3 +612626 Chromosome 15q26-qter deletion syndrome DEL15q26qter, C15DELq26qter contiguous gene deletion syndrome Isolated cases 612626 Chromosome 15q26-qter deletion syndrome 4 +142340 DIH1 Hernia, congenital diaphragmatic 1 DIH1, HCD Multifactorial 142340 Hernia, congenital diaphragmatic 1 2 +600318 IDDM3 Insulin-dependent diabetes mellitus-3 IDDM3 600318 Diabetes mellitus, insulin-dependent, 3 2 +614846 Levy-Shanske syndrome (tetrasomy 15q26) LVSKS 614846 Levy-Shanske syndrome 4 +166800 OTSC1 Otosclerosis 1 OTSC1, OTS Autosomal dominant 166800 Otosclerosis 1 2 +609289 Syncope, familial vasovagal VVS Autosomal dominant 609289 Syncope, familial vasovagal 2 +155760 ACAN Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) ENSG00000157766 ACAN, AGC1, CSPG1, MSK16, SEDK Autosomal dominant 165800 Osteochondritis dissecans, short stature, and early-onset osteoarthritis 3 +155760 ACAN Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) ENSG00000157766 ACAN, AGC1, CSPG1, MSK16, SEDK 612813 Spondyloepimetaphyseal dysplasia, aggrecan type 3 +155760 ACAN Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) ENSG00000157766 ACAN, AGC1, CSPG1, MSK16, SEDK Autosomal dominant 608361 Spondyloepiphyseal dysplasia, Kimberley type 3 +180090 RLBP1 Retinaldehyde-binding protein-1, cellular ENSG00000140522 RLBP1 Autosomal recessive 607475 Bothnia retinal dystrophy 3 +180090 RLBP1 Retinaldehyde-binding protein-1, cellular ENSG00000140522 RLBP1 Autosomal recessive, Autosomal dominant 136880 Fundus albipunctatus 3 +180090 RLBP1 Retinaldehyde-binding protein-1, cellular ENSG00000140522 RLBP1 607476 Newfoundland rod-cone dystrophy 3 +180090 RLBP1 Retinaldehyde-binding protein-1, cellular ENSG00000140522 RLBP1 Autosomal recessive, Autosomal dominant 136880 Retinitis punctata albescens 3 +611360 FANCI FANCI gene ENSG00000140525 FANCI, KIAA1794 609053 Fanconi anemia, complementation group I 3 +174763 POLG Polymerase (DNA directed), gamma ENSG00000140521 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS PEO also digenic with C10orf2 Autosomal recessive 203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) 3 +174763 POLG Polymerase (DNA directed), gamma ENSG00000140521 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS PEO also digenic with C10orf2 Autosomal recessive 613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 3 +174763 POLG Polymerase (DNA directed), gamma ENSG00000140521 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS PEO also digenic with C10orf2 Autosomal recessive 607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 3 +174763 POLG Polymerase (DNA directed), gamma ENSG00000140521 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS PEO also digenic with C10orf2 Autosomal dominant 157640 Progressive external ophthalmoplegia, autosomal dominant 1 3 +174763 POLG Polymerase (DNA directed), gamma ENSG00000140521 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS PEO also digenic with C10orf2 Autosomal recessive 258450 Progressive external ophthalmoplegia, autosomal recessive 1 3 +611254 KIF7 Kinesin family member 7 ENSG00000166813 KIF7, HLS2, ACLS, JBTS12, AGBK mutation identified in 1 HLS2 family and 1 AGBK family Autosomal recessive 200990 Acrocallosal syndrome 3 +611254 KIF7 Kinesin family member 7 ENSG00000166813 KIF7, HLS2, ACLS, JBTS12, AGBK mutation identified in 1 HLS2 family and 1 AGBK family Autosomal recessive 607131 ?Al-Gazali-Bakalinova syndrome 3 +611254 KIF7 Kinesin family member 7 ENSG00000166813 KIF7, HLS2, ACLS, JBTS12, AGBK mutation identified in 1 HLS2 family and 1 AGBK family Autosomal recessive 614120 ?Hydrolethalus syndrome 2 3 +611254 KIF7 Kinesin family member 7 ENSG00000166813 KIF7, HLS2, ACLS, JBTS12, AGBK mutation identified in 1 HLS2 family and 1 AGBK family Autosomal recessive 200990 Joubert syndrome 12 3 +170290 PLIN1 Perilipin 1 ENSG00000166819 PLIN1, PLIN, FPLD4 Autosomal dominant 613877 Lipodystrophy, familial partial, type 4 3 +605195 MESP2 Mesoderm posterior bHLH transcription factor 2 ENSG00000188095 MESP2, SCDO2 608681 Spondylocostal dysostosis 2, autosomal recessive 3 +147650 IDH2 Isocitrate dehydrogenase, mitochondrial ENSG00000182054 IDH2, IDPM, D2HGA2 613657 D-2-hydroxyglutaric aciduria 2 3 +604610 BLM DNA helicase, RecQ-like 3 ENSG00000197299 RECQL3, RECQ2, BLM, BS Autosomal recessive 210900 Bloom syndrome 3 +608552 VPS33B Vacuolar protein sorting 33, yeast, homolog of, B ENSG00000184056 VPS33B Autosomal recessive 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 3 +602119 CHD2 Chromodomain helicase DNA binding protein-2 ENSG00000173575 CHD2, EEOC Autosomal dominant 615369 Epileptic encephalopathy, childhood-onset 3 +107773 NR2F2 Nuclear receptor subfamily 2, group F, member 2 (transcription factor COUP 2) ENSG00000185551 NR2F2, TFCOUP2, ARP1, CHTD4 Autosomal dominant 615779 Congenital heart defects, multiple types, 4 3 +147370 IGF1R Insulin-like growth factor-1 receptor ENSG00000140443 IGF1R Autosomal recessive, Autosomal dominant 270450 Insulin-like growth factor I, resistance to 3 +600660 MEF2A MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A) ENSG00000068305 MEF2A, ADCAD1 Autosomal dominant 608320 Coronary artery disease, autosomal dominant, 1 3 +607511 ADAMTS17 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17 ENSG00000140470 ADAMTS17 Autosomal recessive 613195 Weill-Marchesani-like syndrome 3 +615276 CERS3 Ceramide synthase 3 ENSG00000154227 CERS3, LASS3, ARCI9 Autosomal recessive 615023 Ichthyosis, congenital, autosomal recessive 9 3 +610350 LINS1 Lines, Drosophila, homolog of, 1 ENSG00000140471 LINS1, WINS1, FLJ10583, MRT27 Autosomal recessive 614340 Mental retardation, autosomal recessive 27 3 +600463 ALDH1A3 Aldehyde dehydrogenase 1 family, member A3 ENSG00000184254 ALDH1A3, ALDH6, MCOP8 Autosomal recessive 615113 Microphthalmia, isolated 8 3 +608183 CHSY1 Carbohydrate synthase 1 ENSG00000131873 CHSY1, KIAA0990, TPBS Autosomal recessive 605282 Temtamy preaxial brachydactyly syndrome 3 +608903 Attention deficit-hyperactivity disorder, susceptibility to, 1 ADHD1 max lod at D16S3114 Autosomal dominant 143465 Attention deficit-hyperactivity disorder 2 +608558 BMIQ5 Body mass index quantitative trait locus 5 BMIQ5 near D16S404 and D16S764 608558 Body mass index QTL5 2 +607339 Coronary heart disease, susceptibility to, 1 CHDS1 607339 Coronary heart disease, susceptibility to 2 +610543 Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome) DEL16p13.3, RSTSS contiguous gene deletion syndrome 610543 Chromosome 16p13.3 deletion syndrome 4 +613458 Chromosome 16p13.3 duplication syndrome DUP16p13.3, C16DUPq13.3 contiguous gene duplication syndrome Autosomal dominant, Isolated cases 613458 Chromosome 16p13.3 duplication syndrome 4 +141750 Alpha-thalassemia/mental retardation syndrome, type 1 HBHR, ATR1 contiguous gene syndrome involving deletion of HBA1 and HBA2 Autosomal dominant 141750 Alpha-thalassemia/mental retardation syndrome, type 1 4 +606668 IBD8 Inflammatory bowel disease 8 IBD8 606668 Inflammatory bowel disease 8 2 +610260 Pyloric stenosis, infantile hypertrophic, 2 IHPS2 610260 Pyloric stenosis, infantile hypertrophic, 2 2 +156850 Microphthalmia with cataract 1 MCOPCT1 proximal to HBA1 Autosomal dominant 156850 Microphthalmia with cataract 1 2 +600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis PKDTS contiguous gene syndrome caused by deletion of TSC2 and PKD1 Autosomal dominant 600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis 4 +600928 NPRL3 Nitrogen permease regulator-like 3 ENSG00000103148 NPRL3, CGTHBA, FFEVF3 Autosomal dominant 617118 Epilepsy, familial focal, with variable foci 3 3 +141850 HBA2 Hemoglobin alpha-2 ENSG00000188536 HBA2, HBH Erythrocytosis 3 +141850 HBA2 Hemoglobin alpha-2 ENSG00000188536 HBA2, HBH Autosomal dominant 140700 Heinz body anemia 3 +141850 HBA2 Hemoglobin alpha-2 ENSG00000188536 HBA2, HBH 613978 Hemoglobin H disease, nondeletional 3 +141850 HBA2 Hemoglobin alpha-2 ENSG00000188536 HBA2, HBH Hypochromic microcytic anemia 3 +141850 HBA2 Hemoglobin alpha-2 ENSG00000188536 HBA2, HBH 604131 Thalassemia, alpha- 3 +141800 HBA1 Hemoglobin alpha-1 ENSG00000206172 HBA1, HBH 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Erythremias, alpha- 3 +141800 HBA1 Hemoglobin alpha-1 ENSG00000206172 HBA1, HBH 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Autosomal dominant 140700 Heinz body anemias, alpha- 3 +141800 HBA1 Hemoglobin alpha-1 ENSG00000206172 HBA1, HBH 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' 613978 Hemoglobin H disease, nondeletional 3 +141800 HBA1 Hemoglobin alpha-1 ENSG00000206172 HBA1, HBH 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Methemoglobinemias, alpha- 3 +141800 HBA1 Hemoglobin alpha-1 ENSG00000206172 HBA1, HBH 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' 604131 Thalassemias, alpha- 3 +603816 AXIN1 Axis inhibitor 1 ENSG00000103126 AXIN1, AXIN hypermethylation of AXIN1 promoter seen in 1 CDUP patient 607864 ?Caudal duplication anomaly 3 +603816 AXIN1 Axis inhibitor 1 ENSG00000103126 AXIN1, AXIN hypermethylation of AXIN1 promoter seen in 1 CDUP patient 114550 Hepatocellular carcinoma, somatic 3 +607207 STUB1 STIP1 homologous and U box-containing protein 1 ENSG00000103266 STUB1, CHIP, SCAR16 Autosomal recessive 615768 Spinocerebellar ataxia, autosomal recessive 16 3 +614666 CCDC78 Coiled-coil domain-containing protein 78 ENSG00000162004 CCDC78, C16orf25, CNM4 Autosomal dominant 614807 Myopathy, centronuclear, 4 3 +611761 LMF1 Lipase maturation factor 1 ENSG00000103227 LMF1, TMEM112 Autosomal recessive 246650 Lipase deficiency, combined 3 +182455 SSTR5 Somatostatin receptor-5 ENSG00000162009 SSTR5 Autosomal dominant, Somatic mutation Somatostatin analog, resistance to 3 +607904 CACNA1H Calcium channel, voltage-dependent, T type, alpha-1H subunit ENSG00000196557 CACNA1H, EIG6, ECA6, HALD4 611942 Epilepsy, childhood absence, susceptibility to, 6 3 +607904 CACNA1H Calcium channel, voltage-dependent, T type, alpha-1H subunit ENSG00000196557 CACNA1H, EIG6, ECA6, HALD4 611942 Epilepsy, idiopathic generalized, susceptibility to, 6 3 +607904 CACNA1H Calcium channel, voltage-dependent, T type, alpha-1H subunit ENSG00000196557 CACNA1H, EIG6, ECA6, HALD4 Autosomal dominant 617027 Hyperaldosteronism, familial, type IV 3 +607838 GNPTG N-acetylglucosamine-1-phosphotransferase, gamma subunit ENSG00000090581 GNPTAG Autosomal recessive 252605 Mucolipidosis III gamma 3 +602727 CLCN7 Chloride channel-7 ENSG00000103249 CLCN7, CLC7, OPTA2, OPTB4 Autosomal dominant 166600 Osteopetrosis, autosomal dominant 2 3 +602727 CLCN7 Chloride channel-7 ENSG00000103249 CLCN7, CLC7, OPTA2, OPTB4 611490 Osteopetrosis, autosomal recessive 4 3 +611140 TELO2 Telomere maintenance 2, S. cerevisiae, homolog of ENSG00000100726 TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS Autosomal recessive 616954 You-Hoover-Fong syndrome 3 +614620 IFT140 Intraflagellar transport 140, Chlamydomonas, homolog of ENSG00000187535 IFT140, KIAA0590, SRTD9, MZSDS Autosomal recessive 266920 Short-rib thoracic dysplasia 9 with or without polydactyly 3 +601489 IGFALS Insulin-like growth factor-binding protein, acid-labile subunit ENSG00000099769 IGFALS, ALS, ACLSD 615961 Acid-labile subunit, deficiency of 3 +138760 HAGH Hydroxyacyl glutathione hydrolase; glyoxalase II ENSG00000063854 HAGH, GLO2 Autosomal dominant 614033 Glyoxalase II deficiency 1 +600924 GFER Growth factor, erv1, S. cerevisiae, homolog of (augmenter of liver regeneration) ENSG00000127554 GFER, ERV1, ALR 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 3 +602656 NTHL1 Endonuclease III, E. coli, homolog of ENSG00000065057 NTHL1, OCTS3, FAP3 Autosomal recessive 616415 Familial adenomatous polyposis 3 3 +191092 TSC2 Tuberin (tuberous sclerosis 2 gene) ENSG00000103197 TSC2, LAM distal to PKD1 606690 Lymphangioleiomyomatosis, somatic 3 +191092 TSC2 Tuberin (tuberous sclerosis 2 gene) ENSG00000103197 TSC2, LAM distal to PKD1 Autosomal dominant 613254 Tuberous sclerosis-2 3 +601313 PKD1 Polycystin-1 ENSG00000008710 PKD1 Autosomal dominant 173900 Polycystic kidney disease, adult type I 3 +601615 ABCA3 ATP-binding cassette-3 ENSG00000167972 ABCA3, ABC3, SMDP3 Autosomal recessive 610921 Surfactant metabolism dysfunction, pulmonary, 3 3 +613577 TBC1D24 TBC1 domain family, member 24 ENSG00000162065 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 Autosomal recessive 220500 DOOR syndrome 3 +613577 TBC1D24 TBC1 domain family, member 24 ENSG00000162065 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 Autosomal recessive 614617 Deafness , autosomal recessive 86 3 +613577 TBC1D24 TBC1 domain family, member 24 ENSG00000162065 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 Autosomal dominant 616044 Deafness, autosomal dominant 65 3 +613577 TBC1D24 TBC1 domain family, member 24 ENSG00000162065 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 Autosomal recessive 615338 Epileptic encephalopathy, early infantile, 16 3 +613577 TBC1D24 TBC1 domain family, member 24 ENSG00000162065 TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65 Autosomal recessive 605021 Myoclonic epilepsy, infantile, familial 3 +615403 THOC6 THO complex subunit 6 ENSG00000131652 THOC6, FSAP35, BBIS Autosomal recessive 613680 Beaulieu-Boycott-Innes syndrome 3 +608107 MEFV Pyrin (marenostrin) ENSG00000103313 MEFV, MEF, FMF between D16S80 and D16S283 Autosomal dominant 134610 Familial Mediterranean fever, AD 3 +608107 MEFV Pyrin (marenostrin) ENSG00000103313 MEFV, MEF, FMF between D16S80 and D16S283 Autosomal recessive 249100 Familial Mediterranean fever, AR 3 +613278 SLX4 Slx4, S. cerevisiae, homolog of ENSG00000188827 SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP Autosomal recessive 613951 Fanconi anemia, complementation group P 3 +125505 DNASE1 Deoxyribonuclease I ENSG00000213918 DNASE1, DNL1 Autosomal dominant 152700 Systemic lupus erythematosus, susceptibility to 3 +600140 CREBBP CREB binding protein ENSG00000005339 CREBBP, CBP, RSTS fusion partner with MORF in AML; fusion partner with MLL in therapy-related acute leukemia; fusion partner with MOZ in AML Autosomal dominant 180849 Rubinstein-Taybi syndrome 3 +608539 GLIS2 GLIS family zinc finger protein 2 ENSG00000274636 GLIS2, NPHP7 611498 Nephronophthisis 7 3 +614336 PAM16 Presequence translocase-associated motor 16, S. cerevisiae, homolog of ENSG00000217930 PAM16, MAGMAS, SMDMDM Autosomal recessive 613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 3 +611562 SEPT12 Septin 12 ENSG00000140623 SEPT12, SPGF10 Autosomal dominant 614822 Spermatogenic failure 10 3 +614574 ROGDI Rogdi, Drosophila, homolog of ENSG00000067836 ROGDI, KTZS Autosomal recessive 226750 Kohlschutter-Tonz syndrome 3 +605907 ALG1 Alg1, yeast, homolog of (beta-1,4 mannosyltransferase) ENSG00000033011 ALG1, HMAT1, HMT1, CDG1K Autosomal recessive 608540 Congenital disorder of glycosylation, type Ik 3 +616863 Chromosome 16p13.2 deletion syndrome DEL16p13.2, C16DELp13.2 Autosomal dominant 616863 Chromosome 16p13.2 deletion syndrome 4 +137150 ABAT 4-aminobutyrate aminotransferase ENSG00000183044 ABAT, GABAT Autosomal recessive 613163 GABA-transaminase deficiency 3 +601785 PMM2 Phosphomannomutase 2 ENSG00000140650 PMM2, CDG1A Autosomal recessive 212065 Congenital disorder of glycosylation, type Ia 3 +138253 GRIN2A Glutamate receptor, ionotropic, N-methyl D-aspartate 2A ENSG00000183454 GRIN2A, NMDAR2A, FESD, LKS Autosomal dominant 245570 Epilepsy, focal, with speech disorder and with or without mental retardation 3 +602334 EMP2 Epithelial membrane protein 2 ENSG00000213853 EMP2, NPHS10 Autosomal recessive 615861 Nephrotic syndrome, type 10 3 +600005 CIITA MHC class II transactivator ENSG00000179583 MHC2TA, C2TA Autosomal recessive 209920 Bare lymphocyte syndrome, type II, complementation group A 3 +600005 CIITA MHC class II transactivator ENSG00000179583 MHC2TA, C2TA 180300 Rheumatoid arthritis, susceptibility to 3 +603795 LITAF LPS-induced TNFA factor ENSG00000189067 LITAF, CMT1C Autosomal dominant 601098 Charcot-Marie-Tooth disease, type 1C 3 +133520 ERCC4 Excision-repair, complementing defective, in Chinese hamster, number 4 ENSG00000175595 ERCC4, XPF, FANCQ, XFEPS mutation identified in 1 XFEPS patient Autosomal recessive 615272 Fanconi anemia, complementation group Q 3 +133520 ERCC4 Excision-repair, complementing defective, in Chinese hamster, number 4 ENSG00000175595 ERCC4, XPF, FANCQ, XFEPS mutation identified in 1 XFEPS patient 610965 ?XFE progeroid syndrome 3 +133520 ERCC4 Excision-repair, complementing defective, in Chinese hamster, number 4 ENSG00000175595 ERCC4, XPF, FANCQ, XFEPS mutation identified in 1 XFEPS patient Autosomal recessive 278760 Xeroderma pigmentosum, group F 3 +133520 ERCC4 Excision-repair, complementing defective, in Chinese hamster, number 4 ENSG00000175595 ERCC4, XPF, FANCQ, XFEPS mutation identified in 1 XFEPS patient Autosomal recessive 278760 Xeroderma pigmentosum, type F/Cockayne syndrome 3 +604212 PARN Polyadenylate-specific ribonuclease ENSG00000140694 PARN, DAN, DKCB6, PFBMFT4 Autosomal recessive 616353 Dyskeratosis congenita, autosomal recessive 6 3 +604212 PARN Polyadenylate-specific ribonuclease ENSG00000140694 PARN, DAN, DKCB6, PFBMFT4 Autosomal dominant 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 3 +609449 NDE1 Nude, A. nidulans, homolog of, 1 ENSG00000072864 NDE1, NUDE, LIS4, MHAC mutation identified in 1 MHAC family Autosomal recessive 614019 Lissencephaly 4 (with microcephaly) 3 +609449 NDE1 Nude, A. nidulans, homolog of, 1 ENSG00000072864 NDE1, NUDE, LIS4, MHAC mutation identified in 1 MHAC family Autosomal recessive 605013 ?Microhydranencephaly 3 +160745 MYH11 Myosin, heavy polypeptide-11, smooth muscle ENSG00000133392 MYH11, AAT4, FAA4 fused with CBFB by inversion in acute myelomonocytic leukemia Autosomal dominant 132900 Aortic aneurysm, familial thoracic 4 3 +603234 ABCC6 ATP-binding cassette, subfamily C, member 6 ENSG00000275331 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 Autosomal recessive 614473 Arterial calcification, generalized, of infancy, 2 3 +603234 ABCC6 ATP-binding cassette, subfamily C, member 6 ENSG00000275331 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 Autosomal recessive 264800 Pseudoxanthoma elasticum 3 +603234 ABCC6 ATP-binding cassette, subfamily C, member 6 ENSG00000275331 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 Autosomal dominant 177850 Pseudoxanthoma elasticum, forme fruste 3 +136570 Chromosome 16p12.1 deletion syndrome, 520kb DEL16p12.1, C16DELp12.1 between 21.85-22.37 Mb 136570 Chromosome 16p12.1 deletion syndrome, 520kb 4 +608105 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp EPRPDC between D16S3133 and D16S3131 Autosomal recessive 608105 Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 2 +611247 Major affective disorder 4 MAFD4, BPAD max lod at D16S769 611247 Major affective disorder 4 2 +602594 RP22 Retinitis pigmentosa-22 RP22 602594 Retinitis pigmentosa 22 2 +608124 XYLT1 Xylosyltransferase 1 ENSG00000103489 XYLT1, XT1, DBQD2 Autosomal recessive 615777 Desbuquois dysplasia 2 3 +608124 XYLT1 Xylosyltransferase 1 ENSG00000103489 XYLT1, XT1, DBQD2 Autosomal recessive 264800 Pseudoxanthoma elasticum, modifier of severity of 3 +607669 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 ENSG00000170540 ARL6IP1, KIAA0069, SPG61 mutation identified in 1 family Autosomal recessive 615685 ?Spastic paraplegia 61, autosomal recessive 3 +601683 COQ7 COQ7, S. cerevisiae, homolog of ENSG00000167186 COQ7, CLK1, COQ10D8 mutation identified in 1 COQ10D8 patient Autosomal recessive 616733 ?Coenzyme Q10 deficiency, primary, 8 3 +191845 UMOD Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ENSG00000169344 UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria 3 +191845 UMOD Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ENSG00000169344 UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 Autosomal dominant 162000 Hyperuricemic nephropathy, familial juvenile 1 3 +191845 UMOD Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ENSG00000169344 UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 603860 Medullary cystic kidney disease 2 3 +145505 ACSM3 Acyl-CoA synthetase medium-chain family member 3 ENSG00000005187 ACSM3, SAH ?Hypertension, essential 1 +613604 Chromsome 16p12.2-p11.2 deletion syndrome DEL16p12.1p11.2, C16DELp12.1p11.2 17.1-8.7 Mb contiguous gene deletion syndrome Isolated cases 613604 Chromosome 16p12.2-p11.2 deletion syndrome 4 +611096 MRT10 611096 MRT10, MRT20 between rs724466 and rs3901517, rs7197568 and rs71972227 Autosomal recessive 611096 Mental retardation, autosomal recessive 10/20 2 +123740 CRYM Crystallin, mu ENSG00000103316 CRYM, DFNA40 Autosomal dominant 616357 Deafness, autosomal dominant 40 3 +607038 OTOA Otoancorin ENSG00000155719 OTOA, DFNB22 Autosomal recessive 607039 Deafness, autosomal recessive 22 3 +191329 UQCRC2 Ubiquinol-cytochrome c reductase core protein II ENSG00000140740 UQCRC2, MC3DN5 Autosomal recessive 615160 Mitochondrial complex III deficiency, nuclear type 5 3 +600761 SCNN1G Sodium channel, nonvoltage-gated 1, gamma ENSG00000166828 SCNN1G, PHA1, BESC3 same 400kb fragment as SCNN1B Autosomal dominant 613071 Bronchiectasis with or without elevated sweat chloride 3 3 +600761 SCNN1G Sodium channel, nonvoltage-gated 1, gamma ENSG00000166828 SCNN1G, PHA1, BESC3 same 400kb fragment as SCNN1B Autosomal dominant 177200 Liddle syndrome 3 +600761 SCNN1G Sodium channel, nonvoltage-gated 1, gamma ENSG00000166828 SCNN1G, PHA1, BESC3 same 400kb fragment as SCNN1B Autosomal recessive 264350 Pseudohypoaldosteronism, type I 3 +600760 SCNN1B Sodium channel, nonvoltage-gated 1, beta ENSG00000168447 SCNN1B, BESC1 Autosomal dominant 211400 Bronchiectasis with or without elevated sweat chloride 1 3 +600760 SCNN1B Sodium channel, nonvoltage-gated 1, beta ENSG00000168447 SCNN1B, BESC1 Autosomal dominant 177200 Liddle syndrome 3 +600760 SCNN1B Sodium channel, nonvoltage-gated 1, beta ENSG00000168447 SCNN1B, BESC1 Autosomal recessive 264350 Pseudohypoaldosteronism, type I 3 +606978 COG7 Component of oligomeric golgi complex 7 ENSG00000168434 COG7, CDG2E 608779 Congenital disorder of glycosylation, type IIe 3 +612799 EARS2 Glutamyl-tRNA synthetase 2 ENSG00000103356 EARS2, KIAA1970, COXPD12 Autosomal recessive 614924 Combined oxidative phosphorylation deficiency 12 3 +610355 PALB2 Partner and localizer of BRCA2 ENSG00000083093 PALB2, FANCN, PNCA3 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +610355 PALB2 Partner and localizer of BRCA2 ENSG00000083093 PALB2, FANCN, PNCA3 610832 Fanconi anemia, complementation group N 3 +610355 PALB2 Partner and localizer of BRCA2 ENSG00000083093 PALB2, FANCN, PNCA3 613348 Pancreatic cancer, susceptibility to, 3 3 +157700 MMVP1 Mitral valve prolapse, myxomatous 1 MMVP1, MVP, PMV Autosomal dominant 157700 Mitral valve prolapse, myxomatous 1 2 +147781 IL4R Interleukin-4 receptor ENSG00000077238 IL4R, IL4RA 609423 AIDS, slow progression to 3 +147781 IL4R Interleukin-4 receptor ENSG00000077238 IL4R, IL4RA Autosomal dominant 147050 Atopy, susceptibility to 3 +605383 IL21R Interleukin 21 receptor ENSG00000103522 IL21R fusion partner with BCL6 Autosomal dominant 147050 IgE, elevated level of 3 +605383 IL21R Interleukin 21 receptor ENSG00000103522 IL21R fusion partner with BCL6 Autosomal recessive 615207 Immunodeficiency, primary, autosomal recessive, IL21R-related 3 +616650 KIAA0556 Katanin-interacting protein ENSG00000047578 KATNIP, KIAA0556 mutation identified in 1 JBTS26 family Autosomal recessive 616784 ?Joubert syndrome 26 3 +607042 CLN3 Battenin ENSG00000188603 CLN3, BTS Autosomal recessive 204200 Ceroid lipofuscinosis, neuronal, 3 3 +613444 Chromosome 16p11.2 deletion syndrome, 220kb BMIQ16, DEL16p.11.2, C16DELp11.2 613444 Body mass index QTL16 4 +613444 Chromosome 16p11.2 deletion syndrome, 220kb BMIQ16, DEL16p.11.2, C16DELp11.2 613444 Chromosome 16p11.2 deletion syndrome, 220kb 4 +611913 Chromosome 16p11.2 deletion syndrome, 593kb DEL16p11.2, C16DELp11.2, AUTS14A 611913 Autism susceptibility 14A 2 +611913 Chromosome 16p11.2 deletion syndrome, 593kb DEL16p11.2, C16DELp11.2, AUTS14A 611913 Chromosome 16p11.2 deletion syndrome, 593kb 4 +614671 Chromosome 16p11.2 duplication syndrome DUP16p11.2, C16DUPp11.2, AUTS14B 614671 Autism, susceptibility to, 14B 2 +614671 Chromosome 16p11.2 duplication syndrome DUP16p11.2, C16DUPp11.2, AUTS14B 614671 Chromosome 16p11.2 duplication syndrome 4 +602389 TUFM Tu translation elongation factor, mitochondrial ENSG00000178952 TUFM, EFTU, COXPD4 pseudogene on chr.17 610678 Combined oxidative phosphorylation deficiency 4 3 +108730 ATP2A1 ATPase, Ca++ transporting, fast-twitch, 1 ENSG00000196296 ATP2A1, SERCA1 Autosomal recessive 601003 Brody myopathy 3 +107265 CD19 CD19 antigen ENSG00000177455 CD19, CVID3 Autosomal recessive 613493 Immunodeficiency, common variable, 3 3 +603213 KIF22 Kinesin family member 22 ENSG00000079616 KIF22, KNSL4, KID, OBP, SEMDJL2 Autosomal dominant 603546 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 3 +614386 PRRT2 Proline-rich transmembrane protein 2 ENSG00000167371 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA Autosomal dominant 602066 Convulsions, familial infantile, with paroxysmal choreoathetosis 3 +614386 PRRT2 Proline-rich transmembrane protein 2 ENSG00000167371 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA Autosomal dominant 128200 Episodic kinesigenic dyskinesia 1 3 +614386 PRRT2 Proline-rich transmembrane protein 2 ENSG00000167371 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA Autosomal dominant 605751 Seizures, benign familial infantile, 2 3 +103850 ALDOA Aldolase A, fructose-bisphosphatase ENSG00000149925 ALDOA, GSD12 pseudogenes on 3 and 10 Autosomal recessive 611881 Glycogen storage disease XII 3 +602427 TBX6 T-box 6 ENSG00000149922 TBX6, SCDO5 Autosomal dominant 122600 Spondylocostal dysostosis 5 3 +605000 CORO1A Coronin 1A ENSG00000102879 CORO1A, TACO, CLIPINA, IMD8 Autosomal recessive 615401 Immunodeficiency 8 3 +611421 SRCAP SNF2-related CBP activator protein ENSG00000080603 SRCAP, SWR1, KIAA0309, FLHS Autosomal dominant 136140 Floating-Harbor syndrome 3 +172471 PHKG2 Phosphorylase kinase, gamma 2 (testis/liver) ENSG00000156873 PHKG2, GSD9C Cirrhosis due to liver phosphorylase kinase deficiency 3 +172471 PHKG2 Phosphorylase kinase, gamma 2 (testis/liver) ENSG00000156873 PHKG2, GSD9C Autosomal recessive 613027 Glycogen storage disease IXc 3 +607764 HSD3B7 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase ENSG00000099377 HSD3B7, CBAS1 Autosomal recessive 607765 Bile acid synthesis defect, congenital, 1 3 +601485 STX1B Syntaxin 1B ENSG00000099365 STX1B, GEFSP9 Autosomal dominant 616172 Generalized epilepsy with febrile seizures plus, type 9 3 +608547 VKORC1 Vitamin K epoxide reductase complex, subunit 1 ENSG00000167397 VKORC1, VKOR, VKCFD2, FLJ00289 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2 3 +608547 VKORC1 Vitamin K epoxide reductase complex, subunit 1 ENSG00000167397 VKORC1, VKOR, VKCFD2, FLJ00289 Autosomal dominant 122700 Warfarin resistance 3 +614901 BCKDK Branched-chain alpha-keto acid dehydrogenase kinase ENSG00000103507 BCKDK, BDK, BCKDKD 614923 Branched-chain ketoacid dehydrogenase kinase deficiency 3 +137070 FUS Fusion, derived from 12-16 translocation, malignant liposarcoma ENSG00000089280 FUS, TLS, ALS6, ETM4 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma 608030 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 3 +137070 FUS Fusion, derived from 12-16 translocation, malignant liposarcoma ENSG00000089280 FUS, TLS, ALS6, ETM4 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma Autosomal dominant 614782 Tremor, hereditary essential, 4 3 +120980 ITGAM Integrin, alpha-M (complement component receptor-3, alpha; antigen CD11B (p170); macrophage antigen, alpha polypeptide) ENSG00000169896 ITGAM, CR3A, CD11B, MAC1A, SLEB6 ?in same restriction fragment as LFA1A 609939 Systemic lupus erythematous, association with susceptibility to, 6 3 +615549 ARMC5 Armadillo repeat-containing protein 5 ENSG00000140691 ARMC5, AIMAH2 Autosomal dominant, Somatic mutation 615954 ACTH-independent macronodular adrenal hyperplasia 2 3 +182381 SLC5A2 Solute carrier family 5 (sodium/glucose cotransporter), member 2 ENSG00000140675 SLC5A2, SGLT2 Autosomal recessive, Autosomal dominant 233100 Renal glucosuria 3 +610753 Alopecia areata 2 AA2 max lod at D16S415 Autosomal recessive, Autosomal dominant 610753 Alopecia areata 2 2 +126900 Dupuytren contracture 1 DUPC1 max lod at D16S415 Autosomal dominant 126900 Dupuytren contracture 1 2 +610707 PSORS8 Psoriasis susceptibility 8 PSORS8 proximal to D16S3034 610707 Psoriasis susceptibility 8 2 +606711 Specific language impairment QTL, 1 SLI1 Multifactorial 606711 Specific language impairment QTL, 1 2 +194090 Wilms tumor-3 WT3 loss of heterozygosity Autosomal dominant 194090 Wilms tumor, type 3 2 +601501 VPS35 Vacuolar protein sorting 35, yeast, homolog of ENSG00000069329 VPS35, MEM3, PARK17 Autosomal dominant 614203 Parkinson disease 17 3 +607213 ORC6 Origin recognition complex, subunit 6, S. cerevisiae, homolog of ENSG00000091651 ORC6, ORC6L Autosomal recessive 613803 Meier-Gorlin syndrome 3 3 +138210 GPT2 Glutamate pyruvate transaminase 2 ENSG00000166123 GPT2, ALT2, MRT49 Autosomal recessive 616281 Mental retardation, autosomal recessive 49 3 +602639 HYD2 Tooth agenesis, selective, 2 STHAG2, HYD2 602639 Tooth agenesis, selective, 2 2 +614668 Stuttering, familial persistent, 4 STUT4 max lod at D16S3043 614668 Stuttering, familial persistent, 4 2 +172490 PHKB Phosphorylase kinase, beta polypeptide ENSG00000102893 PHKB Autosomal recessive 261750 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 3 +607040 ABCC11 ATP-binding cassette, subfamily C, member 11 ENSG00000121270 ABCC11, MRP8, EWWD, WW Autosomal dominant 117800 Axillary odor, variation in 3 +607040 ABCC11 ATP-binding cassette, subfamily C, member 11 ENSG00000121270 ABCC11, MRP8, EWWD, WW Autosomal dominant 117800 Colostrum secretion, variation in 3 +607040 ABCC11 ATP-binding cassette, subfamily C, member 11 ENSG00000121270 ABCC11, MRP8, EWWD, WW Autosomal dominant 117800 Earwax, wet/dry 3 +604557 ZNF423 Zinc finger protein 423 ENSG00000102935 ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19 Autosomal recessive, Autosomal dominant 614844 Joubert syndrome 19 3 +604557 ZNF423 Zinc finger protein 423 ENSG00000102935 ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19 Autosomal recessive, Autosomal dominant 614844 Nephronophthisis 14 3 +605956 NOD2 Nucleotide-binding oligomerization domain protein 2 ENSG00000167207 NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 Autosomal dominant 186580 Blau syndrome 3 +605956 NOD2 Nucleotide-binding oligomerization domain protein 2 ENSG00000167207 NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 Multifactorial 266600 Inflammatory bowel disease (Crohn disease) 1 3 +605956 NOD2 Nucleotide-binding oligomerization domain protein 2 ENSG00000167207 NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 607507 Psoriatic arthritis, susceptibility to 3 +605956 NOD2 Nucleotide-binding oligomerization domain protein 2 ENSG00000167207 NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 609464 Sarcoidosis, early-onset 3 +605018 CYLD CYLD gene ENSG00000083799 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS behaves as tumor suppressor Autosomal dominant 605041 Brooke-Spiegler syndrome 3 +605018 CYLD CYLD gene ENSG00000083799 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS behaves as tumor suppressor Autosomal dominant 132700 Cylindromatosis, familial 3 +605018 CYLD CYLD gene ENSG00000083799 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS behaves as tumor suppressor Autosomal dominant 601606 Trichoepithelioma, multiple familial, 1 3 +602218 SALL1 Sal-like 1 ENSG00000103449 SALL1, HSAL1, TBS Autosomal dominant 107480 Townes-Brocks branchiootorenal-like syndrome 3 +602218 SALL1 Sal-like 1 ENSG00000103449 SALL1, HSAL1, TBS Autosomal dominant 107480 Townes-Brocks syndrome 3 +610937 RPGRIP1L RPGRIP1-like ENSG00000103494 RPGRIP1L, KIAA1005, JBTS7, MKS5 Autosomal recessive 216360 COACH syndrome 3 +610937 RPGRIP1L RPGRIP1-like ENSG00000103494 RPGRIP1L, KIAA1005, JBTS7, MKS5 Autosomal recessive 611560 Joubert syndrome 7 3 +610937 RPGRIP1L RPGRIP1-like ENSG00000103494 RPGRIP1L, KIAA1005, JBTS7, MKS5 Autosomal recessive 611561 Meckel syndrome 5 3 +610966 FTO Fat mass- and obesity-associated gene ENSG00000140718 FTO, GDFD, BMIQ14 Autosomal recessive 612938 Growth retardation, developmental delay, facial dysmorphism 3 +610966 FTO Fat mass- and obesity-associated gene ENSG00000140718 FTO, GDFD, BMIQ14 Autosomal recessive 612460 Obesity, susceptibility to, BMIQ14 3 +606195 IRX5 Iroquois homeo box protein 5 ENSG00000176842 IRX5, HMMS Autosomal recessive 611174 Hamamy syndrome 3 +120360 MMP2 Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase) ENSG00000087245 MMP2, CLG4A, MONA near MT1,2 Autosomal recessive 259600 Multicentric osteolysis, nodulosis, and arthropathy 3 +163970 SLC6A2 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive ENSG00000103546 SLC6A2, NAT1, NET1 604715 Orthostatic intolerance 3 +114835 CES1 Carboxylesterase 1 (monocyte/macrophage serine esterase 1) ENSG00000198848 CES1, SES1 Carboxylesterase 1 deficiency 3 +605746 Anisomastia ANMA 605746 Anisomastia 2 +611031 Episodic kinesigenic dyskinesia 2 EKD2 max lod at D16S503 Autosomal dominant 611031 Episodic kinesigenic dyskinesia 2 2 +139311 GNAO1 Guanine nucleotide-binding protein (G protein), alpha-activating activity ENSG00000087258 GNAO1, EIEE17 close to MT1 in mouse Autosomal dominant 615473 Epileptic encephalopathy, early infantile, 17 3 +606151 BBS2 Bardet-Biedl syndrome 2 ENSG00000125124 BBS2, RP74 Autosomal recessive 615981 Bardet-Biedl syndrome 2 3 +606151 BBS2 Bardet-Biedl syndrome 2 ENSG00000125124 BBS2, RP74 Autosomal recessive 616562 Retinitis pigmentosa 74 3 +614351 NUP93 Nucleoporin, 93kD ENSG00000102900 NUP93, NIC96, KIAA0095, NPHS12 Autosomal recessive 616892 Nephrotic syndrome, type 12 3 +600968 SLC12A3 Solute carrier family 12 (sodium/potassium/chloride transporters), member 3 ENSG00000070915 SLC12A3, NCCT, TSC Autosomal recessive 263800 Gitelman syndrome 3 +118470 CETP Cholesteryl ester transfer protein, plasma ENSG00000087237 CETP, HDLCQ10 Autosomal dominant 143470 High density lipoprotein cholesterol level QTL 10 3 +118470 CETP Cholesteryl ester transfer protein, plasma ENSG00000087237 CETP, HDLCQ10 Autosomal dominant 143470 Hyperalphalipoproteinemia 3 +616585 RSPRY1 RING finger- and SPRY domain-containing protein 11 ENSG00000159579 RSPRY1, KIAA1972, SEMDFA Autosomal recessive 616723 Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type 3 +615407 ARL2BP ADP ribosylation factor-like 2-binding protein ENSG00000102931 ARL2BP, BART Autosomal recessive 615434 Retinitis pigmentosa with or without situs inversus 3 +616648 OPA8 Optic atrophy 8 OPA8 max lod at D16S752 Autosomal dominant 616648 Optic atroph 8 2 +612837 COQ9 Coq9, S. cerevisiae, homolog of ENSG00000088682 COQ9, C16orf49, COQ10D5 Autosomal recessive 614654 Coenzyme Q10 deficiency, primary, 5 3 +604110 ADGRG1 Adhesion G protein-coupled receptor G1 ENSG00000205336 ADGRG1, GPR56, TM7XN1, BFPP, BPPR Autosomal recessive 606854 Polymicrogyria, bilateral frontoparietal 3 +604110 ADGRG1 Adhesion G protein-coupled receptor G1 ENSG00000205336 ADGRG1, GPR56, TM7XN1, BFPP, BPPR 615752 Polymicrogyria, bilateral perisylvian 3 +602703 KATNB1 Katanin, p80 subunit, B1 ENSG00000140854 KATNB1, LIS6 Autosomal recessive 616212 Lissencephaly 6, with microcephaly 3 +600724 CNGB1 Cyclic nucleotide gated channel, beta 1 ENSG00000070729 CNGB1, CNCG3L, CNCG2, RP45 Autosomal recessive 613767 Retinitis pigmentosa 45 3 +613276 USB1 Chromosome 16 open reading frame 57 ENSG00000103005 C16orf57, PN Autosomal recessive 604173 Poikiloderma with neutropenia 3 +612051 BEAN1 Brain-expressed, associated with NEDD4 ENSG00000166546 BEAN, SCA31 Autosomal dominant 117210 Spinocerebellar ataxia 31 3 +188250 TK2 Thymidine kinase, mitochondrial ENSG00000166548 TK2, MTDPS2, PEOB3 mutation identified in 1 PEOB3 family Autosomal recessive 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type) 3 +188250 TK2 Thymidine kinase, mitochondrial ENSG00000166548 TK2, MTDPS2, PEOB3 mutation identified in 1 PEOB3 family Autosomal recessive 617069 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 3 +606179 Aneurysmal bone cysts ANBC t(16:17); ?defect at 17p13 606179 Aneurysmal bone cysts 2 +613055 Atrial fibrillation, familial, 8 ATFB8 associated with rs7193343 613055 Atrial fibrillation, familial, 8 2 +614541 Chromosome 16q22 deletion syndrome C16DELq22, DEL16q22 Isolated cases 614541 Chromosome 16q22 deletion syndrome 4 +612590 Colorectal cancer, susceptibility to, 9 CRCS9 associated with rs9929218 612590 Colorectal cancer, susceptibility to, 9 2 +604901 North American Indian childhood cirrhosis NAIC 604901 North American Indian childhood cirrhosis 2 +611571 OTSC4 Otosclerosis 4 OTSC4 between D16S3107 and D16S3097 Autosomal dominant 611571 Otosclerosis 4 2 +600223 Spinocerebellar ataxia 4 SCA4 Autosomal dominant 600223 Spinocerebellar ataxia 4 2 +121360 CBFB Core-binding factor, beta subunit ENSG00000067955 CBFB, PEBP2B inv(16)(p13;q22); fuses to MYH11 601626 Myeloid leukemia, acute, M4/M4Eo subtype, somatic 1 +602438 HSF4 Heat-shock transcription factor 4 ENSG00000102878 HSF4, CTM, CTRCT5 Autosomal dominant 116800 Cataract 5, multiple types 3 +605235 NOL3 Nucleolar protein 3 ENSG00000140939 NOL3, NOP, MYC, ARC, FCM Autosomal dominant 614937 Myoclonus, familial cortical 3 +614232 HSD11B2 Hydroxysteroid (11-beta) dehydrogenase 2 ENSG00000176387 HSD11B2, HSD11K, AME Autosomal recessive 218030 Apparent mineralocorticoid excess 3 +602311 AGRP Agouti-related transcript, mouse, homolog of ENSG00000159723 AGRP, ART, AGRT Leanness, inherited 3 +602311 AGRP Agouti-related transcript, mouse, homolog of ENSG00000159723 AGRP, ART, AGRT Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, late-onset 3 +604167 CTCF CCCTC-binding factor ENSG00000102974 CTCF, MRD21 Autosomal dominant 615502 Mental retardation, autosomal dominant 21 3 +609377 ACD Acd, mouse, homolog of ENSG00000102977 ACD, PTOP, PIP1, TINT1 mutation has been identified in 1 DKCA7 and 1 DKCB7 family Autosomal recessive, Autosomal dominant 616553 ?Dyskeratosis congenita, autosomal dominant 6 3 +609377 ACD Acd, mouse, homolog of ENSG00000102977 ACD, PTOP, PIP1, TINT1 mutation has been identified in 1 DKCA7 and 1 DKCB7 family Autosomal recessive, Autosomal dominant 616553 ?Dyskeratosis congenita, autosomal recessive 7 3 +606967 LCAT Lecithin-cholesterol acyltransferase ENSG00000213398 LCAT very close to HP Autosomal recessive 136120 Fish-eye disease 3 +606967 LCAT Lecithin-cholesterol acyltransferase ENSG00000213398 LCAT very close to HP Autosomal recessive 245900 Norum disease 3 +114021 CDH3 Cadherin-3 (P-cadherin) ENSG00000062038 CDH3, CDHP, PCAD, HJMD in mouse tightly linked to ECAD Autosomal recessive 225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 3 +114021 CDH3 Cadherin-3 (P-cadherin) ENSG00000062038 CDH3, CDHP, PCAD, HJMD in mouse tightly linked to ECAD Autosomal recessive 601553 Hypotrichosis, congenital, with juvenile macular dystrophy 3 +192090 CDH1 Cadherin-1 (E-cadherin; uvomorulin) ENSG00000039068 CDH1, UVO, LCAM, ECAD near LCAT Autosomal dominant 114480 Breast cancer, lobular 3 +192090 CDH1 Cadherin-1 (E-cadherin; uvomorulin) ENSG00000039068 CDH1, UVO, LCAM, ECAD near LCAT 608089 Endometrial carcinoma, somatic 3 +192090 CDH1 Cadherin-1 (E-cadherin; uvomorulin) ENSG00000039068 CDH1, UVO, LCAM, ECAD near LCAT Autosomal dominant 137215 Gastric cancer, familial diffuse, with or without cleft lip and/or palate 3 +192090 CDH1 Cadherin-1 (E-cadherin; uvomorulin) ENSG00000039068 CDH1, UVO, LCAM, ECAD near LCAT 167000 Ovarian carcinoma, somatic 3 +192090 CDH1 Cadherin-1 (E-cadherin; uvomorulin) ENSG00000039068 CDH1, UVO, LCAM, ECAD near LCAT Autosomal dominant 176807 Prostate cancer, susceptibility to 3 +606979 COG8 Component of oligomeric golgi complex 8 ENSG00000272617 COG8, DOR1, CDG2H 611182 Congenital disorder of glycosylation, type IIh 3 +125860 NQO1 NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) ENSG00000181019 NQO1, DIA4, NMOR1 Benzene toxicity, susceptibility to 3 +125860 NQO1 NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) ENSG00000181019 NQO1, DIA4, NMOR1 Breast cancer, poor survival after chemotherapy for 3 +125860 NQO1 NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) ENSG00000181019 NQO1, DIA4, NMOR1 Leukemia, post-chemotherapy, susceptibility to 3 +601065 AARS Alanyl-tRNA synthetase ENSG00000090861 AARS, CMT2N, EIEE29 Autosomal dominant 613287 Charcot-Marie-Tooth disease, axonal, type 2N 3 +601065 AARS Alanyl-tRNA synthetase ENSG00000090861 AARS, CMT2N, EIEE29 Autosomal recessive 616339 Epileptic encephalopathy, early infantile, 29 3 +606976 COG4 Component of oligomeric golgi complex 4 ENSG00000103051 COG4, COD1, CDG2J Autosomal recessive 613489 Congenital disorder of glycosylation, type IIj 3 +604632 VAC14 Vac14, S. cerevisiae, homolog of ENSG00000103043 VAC14, TAX1BP2, TRX, SNDC Autosomal recessive 617054 Striatonigral degeneration, childhood-onset 3 +610812 HYDIN Hydin, mouse, homolog of ENSG00000283022 HYDIN, HYDIN1, CILD5 duplicated copy on 1q21.1 Autosomal recessive 608647 Ciliary dyskinesia, primary, 5 3 +613018 TAT Tyrosine aminotransferase, soluble ENSG00000198650 TAT Autosomal recessive 276600 Tyrosinemia, type II 3 +126064 DHODH Dihydroorotate dehydrogenase ENSG00000102967 DHODH, URA1, POADS Autosomal recessive 263750 Miller syndrome 3 +140100 HP Haptoglobin ENSG00000257017 HP just distal to fra16q22.1 614081 Anhaptoglobinemia 3 +140100 HP Haptoglobin ENSG00000257017 HP just distal to fra16q22.1 614081 Hypohaptoglobinemia 3 +104155 ZFHX3 Zinc finger homeobox 3 ENSG00000140836 ZFHX3, ATBF1 176807 Prostate cancer, susceptibility to, somatic 3 +608932 Keratoconus 2 KTCN2 608932 Keratoconus 2 2 +612727 Bone mineral density quantitative trait locus 13 BMND13 associated with rs16945612 612727 Bone mineral density QTL 13 2 +608462 Hirschsprung disease, susceptibility to, 8 HSCR8 608462 Hirschsprung disease, susceptibility to, 8 2 +611026 FA2H Fatty acid 2-hydroxylase ENSG00000103089 FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35 Autosomal recessive 612319 Spastic paraplegia 35, autosomal recessive 3 +605294 CHST6 Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal) ENSG00000183196 CHST6, MCDC1 Autosomal recessive 217800 Macular corneal dystrophy 3 +614949 TMEM231 Transmembrane protein 231 ENSG00000205084 TMEM231, JBTS20, MKS11 Autosomal recessive 614970 Joubert syndrome 20 3 +614949 TMEM231 Transmembrane protein 231 ENSG00000205084 TMEM231, JBTS20, MKS11 Autosomal recessive 615397 Meckel syndrome 11 3 +601421 KARS Lysyl-tRNA synthetase ENSG00000065427 KARS, CMTRIB, DFNB89 mutation identified in 1 CMTRIB patient Autosomal recessive 613641 ?Charcot-Marie-Tooth disease, recessive intermediate, B 3 +601421 KARS Lysyl-tRNA synthetase ENSG00000065427 KARS, CMTRIB, DFNB89 mutation identified in 1 CMTRIB patient Autosomal recessive 613916 Deafness, autosomal recessive 89 3 +607512 ADAMTS18 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 18 ENSG00000140873 ADAMTS18, MMCAT Autosomal recessive 615458 Microcornea, myopic chorioretinal atrophy, and telecanthus 3 +605131 WWOX WW domain-containing oxidoreductase ENSG00000186153 WWOX, FOR, SCAR12, EIEE28 Autosomal recessive 616211 Epileptic encephalopathy, early infantile, 28 3 +605131 WWOX WW domain-containing oxidoreductase ENSG00000186153 WWOX, FOR, SCAR12, EIEE28 133239 Esophageal squamous cell carcinoma, somatic 3 +605131 WWOX WW domain-containing oxidoreductase ENSG00000186153 WWOX, FOR, SCAR12, EIEE28 Autosomal recessive 614322 Spinocrebellar ataxia, autosomal recessive 12 3 +177075 MAF v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ENSG00000178573 MAF, CCA4, CTRCT21, AYGRP Autosomal dominant 601088 Ayme-Gripp syndrome 3 +177075 MAF v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ENSG00000178573 MAF, CCA4, CTRCT21, AYGRP Autosomal dominant 610202 Cataract 21, multiple types 3 +238330 GCSH Glycine cleavage system H protein ENSG00000140905 GCSH, NKH Autosomal recessive 605899 Glycine encephalopathy 3 +605748 BCO1 Beta-carotene 15,15-prime-dioxygenase ENSG00000135697 BCMO1, BCDO, BCO1 Autosomal dominant 115300 Hypercarotenemia and vitamin A deficiency, autosomal dominant 3 +605379 GAN Gigaxonin ENSG00000261609 GAN, GAN1 Autosomal recessive 256850 Giant axonal neuropathy-1 3 +613836 Adiponectin, serum level of, quantitative trait locus 5 ADIPQTL5 associated with rs3865188 613836 Adiponectin, serum level of, QTL5 2 +600220 PLCG2 Phospholipase C, gamma 2 (phosphatidylyinositol-specific) ENSG00000197943 PLCG2, FCAS3, APLAID Autosomal dominant 614878 Autoinflammation, antibody deficiency, and immune dysregulation syndrome 3 +600220 PLCG2 Phospholipase C, gamma 2 (phosphatidylyinositol-specific) ENSG00000197943 PLCG2, FCAS3, APLAID Autosomal dominant 614468 Familial cold autoinflammatory syndrome 3 3 +606761 MLYCD Malonyl-CoA decarboxylase ENSG00000103150 MLYCD, MCD Autosomal recessive 248360 Malonyl-CoA decarboxylase deficiency 3 +615585 SLC38A8 Solute carrier family 38 (amino acid transporter), member 8 ENSG00000166558 SLC38A8, FVH2 Autosomal recessive 609218 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 3 +607687 High density lipoprotein cholesterol, low serum, 3 HDLC3 607687 High density lipoprotein cholesterol, low serum, 3 2 +613547 Stature quantitative trait locus 22 STQTL22 linked to rs299956 and rs2076962 613547 Stature QTL 22 2 +613190 DNAAF1 Leucine-rich repeat-containing protein 50 ENSG00000154099 LRRC50, ODA7, CILD13 Autosomal recessive 613193 Ciliary dyskinesia, primary, 13 3 +601565 IRF8 Interferon regulatory factor 8 ENSG00000140968 IRF8, ICSBP1, IMD32A, IMD32B Autosomal dominant 614893 Immunodeficiency 32A, mycobacteriosis, autosomal dominant 3 +601565 IRF8 Interferon regulatory factor 8 ENSG00000140968 IRF8, ICSBP1, IMD32A, IMD32B Autosomal recessive 614894 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 3 +601089 FOXF1 Forkhead box F1 ENSG00000103241 FOXF1, FKHL5, ACDMPV Autosomal dominant 265380 Alveolar capillary dysplasia with misalignment of pulmonary veins 3 +602402 FOXC2 Forkhead box C2 ENSG00000176692 FOXC2, FKHL14, MFH1 Autosomal dominant 153400 Lymphedema-distichiasis syndrome 3 +602402 FOXC2 Forkhead box C2 ENSG00000176692 FOXC2, FKHL14, MFH1 Autosomal dominant 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 3 +609102 FBXO31 F-box only protein 31 ENSG00000103264 FBXO31, FBX31, FBXO14, FBX14, MRT45 mutation identified in 1 MRT45 family Autosomal recessive 615979 ?Mental retardation, autosomal recessive 45 3 +605268 JPH3 Junctophilin 3 ENSG00000154118 JPH3, JP3, HDL2 Autosomal dominant 606438 Huntington disease-like 2 3 +114761 CA5A Carbonic anhydrase VA (mitochondrial) ENSG00000174990 CA5A, CA5AD pseudogene on 16p Autosomal recessive 615751 Hyperammonemia due to carbonic anhydrase VA deficiency 3 +612078 ZNF469 Zinc finger protein 469 ENSG00000225614 ZNF469, KIAA1858, BCS1 Autosomal recessive 229200 Brittle cornea syndrome 1 3 +608508 CYBA Cytochrome b-245, alpha polypeptide ENSG00000051523 CYBA Autosomal recessive 233690 Chronic granulomatous disease, autosomal, due to deficiency of CYBA 3 +603236 MVD Mevalonate pyrophosphate decarboxylase ENSG00000167508 MVD, MPD, POROK7 Autosomal dominant 614714 Porokeratosis 7, multiple types 3 +612525 Pyloric stenosis, infantile hypertrophic, 5 IHPS5 between rs7197068 and rs750740 612525 Pyloric stenosis, infantile hypertrophic, 5 2 +611184 PIEZO1 PIEZO1 ion channel ENSG00000103335 PIEZO1, FAM38A, MIB, DHS, LMPH3 Autosomal dominant 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 3 +611184 PIEZO1 PIEZO1 ion channel ENSG00000103335 PIEZO1, FAM38A, MIB, DHS, LMPH3 Autosomal recessive 616843 Lymphedema, hereditary, III 3 +605525 CDT1 Chromatin licensing and DNA replication factor 1 ENSG00000167513 CDT1 Autosomal recessive 613804 Meier-Gorlin syndrome 4 3 +102600 APRT Adenine phosphoribosyltransferase ENSG00000198931 APRT, APRTD telomeric to GALNS, transcribed in same cen-tel direction Autosomal recessive 614723 Adenine phosphoribosyltransferase deficiency 3 +612222 GALNS Galactosamine (N-acetyl)-6-sulfate sulfatase ENSG00000141012 GALNS, MPS4A centromeric to APRT Autosomal recessive 253000 Mucopolysaccharidosis IVA 3 +614245 ACSF3 Acyl-CoA synthetase family member 3 ENSG00000176715 ACSF3 614265 Combined malonic and methylmalonic aciduria 3 +114019 CDH15 Cadherin-15, M-cadherin (myotubule) ENSG00000129910 CDH15, CDH14, CDH3, MRD3 tightly linked to Aprt in mouse 612580 Mental retardation, autosomal dominant 3 3 +611192 ANKRD11 Ankyrin repeat domain-containing protein 11 ENSG00000167522 ANKRD11, ANCO1, KBGS Autosomal dominant 148050 KBG syndrome 3 +602783 SPG7 Paraplegin ENSG00000197912 PGN, SPG7, CMAR, CAR Autosomal recessive, Autosomal dominant 607259 Spastic paraplegia 7, autosomal recessive 3 +164010 CHMP1A CHMP family, member 1A ENSG00000131165 CHMP1A, PCOLN3, PRSM1, PCH8 Autosomal recessive 614961 Pontocerebellar hypoplasia, type 8 3 +607139 FANCA Fanconi anemia, complementation group A ENSG00000187741 FANCA, FACA, FA1, FA, FAA linkage heterogeneity Autosomal recessive 227650 Fanconi anemia, complementation group A 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 Autosomal recessive 203200 Albinism, oculocutaneous, type II, modifier of 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 613098 Analgesia from kappa-opioid receptor agonist, female-specific 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 613099 Melanoma, cutaneous malignant, 5 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 Autosomal recessive 266300 Skin/hair/eye pigmentation 2, blond hair/fair skin 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 Autosomal recessive 266300 Skin/hair/eye pigmentation 2, red hair/fair skin 3 +155555 MC1R Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) ENSG00000258839 MC1R, SHEP2, CMM5 Autosomal recessive 266300 UV-induced skin damage 3 +602661 TUBB3 Tubulin, beta-3 ENSG00000258947 TUBB3, TUBB4, CFEOM3A, CDCBM1 Autosomal dominant 614039 Cortical dysplasia, complex, with other brain malformations 1 3 +602661 TUBB3 Tubulin, beta-3 ENSG00000258947 TUBB3, TUBB4, CFEOM3A, CDCBM1 Autosomal dominant 600638 Fibrosis of extraocular muscles, congenital, 3A 3 +605178 GAS8 Growth arrest-specific 8 ENSG00000141013 GAS8, GAS11, CILD33 Autosomal recessive 616726 Ciliary dyskinesia, primary, 33 3 +608631 Asperger syndrome, susceptibility to, 2 ASPG2 breakpoints between CHRNE and GP1BA Isolated cases, Multifactorial 608631 Asperger syndrome susceptibility 2 2 +113721 Breast cancer-related regulator of TP53 BCPR Breast cancer 1 +215500 CACD Choroidal dystrophy, central areolar 1 CACD1 Autosomal recessive 215500 Choroidal dystrophy, central areolar 1 2 +601202 CTAA2 Cataract 24, anterior polar CTRCT24, CTAA2 Autosomal dominant 601202 Cataract 24, anterior polar 2 +613215 Chromosome 17p13.3 duplication syndrome DUP17p13.3, C17DUPp13.3 includes LIS1 and/or YWHAE 613215 Chromosome 17p13.3 duplication syndrome 4 +247200 Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion syndrome) MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3 Autosomal dominant 247200 Miller-Dieker lissencephaly syndrome 4 +616964 Palmoplantar carcinoma, multiple self-healing MSPC between rs8065368 and rs2322788 Autosomal dominant 616964 Palmoplantar carcinoma, multiple self-healing 2 +605779 Nail disorder, nonsyndromic congenital, 7 (onychodysplasia, isolated congenital) NDNC7 Autosomal dominant 605779 Nail disorder, nonsyndromic congenital, 7 2 +612576 Split-hand/foot malformation with long bone deficiency 3 SHFLD3, DUP17p13.3, C17DUPp13.3 max lod at or near D17S1533; contiguous gene duplication syndrome Autosomal dominant 612576 Split-hand/foot malformation with long bone deficiency 3 4 +613498 Sex hormone-binding globulin circulating level quantitative trait locus 1 SXGQTL1 associated with rs1799941 613498 Sex hormone-binding globulin circulating level QTL 1 2 +615850 VPS53 Vacuolar protein sorting 53, S. cerevisiae, homolog of ENSG00000141252 VPS53, HCCS1, PCH2E Autosomal recessive 615851 Pontocerebellar hypoplasia, type 2E 3 +615416 BHLHA9 Basic helix-loop-helix family, member A9 ENSG00000205899 BHLHA9, BHLHF42, MSSD, CCSPD mutation identified in 1 CCSPD family Autosomal recessive 607539 ?Camptosynpolydactyly, complex 3 +615416 BHLHA9 Basic helix-loop-helix family, member A9 ENSG00000205899 BHLHA9, BHLHF42, MSSD, CCSPD mutation identified in 1 CCSPD family Autosomal recessive 609432 Syndactyly, mesoaxial synostotic, with phalangeal reduction 3 +607300 PRPF8 Precursor mRNA-processing factor 8, S. cerevisiae, homolog of ENSG00000174231 PRPF8, PRPC8, RP13 Autosomal dominant 600059 Retinitis pigmentosa 13 3 +614218 WDR81 WD repeat-containing protein 81 ENSG00000167716 WDR81, CAMRQ2 Autosomal recessive 610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 3 +613168 SERPINF2 Alpha-2-plasmin inhibitor ENSG00000167711 PLI, SERPINF2 Autosomal recessive 262850 Alpha-2-plasmin inhibitor deficiency 3 +172860 SERPINF1 Serpin peptidase inhibitor, clade F, member 1 ENSG00000282307 SERPINF1, PEDF, OI6 same region as RP13 613982 Osteogenesis imperfecta, type VI 3 +603527 DPH1 DPH1, S. cerevisiae, homolog of (ovarian cancer gene 1) ENSG00000108963 DPH1, DPH2L1, OVCA1, DEDSSH Autosomal recessive 616901 Developmental delay with short stature, dysmorphic features, and sparse hair 3 +601545 PAFAH1B1 Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit ENSG00000007168 PAFAH1B1, LIS1 Isolated cases 607432 Lissencephaly 1 3 +601545 PAFAH1B1 Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit ENSG00000007168 PAFAH1B1, LIS1 Isolated cases 607432 Subcortical laminar heterotopia 3 +614341 Mental retardation, autosomal recessive 33 MRT33 between rs1367950 and rs1826925 614341 Mental retardation, autosomal recessive 33 2 +608034 ASPA Aspartoacylase (aminoacylase-2) ENSG00000108381 ASPA Autosomal recessive 271900 Canavan disease 3 +607066 TRPV3 Transient receptor potential cation channel, subfamily V, member 3 ENSG00000167723 TRPV3, OLMS, FNEPPK2 mutation identified in 1 FNEPPK2 family Autosomal dominant 614594 Olmsted syndrome 3 +607066 TRPV3 Transient receptor potential cation channel, subfamily V, member 3 ENSG00000167723 TRPV3, OLMS, FNEPPK2 mutation identified in 1 FNEPPK2 family Autosomal dominant 616400 ?Palmoplantar keratoderma, nonepidermolytic, focal 2 3 +606272 CTNS Cystinosin ENSG00000040531 CTNS ?3 allelic forms Autosomal recessive 219800 Cystinosis, atypical nephropathic 3 +606272 CTNS Cystinosin ENSG00000040531 CTNS ?3 allelic forms Autosomal recessive 219900 Cystinosis, late-onset juvenile or adolescent nephropathic 3 +606272 CTNS Cystinosin ENSG00000040531 CTNS ?3 allelic forms Autosomal recessive 219800 Cystinosis, nephropathic 3 +606272 CTNS Cystinosin ENSG00000040531 CTNS ?3 allelic forms Autosomal recessive 219750 Cystinosis, ocular nonnephropathic 3 +600845 P2RX1 Purinergic receptor P2X, ligand-gated ion channel, 1 ENSG00000108405 P2RX1, P2X1 609821 Bleeding disorder due to P2RX1 defect, somatic 3 +614312 ZMYND15 Zinc finger MYND-containing protein 15 ENSG00000141497 ZMYND15, SPGF14 mutation identified in 1 SPGF14 family Autosomal recessive 615842 ?Spermatogenic failure 14 3 +100725 CHRNE Cholinergic receptor, nicotinic, epsilon polypeptide ENSG00000108556 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C Autosomal recessive, Autosomal dominant 605809 Myasthenic syndrome, congenital, 4A, slow-channel 3 +100725 CHRNE Cholinergic receptor, nicotinic, epsilon polypeptide ENSG00000108556 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C Autosomal recessive 616324 Myasthenic syndrome, congenital, 4B, fast-channel 3 +100725 CHRNE Cholinergic receptor, nicotinic, epsilon polypeptide ENSG00000108556 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C Autosomal recessive 608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 3 +606672 GP1BA Glycoprotein Ib, platelet, alpha polypeptide ENSG00000185245 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Autosomal recessive 231200 Bernard-Soulier syndrome, type A1 (recessive) 3 +606672 GP1BA Glycoprotein Ib, platelet, alpha polypeptide ENSG00000185245 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Autosomal dominant 153670 Bernard-Soulier syndrome, type A2 (dominant) 3 +606672 GP1BA Glycoprotein Ib, platelet, alpha polypeptide ENSG00000185245 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Autosomal recessive 258660 Nonarteritic anterior ischemic optic neuropathy, susceptibility to 3 +606672 GP1BA Glycoprotein Ib, platelet, alpha polypeptide ENSG00000185245 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Autosomal dominant 177820 von Willebrand disease, platelet-type 3 +176610 PFN1 Profilin-1 ENSG00000108518 PFN1, ALS18 614808 Amyotrophic lateral sclerosis 18 3 +131370 ENO3 Enolase-3, beta, muscle ENSG00000108515 ENO3, GSD13 mutation identified in 1 GSD13 patient Autosomal recessive 612932 ?Glycogen storage disease XIII 3 +603060 KIF1C Kinesin family member 1C ENSG00000129250 KIF1C, LTXS1, KIAA0706, SPAX2 Autosomal recessive 611302 Spastic ataxia 2, autosomal recessive 3 +607883 SLC52A1 Solute carrier family 52, riboflavin transporter, member 1 ENSG00000132517 SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD Autosomal dominant 615026 Riboflavin deficiency 3 +606636 NLRP1 NLR family, pyrin domain containing 1 ENSG00000091592 NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, CIDED 1 CIDED family identified with mutation Autosomal dominant 615225 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia 3 +606636 NLRP1 NLR family, pyrin domain containing 1 ENSG00000091592 NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, CIDED 1 CIDED family identified with mutation 606579 Vitiligo-associated multiple autoimmune disease susceptibility 1 3 +604392 AIPL1 Arylhydrocarbon-interacting receptor protein-like 1 ENSG00000129221 AIPL1, LCA4 LCA1 due to GUCY2D mutation also on 17p13.1 Autosomal recessive 604393 Cone-rod dystrophy 3 +604392 AIPL1 Arylhydrocarbon-interacting receptor protein-like 1 ENSG00000129221 AIPL1, LCA4 LCA1 due to GUCY2D mutation also on 17p13.1 Autosomal recessive 604393 Leber congenital amaurosis 4 3 +604392 AIPL1 Arylhydrocarbon-interacting receptor protein-like 1 ENSG00000129221 AIPL1, LCA4 LCA1 due to GUCY2D mutation also on 17p13.1 Autosomal recessive 604393 Retinitis pigmentosa, juvenile 3 +608921 PITPNM3 Phosphatidylinositol transfer protein, membrane-associated, 3 ENSG00000091622 PITPNM3, NIR1, CORD5 Autosomal dominant 600977 Cone-rod dystrophy 5 3 +613776 Chromosome 17p13.1 deletion syndrome DEL17p13.1, C17DELp13.1 contiguous gene deletion syndrome Autosomal dominant 613776 Chromosome 17p13.1 deletion syndrome 4 +617112 KIAA0753 KIAA0753 gene ENSG00000198920 KIAA0753, OFIP, OFD15 mutation identified in 1 OFD15 patient Autosomal recessive 617127 ?Orofaciodigital syndrome XV 3 +608305 SLC13A5 Solute carrier family 13 (sodium-dependent citrate transporter), member 5 ENSG00000141485 SLC13A5, NACT, EIEE25 Autosomal recessive 615905 Epileptic encephalopathy, early infantile, 25 3 +609575 ACADVL Acyl-Coenzyme A dehydrogenase, very long chain ENSG00000072778 ACADVL, VLCAD Autosomal recessive 201475 VLCAD deficiency 3 +100710 CHRNB1 Cholinergic receptor, nicotinic, beta polypeptide-1, muscle ENSG00000170175 CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C mutation identified in 1 CMS2C family Autosomal dominant 616313 Myasthenic syndrome, congenital, 2A, slow-channel 3 +100710 CHRNB1 Cholinergic receptor, nicotinic, beta polypeptide-1, muscle ENSG00000170175 CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C mutation identified in 1 CMS2C family Autosomal recessive 616314 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 3 +604041 MPDU1 Mannose-P-dolichol utilization defect 1 ENSG00000129255 MPDU1, SL15, CDGIF Autosomal recessive 609180 Congenital disorder of glycosylation, type If 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal recessive 202300 Adrenal cortical carcinoma 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 614740 Basal cell carcinoma 7 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant 114480 Breast cancer 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant 260500 Choroid plexus papilloma 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant 114500 Colorectal cancer 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant, Somatic mutation 137800 Glioma susceptibility 1 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Somatic mutation 114550 Hepatocellular carcinoma 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant 151623 Li-Fraumeni syndrome 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 607107 Nasopharyngeal carcinoma 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal recessive 259500 Osteosarcoma 3 +191170 TP53 Tumor protein p53 ENSG00000141510 TP53, P53, LFS1 , BCC7 Autosomal dominant, Somatic mutation, Multifactorial 260350 Pancreatic cancer 3 +612661 WRAP53 WD repeat-containing protein antisense to TP53 ENSG00000141499 WRAP53, TCAB1, WDR79, DKCB3 Autosomal recessive 613988 Dyskeratosis congenita, autosomal recessive 3 3 +600179 GUCY2D Guanylate cyclase 2D, membrane, retina-specific ENSG00000132518 GUCY2D, GUC2D, LCA1, CORD6, RCD2 LCA4 due to Aipl1 mutation also on 17p13.1 Autosomal dominant 601777 Cone-rod dystrophy 6 3 +600179 GUCY2D Guanylate cyclase 2D, membrane, retina-specific ENSG00000132518 GUCY2D, GUC2D, LCA1, CORD6, RCD2 LCA4 due to Aipl1 mutation also on 17p13.1 Autosomal recessive 204000 Leber congenital amaurosis 1 3 +603741 ALOX12B Archidonate 12-lipoxygenase, R type ENSG00000179477 ALOX12B, ARCI2 Autosomal recessive 242100 Ichthyosis, congenital, autosomal recessive 2 3 +607206 ALOXE3 Arachidonate lipoxygenase 3 ENSG00000179148 ALOXE3, ARCI3 Autosomal recessive 606545 Ichthyosis, congenital, autosomal recessive 3 3 +608059 HES7 Hairy/enhancer of split, Drosophila, homolog of, 7 ENSG00000179111 HES7, SCDO4 Autosomal recessive 613686 Spondylocostal dysostosis 4, autosomal recessive 3 +613129 CTC1 Conserved telomere maintenance component 1 ENSG00000178971 CTC1, CRMCC, C17orf68, AAF132 Autosomal recessive 612199 Cerebroretinal microangiopathy with calcifications and cysts 3 +603704 RPL26 Ribosomal protein L26 ENSG00000161970 RPL26, DBA11 mutation identified in 1 family Autosomal dominant 614900 ?Diamond-Blackfan anemia 11 3 +611317 PIK3R5 Phosphatidylinositol 3-kinase, regulatory subunit 5 ENSG00000141506 PIK3R5, p101 Autosomal recessive 615217 Ataxia-oculomotor apraxia 3 3 +160741 MYH8 Myosin, heavy polypeptide-8, skeletal muscle, perinatal ENSG00000133020 MYH8, DA7 608837 Carney complex variant 3 +160741 MYH8 Myosin, heavy polypeptide-8, skeletal muscle, perinatal ENSG00000133020 MYH8, DA7 Autosomal dominant 158300 Trismus-pseudocamptodactyly syndrome 3 +160740 MYH2 Myosin, heavy polypeptide-2, skeletal muscle, adult ENSG00000125414 MYH2, MYPOP Autosomal recessive, Autosomal dominant 605637 Proximal myopathy and ophthalmoplegia 3 +160720 MYH3 Myosin, heavy polypeptide-3, skeletal muscle, embryonic ENSG00000109063 MYH3, DA2A, DA2B, DA8 Autosomal dominant 193700 Arthrogryposis, distal, type 2A 3 +160720 MYH3 Myosin, heavy polypeptide-3, skeletal muscle, embryonic ENSG00000109063 MYH3, DA2A, DA2B, DA8 Autosomal dominant 601680 Arthrogryposis, distal, type 2B 3 +160720 MYH3 Myosin, heavy polypeptide-3, skeletal muscle, embryonic ENSG00000109063 MYH3, DA2A, DA2B, DA8 Autosomal dominant 178110 Arthrogryposis, distal, type 8 3 +603644 SCO1 SCO1 cytochrome c oxidase assembly protein ENSG00000133028 SCO1, SCOD1 Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +605572 Abdominal obesity-metabolic syndrome QTL2 AOMS2 second QTL on 3q27 Autosomal dominant 605572 Abdominal obesity-metabolic syndrome 2 +613392 DFNB85 Deafness, autosomal recessive 85 DFNB85 between rs230884 and rs12603885 Autosomal recessive 613392 Deafness, autosomal recessive 85 2 +614928 Ectodermal dysplasia 6, hair/nail type ECTD6 between D17S839 and D17S1299 Autosomal recessive 614928 Ectodermal dysplasia 6, hair/nail type 2 +616652 Yuan-Harel-Lupski syndrome YUHAL contiguous gene duplication syndrome Autosomal dominant 616652 Yuan-Harel-Lupski syndrome 4 +605367 ELAC2 elaC, E. coli, homolog 2 ENSG00000006744 ELAC2, HPC2, COXPD17 at ~365cR Autosomal recessive 615440 Combined oxidative phosphorylation deficiency 17 3 +605367 ELAC2 elaC, E. coli, homolog 2 ENSG00000006744 ELAC2, HPC2, COXPD17 at ~365cR 614731 Prostate cancer, hereditary, 2, susceptibility to 3 +602125 COX10 Cytochrome c oxidase, subunit X ENSG00000006695 COX10 Autosomal recessive, Mitochondrial 256000 Leigh syndrome due to mitochondrial COX4 deficiency 3 +602125 COX10 Cytochrome c oxidase, subunit X ENSG00000006695 COX10 Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS Autosomal dominant 118220 Charcot-Marie-Tooth disease, type 1A 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS Autosomal dominant 118300 Charcot-Marie-Tooth disease, type 1E 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS Autosomal recessive, Autosomal dominant 145900 Dejerine-Sottas disease 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS ?Autosomal dominant 139393 Neuropathy, inflammatory demyelinating 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS Autosomal dominant 162500 Neuropathy, recurrent, with pressure palsies 3 +601097 PMP22 Peripheral myelin protein-22 ENSG00000109099 PMP22, CMT1A, CMT1E, DSS Autosomal dominant 180800 Roussy-Levy syndrome 3 +613814 TTC19 Tetratricopeptide repeat domain 19 ENSG00000011295 TTC19, MC3DN2 Autosomal recessive 615157 Mitochondrial complex III deficiency, nuclear type 2 3 +608904 Attention deficit-hyperactivity disorder, susceptibility to, 2 ADHD2 Autosomal dominant 143465 Attention deficit-hyperactivity disorder 2 +607354 Scoliosis, idiopathic 2 IS2, AIS2 between D17S947 and D17S798 607354 Scoliosis, idiopathic 2 2 +610883 Potocki-Lupski syndrome PTLS contiguous gene syndrome Isolated cases 610883 Potocki-Lupski syndrome 4 +605947 PIGL Phosphatidylinositol glycan, class L ENSG00000108474 PIGL, CHIME Autosomal recessive 280000 CHIME syndrome 3 +191339 UBB Ubiquitin B ENSG00000170315 UBB Autosomal dominant 119540 Cleft palate, isolated 2 +604907 TNFRSF13B Tumor necrosis factor receptor superfamily, member 13B ENSG00000240505 TNFRSF13B, TACI, CVID2 Autosomal recessive, Autosomal dominant 240500 Immunodeficiency, common variable, 2 3 +604907 TNFRSF13B Tumor necrosis factor receptor superfamily, member 13B ENSG00000240505 TNFRSF13B, TACI, CVID2 609529 Immunoglobulin A deficiency 2 3 +607273 FLCN Folliculin ENSG00000154803 FLCN, BHD Autosomal dominant 135150 Birt-Hogg-Dube syndrome 3 +607273 FLCN Folliculin ENSG00000154803 FLCN, BHD 114500 Colorectal cancer, somatic 3 +607273 FLCN Folliculin ENSG00000154803 FLCN, BHD Autosomal dominant 173600 Pneumothorax, primary spontaneous 3 +607273 FLCN Folliculin ENSG00000154803 FLCN, BHD 144700 Renal carcinoma, chromophobe, somatic 3 +607642 RAI1 Retinoic acid-induced gene 1 ENSG00000108557 RAI1, SMCR, SMS Autosomal dominant, Isolated cases 182290 Smith-Magenis syndrome 3 +608918 ATPAF2 ATP synthase, mitochondrial F1 complex, assembly factor 2 ENSG00000171953 ATPAF2, ATP12, MC5DN1 Autosomal recessive 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 3 +602666 MYO15A Myosin XVA ENSG00000091536 MYO15A, DFNB3 Autosomal recessive 600316 Deafness, autosomal recessive 3 3 +614144 B9D1 B9 domain-containing protein 1 ENSG00000108641 B9D1, MKSR1, MKS9, JBTS27 mutation identified in 1 MKS9 patient 617120 Joubert syndrome 27 3 +614144 B9D1 B9 domain-containing protein 1 ENSG00000108641 B9D1, MKSR1, MKS9, JBTS27 mutation identified in 1 MKS9 patient Autosomal recessive 614209 ?Meckel syndrome 9 3 +609523 ALDH3A2 Aldehyde dehydrogenase 3 family, member A2 (fatty aldehyde dehydrogenase) ENSG00000072210 ALDH3A2, ALDH10, SLS, FALDH Autosomal recessive 270200 Sjogren-Larsson syndrome 3 +604694 AKAP10 A-kinase anchor protein 10 ENSG00000108599 AKAP10 Autosomal dominant 115080 Cardiac conduction defect, susceptibility to 3 +613236 KCNJ18 Potassium channel, inwardly rectifying, subfamily J, member 18 ENSG00000260458 KCNJ18, KIR2.6, TTPP2 Isolated cases 613239 Thyrotoxic periodic paralysis, susceptibility to, 2 3 +609378 Autism, susceptibility to, 6 AUTS6 max lod at D17S1800 609378 Autism susceptibility 6 2 +603918 Hypertension, essential, susceptibility to, 1 HYT1 ~18cM distal to ACE Multifactorial 145500 Hypertension, essential, susceptibility to, 1 2 +601395 CCL3L1 Chemokine, C-C motif, ligand 3-like 1 ENSG00000277336 CCL3L1, SCYA3L1, LD78 varies in copy number 1-10 609423 HIV/AIDS, susceptibility to 3 +613675 Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion syndrome) DEL17q11.2, C17DELq11.2 Autosomal dominant 613675 Chromosome 17q11.2 deletion syndrome, 1.4Mb 4 +154275 MHS2 Malignant hyperthermia susceptibility 2 MHS2 ?due to mutation in SCN4A Autosomal dominant 154275 Malignant hyperthermia susceptibility 2 2 +612575 Mean platelet volume quantitative trait locus 3 MPVQTL3 associated with rs2138852 612575 Mean platelet volume QTL3 2 +163730 NOS2 Nitric oxide synthase 2A, inducible, hepatocytes ENSG00000007171 NOS2A, NOS2 ?cluster of 3 NOS2 genes Multifactorial 145500 Hypertension, susceptibility to 2 +163730 NOS2 Nitric oxide synthase 2A, inducible, hepatocytes ENSG00000007171 NOS2A, NOS2 ?cluster of 3 NOS2 genes 611162 Malaria, resistance to 3 +616815 TMEM199 Transmembrane protein 199 ENSG00000244045 TMEM199, VMA12, VPH2, C17orf32, CDG2P Autosomal recessive 616829 Congenital disorder of glycosylation, type IIp 3 +611672 SLC46A1 Solute carrier family 46 (folate transporter), member 1 ENSG00000076351 SLC46A1, HCP1, PCFT Autosomal recessive 229050 Folate malabsorption, hereditary 3 +600838 FOXN1 Forkhead box N1 (winged helix nude) ENSG00000109101 FOXN1, WHN Autosomal recessive 601705 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 3 +604011 UNC119 Unc119, C. elegans, homolog of (human retinal gene 4) ENSG00000109103 UNC119, HRG4, IMD13 mutation identified in 1 IMD13 family and CORD family ?Cone-rod dystrophy 3 +604011 UNC119 Unc119, C. elegans, homolog of (human retinal gene 4) ENSG00000109103 UNC119, HRG4, IMD13 mutation identified in 1 IMD13 family and CORD family Autosomal dominant 615518 ?Immunodeficiency 13 3 +609799 NEK8 Never in mitosis gene A-related kinase 8 ENSG00000160602 NEK8, JCK, NPHP9, RHPD2 mutations identified in 1 family each with RHPD2 and NPHP9 613824 ?Nephronophthisis 9 3 +609799 NEK8 Never in mitosis gene A-related kinase 8 ENSG00000160602 NEK8, JCK, NPHP9, RHPD2 mutations identified in 1 family each with RHPD2 and NPHP9 Autosomal recessive 615415 ?Renal-hepatic-pancreatic dysplasia 2 3 +123610 CRYBA1 Crystallin, beta A1 ENSG00000108255 CRYBA1, CRYB1, CTRCT10 centromeric to NF1 Autosomal dominant 600881 Cataract 10, multiple types 3 +182138 SLC6A4 Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ENSG00000108576 SLC6A4, HTT, OCD1 607834 Anxiety-related personality traits 3 +182138 SLC6A4 Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ENSG00000108576 SLC6A4, HTT, OCD1 Autosomal dominant 164230 Obsessive-compulsive disorder 3 +611358 RNF135 Ring finger protein 135 ENSG00000181481 RNF135, MMFD 614192 Macrocephaly, macrosomia, facial dysmorphism syndrome 3 +613113 NF1 Neurofibromin (neurofibromatosis, type I) ENSG00000196712 NF1, VRNF, WSS, NFNS Autosomal dominant, Somatic mutation 607785 Leukemia, juvenile myelomonocytic 3 +613113 NF1 Neurofibromin (neurofibromatosis, type I) ENSG00000196712 NF1, VRNF, WSS, NFNS Autosomal dominant 162210 Neurofibromatosis, familial spinal 3 +613113 NF1 Neurofibromin (neurofibromatosis, type I) ENSG00000196712 NF1, VRNF, WSS, NFNS Autosomal dominant 162200 Neurofibromatosis, type 1 3 +613113 NF1 Neurofibromin (neurofibromatosis, type I) ENSG00000196712 NF1, VRNF, WSS, NFNS Autosomal dominant 601321 Neurofibromatosis-Noonan syndrome 3 +613113 NF1 Neurofibromin (neurofibromatosis, type I) ENSG00000196712 NF1, VRNF, WSS, NFNS Autosomal dominant 193520 Watson syndrome 3 +615949 TMEM98 Transmembrane protein 98 ENSG00000006042 TMEM98, NNO4 Autosomal dominant 615972 Nanophthalmos 4 3 +614527 Chromosome 17q12 deletion syndrome DEL17q12, C17DELq12 Autosomal dominant 614527 Chromosome 17q12 deletion syndrome 4 +614526 Chromosome 17q12 duplication syndrome DUP17q12, C17DUPq12 Autosomal dominant 614526 Chromosome 17q12 duplication syndrome 4 +611955 Prostate cancer, hereditary, 11 HPC11 associated with rs4430796 and rs7501939 611955 Prostate cancer, hereditary, 11 2 +614221 Biliary cirrhosis, primary, 5 PBC5 associated with rs9303277 614221 Biliary cirrhosis, primary, 5 2 +601363 Wilms tumor-4 WT4 Autosomal dominant 601363 Wilms tumor, type 4 2 +158105 CCL2 Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) ENSG00000108691 CCL2, SCYA2, MCP1, MCAF Coronary artery disease, modifier of 3 +158105 CCL2 Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) ENSG00000108691 CCL2, SCYA2, MCP1, MCAF 609423 HIV-1, resistance to 3 +158105 CCL2 Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) ENSG00000108691 CCL2, SCYA2, MCP1, MCAF 607948 Mycobacterium tuberculosis, susceptibility to 3 +158105 CCL2 Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) ENSG00000108691 CCL2, SCYA2, MCP1, MCAF Autosomal dominant 182940 Spina bifida, susceptibility to 3 +601156 CCL11 Chemokine, C-C motif, ligand 11 ENSG00000172156 CCL11, SCYA11 Autosomal dominant 600807 Asthma, susceptibility to 3 +601156 CCL11 Chemokine, C-C motif, ligand 11 ENSG00000172156 CCL11, SCYA11 609423 HIV1, resistance to 3 +602954 RAD51D RAD51, S. cerevisiae, homolog of, D ENSG00000185379 RAD51D, RAD51L3, BROVCA4 614291 Breast-ovarian cancer, familial, susceptibility to, 4 3 +611220 UNC45B UNC45, C. elegans, homolog of, B ENSG00000141161 UNC45B, SMUNC45, CTRCT43 mutation identified in 1 CTRCT43 family Autosomal dominant 616279 ?Cataract 43 3 +614958 SLFN14 Schlafen family, member 14 ENSG00000236320 SLFN14, BDPLT20 Autosomal dominant 616913 Bleeding disorder, platelet-type, 20 3 +601758 PEX12 Peroxisome biogenesis factor 12 ENSG00000108733 PEX12, PBD3A 614859 Peroxisome biogenesis disorder 3A (Zellweger) 3 +601758 PEX12 Peroxisome biogenesis factor 12 ENSG00000108733 PEX12, PBD3A Autosomal recessive 266510 Peroxisome biogenesis disorder 3B 3 +601574 TAF15 TAF15 RNA polymerase II, TATA box-binding protein-associated factor, 68kD ENSG00000270647 TAF15, TAF2N, RBP56 fusion gene with CSMF 612237 Chondrosarcoma, extraskeletal myxoid 1 +187011 CCL5 Chemokine, C-C motif, ligand 5 ENSG00000274233 CCL5, SCYA5, D17S136E, TCP228 HIV-1 disease, delayed progression of 3 +187011 CCL5 Chemokine, C-C motif, ligand 5 ENSG00000274233 CCL5, SCYA5, D17S136E, TCP228 HIV-1 disease, rapid progression of 3 +182283 CCL3 Chemokine, C-C motif, ligand 3 ENSG00000274221 CCL3, SCYA3, MIP1A in 47kb, CCL18-CCL3-CCL4 609423 HIV infection, resistance to 2 +610275 PIGW Phosphatidylinositol glycan, class W ENSG00000275600 PIGW, HPMRS5 mutation identified in 1 HPMRS5 patient Autosomal recessive 616025 ?Hyperphosphatasia with mental retardation syndrome 5 3 +200350 ACACA Acetyl-Coenzyme A carboxylase, alpha ENSG00000278540 ACACA, ACAC, ACC1, ACACAD proximal to q21.33; others put at 17q12 Autosomal recessive 613933 Acetyl-CoA carboxylase deficiency 1 +189907 HNF1B HNF1 homeobox B (transcription factor 2) ENSG00000275410 HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +189907 HNF1B HNF1 homeobox B (transcription factor 2) ENSG00000275410 HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 144700 Renal cell carcinoma 3 +189907 HNF1B HNF1 homeobox B (transcription factor 2) ENSG00000275410 HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 Autosomal dominant 137920 Renal cysts and diabetes syndrome 3 +614515 GPR179 G protein-coupled receptor 179 ENSG00000276469 GPR179, GPR158L, GPR158L1, CSNB1E Autosomal recessive 614565 Night blindness, congenital stationary (complete), 1E, autosomal recessive 3 +604488 TCAP Telethonin ENSG00000173991 TCAP, LGMD2G, CMH25 Autosomal dominant 607487 Cardiomyopathy, hypertrophic, 25 3 +604488 TCAP Telethonin ENSG00000173991 TCAP, LGMD2G, CMH25 Autosomal recessive 601954 Muscular dystrophy, limb-girdle, type 2G 3 +611801 PGAP3 Post-GPI attachment to proteins 3 ENSG00000161395 PGAP3, PERLD1, CAB2, MGC9753, HPMRS4 Autosomal recessive 615716 Hyperphosphatasia with mental retardation syndrome 4 3 +164870 ERBB2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ENSG00000141736 ERBB2, NGL, NEU, HER2 211980 Adenocarcinoma of lung, somatic 3 +164870 ERBB2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ENSG00000141736 ERBB2, NGL, NEU, HER2 613659 Gastric cancer, somatic 3 +164870 ERBB2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ENSG00000141736 ERBB2, NGL, NEU, HER2 137800 Glioblastoma, somatic 3 +164870 ERBB2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ENSG00000141736 ERBB2, NGL, NEU, HER2 Ovarian cancer, somatic 3 +611403 Asthma-related traits, susceptibility to, 6 ASRT6 strongly associated with rs7216389 611403 Asthma-related traits, susceptibility to, 6 2 +610676 Autism, susceptibility to, 7 AUTS7 max lod at D17S2180 610676 Autism susceptibility 7 2 +610997 Prostate cancer, hereditary, 9 HPC9 max LOD at D17S1820 610997 Prostate cancer, hereditary, 9 2 +608474 MYP5 Myopia 5 MYP5 between D17S787 and D17S1811 Autosomal dominant 608474 Myopia 5 2 +168860 PTLAH Patella aplasia or hypoplasia PTLAH, FPAH Autosomal dominant 168860 Patella aplasia or hypoplasia 2 +190120 THRA Thyroid hormone receptor, alpha (oncogene ERBA1) ENSG00000126351 THRA, ERBA1, THRA1, CHNG6 Autosomal dominant 614450 Hypothyroidism, congenital, nongoitrous, 6 3 +612380 Inflammatory bowel disease 22 IBD22 associated with rs744166 612380 Inflammatory bowel disease 22 2 +602627 CDC6 Cell division cycle 6, S. cerevisiae, homolog of ENSG00000094804 CDC6, CDC18L, MGORS5 mutation identified in 1 MGORS5 patient Autosomal recessive 613805 ?Meier-Gorlin syndrome 5 3 +180240 RARA Retinoic acid receptor, alpha polypeptide ENSG00000131759 RARA fused with MYL in APL 612376 Leukemia, acute promyelocytic 1 +126430 TOP2A Topoisomerase (DNA) II, alpha, 170kD ENSG00000131747 TOP2A, TOP2 DNA topoisomerase II, resistance to inhibition of, by amsacrine 3 +603111 SMARCE1 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 ENSG00000073584 SMARCE1, BAF57, CSS5 Autosomal dominant 616938 Coffin-Siris syndrome 5 3 +603111 SMARCE1 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 ENSG00000073584 SMARCE1, BAF57, CSS5 Autosomal dominant 607174 Meningioma, familial, susceptibility to 3 +616646 KRT25 Keratin 25, type I ENSG00000204897 KRT25, K25, KRT24IRS1, ARWH3 Autosomal recessive 616760 Woolly hair, autosomal recessive 3 3 +148080 KRT10 Keratin 10 ENSG00000186395 KRT10, EHK, BCIE, BIE in cluster of class I keratins Autosomal dominant 113800 Epidermolytic hyperkeratosis 3 +148080 KRT10 Keratin 10 ENSG00000186395 KRT10, EHK, BCIE, BIE in cluster of class I keratins Autosomal dominant 609165 Ichthyosis with confetti 3 +148080 KRT10 Keratin 10 ENSG00000186395 KRT10, EHK, BCIE, BIE in cluster of class I keratins Autosomal dominant 607602 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 3 +601687 KRT12 Keratin 12 ENSG00000263243 KRT12 Autosomal dominant 122100 Meesmann corneal dystrophy 3 +148065 KRT13 Keratin 13 ENSG00000171401 KRT13, WSN2 in same PFGE fragment as KRT10, KRT15 Autosomal dominant 615785 White sponge nevus 2 3 +607606 KRT9 Keratin 9 ENSG00000171403 KRT9, EPPK Autosomal dominant 144200 Palmoplantar keratoderma, epidermolytic 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal dominant 125595 Dermatopathia pigmentosa reticularis 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal dominant 131760 Epidermolysis bullosa simplex, Dowling-Meara type 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal dominant 131900 Epidermolysis bullosa simplex, Koebner type 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal dominant 131800 Epidermolysis bullosa simplex, Weber-Cockayne type 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal recessive 601001 Epidermolysis bullosa simplex, recessive 1 3 +148066 KRT14 Keratin 14 ENSG00000186847 KRT14 Autosomal dominant 161000 Naegeli-Franceschetti-Jadassohn syndrome 3 +148067 KRT16 Keratin 16 ENSG00000186832 KRT16, FNEPPK, PC1 probably 17q21-q22 Autosomal dominant 167200 Pachyonychia congenita 1 3 +148067 KRT16 Keratin 16 ENSG00000186832 KRT16, FNEPPK, PC1 probably 17q21-q22 Autosomal dominant 613000 Palmoplantar keratoderma, nonepidermolytic, focal 3 +148069 KRT17 Keratin 17 ENSG00000128422 KRT17, PC2, PCHC1 ~5' to KRT16; probably 17q21-q22 Autosomal dominant 167210 Pachyonychia congenita 2 3 +148069 KRT17 Keratin 17 ENSG00000128422 KRT17, PC2, PCHC1 ~5' to KRT16; probably 17q21-q22 Autosomal dominant 184500 Steatocystoma multiplex 3 +173325 JUP Junction plakoglobin ENSG00000173801 JUP, DP3, PDGB, ARVD12 incorrectly mapped to 7; close to BRCA1 Autosomal dominant 611528 Arrhythmogenic right ventricular dysplasia 12 3 +173325 JUP Junction plakoglobin ENSG00000173801 JUP, DP3, PDGB, ARVD12 incorrectly mapped to 7; close to BRCA1 Autosomal recessive 601214 Naxos disease 3 +607063 FKBP10 FK506-binding protein 10 ENSG00000141756 FKBP10, FKBP65, OI11, BRKS1 Autosomal recessive 259450 Bruck syndrome 1 3 +607063 FKBP10 FK506-binding protein 10 ENSG00000141756 FKBP10, FKBP65, OI11, BRKS1 Autosomal recessive 610968 Osteogenesis imperfecta, type XI 3 +608778 KLHL10 Kelch-like 10 ENSG00000161594 KLHL10, SPGF11 Autosomal dominant 615081 Spermatogenic failure 11 3 +617095 TTC25 Tetratricopeptide repeat domain-containing protein 25 ENSG00000204815 TTC25, CILD35 Autosomal recessive 617092 Ciliary dyskinesia, primary, 35 3 +602358 HCRT Hypocretin ENSG00000161610 HCRT, OX, NRCLP1 mutation identified in 1 NRCLP1 patient Autosomal dominant 161400 ?Narcolepsy 1 3 +604260 STAT5B Signal transducer and activator of transcription 5B ENSG00000173757 STAT5B fused with RARA in PML 245590 Growth hormone insensitivity with immunodeficiency 3 +604260 STAT5B Signal transducer and activator of transcription 5B ENSG00000173757 STAT5B fused with RARA in PML 102578 Leukemia, acute promyelocytic, somatic 3 +102582 STAT3 Signal transducer and activator of transcription-3 (acute-phase response factor) ENSG00000168610 STAT3, APRF, HIES, ADMIO1 Autosomal dominant 615952 Autoimmune disease, multisystem, infantile-onset, 1 3 +102582 STAT3 Signal transducer and activator of transcription-3 (acute-phase response factor) ENSG00000168610 STAT3, APRF, HIES, ADMIO1 Autosomal dominant 147060 Hyper-IgE recurrent infection syndrome 3 +603198 PTRF RNA polymerase I and transcript release factor ENSG00000177469 PTRF, CAVIN, CGL4 Autosomal recessive 613327 Lipodystrophy, congenital generalized, type 4 3 +609701 NAGLU N-acetylglucosaminidase, alpha- ENSG00000108784 NAGLU, MPS3B, CMT2V mutation identified in 1 CMT2V family Autosomal dominant 616491 ?Charcot-Marie-Tooth disease, axonal, type 2V 3 +609701 NAGLU N-acetylglucosaminidase, alpha- ENSG00000108784 NAGLU, MPS3B, CMT2V mutation identified in 1 CMT2V family Autosomal recessive 252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 3 +609855 COASY Coenzyme A synthase ENSG00000068120 COASY, NBIA6 Autosomal recessive 615643 Neurodegeneration with brain iron accumulation 6 3 +608665 PSMC3IP PSMC3-interacting protein ENSG00000131470 PSMC3IP, TBPIP, GT198, HOP2, ODG3 Autosomal recessive 614324 Ovarian dysgenesis 3 3 +191135 TUBG1 Tubulin, gamma 1 ENSG00000131462 TUBG1, CDCBM4 Autosomal dominant 615412 Cortical dysplasia, complex, with other brain malformations 4 3 +602346 CNTNAP1 Contactin-associated protein 1 ENSG00000108797 CNTNAP1, CASPR, P190 Autosomal recessive 616286 Lethal congenital contracture syndrome 7 3 +601844 WNK4 WNK lysine deficient protein kinase 4 ENSG00000126562 WNK4, PRKWNK4, PHA2B Autosomal dominant 614491 Pseudohypoaldosteronism, type IIB 3 +615674 Dowling-Degos disease 3 DDD3 max lod at D17S1529 Autosomal dominant 615674 Dowling-Degos disease 3 2 +613533 Chromosome 17q21.31 duplication syndrome DUP17q21.31, C17DUPq21.31 contiguous gene duplication syndrome 613533 Chromosome 17q21.31 duplication syndrome 4 +615162 Mental retardation, autosomal recessive 35 MRT35 between rs4792947 and rs11079258 Autosomal recessive 615162 Mental retardation, autosomal recessive 35 2 +613742 G6PC Glucose-6-phosphatase, catalytic ENSG00000131482 G6PC, G6PT Autosomal recessive 232200 Glycogen storage disease Ia 3 +113705 BRCA1 Breast cancer-1 gene ENSG00000012048 BRCA1, PSCP, BROVCA1, PNCA4 Autosomal dominant, Multifactorial 604370 Breast-ovarian cancer, familial, 1 3 +113705 BRCA1 Breast cancer-1 gene ENSG00000012048 BRCA1, PSCP, BROVCA1, PNCA4 614320 Pancreatic cancer, susceptibility to, 4 3 +600147 MEOX1 Mesenchyme homeo box 1 (Mox1, mouse, homolog of) ENSG00000005102 MEOX1, MOX1, KFS2 Autosomal recessive 214300 Klippel-Feil syndrome 2 3 +605740 SOST Sclerostin ENSG00000167941 SOST, VBCH, CDD, SOST1 Autosomal dominant 122860 Craniodiaphyseal dysplasia, autosomal dominant 3 +605740 SOST Sclerostin ENSG00000167941 SOST, VBCH, CDD, SOST1 Autosomal recessive 269500 Sclerosteosis 1 3 +605740 SOST Sclerostin ENSG00000167941 SOST, VBCH, CDD, SOST1 Autosomal recessive 239100 Van Buchem disease 3 +608300 NAGS N-acetylglutamate synthase ENSG00000161653 NAGS Autosomal recessive 237310 N-acetylglutamate synthase deficiency 3 +611045 G6PC3 Glucose-6-phosphatase, catalytic, 3 ENSG00000141349 G6PC3, UGRP, SCN4 Autosomal recessive 612541 Dursun syndrome 3 +611045 G6PC3 Glucose-6-phosphatase, catalytic, 3 ENSG00000141349 G6PC3, UGRP, SCN4 Autosomal recessive 612541 Neutropenia, severe congenital 4, autosomal recessive 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 110500 Blood group, Diego 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 601551 Blood group, Froese 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 601550 Blood group, Swann 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 112010 Blood group, Waldner 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 112050 Blood group, Wright 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Autosomal dominant 185020 Cryohydrocytosis 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC 611162 Malaria, resistance to 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Autosomal dominant 166900 Ovalocytosis, SA type 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Autosomal dominant 179800 Renal tubular acidosis, distal, AD 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Autosomal recessive 611590 Renal tubular acidosis, distal, AR 3 +109270 SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ENSG00000004939 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Autosomal dominant 612653 Spherocytosis, type 4 3 +138945 GRN Granulin ENSG00000030582 GRN, CLN11 Autosomal dominant 607485 Aphasia, primary progressive 3 +138945 GRN Granulin ENSG00000030582 GRN, CLN11 Autosomal recessive 614706 Ceroid lipofuscinosis, neuronal, 11 3 +138945 GRN Granulin ENSG00000030582 GRN, CLN11 Autosomal dominant 607485 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 3 +607759 ITGA2B Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ENSG00000005961 ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16 3' to GP3A; BAK platelet antigen Autosomal dominant 187800 Bleeding disorder, platelet-type, 16, autosomal dominant 3 +607759 ITGA2B Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ENSG00000005961 ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16 3' to GP3A; BAK platelet antigen Autosomal recessive 273800 Glanzmann thrombasthenia 3 +607759 ITGA2B Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ENSG00000005961 ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16 3' to GP3A; BAK platelet antigen Thrombocytopenia, neonatal alloimmune, BAK antigen related 3 +603892 EFTUD2 Elongation factor Tu GTP-binding domain-containing 2 ENSG00000108883 EFTUD2, KIAA0031, MFDGA Autosomal dominant 610536 Mandibulofacial dysostosis, Guion-Almeida type 3 +614677 CCDC103 Coiled-coil domain-containing protein 103 ENSG00000214447 CCDC103, SMH, PR46B, CILD17 Autosomal recessive 614679 Ciliary dyskinesia, primary, 17 3 +137780 GFAP Glial fibrillary acidic protein ENSG00000131095 GFAP, ALXDRD Autosomal dominant 203450 Alexander disease 3 +611466 PLEKHM1 Pleckstrin homology domain-containing protein, family M, member 1 ENSG00000225190 PLEKHM1, AP162, KIAA0356, OPTB6 611497 Osteopetrosis, autosomal recessive 6 3 +157140 MAPT Microtubule-associated protein tau ENSG00000276155 MAPT, MTBT1, DDPAC, MSTD see 6p21 Autosomal dominant 600274 Dementia, frontotemporal, with or without parkinsonism 3 +157140 MAPT Microtubule-associated protein tau ENSG00000276155 MAPT, MTBT1, DDPAC, MSTD see 6p21 Isolated cases, Multifactorial 168600 Parkinson disease, susceptibility to 3 +157140 MAPT Microtubule-associated protein tau ENSG00000276155 MAPT, MTBT1, DDPAC, MSTD see 6p21 Autosomal dominant, Isolated cases 172700 Pick disease 3 +157140 MAPT Microtubule-associated protein tau ENSG00000276155 MAPT, MTBT1, DDPAC, MSTD see 6p21 Autosomal dominant 601104 Supranuclear palsy, progressive 3 +157140 MAPT Microtubule-associated protein tau ENSG00000276155 MAPT, MTBT1, DDPAC, MSTD see 6p21 Autosomal recessive 260540 Supranuclear palsy, progressive atypical 3 +612452 KANSL1 KAT8 regulatory NSL complex subunit 1 ENSG00000120071 KANSL1, KIAA1267, MSL1V1, KDVS Autosomal dominant 610443 Koolen-De Vries syndrome 3 +165330 WNT3 Wingless-type MMTV integration site family, member 3 ENSG00000108379 WNT3, INT4, TETAMS mutation identified in 1 TETAMS family Autosomal recessive 273395 ?Tetra-amelia syndrome 3 +604027 GOSR2 Golgi snap receptor complex member 2 ENSG00000108433 GOSR2, GS27, EPM6 Autosomal recessive 614018 Epilepsy, progressive myoclonic 6 3 +173470 ITGB3 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ENSG00000259207 ITGB3, GP3A, GT, BDPLT2, BDPLT16 in same 260kb fragment as GP2B; PL(A) platelet antigen Autosomal dominant 187800 Bleeding disorder, platelet-type, 16, autosomal dominant 3 +173470 ITGB3 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ENSG00000259207 ITGB3, GP3A, GT, BDPLT2, BDPLT16 in same 260kb fragment as GP2B; PL(A) platelet antigen Autosomal recessive 273800 Glanzmann thrombasthenia 3 +173470 ITGB3 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ENSG00000259207 ITGB3, GP3A, GT, BDPLT2, BDPLT16 in same 260kb fragment as GP2B; PL(A) platelet antigen 608446 Myocardial infarction, susceptibility to 3 +173470 ITGB3 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ENSG00000259207 ITGB3, GP3A, GT, BDPLT2, BDPLT16 in same 260kb fragment as GP2B; PL(A) platelet antigen Purpura, posttransfusion 3 +173470 ITGB3 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ENSG00000259207 ITGB3, GP3A, GT, BDPLT2, BDPLT16 in same 260kb fragment as GP2B; PL(A) platelet antigen Thrombocytopenia, neonatal alloimmune 3 +604895 TBX21 T-box 21 ENSG00000073861 TBX21, TBET Autosomal recessive 208550 Asthma and nasal polyps 3 +604895 TBX21 T-box 21 ENSG00000073861 TBX21, TBET Autosomal recessive 208550 Asthma, aspirin-induced, susceptibility to 3 +603287 PNPO Pyridoxamine 5'-phosphate oxidase ENSG00000108439 PNPO Autosomal recessive 610090 Pyridoxamine 5'-phosphate oxidase deficiency 3 +142968 HOXB1 Homeo box-B1 ENSG00000120094 HOXB1, HOX2I, HCFP3 Autosomal recessive 614744 Facial paresis, hereditary congenital, 3 3 +176705 PHB Prohibitin ENSG00000167085 PHB Autosomal dominant 114480 Breast cancer, susceptibility to 3 +601911 DLX4 Distal-less homeo box-4 ENSG00000108813 DLX4, DLX7, DLX8, OFC15 mutation identified in 1 OFC15 family Autosomal dominant 616788 ?Orofacial cleft 15 3 +600525 DLX3 Distal-less homeo box-3 ENSG00000064195 DLX3, TDO, AI4 Autosomal dominant 104510 Amelogenesis imperfecta, type IV 3 +600525 DLX3 Distal-less homeo box-3 ENSG00000064195 DLX3, TDO, AI4 Autosomal dominant 190320 Trichodontoosseous syndrome 3 +605025 ITGA3 Integrin, alpha-3 ENSG00000005884 ITGA3, CD49C, GAPB3, ILNEB Autosomal recessive 614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 3 +600119 SGCA Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin) ENSG00000108823 SGCA, ADL, DAG2, LGMD2D, DMDA2 Autosomal recessive 608099 Muscular dystrophy, limb-girdle, type 2D 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 166710 Bone mineral density variation QTL, osteoporosis 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 114000 Caffey disease 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 130000 Ehlers-Danlos syndrome, classic 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 130060 Ehlers-Danlos syndrome, type VIIA 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 166200 Osteogenesis imperfecta, type I 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 166210 Osteogenesis imperfecta, type II 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 259420 Osteogenesis imperfecta, type III 3 +120150 COL1A1 Collagen I, alpha-1 polypeptide ENSG00000108821 COL1A1, OI1, OI2, OI3, OI4, EDSC fused with PDGFB in DFPB Autosomal dominant 166220 Osteogenesis imperfecta, type IV 3 +608125 XYLT2 Xylosyltransferase 2 ENSG00000015532 XYLT2, XT2, SOS Autosomal recessive 264800 Pseudoxanthoma elasticum, modifier of severity of 3 +608125 XYLT2 Xylosyltransferase 2 ENSG00000015532 XYLT2, XT2, SOS Autosomal recessive 605822 Spondyloocular syndrome 3 +604065 CACNA1G Calcium channel, voltage-dependent, T type, alpha-1G subunit ENSG00000006283 CACNA1G, SCA42 Autosomal dominant 616795 Spinocerebellar ataxia 42 3 +156490 NME1 Non-metastatic cells 1, protein (NM23A) expressed in ENSG00000239672 NME1, NM23 Autosomal dominant, Isolated cases 256700 Neuroblastoma 3 +602991 NOG Noggin, mouse, homolog of ENSG00000183691 NOG, SYM1, SYNS1A Autosomal dominant 611377 Brachydactyly, type B2 3 +602991 NOG Noggin, mouse, homolog of ENSG00000183691 NOG, SYM1, SYNS1A Autosomal dominant 186500 Multiple synostoses syndrome 1 3 +602991 NOG Noggin, mouse, homolog of ENSG00000183691 NOG, SYM1, SYNS1A Autosomal dominant 184460 Stapes ankylosis with broad thumb and toes 3 +602991 NOG Noggin, mouse, homolog of ENSG00000183691 NOG, SYM1, SYNS1A Autosomal dominant 185800 Symphalangism, proximal, 1A 3 +602991 NOG Noggin, mouse, homolog of ENSG00000183691 NOG, SYM1, SYNS1A Autosomal dominant 186570 Tarsal-carpal coalition syndrome 3 +601440 DGKE Diacylglycerol kinase, epsilon, 64-kD ENSG00000153933 DGKE, NPHS7, AHUS7 Autosomal recessive 615008 Hemolytic uremic syndrome, atypical, susceptibility to, 7 3 +601440 DGKE Diacylglycerol kinase, epsilon, 64-kD ENSG00000153933 DGKE, NPHS7, AHUS7 Autosomal recessive 615008 Nephrotic syndrome, type 7 3 +131399 EPX Eosinophil peroxidase ENSG00000121053 EPX, EPXD Autosomal recessive 261500 Eosinophil peroxidase deficiency 3 +609883 MKS1 MKS1 gene ENSG00000011143 MKS1, MKS, BBS13, JBTS28 frequent in Finland Autosomal recessive 615990 Bardet-Biedl syndrome 13 3 +609883 MKS1 MKS1 gene ENSG00000011143 MKS1, MKS, BBS13, JBTS28 frequent in Finland 617121 Joubert syndrome 28 3 +609883 MKS1 MKS1 gene ENSG00000011143 MKS1, MKS, BBS13, JBTS28 frequent in Finland Autosomal recessive 249000 Meckel syndrome 1 3 +606989 MPO Myeloperoxidase ENSG00000005381 MPO translocated in t(15;17)(q22;q11.2) Autosomal dominant 104300 Alzheimer disease, susceptibility to 3 +606989 MPO Myeloperoxidase ENSG00000005381 MPO translocated in t(15;17)(q22;q11.2) Lung cancer, protection against, in smokers 3 +606989 MPO Myeloperoxidase ENSG00000005381 MPO translocated in t(15;17)(q22;q11.2) Autosomal recessive 254600 Myeloperoxidase deficiency 3 +612482 RNF43 Ring finger protein 43 ENSG00000108375 RNF43, RNF124, SSPCS Autosomal dominant 617108 Sessile serrated polyposis cancer syndrome 3 +602774 RAD51C RAD51, S. cerevisiae, homolog of, C ENSG00000108384 RAD51C, FANCO, BROVCA3 613399 Breast-ovarian cancer, familial, susceptibility to, 3 3 +602774 RAD51C RAD51, S. cerevisiae, homolog of, C ENSG00000108384 RAD51C, FANCO, BROVCA3 Autosomal recessive 613390 Fanconi anemia, complementation group O 3 +605073 TRIM37 Tripartite motif-containing 37 ENSG00000108395 TRIM37, MUL, KIAA0898 Autosomal recessive 253250 Mulibrey nanism 3 +609656 Bone size quantitative trait locus 1 BSZQTL 609656 Bone size QTL 2 +613355 Chromosome 17q23.1-q23.2 deletion syndrome DEL17q23.1q23.2, C17DELq23.1q23.2 Isolated cases 613355 Chromosome 17q23.1-q23.2 deletion syndrome 4 +613618 Chromosome 17q23.1-q23.2 duplication syndrome DUP17q23.1q23.2, C17DUPq23.1q23.2 2.2 Mb contiguous gene duplication syndrome Autosomal dominant 613618 Chromosome 17q23.1-q23.2 duplication syndrome 4 +608625 PTRH2 Peptidyl-tRNA hydrolase 2 ENSG00000141378 PTRH2, BIT1, IMNEPD Autosomal recessive 616263 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 3 +114760 CA4 Carbonic anhydrase IV ENSG00000167434 CA4, RP17 Autosomal dominant 600852 Retinitis pigmentosa 17 3 +612967 Body mass index quantitative trait locus 15 BMIQ15 associated with rs228883 and rs1005651 612967 Body mass index QTL 15 2 +605100 PPM1D Protein phosphatase, magnesium-dependent, 1, delta isoform ENSG00000170836 PPM1D, WIP1 amplified in breast cancer Autosomal dominant 114480 Breast cancer 3 +601719 TBX4 T-box 4 ENSG00000121075 TBX4, ICPPS Autosomal dominant 147891 Ischiocoxopodopatellar syndrome 3 +605882 BRIP1 BRCA1-associated C-terminal helicase 1 ENSG00000136492 BRIP1, BACH1, FANCJ ?or 17q23 Autosomal dominant 114480 Breast cancer, early-onset 3 +605882 BRIP1 BRCA1-associated C-terminal helicase 1 ENSG00000136492 BRIP1, BACH1, FANCJ ?or 17q23 609054 Fanconi anemia, complementation group J 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH Angiotensin I-converting enzyme, benign serum increase 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH 612624 Microvascular complications of diabetes 3 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH Myocardial infarction, susceptibility to 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH Autosomal recessive 267430 Renal tubular dysgenesis 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH SARS, progression of 3 +106180 ACE Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ENSG00000159640 ACE, DCP1, ACE1, MVCD3, ICH 614519 Stroke, hemorrhagic 3 +612958 TACO1 Translational activator of mitochondrially encoded cytochrome c oxidase subunit I ENSG00000136463 TACO1, CCDC44 Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +608626 STRADA STE20-related kinase adaptor alpha ENSG00000266173 STRADA, STRAD, LYK5 Autosomal recessive 611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy 3 +150200 CSH1 Chorionic somatomammotropin hormone-1 ENSG00000136488 CSH1, CSA, PL Placental lactogen deficiency 1 +139250 GH1 Growth hormone-1 ENSG00000259384 GH1, GHN, IGHD1B 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Autosomal recessive 262400 Growth hormone deficiency, isolated, type IA 3 +139250 GH1 Growth hormone-1 ENSG00000259384 GH1, GHN, IGHD1B 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' 612781 Growth hormone deficiency, isolated, type IB 3 +139250 GH1 Growth hormone-1 ENSG00000259384 GH1, GHN, IGHD1B 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Autosomal dominant 173100 Growth hormone deficiency, isolated, type II 3 +139250 GH1 Growth hormone-1 ENSG00000259384 GH1, GHN, IGHD1B 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Autosomal recessive 262650 Kowarski syndrome 3 +147245 CD79B CD79B antigen ENSG00000007312 CD79B, IGB, B29, AGM6 Autosomal recessive 612692 Agammaglobulinemia 6 3 +603967 SCN4A Sodium channel, voltage-gated, type IV, alpha polypeptide ENSG00000007314 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 21.5kb from GH1 Autosomal dominant 170500 Hyperkalemic periodic paralysis, type 2 3 +603967 SCN4A Sodium channel, voltage-gated, type IV, alpha polypeptide ENSG00000007314 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 21.5kb from GH1 Autosomal dominant 613345 Hypokalemic periodic paralysis, type 2 3 +603967 SCN4A Sodium channel, voltage-gated, type IV, alpha polypeptide ENSG00000007314 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 21.5kb from GH1 Autosomal recessive 614198 Myasthenic syndrome, congenital, 16 3 +603967 SCN4A Sodium channel, voltage-gated, type IV, alpha polypeptide ENSG00000007314 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 21.5kb from GH1 Autosomal dominant 608390 Myotonia congenita, atypical, acetazolamide-responsive 3 +603967 SCN4A Sodium channel, voltage-gated, type IV, alpha polypeptide ENSG00000007314 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 21.5kb from GH1 Autosomal dominant 168300 Paramyotonia congenita 3 +604983 POLG2 Polymerase, DNA, gamma-2 ENSG00000256525 POLG2, POLGB, PEOA4 Autosomal dominant 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 3 +115660 CCA1 Cataract 7 CTRCT7, CCA1 Autosomal dominant 115660 Cataract 7 2 +616425 46,XY sex reversal 10 SRXY10 deletion of 32.5kb XYSR regulatory region upstream of SOX9 Autosomal dominant 616425 46XY sex reversal 10 4 +604067 RGS9 Regulator of G protein signaling 9 ENSG00000108370 RGS9, PERRS 608415 Bradyopsia 3 +604025 AXIN2 Axis inhibitor 2 (conductin, mouse, homolog of) ENSG00000168646 AXIN2, ODCRCS 114500 Colorectal cancer, somatic 3 +604025 AXIN2 Axis inhibitor 2 (conductin, mouse, homolog of) ENSG00000168646 AXIN2, ODCRCS Autosomal dominant 608615 Oligodontia-colorectal cancer syndrome 3 +135400 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (chromosome 17q24 microdeletion syndrome) HTGH, DEL17q24 Autosomal recessive 135400 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia 4 +176960 PRKCA Protein kinase C, alpha polypeptide ENSG00000154229 PRKCA, PKCA cen-COL1A1-PKCA-GH1 Pituitary tumor, invasive 3 +188830 PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha ENSG00000108946 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 fused with RET to form PTC2 Autosomal dominant 101800 Acrodysostosis 1, with or without hormone resistance 3 +188830 PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha ENSG00000108946 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 fused with RET to form PTC2 Adrenocortical tumor, somatic 3 +188830 PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha ENSG00000108946 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 fused with RET to form PTC2 Autosomal dominant 160980 Carney complex, type 1 3 +188830 PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha ENSG00000108946 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 fused with RET to form PTC2 Autosomal recessive 255960 Myxoma, intracardiac 3 +188830 PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha ENSG00000108946 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 fused with RET to form PTC2 Autosomal dominant 610489 Pigmented nodular adrenocortical disease, primary, 1 3 +611062 FAM20A Family with sequence similarity 20, member A ENSG00000108950 FAM20A, AIGFS, AI1G Autosomal recessive 204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome) 3 +261800 Pierre Robin syndrome PRBNS between D17S795 and D17S929 Autosomal recessive 261800 Pierre Robin syndrome 2 +278850 46XX sex reversal 2 SRXX2, DUP17q24.3 duplication or triplication of 68kb XXSR regulatory region upstream of SOX9 Autosomal dominant 278850 46XX sex reversal 2 4 +600681 KCNJ2 Potassium channel, inwardly rectifying, subfamily J, member 2 ENSG00000123700 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 Autosomal dominant 170390 Andersen syndrome 3 +600681 KCNJ2 Potassium channel, inwardly rectifying, subfamily J, member 2 ENSG00000123700 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 Autosomal dominant 613980 Atrial fibrillation, familial, 9 3 +600681 KCNJ2 Potassium channel, inwardly rectifying, subfamily J, member 2 ENSG00000123700 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 609622 Short QT syndrome 3 3 +608160 SOX9 SRY (sex-determining region Y)-box 9 ENSG00000125398 SOX9, CMD1, SRA1 Autosomal dominant 114290 Acampomelic campomelic dysplasia 3 +608160 SOX9 SRY (sex-determining region Y)-box 9 ENSG00000125398 SOX9, CMD1, SRA1 Autosomal dominant 114290 Campomelic dysplasia 3 +608160 SOX9 SRY (sex-determining region Y)-box 9 ENSG00000125398 SOX9, CMD1, SRA1 Autosomal dominant 114290 Campomelic dysplasia with autosomal sex reversal 3 +614163 Delayed sleep phase syndrome, susceptibliity to DSPS associated with rs28936679 in AANAT 614163 Delayed sleep phase syndrome, susceptibility to 2 +614149 Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis) NDNC9 max lod at D17S1301 Autosomal recessive 614149 Nail disorder, nonsyndromic congenital, 9 2 +606973 COG1 Component of oligomeric golgi complex 1 ENSG00000166685 COG1, LDLB, KIAA1381, CDG2G 611209 Congenital disorder of glycosylation, type IIg 3 +605483 DNAI2 Dynein, axonemal, intermediate chain 2 ENSG00000171595 DNAI2, CILD9 612444 Ciliary dyskinesia, primary, 9, with or without situs inversus 3 +604990 SLC9A3R1 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 1 ENSG00000109062 SLC9A3R1, EBP50, NHERF1, NPHLOP2 Autosomal dominant 612287 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 3 +607696 USH1G Scaffold protein containing ankyrin repeats and SAM domain ENSG00000182040 SANS, USH1G ?allelic to DFNA20 Autosomal recessive 606943 Usher syndrome, type 1G 3 +606521 SLC25A19 Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 ENSG00000125454 SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4 Autosomal recessive 607196 Microcephaly, Amish type 3 +606521 SLC25A19 Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 ENSG00000125454 SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4 Autosomal recessive 613710 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 3 +608755 TSEN54 tRNA splicing endonuclease 54, S. cerevisiae, homolog of ENSG00000182173 TSEN54, SEN54, PCH2A, PCH4, PCH5 mutation identified in 1 PCH5 patient Autosomal recessive 277470 Pontocerebellar hypoplasia type 2A 3 +608755 TSEN54 tRNA splicing endonuclease 54, S. cerevisiae, homolog of ENSG00000182173 TSEN54, SEN54, PCH2A, PCH4, PCH5 mutation identified in 1 PCH5 patient Autosomal recessive 225753 Pontocerebellar hypoplasia type 4 3 +608755 TSEN54 tRNA splicing endonuclease 54, S. cerevisiae, homolog of ENSG00000182173 TSEN54, SEN54, PCH2A, PCH4, PCH5 mutation identified in 1 PCH5 patient Autosomal recessive 610204 ?Pontocerebellar hypoplasia type 5 3 +147557 ITGB4 Integrin, beta-4 ENSG00000132470 ITGB4 Autosomal dominant 131800 Epidermolysis bullosa of hands and feet 3 +147557 ITGB4 Integrin, beta-4 ENSG00000132470 ITGB4 Autosomal recessive 226650 Epidermolysis bullosa, junctional, non-Herlitz type 3 +147557 ITGB4 Integrin, beta-4 ENSG00000132470 ITGB4 Autosomal recessive 226730 Epidermolysis bullosa, junctional, with pyloric atresia 3 +604313 GALK1 Galactokinase-1 ENSG00000108479 GALK1 Autosomal recessive 230200 Galactokinase deficiency with cataracts 3 +608897 UNC13D UNC13, C. elegans, homolog of, D ENSG00000092929 UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 608898 Hemophagocytic lymphohistiocytosis, familial, 3 3 +609751 ACOX1 Acyl-Coenzyme A oxidase 1, palmitoyl ENSG00000161533 ACOX1, ACOX, SCOX Autosomal recessive 264470 Peroxisomal acyl-CoA oxidase deficiency 3 +614404 RHBDF2 Rhomboid 5, Drosophila, homolog of, 2 ENSG00000129667 RHBDF2, IRHOM2, TOC Autosomal dominant 148500 Tylosis with esophageal cancer 3 +610598 PRCD PRCD, Dog, homolog of ENSG00000214140 PRCD, RP36 610599 Retinitis pigmentosa 36 3 +615262 METTL23 Methyltransferase-like 23 ENSG00000181038 METTL23, C17orf95, MRT44 Autosomal recessive 615942 Mental retardation, autosomal recessive 44 3 +605805 Dermatitis, atopic, 4 ATOD4 maximum lod at D17S1290 605805 Dermatitis, atopic, susceptibility to, 4 2 +612239 Scoliosis, idiopathic, susceptibility to, 5 IS5 between D17S1806 and 17qter 612239 Scoliosis, idiopathic, susceptibility to, 5 2 +604061 SEPT9 Septin 9 ENSG00000184640 SEPT9, MSF, MSF1, NAPB Autosomal dominant 162100 Amyotrophy, hereditary neuralgic 3 +604061 SEPT9 Septin 9 ENSG00000184640 SEPT9, MSF, MSF1, NAPB Leukemia, acute myeloid, therapy-related 1 +604061 SEPT9 Septin 9 ENSG00000184640 SEPT9, MSF, MSF1, NAPB Ovarian carcinoma 1 +605828 TMC6 Transmembrane channel-like 6 ENSG00000141524 TMC6, EVER1, EV1 Autosomal recessive 226400 Epidermodysplasia verruciformis 3 +605829 TMC8 Transmembrane channel-like 8 ENSG00000167895 TMC8, EVER2, EV2 previously mapped to 2p24-p21 Autosomal recessive 226400 Epidermodysplasia verruciformis 3 +613165 CANT1 Calcium-activated nucleotidase 1 ENSG00000171302 CANT1, SCAN1, DBQD1 Autosomal recessive 251450 Desbuquois dysplasia 1 3 +602770 CBX2 Chromobox homolog 2, Drosophila polycomb class ENSG00000173894 CBX2, M33, SRXY5 mutation identified in 1 SRXY5 patient Autosomal recessive 613080 ?46XY sex reversal 5 3 +613799 CCDC40 Coiled-coil domain-containing protein 40 ENSG00000141519 CCDC40, KIAA1640 613808 Ciliary dyskinesia, primary, 15 3 +606800 GAA Glucosidase, acid alpha- ENSG00000171298 GAA distal to TK1 Autosomal recessive 232300 Glycogen storage disease II 3 +608546 EIF4A3 DEAD/H Box 48 ENSG00000141543 DDX48, EIF4A3, MUK34, NMP265, KIAA0111, RCPS Autosomal recessive 268305 Robin sequence with cleft mandible and limb anomalies 3 +607211 CARD14 Caspase recruitment domain-containing protein 14 ENSG00000141527 CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP Autosomal dominant 173200 Pityriasis rubra pilaris 3 +607211 CARD14 Caspase recruitment domain-containing protein 14 ENSG00000141527 CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP Autosomal dominant 602723 Psoriasis 2 3 +605270 SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase) ENSG00000181523 SGSH, MPS3A, SFMD Autosomal recessive 252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 3 +613768 RNF213 Ring finger protein 213 ENSG00000173821 RNF213, ALO17, KIAA1618, MYMY2 607151 Moyamoya disease 2, susceptibility to 3 +102560 ACTG1 Actin, gamma-1 ENSG00000184009 ACTG1, DFNA20, DFNA26, BRWS2 Autosomal dominant 614583 Baraitser-Winter syndrome 2 3 +102560 ACTG1 Actin, gamma-1 ENSG00000184009 ACTG1, DFNA20, DFNA26, BRWS2 Autosomal dominant 604717 Deafness, autosomal dominant 20/26 3 +607643 FSCN2 Fascin, sea urchin, homolog of, 2 ENSG00000186765 FSCN2, RFSN, RP30 within 200kb of ACTG1 607921 Retinitis pigmentosa 30 3 +180073 PDE6G Phosphodiesterase-6G, cGMP-specific, rod, gamma ENSG00000185527 PDE6G, PDEG, RP57 Autosomal recessive 613582 Retinitis pigmentosa 57 3 +138033 GCGR Glucagon receptor ENSG00000215644 GCGR Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +176790 P4HB Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide ENSG00000185624 P4HB, PROHB, CLCRP1 Autosomal dominant 112240 Cole-Carpenter syndrome 1 3 +601925 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha ENSG00000141522 ARHGDIA, GDIA1, NPHS8 Autosomal recessive 615244 Nephrotic syndrome, type 8 3 +179035 PYCR1 Pyroline-5-carboxylate reductase-1 ENSG00000183010 PYCR1, PRO3, ARCL2B, ARCL3B Autosomal recessive 612940 Cutis laxa, autosomal recessive, type IIB 3 +179035 PYCR1 Pyroline-5-carboxylate reductase-1 ENSG00000183010 PYCR1, PRO3, ARCL2B, ARCL3B 614438 Cutis laxa, autosomal recessive, type IIIB 3 +606236 ASPSCR1 Alveolar soft-part sarcoma chromosome region, candidate 1 ENSG00000169696 ASPSCR1, RCC17, ASPL, ASPS t(X;17)(p11.2;q25) 606243 Alveolar soft-part sarcoma 3 +608347 DCXR Dicarbonyl/L-xylulose reductase ENSG00000169738 DCXR, P34H, PNTSU 260800 Pentosuria 3 +600864 CSNK1D Casein kinase-1, delta ENSG00000141551 CSNK1D, ASPS, FASPS2 Autosomal dominant 615224 Advanced sleep-phase syndrome, familial, 2 3 +610226 ZNF750 Zinc finger protein 750 ENSG00000141579 ZNF750, FLJ13841 610227 Seborrhea-like dermatitis with psoriasiform elements 3 +610064 Opioid dependence, susceptibility to, 1 ODS1 610064 Opioid dependence, susceptibility to, 1 2 +104000 Alopecia areata 1 AA1 max lod at D18S967 Multifactorial 104000 Alopecia areata 1 2 +146390 Chromosome 18p deletion syndrome DEL18p, C18DELp Autosomal dominant 146390 Chromosome 18p deletion syndrome 4 +609647 DFNB46 Deafness, neurosensory, autosomal recessive 46 DFNB46 between D18S59 and D18S391 Autosomal recessive 609647 Deafness, autosomal recessive 46 2 +607488 DYT15 Dystonia-15, myoclonic DYT15 Autosomal dominant 607488 Dystonia-15, myoclonic 2 +602124 DYT7 Dystonia-7 (torsion dystonia, adult-onset, focal) DYT7 Autosomal dominant 602124 Dystonia-7, torsion 2 +612354 Inflammatory bowel disease 21 IBD21 associated with rs2542151 612354 Inflammatory bowel disease 21 2 +125480 MAFD1 Major affective disorder 1 MAFD1, BPAD, MD1 ?also 18q Autosomal dominant 125480 Major affective disorder 1 2 +614343 MRT19 Mental retardation, autosomal recessive 19 MRT19 between rs4606805 and rs1787846 Autosomal recessive 614343 Mental retardation, autosomal recessive 19 2 +612353 Porokeratosis 6 POROK6, DSAP4 between telomere and D18S391 Autosomal dominant 612353 Porokeratosis 6, multiple types 2 +603206 SCZD8 Schizophrenia susceptibility locus, chromosome 18-related SCZD8 Autosomal dominant 181500 Schizophrenia 2 +614290 Tetrasomy 18p TET18P 614290 Tetrasomy 18p 4 +614982 SMCHD1 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 ENSG00000101596 SMCHD1, KIAA0650 158901 Fascioscapulohumeral muscular dystrophy 2, digenic 3 +160700 MYP2 Myopia, high grade, autosomal dominant 1 MYP2 Autosomal dominant 160700 Myopia-2 2 +605519 LPIN2 Lipin 2 ENSG00000101577 LPIN2 609628 Majeed syndrome 3 +602630 TGIF1 TG-interacting factor ENSG00000177426 TGIF, HPE4 Autosomal dominant 142946 Holoprosencephaly 4 3 +150320 LAMA1 Laminin, alpha-1 ENSG00000101680 LAMA1, PTBHS Autosomal recessive 615960 Poretti-Boltshauser syndrome 3 +107200 Anosmia, isolated congenital ANIC max lod at D18S1108 Autosomal dominant 107200 Anosmia, isolated congenital 2 +606616 DYX6 Dyslexia, susceptibility to, 6 DYX6, DYXQTL18 606616 Dyslexia, susceptibility to, 6 2 +609253 FEB6 Febrile seizures, familial, 6 FEB6 max lod at D18S1158 Autosomal dominant 609253 Febrile seizures, familial, 6 2 +612410 PSORS10 Psoriasis susceptibility 10 PSORS10 between D18S63 and D18S967 612410 Psoriasis susceptibility 10 2 +600532 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kD ENSG00000178127 NDUFV2 pseudogene on 19q13.3-qter Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +607479 APCDD1 Adenomatosis polyposis coli down-regulated 1 ENSG00000154856 APCDD1, HHS, HYPT1, HTS 605389 Hypotrichosis 1 3 +613629 PIEZO2 PIEZO-type mechanosensitive ion channel component 2 ENSG00000154864 PIEZO2, FAM38B, DA5, DA3, MWKS mutation identified in 1 MWKS patient Autosomal dominant 114300 Arthrogryposis, distal, type 3 3 +613629 PIEZO2 PIEZO-type mechanosensitive ion channel component 2 ENSG00000154864 PIEZO2, FAM38B, DA5, DA3, MWKS mutation identified in 1 MWKS patient Autosomal dominant 108145 Arthrogryposis, distal, type 5 3 +613629 PIEZO2 PIEZO-type mechanosensitive ion channel component 2 ENSG00000154864 PIEZO2, FAM38B, DA5, DA3, MWKS mutation identified in 1 MWKS patient Autosomal dominant 248700 ?Marden-Walker syndrome 3 +139312 GNAL Guanine nucleotide-binding protein, alpha-subunit, olfactory type ENSG00000141404 GNAL, DYT25 Autosomal dominant 615073 Dystonia 25 3 +604581 AFG3L2 ATPase family gene 3-like 2 ENSG00000141385 AFG3L2, SCA28, SPAX5 Autosomal recessive 614487 Ataxia, spastic, 5, autosomal recessive 3 +604581 AFG3L2 ATPase family gene 3-like 2 ENSG00000141385 AFG3L2, SCA28, SPAX5 Autosomal dominant 610246 Spinocerebellar ataxia 28 3 +607397 MC2R Melanocortin-2 receptor (ACTH receptor) ENSG00000185231 MC2R Autosomal recessive 202200 Glucocorticoid deficiency, due to ACTH unresponsiveness 3 +601808 Chromosome 18q deletion syndrome DEL18q Autosomal dominant 601808 Chromosome 18q deletion syndrome 4 +143850 Orthostatic hypotensive disorder of Streeten OHDS Autosomal dominant 143850 Orthostatic hypotensive disorder of Streeten 2 +613930 Alopecia-mental retardation syndrome 3 APMR3 between D18S866 and D18S811 Autosomal recessive 613930 Alopecia-mental retardation syndrome 3 2 +608677 MIB1 Mindbomb, Drosophila, homolog of, 1 ENSG00000101752 MIB1, MIB, DIP1, KIAA1323, LVNC7 Autosomal dominant 615092 Left ventricular noncompaction 7 3 +601656 GATA6 GATA-binding protein-6 ENSG00000141448 GATA6, AVSD5, ASD9, AVSD5, PACHD Autosomal dominant 614475 Atrial septal defect 9 3 +601656 GATA6 GATA-binding protein-6 ENSG00000141448 GATA6, AVSD5, ASD9, AVSD5, PACHD Autosomal dominant 614474 Atrioventricular septal defect 5 3 +601656 GATA6 GATA-binding protein-6 ENSG00000141448 GATA6, AVSD5, ASD9, AVSD5, PACHD Autosomal dominant 600001 Pancreatic agenesis and congenital heart defects 3 +601656 GATA6 GATA-binding protein-6 ENSG00000141448 GATA6, AVSD5, ASD9, AVSD5, PACHD 217095 Persistent truncus arteriosus 3 +601656 GATA6 GATA-binding protein-6 ENSG00000141448 GATA6, AVSD5, ASD9, AVSD5, PACHD Autosomal dominant 187500 Tetralogy of Fallot 3 +604124 RBBP8 Retinoblastoma-binding protein 8 ENSG00000101773 RBBP8, RIM, SCKL2, JWDS Autosomal recessive 251255 Jawad syndrome 3 +604124 RBBP8 Retinoblastoma-binding protein 8 ENSG00000101773 RBBP8, RIM, SCKL2, JWDS Pancreatic carcinoma, somatic 3 +604124 RBBP8 Retinoblastoma-binding protein 8 ENSG00000101773 RBBP8, RIM, SCKL2, JWDS Autosomal recessive 606744 Seckel syndrome 2 3 +607623 NPC1 NPC1 gene ENSG00000141458 NPC1, NPC some families not linked to 18; type D prob. allelic Autosomal recessive 257220 Niemann-Pick disease, type C1 3 +607623 NPC1 NPC1 gene ENSG00000141458 NPC1, NPC some families not linked to 18; type D prob. allelic Autosomal recessive 257220 Niemann-Pick disease, type D 3 +600805 LAMA3 Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epilegrin) ENSG00000053747 LAMA3, LOCS Autosomal recessive 226650 Epidermolysis bullosa, generalized atrophic benign 3 +600805 LAMA3 Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epilegrin) ENSG00000053747 LAMA3, LOCS Autosomal recessive 226700 Epidermolysis bullosa, junctional, Herlitz type 3 +600805 LAMA3 Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epilegrin) ENSG00000053747 LAMA3, LOCS Autosomal recessive 245660 Laryngoonychocutaneous syndrome 3 +600192 SS18 Synovial sarcoma translocation, chromosome 18 ENSG00000141380 SS18, SSXT, SYT 5' SYST/3' SSRC in t(X;18) Sarcoma, synovial 1 +601689 TAF4B TAF4b RNA polymerase II, TATA box-binding protein-associated factor, 105kD ENSG00000141384 TAF4B, TAF2C2, TAFII105, SPGF13 mutation identified in 1 SPGF13 family Autosomal recessive 615841 ?Spermatogenic failure 13 3 +613420 KCTD1 Potassium channel tetramerization domain-containing 1 ENSG00000134504 KCTD1, SENS Autosomal dominant 181270 Scalp-ear-nipple syndrome 3 +600271 DSC3 Desmocollin-3 ENSG00000134762 DSC3, DSC4 mutation identified in 1 HYPTSV family Autosomal recessive 613102 ?Hypotrichosis and recurrent skin vesicles 3 +125645 DSC2 Desmocollin-2 ENSG00000134755 DSC2, DSC3, ARVD11 Autosomal recessive, Autosomal dominant 610476 Arrhythmogenic right ventricular dysplasia 11 3 +125645 DSC2 Desmocollin-2 ENSG00000134755 DSC2, DSC3, ARVD11 Autosomal recessive, Autosomal dominant 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair 3 +125670 DSG1 Desmoglein-1 ENSG00000134760 DSG1, PPKS1, SPPK1, EPKHE pemphigus foliaceous antigen Autosomal recessive 615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE 3 +125670 DSG1 Desmoglein-1 ENSG00000134760 DSG1, PPKS1, SPPK1, EPKHE pemphigus foliaceous antigen Autosomal dominant 148700 Keratosis palmoplantaris striata I, AD 3 +607892 DSG4 Desmoglein 4 ENSG00000175065 DSG4, LAH, HYPT6 Autosomal recessive 607903 Hypotrichosis 6 3 +125671 DSG2 Desmoglein-2 ENSG00000046604 DSG2, ARVD10, ARVC10, CMD1BB Autosomal dominant 610193 Arrhythmogenic right ventricular dysplasia 10 3 +125671 DSG2 Desmoglein-2 ENSG00000046604 DSG2, ARVD10, ARVC10, CMD1BB 612877 Cardiomyopathy, dilated, 1BB 3 +176300 TTR Transthyretin (prealbumin) ENSG00000118271 TTR, PALB Autosomal dominant 105210 Amyloidosis, hereditary, transthyretin-related 3 +176300 TTR Transthyretin (prealbumin) ENSG00000118271 TTR, PALB Autosomal dominant 115430 Carpal tunnel syndrome, familial 3 +176300 TTR Transthyretin (prealbumin) ENSG00000118271 TTR, PALB Autosomal dominant 145680 Dystransthyretinemic hyperthyroxinemia 3 +610432 RNF125 RING finger protein 125 ENSG00000101695 RNF125, TRAC1, TNORS Autosomal dominant 616260 Tenorio syndrome 3 +615115 ASXL3 Additional sex combs-like 3 ENSG00000141431 ASXL3, KIAA1713, BRPS 615485 Bainbridge-Ropers syndrome 3 +601239 DTNA Dystobrevin, alpha (dystrophin-related protein 3) ENSG00000134769 DTNA, D18S892E, DRP3, LVNC1 Autosomal dominant 604169 Left ventricular noncompaction 1, with or without congenital heart defects 3 +605789 MAPRE2 Microtubule-associated protein, RP/EB family, member 2 ENSG00000166974 MAPRE2, EB2, RP1, CSCSC2 Autosomal dominant 616734 Symmetric circumferential skin creases, congenital, 2 3 +605293 OPA4 Optic atrophy 4 OPA4 605293 Optic atrophy 4 2 +613274 MOCOS Molybdenum cofactor sulfurase ENSG00000075643 MOCOS, MCS, XAN2 Autosomal recessive 603592 Xanthinuria, type II 3 +614319 Vesicoureteral reflux 6 VUR6 closest marker rs1054986 614319 Vesicoureteral reflux 6 2 +611060 SETBP1 SET-binding protein 1 ENSG00000152217 SETBP1, KIAA0437, SEB, MRD29 fused with NUP98 in ALL Autosomal dominant 616078 Mental retardation, autosomal dominant 29 3 +611060 SETBP1 SET-binding protein 1 ENSG00000152217 SETBP1, KIAA0437, SEB, MRD29 fused with NUP98 in ALL Autosomal dominant 269150 Schinzel-Giedion midface retraction syndrome 3 +613868 SLC14A1 Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) ENSG00000141469 SLC14A1, JK, UTE, UT1 previous suggestion of chr.7 or chr.2 111000 Blood group, Kidd 3 +615068 EPG5 Ectopic P-granules autophagy protein 5, C. elegans, homolog of ENSG00000152223 EPG5, KIAA1632, HEEW1, VICIS Autosomal recessive 242840 Vici syndrome 3 +606640 ALS3 Amyotrophic lateral sclerosis 3 ALS3 Autosomal dominant 606640 Amyotrophic lateral sclerosis 3 2 +600624 CORD1 Cone rod dystrophy 1, autosomal dominant CORD1, CRD1 Autosomal dominant 600624 Cone-rod retinal dystrophy-1 2 +601941 IDDM6 Insulin-dependent diabetes mellitus-6 IDDM6 601941 Diabetes mellitus, insulin-dependent, 6 2 +164360 ATP5A1 ATP synthase, H+ transporting (ATPase, mitochondrial) ENSG00000152234 ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22 pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family Autosomal recessive 616045 ?Combined oxidative phosphorylation deficiency 22 3 +164360 ATP5A1 ATP synthase, H+ transporting (ATPase, mitochondrial) ENSG00000152234 ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22 pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family Autosomal recessive 615228 ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 3 +613072 LOXHD1 Lipoxygenase homology domains-containing 1 ENSG00000167210 LOXHD1, DFNB77 Autosomal recessive 613079 Deafness, autosomal recessive 77 3 +609382 IER3IP1 Immediate-early response 3-interacting protein 1 ENSG00000134049 IER3IP1, MEDS Autosomal recessive 614231 Microcephaly, epilepsy, and diabetes syndrome 3 +602932 SMAD7 Mothers against decapentaplegic, Drosophila, homolog of, 7 ENSG00000101665 SMAD7, MADH7, CRCS3 612229 Colorectal cancer, susceptibility to, 3 3 +607461 DYM Dymeclin ENSG00000141627 DYM, FLJ90130, DMC, SMC Autosomal recessive 223800 Dyggve-Melchior-Clausen disease 3 +607461 DYM Dymeclin ENSG00000141627 DYM, FLJ90130, DMC, SMC Autosomal recessive 607326 Smith-McCort dysplasia 3 +606540 MYO5B Myosin VB ENSG00000167306 MYO5B, KIAA1119 Autosomal recessive 251850 Microvillus inclusion disease 3 +614759 CFAP53 Coiled-coil domain-containing protein 11 ENSG00000172361 CCDC11, HTX6 Autosomal recessive 614779 Heterotaxy, visceral, 6, autosomal recessive 3 +611014 Hypertension, essential, susceptibility to, 8 HYT8 associated with rs1941958 and rs1893379 611014 Hypertension, essential, susceptibility to, 8 2 +600993 SMAD4 Mothers against decapentaplegic, Drosophila, homolog of, 4 ENSG00000141646 SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS Autosomal dominant 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 3 +600993 SMAD4 Mothers against decapentaplegic, Drosophila, homolog of, 4 ENSG00000141646 SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS Autosomal dominant 139210 Myhre syndrome 3 +600993 SMAD4 Mothers against decapentaplegic, Drosophila, homolog of, 4 ENSG00000141646 SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS 260350 Pancreatic cancer, somatic 3 +600993 SMAD4 Mothers against decapentaplegic, Drosophila, homolog of, 4 ENSG00000141646 SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS Autosomal dominant 174900 Polyposis, juvenile intestinal 3 +120470 DCC Deleted in colorectal carcinoma ENSG00000187323 DCC, MRMV1 114500 Colorectal cancer, somatic 3 +120470 DCC Deleted in colorectal carcinoma ENSG00000187323 DCC, MRMV1 133239 Esophageal carcinoma, somatic 3 +120470 DCC Deleted in colorectal carcinoma ENSG00000187323 DCC, MRMV1 Autosomal dominant 157600 Mirror movements 1 3 +602272 TCF4 Transcription factor-4 (immunoglobulin transcription factor-2) ENSG00000196628 TCF4, SEF2, ITF2, PTHS, FECD3 Autosomal dominant 613267 Corneal dystrophy, Fuchs endothelial, 3 3 +602272 TCF4 Transcription factor-4 (immunoglobulin transcription factor-2) ENSG00000196628 TCF4, SEF2, ITF2, PTHS, FECD3 Autosomal dominant 610954 Pitt-Hopkins syndrome 3 +212200 Carnosinemia (carnosinase) CNSN Autosomal recessive 212200 Carnosinemia 2 +612386 FECH Ferrochelatase ENSG00000066926 FECH, FCE Autosomal recessive 177000 Protoporphyria, erythropoietic, autosomal recessive 3 +602397 ATP8B1 ATPase, class I, type 8B, member 1 ENSG00000081923 ATP8B1, FIC1, BRIC, PFIC1, ICP1 Autosomal recessive 243300 Cholestasis, benign recurrent intrahepatic 3 +602397 ATP8B1 ATPase, class I, type 8B, member 1 ENSG00000081923 ATP8B1, FIC1, BRIC, PFIC1, ICP1 Autosomal dominant 147480 Cholestasis, intrahepatic, of pregnancy, 1 3 +602397 ATP8B1 ATPase, class I, type 8B, member 1 ENSG00000081923 ATP8B1, FIC1, BRIC, PFIC1, ICP1 Autosomal recessive 211600 Cholestasis, progressive familial intrahepatic 1 3 +604860 MALT1 Mucosa-associated lymphoid tissue lymphoma translocation gene 1 ENSG00000172175 MALT1, MLT, IMD12 fused with API2 in MALT lymphoma Autosomal recessive 615468 Immunodeficiency 12 3 +601881 RAX Retina and anterior neural fold homeobox gene ENSG00000134438 RAX, RX, MCOP3 Autosomal recessive 611038 Microphthalmia, isolated 3 3 +601567 LMAN1 Lectin, mannose-binding, 1 ENSG00000074695 LMAN1, ERGIC53, F5F8D, MCFD1 Autosomal recessive 227300 Combined factor V and VIII deficiency 3 +612753 CCBE1 Collagen and calcium-binding EGF domain-containing protein 1 ENSG00000183287 CCBE1, KIAA1983, HKLLS1 Autosomal recessive 235510 Hennekam lymphangiectasia-lymphedema syndrome 1 3 +155541 MC4R Melanocortin-4 receptor ENSG00000166603 MC4R Autosomal recessive, Autosomal dominant, Multifactorial 601665 Obesity, autosomal dominant 3 +606097 PIGN Phosphatidylinositol glycan, class N ENSG00000197563 PIGN, MCAHS1 Autosomal recessive 614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 3 +603499 TNFRSF11A Tumor necrosis factor receptor superfamily, member 11A ENSG00000141655 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 Autosomal dominant 174810 Osteolysis, familial expansile 3 +603499 TNFRSF11A Tumor necrosis factor receptor superfamily, member 11A ENSG00000141655 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 612301 Osteopetrosis, autosomal recessive 7 3 +603499 TNFRSF11A Tumor necrosis factor receptor superfamily, member 11A ENSG00000141655 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 Autosomal dominant 602080 Paget disease of bone 2, early-onset 3 +151430 BCL2 B-cell CLL/lymphoma-2 ENSG00000171791 BCL2 most frequent hematologic malignancy t(14;18)(q32;q21) Leukemia/lymphoma, B-cell, 2 3 +136440 KDSR Follicular lymphoma, variant translocation 1 ENSG00000119537 FVT1 ~10kb 5' to BCL2 Lymphoma/leukemia, B-cell, variant 1 +603357 SERPINB7 Serpin peptidase inhibitor, clade B (ovalbumin), member 7 ENSG00000166396 SERPINB7, MEGSIN, PPKN Autosomal recessive 615598 Palmoplantar keratoderma, Nagashima type 3 +609334 Chromosome 18 pericentric inversion DUP18pDEL18q, DUP18qDEL18p 609334 Chromosome 18 pericentric inversion 4 +602401 Ectodermal dysplasia 8, hair/tooth/nail type ECTD8 between D18S857 and D18S815 Autosomal recessive 602401 Ectodermal dysplasia 8, hair/tooth/nail type 2 +601697 SERPINB8 Serpin family B, member 8 ENSG00000166401 SERPINB8, PI8, CAP2, PSS5 Autosomal recessive 617115 Peeling skin syndrome 5 3 +610436 RTTN Rotatin ENSG00000176225 RTTN, MSSP Autosomal recessive 614833 Microcephaly, short stature, and polymicrogyria with seizures 3 +613218 CYB5A Cytochrome b5 ENSG00000166347 CYB5A, MCB5 pseudogenes on X, 14q, 20p Autosomal recessive 250790 Methemoglobinemia, type IV 3 +614427 TSHZ1 Teashirt zinc finger homeobox 1 ENSG00000179981 TSHZ1, TSH1, CAA Autosomal dominant 607842 Aural atresia, congenital 3 +604927 CTDP1 C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1 ENSG00000060069 CTDP1, FCP1, CCFDN Autosomal recessive 604168 Congenital cataracts, facial dysmorphism, and neuropathy 3 +611595 TXNL4A Thioredoxin-like 4A ENSG00000141759 TXNL4A, DIM1, BMKS Autosomal recessive 608572 Burn-McKeown syndrome 3 +108725 ATHS Atherosclerosis susceptibility (lipoprotein associated) ATHS, ALP closely linked to LDLR; may be LDLR Autosomal dominant 108725 Atherosclerosis, susceptibility to 2 +600209 EXT3 Exostoses, multiple, 3 EXT3 Autosomal dominant 600209 Exostoses, multiple, type 3 2 +602477 FEB2 Febrile seizures, familial, 2 FEB2 Autosomal dominant 602477 Febrile seizures, familial, 2 2 +614233 Hyperpigmentation, familial progressive, 1 FPH1, MUH, HPP 614233 Hyperpigmentation, familial progressive, 1 2 +606674 IBD6 Inflammatory bowel disease 6 IBD6 606674 Inflammatory bowel disease 6 2 +181800 Adolescent idiopathic scoliosis IS1, AIS Autosomal dominant 181800 Scoliosis, idiopathic 1 2 +601846 MDRV Muscular dystrophy with rimmed vacuoles MDRV Autosomal dominant 601846 Muscular dystrophy with rimmed vacuoles 2 +607508 Migraine with or without aura, susceptibility to, 5 MGR5 Autosomal dominant 607508 Migraine with or without aura, susceptibility to, 5 2 +615830 Pigmented nodular adrenocortical disease, primary, 4 PPNAD4 duplication of 294kb to 2.7Mb on 19p13 Autosomal dominant 615830 Pigmented nodular adrenocortical disease, primary, 4 4 +605364 PSORS6 Psoriasis susceptibility 6 PSORS6 605364 Psoriasis susceptibility 6 2 +109480 BSG Basigin (blood group OK) ENSG00000172270 BSG 111380 Blood group, OK 3 +130130 ELANE Elastase, neutrophil-expressed ENSG00000277571 ELANE, ELA2, SCN1 Autosomal dominant 162800 Neutropenia, cyclic 3 +130130 ELANE Elastase, neutrophil-expressed ENSG00000277571 ELANE, ELA2, SCN1 Autosomal dominant 202700 Neutropenia, severe congenital 1, autosomal dominant 3 +134350 CFD Complement factor D ENSG00000274619 CFD, ADN Autosomal recessive 613912 Complement factor D deficiency 3 +604161 KISS1R KISS1 receptor ENSG00000116014 KISS1R, GPR54, HH8, CPPB1 mutation identified in 1 CPPB1 patient Autosomal recessive 614837 Hypogonadotropic hypogonadism 8 with or without anosmia 3 +604161 KISS1R KISS1 receptor ENSG00000116014 KISS1R, GPR54, HH8, CPPB1 mutation identified in 1 CPPB1 patient Autosomal dominant 176400 ?Precocious puberty, central, 1 3 +605414 ABCA7 ATP-binding cassette, subfamily A, member 7 ENSG00000064687 ABCA7, ABCX, AD9 Autosomal dominant 608907 Alzheimer disease 9, susceptibility to 3 +138322 GPX4 Glutathione peroxidase-4 (phospholipid hydroperoxidase) ENSG00000167468 GPX4, SMDS Autosomal recessive 250220 Spondylometaphyseal dysplasia, Sedaghatian type 3 +602216 STK11 Serine/threonine protein kinase-11 ENSG00000118046 STK11, PJS, LKB1 Melanoma, malignant, somatic 3 +602216 STK11 Serine/threonine protein kinase-11 ENSG00000118046 STK11, PJS, LKB1 Autosomal dominant, Somatic mutation, Multifactorial 260350 Pancreatic cancer 3 +602216 STK11 Serine/threonine protein kinase-11 ENSG00000118046 STK11, PJS, LKB1 Autosomal dominant 175200 Peutz-Jeghers syndrome 3 +602216 STK11 Serine/threonine protein kinase-11 ENSG00000118046 STK11, PJS, LKB1 273300 Testicular tumor, somatic 3 +601825 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kD (NADH-coenzyme Q reductase) ENSG00000115286 NDUFS7, PSST Autosomal recessive, Mitochondrial 256000 Leigh syndrome 3 +601240 GAMT Guanidinoacetate methyltransferase ENSG00000130005 GAMT, CCDS2 Autosomal recessive 612736 Cerebral creatine deficiency syndrome 2 3 +147141 TCF3 Transcription factor-3 (E2A immunoglobulin enhancer-binding factors E12/E47) ENSG00000071564 TCF3, E2A, AGM8 Autosomal dominant 616941 Agammaglobulinemia 8, autosomal dominant 3 +615302 ADAT3 Adenosine deaminase, tRNA-specific, 3 ENSG00000213638 ADAT3, TAD3, MRT36 Autosomal recessive 615286 Mental retardation, autosomal recessive 36 3 +607246 AP3D1 Adaptor-related protein complex 3, delta-1 subunit ENSG00000065000 AP3D1, HPS10 mutation identified in 1 HPS10 patient Autosomal recessive 617050 ?Hermansky-Pudlak syndrome 10 3 +600957 AMH Anti-Mullerian hormone ENSG00000104899 AMH, MIF Autosomal recessive 261550 Persistent Mullerian duct syndrome, type I 3 +150341 LMNB2 Lamin B2 ENSG00000176619 LMNB2, LMN2, EPM9 mutation identified in 1 EPM9 family Autosomal recessive 616540 ?Epilepsy, progressive myoclonic, 9 3 +150341 LMNB2 Lamin B2 ENSG00000176619 LMNB2, LMN2, EPM9 mutation identified in 1 EPM9 family Autosomal dominant 608709 Lipodystrophy, partial, acquired, susceptibility to 3 +612399 TLE6 Transducin-like enhancer of split 6 ENSG00000104953 TLE6, GRG6, PREMBL Autosomal recessive 616814 Preimplantation embryonic lethality 3 +139313 GNA11 Guanine nucleotide-binding protein, Gq class, GNA11 ENSG00000088256 GNA11, HHC2, HYPOC2 Autosomal dominant 615361 Hypocalcemia, autosomal dominant 2 3 +139313 GNA11 Guanine nucleotide-binding protein, Gq class, GNA11 ENSG00000088256 GNA11, HHC2, HYPOC2 Autosomal dominant 145981 Hypocalciuric hypercalcemia, type II 3 +608792 GIPC3 GAIP C-terminus-interacting protein 3 ENSG00000179855 GIPC3, DFNB15, DFNB72, DFNB95 Autosomal recessive 601869 Deafness, autosomal recessive 15 3 +188070 TBXA2R Thromboxane A2 receptor ENSG00000006638 TBXA2R, BDPLT13 Autosomal dominant 614009 Bleeding disorder, platelet-type, 13, susceptibility to 3 +606102 PIP5K1C Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma ENSG00000186111 PIP5K1C, LCCS3 Autosomal recessive 611369 Lethal congenital contractural syndrome 3 3 +610362 RAX2 Retina and anterior neural fold homeobox 2 ENSG00000173976 RAX2, RAXL1, QRX, CORD11, ARMD6 mutation identified in 1 ARMD6 patient Autosomal dominant 610381 Cone-rod dystrophy 11 3 +610362 RAX2 Retina and anterior neural fold homeobox 2 ENSG00000173976 RAX2, RAXL1, QRX, CORD11, ARMD6 mutation identified in 1 ARMD6 patient 613757 ?Macular degeneration, age-related, 6 3 +608179 ATCAY Caytaxin ENSG00000167654 ATCAY, CLAC, KIAA1872 Autosomal recessive 601238 Ataxia, cerebellar, Cayman type 3 +130610 EEF2 Eukaryotic translation elongation factor-2 ENSG00000167658 EEF2, EF2, SCA26 mutation identified in 1 family Autosomal dominant 609306 ?Spinocerebellar ataxia 26 3 +601263 MAP2K2 Mitogen-activated protein kinase kinase 2 ENSG00000126934 MAP2K2, PRKMK2, MEK2, MKK2, CFC4 previously assigned to 7q32 615280 Cardiofaciocutaneous syndrome 4 3 +601768 SH3GL1 SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene) ENSG00000141985 SH3GL1, EEN Autosomal dominant 601626 Leukemia, acute myeloid 1 +607601 TICAM1 TIR domain-containing adaptor molecule 1 ENSG00000127666 TICAM1, TRIF, IIAE6 614850 Herpes simplex encephalitic, susceptibility to, 6 3 +605490 LONP1 lon peptidase 1, mitochondrial ENSG00000196365 LONP1, PRSS15, LON, CODASS Autosomal recessive 600373 CODAS syndrome 3 +136836 FUT6 Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) ENSG00000156413 FUT6 in cluster with FUT3, FUT5 613852 Fucosyltransferase 6 deficiency 3 +111100 FUT3 Fucosyltransferase 3 ENSG00000171124 FUT3, LE cen-FUT5-23kb-FUT3-14kb-FUT6-ter Blood group, Lewis 3 +612638 NDUFA11 NADH-dehydrogenase 1 alpha subcomplex, 11 ENSG00000174886 NDUFA11 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +601119 CLPP ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of ENSG00000125656 CLPP, PRLTS3, DFNB81 Autosomal recessive 614129 Perrault syndrome 3 3 +602662 TUBB4A Tubulin, beta-4A ENSG00000104833 TUBB4A, DYT4, HLD6 Autosomal dominant 128101 Dystonia 4, torsion, autosomal dominant 3 +602662 TUBB4A Tubulin, beta-4A ENSG00000104833 TUBB4A, DYT4, HLD6 Autosomal dominant 612438 Leukodystrophy, hypomyelinating, 6 3 +120700 C3 Complement component-3 ENSG00000125730 C3, ARMD9, AHUS5 LE ~7cM in males vs. C3 RFLP Autosomal recessive 613779 C3 deficiency 3 +120700 C3 Complement component-3 ENSG00000125730 C3, ARMD9, AHUS5 LE ~7cM in males vs. C3 RFLP Autosomal dominant 612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5 3 +120700 C3 Complement component-3 ENSG00000125730 C3, ARMD9, AHUS5 LE ~7cM in males vs. C3 RFLP 611378 Macular degeneration, age-related, 9 3 +164953 Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6) LPSA, D19S381E Liposarcoma 1 +614223 Narcolepsy 6 NRCLP6 associated with rs2305795 614223 Narcolepsy 6 2 +607324 Polydactyly, postaxial, type A3 PAPA3 between D19S1165 and D19S929 607324 Polydactyly, postaxial, type A3 2 +184700 PCOS1 Polycystic ovary syndrome 1 PCOS1, PCO1, PCO max lod at D19S884 Autosomal dominant 184700 Polycystic ovary syndrome 1 2 +603386 Thyroid carcinoma, nonmedullary, with cell oxyphilia TCO 603386 Thyroid carcinoma, nonmedullary, with cell oxyphilia 2 +147670 INSR Insulin receptor ENSG00000171105 INSR, HHF5 1 gene for alpha and beta subunits 610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 3 +147670 INSR Insulin receptor ENSG00000171105 INSR, HHF5 1 gene for alpha and beta subunits Autosomal dominant 609968 Hyperinsulinemic hypoglycemia, familial, 5 3 +147670 INSR Insulin receptor ENSG00000171105 INSR, HHF5 1 gene for alpha and beta subunits Autosomal recessive 246200 Leprechaunism 3 +147670 INSR Insulin receptor ENSG00000171105 INSR, HHF5 1 gene for alpha and beta subunits Autosomal recessive 262190 Rabson-Mendenhall syndrome 3 +605248 MCOLN1 Mucolipin 1 ENSG00000090674 MCOLN1, ML4 Autosomal recessive 252650 Mucolipidosis IV 3 +603197 PNPLA6 Patatin-like phospholipase domain-containing protein 6 ENSG00000032444 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS mutation identified in 1 LMNS family Autosomal recessive 215470 Boucher-Neuhauser syndrome 3 +603197 PNPLA6 Patatin-like phospholipase domain-containing protein 6 ENSG00000032444 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS mutation identified in 1 LMNS family Autosomal recessive 245800 ?Laurence-Moon syndrome 3 +603197 PNPLA6 Patatin-like phospholipase domain-containing protein 6 ENSG00000032444 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS mutation identified in 1 LMNS family Autosomal recessive 275400 Oliver-McFarlane syndrome 3 +603197 PNPLA6 Patatin-like phospholipase domain-containing protein 6 ENSG00000032444 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS mutation identified in 1 LMNS family Autosomal recessive 612020 Spastic paraplegia 39, autosomal recessive 3 +614770 PET100 PET100, S. cerevisiae, homolog of ENSG00000229833 PET100, C19orf79 Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +601717 STXBP2 Syntaxin binding protein 2 ENSG00000076944 STXBP2, UNC18B, FHL5 613101 Hemophagocytic lymphohistiocytosis, familial, 5 3 +605565 RETN Resistin ENSG00000104918 RETN, RSTN, FIZZ3 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent, susceptibility to 3 +605565 RETN Resistin ENSG00000104918 RETN, RSTN, FIZZ3 Autosomal dominant 125853 Hypertension, insulin resistance-related, susceptibility to 3 +604672 CD209 CD209 antigen ENSG00000090659 CD209, CDSIGN 614371 Dengue fever, protection against 3 +604672 CD209 CD209 antigen ENSG00000090659 CD209, CDSIGN 609423 HIV type 1, susceptibility to 3 +604672 CD209 CD209 antigen ENSG00000090659 CD209, CDSIGN 607948 Mycobacterium tuberculosis, susceptibility to 3 +605872 CLEC4M C-type lectin domain family 4, member M ENSG00000104938 CLEC4M, CD209L, LSIGN, DCSIGNR 605872 SARS infection, protection against 2 +606475 CD320 CD320 molecule ENSG00000167775 CD320, 8D6, 8D6A, TCBLR 613646 Methylmalonic aciduria due to transcobalamin receptor defect 3 +603685 RPS28 Ribosomal protein S28 ENSG00000233927 RPS28, DBA15 Autosomal dominant 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3 +605910 ANGPTL4 Angiopoietin-like 4 ENSG00000167772 ANGPTL4, PGAR, HFARP, FIAF, TGQTL Autosomal dominant 615881 Plasma triglyceride level QTL, low 3 +608990 ADAMTS10 A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 ENSG00000142303 ADAMTS10, WMS1 Autosomal recessive 277600 Weill-Marchesani syndrome 1, recessive 3 +126375 DNMT1 DNA methyltransferase 1 ENSG00000130816 DNMT1, MCMT, HSN1E, ADCADN Autosomal dominant 604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 3 +126375 DNMT1 DNA methyltransferase 1 ENSG00000130816 DNMT1, MCMT, HSN1E, ADCADN Autosomal dominant 614116 Neuropathy, hereditary sensory, type IE 3 +605111 S1PR2 Sphingosine-1-phosphate receptor 2 ENSG00000267534 S1PR2, EDG5, DFNB68 Autosomal recessive 610419 Deafness, autosomal recessive 68 3 +147840 ICAM1 Intercellular adhesion molecule-1 ENSG00000090339 ICAM1 close to Ldlr in mouse 611162 Malaria, cerebral, susceptibility to 3 +614088 ICAM4 Intracellular adhesion molecule 4 ENSG00000105371 ICAM4, CD242, LW close to C3, LU 111250 Blood group, Landsteiner-Wiener 3 +176941 TYK2 Tyrosine kinase 2 ENSG00000105397 TYK2, IMD35 Autosomal recessive 611521 Immunodeficiency 35 3 +602378 DNM2 Dynamin-2 ENSG00000079805 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 1 LCCS5 family identified with mutation Autosomal dominant 606482 Charcot-Marie-Tooth disease, axonal, type 2M 3 +602378 DNM2 Dynamin-2 ENSG00000079805 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 1 LCCS5 family identified with mutation Autosomal dominant 606482 Charcot-Marie-Tooth disease, dominant intermediate B 3 +602378 DNM2 Dynamin-2 ENSG00000079805 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 1 LCCS5 family identified with mutation Autosomal recessive 615368 Lethal congenital contracture syndrome 5 3 +602378 DNM2 Dynamin-2 ENSG00000079805 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 1 LCCS5 family identified with mutation Autosomal dominant 160150 Myopathy, centronuclear 3 +603254 SMARCA4 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 ENSG00000127616 SMARCA4, BRG1, RTPS2, MRD16, CSS4 Autosomal dominant 614609 Coffin-Siris syndrome 4 3 +603254 SMARCA4 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 ENSG00000127616 SMARCA4, BRG1, RTPS2, MRD16, CSS4 Autosomal dominant 613325 Rhabdoid tumor predisposition syndrome 2 3 +606945 LDLR Low density lipoprotein receptor ENSG00000130164 LDLR, FHC, FH, LDLCQ2 ~20cM distal to C3 Autosomal dominant 143890 Hypercholesterolemia, familial 3 +606945 LDLR Low density lipoprotein receptor ENSG00000130164 LDLR, FHC, FH, LDLCQ2 ~20cM distal to C3 Autosomal dominant 143890 LDL cholesterol level QTL2 3 +614610 KANK2 KN motif- and ankyrin repeat domain-containing protein 2 ENSG00000197256 KANK2, ANKRD25, KIAA1518, PPKWH Autosomal recessive 616099 Palmoplantar keratoderma and woolly hair 3 +614194 DOCK6 Dedicator of cytokinesis 6 ENSG00000130158 DOCK6, KIAA1395, AOS2 Autosomal recessive 614219 Adams-Oliver syndrome 2 3 +133171 EPOR Erythropoietin receptor ENSG00000187266 EPOR Autosomal dominant 133100 Erythrocytosis, familial, 1 3 +615956 CCDC151 Coiled-coil domain-containing protein 151 ENSG00000198003 CCDC151, CILD30 Autosomal recessive 616037 Ciliary dyskinesia, primary, 30 3 +177060 PRKCSH Protein kinase C substrate 80K-H ENSG00000130175 PRKCSH, G19P1, PCLD1 Autosomal dominant 174050 Polycystic liver disease 1 3 +171640 ACP5 Acid phosphatase 5, tartrate resistant ENSG00000102575 ACP5, SPENCDI incorrectly assigned to 15 by A Autosomal recessive 607944 Spondyloenchondrodysplasia with immune dysregulation 3 +613638 Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome) DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13 contiguous gene syndrome 613638 Chromosome 19p13.13 deletion syndrome 4 +613638 Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome) DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13 contiguous gene syndrome 613638 Chromosome 19p13.13 duplication syndrome 4 +609458 MAN2B1 Mannosidase, alpha, class 2B, member 1 ENSG00000104774 MAN2B1, MANB Autosomal recessive 248500 Mannosidosis, alpha-, types I and II 3 +606034 RNASEH2A Ribonuclease H2, large subunit ENSG00000104889 RNASEH2A, RNHIA, AGS4 Autosomal recessive 610333 Aicardi-Goutieres syndrome 4 3 +600599 KLF1 Kruppel-like factor 1, erythroid ENSG00000105610 KLF1, EKLF, INLU, HBFQTL6, CDAN4 111150 Blood group--Lutheran inhibitor 3 +600599 KLF1 Kruppel-like factor 1, erythroid ENSG00000105610 KLF1, EKLF, INLU, HBFQTL6, CDAN4 Autosomal dominant 613673 Dyserythropoietic anemia, congenital, type IV 3 +600599 KLF1 Kruppel-like factor 1, erythroid ENSG00000105610 KLF1, EKLF, INLU, HBFQTL6, CDAN4 613566 Hereditary persistence of fetal hemoglobin 3 +608801 GCDH Glutaryl-Coenzyme A dehydrogenase ENSG00000105607 GCDH Autosomal recessive 231670 Glutaricaciduria, type I 3 +109091 CALR Sicca syndrome antigen A (autoantigen Ro; calreticulin) ENSG00000179218 CALR, SSA distal to C3, near LDLR 254450 Myelofibrosis, somatic 3 +109091 CALR Sicca syndrome antigen A (autoantigen Ro; calreticulin) ENSG00000179218 CALR, SSA distal to C3, near LDLR 187950 Thrombocythemia, somatic 3 +164005 NFIX Nuclear factor I/X (CCAAT-binding transcription factor) ENSG00000008441 NFIX, NF1A, SOTOS2, MRSHSS Autosomal dominant 602535 Marshall-Smith syndrome 3 +164005 NFIX Nuclear factor I/X (CCAAT-binding transcription factor) ENSG00000008441 NFIX, NF1A, SOTOS2, MRSHSS Autosomal dominant 614753 Sotos syndrome 2 3 +151440 LYL1 Lymphoblastic leukemia derived sequence-1 ENSG00000104903 LYL1 151440 Leukemia, T-cell acute lymphoblastoid 2 +601011 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ENSG00000141837 CACNA1A, CACNL1A4, SCA6, EIEE42 Autosomal dominant 617106 Epileptic encephalopathy, early infantile, 42 3 +601011 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ENSG00000141837 CACNA1A, CACNL1A4, SCA6, EIEE42 Autosomal dominant 108500 Episodic ataxia, type 2 3 +601011 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ENSG00000141837 CACNA1A, CACNL1A4, SCA6, EIEE42 Autosomal dominant 141500 Migraine, familial hemiplegic, 1 3 +601011 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ENSG00000141837 CACNA1A, CACNL1A4, SCA6, EIEE42 Autosomal dominant 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 3 +601011 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ENSG00000141837 CACNA1A, CACNL1A4, SCA6, EIEE42 Autosomal dominant 183086 Spinocerebellar ataxia 6 3 +610055 CC2D1A Coiled-coil and C2 domain-containing 1A ENSG00000132024 CC2D1A, MRT3 Autosomal recessive 608443 Mental retardation, autosomal recessive 3 3 +601639 PRKACA Protein kinase, cAMP-dependent, catalytic, alpha ENSG00000072062 PRKACA 615830 Cushing syndrome, ACTH-independent adrenal, somatic 3 +610057 TECR Trans-2,3-enoyl-CoA reductase ENSG00000099797 TECR, GPSN2, TER, SC2, MRT14 Autosomal recessive 614020 Mental retardation, autosomal recessive 14 3 +606100 ADGRE2 Adhesion G protein-coupled receptor E2 ENSG00000127507 ADGRE2, EMR2, VBU Autosomal dominant 125630 Vibratory urticaria 3 +600276 NOTCH3 Notch, Drosophila, homolog of, 3 ENSG00000074181 NOTCH3, CADASIL1, CASIL, IMF2, LMNS mutation identified in 1 IMF2 family Autosomal dominant 125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 3 +600276 NOTCH3 Notch, Drosophila, homolog of, 3 ENSG00000074181 NOTCH3, CADASIL1, CASIL, IMF2, LMNS mutation identified in 1 IMF2 family Autosomal dominant 130720 Lateral meningocele syndrome 3 +600276 NOTCH3 Notch, Drosophila, homolog of, 3 ENSG00000074181 NOTCH3, CADASIL1, CASIL, IMF2, LMNS mutation identified in 1 IMF2 family Autosomal dominant 615293 ?Myofibromatosis, infantile 2 3 +611495 CYP4F22 Cytochrome P450, family 4, subfamily F, polypeptide 22 ENSG00000171954 CYP4F22, ARCI5, LI3 Autosomal recessive 604777 Ichthyosis, congenital, autosomal recessive 5 3 +611414 CALR3 Calreticulin 3 ENSG00000269058 CALR3, CRT2, CMH19 mutation identified in 1 CMH19 patient Autosomal dominant 613875 ?Cardiomyopathy, hypertrophic, 19 3 +602129 MYO9B Myosin IXB ENSG00000099331 MYO9B, MYR5, CELIAC4 609753 Celiac disease, susceptibility to, 4 3 +608536 GTPBP3 GTP-binding protein 3 ENSG00000130299 GTPBP3, MSS1, COXPD23 Autosomal recessive 616198 Combined oxidative phosphorylation deficiency 23 3 +146738 INSL3 Insulin-like 3, Leydig cell ENSG00000248099 INSL3 Autosomal dominant 219050 Cryptorchidism 3 +600173 JAK3 Janus kinase 3 (Janus kinase, leukocyte) ENSG00000105639 JAK3, JAKL Autosomal recessive 600802 SCID, autosomal recessive, T-negative/B-positive type 3 +601843 SLC5A5 Solute carrier family 5 (sodium iodide symporter), member-5 ENSG00000105641 SLC5A5, NIS, TDH1 Autosomal recessive 274400 Thyroid dyshormonogenesis 1 3 +601604 IL12RB1 Interleukin-12 receptor, beta-1 ENSG00000096996 IL12RB1, IMD30 Autosomal recessive 614891 Immunodeficiency 30 3 +603157 PIK3R2 Phosphatidylinositol 3-kinase, regulatory subunit 2 ENSG00000105647 PIK3R2, MPPH1 Autosomal dominant 603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 3 +604237 CRLF1 Cytokine-like factor 1 ENSG00000006016 CRLF1, CISS1 Autosomal recessive 272430 Cold-induced sweating syndrome 1 3 +607536 CRTC1 CREB-regulated transcription coactivator 1 ENSG00000105662 CRTC1, MECT1, KIAA0616, FLJ14027 t(11;19) Mucoepidermoid salivary gland carcinoma 3 +600310 COMP Cartilage oligomeric matrix protein ENSG00000105664 COMP, EDM1, MED, PSACH Autosomal dominant 132400 Epiphyseal dysplasia, multiple, 1 3 +600310 COMP Cartilage oligomeric matrix protein ENSG00000105664 COMP, EDM1, MED, PSACH Autosomal dominant 177170 Pseudoachondroplasia 3 +606919 CERS1 Ceramide synthase 1 ENSG00000223802 CERS1, LASS1, UOG1, EPM8 mutation identified in 1 EPM8 family Autosomal recessive 616230 ?Epilepsy, progressive myoclonic, 8 3 +602880 GDF1 Growth/differentiation factor 1 ENSG00000223802 GDF1, DTGA3, DORV, RAI 217095 Double-outlet right ventricle 3 +602880 GDF1 Growth/differentiation factor 1 ENSG00000223802 GDF1, DTGA3, DORV, RAI Autosomal recessive 208530 Right atrial isomerism 3 +602880 GDF1 Growth/differentiation factor 1 ENSG00000223802 GDF1, DTGA3, DORV, RAI Autosomal dominant 187500 Tetralogy of Fallot 3 +602880 GDF1 Growth/differentiation factor 1 ENSG00000223802 GDF1, DTGA3, DORV, RAI Autosomal dominant 613854 Transposition of great arteries, dextro-looped 3 3 +603200 RFXANK Regulatory factor X, ankyrin repeat-containing ENSG00000064490 RFXANK Autosomal recessive 209920 MHC class II deficiency, complementation group B 3 +609435 NDUFA13 NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 13 ENSG00000186010 NDUFA13, GRIM19 607464 Thyroid carcinoma, Hurthle cell 3 +601764 Benign familial infantile seizures BFIS1, BFIC1 Autosomal dominant 601764 Seizures, benign familial infantile, 1 2 +607592 Prostate cancer aggressiveness quantitative trait locus on chromosome 19 HPCQTL19 D19S902 Autosomal dominant 176807 Prostate cancer aggressiveness QTL 2 +606712 Specific language impairment QTL, 2 SLI2 Multifactorial 606712 Specific language impairment QTL, 2 2 +606875 Hirschsprung disease, susceptibility to, 7 HSCR7 606875 Hirschsprung disease, susceptibility to, 7 2 +614297 C19orf12 Chromosome 19 open reading frame 12 ENSG00000131943 C19orf12, NBIA4, SPG43 mutation identified in 1 SPG43 family Autosomal recessive 614298 Neurodegeneration with brain iron accumulation 4 3 +614297 C19orf12 Chromosome 19 open reading frame 12 ENSG00000131943 C19orf12, NBIA4, SPG43 mutation identified in 1 SPG43 family Autosomal recessive 615043 ?Spastic paraplegia 43, autosomal recessive 3 +100070 Aortic aneurysm, familial abdominal 1 AAA1, AAA near D19S416 Autosomal dominant 100070 Aortic aneurysm, familial abdominal 1 2 +608542 ANIB2 Aneurysm, intracranial berry, 2 ANIB2 between D19S245 and D19S246 608542 Aneurysm, intracranial berry, 2 2 +609376 Cataract 35 CTRCT35, CATCN1 max lod at D19S416 Autosomal recessive 609376 Cataract 35, congenital nuclear 2 +613026 Chromosome 19q13.11 deletion syndrome DEL19q13.11, C19DELq13.11 contiguous gene syndrome Isolated cases 613026 Chromosome 19q13.11 deletion syndrome 4 +611907 Episodic ataxia, type 7 EA7 between rs1366444 and rs952108 Autosomal dominant 611907 Episodic ataxia, type 7 2 +600757 OFC3 Orofacial cleft-3 OFC3 ?role of BCL3 ?Autosomal dominant 600757 Orofacial cleft-3 2 +614746 Uric acid concentration, serum, quantitative trait locus 5 UAQTL5 associated with rs150414818 614746 Uric acid concentration, serum, QTL5 2 +607814 RGS9BP Regulator of G protein signaling 9-binding protein ENSG00000186326 RGS9BP, R9AP, RGS9, PERRS 608415 Bradyopsia 3 +604144 SLC7A9 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 ENSG00000021488 SLC7A9, CSNU3 Autosomal recessive, Autosomal dominant 220100 Cystinuria 3 +116897 CEBPA CCAAT/enhancer-binding protein (C/EBP), alpha ENSG00000245848 CEBPA, CEBP germline mutation identified in 1 AML family Autosomal dominant 601626 ?Leukemia, acute myeloid 3 +116897 CEBPA CCAAT/enhancer-binding protein (C/EBP), alpha ENSG00000245848 CEBPA, CEBP germline mutation identified in 1 AML family 601626 Leukemia, acute myeloid, somatic 3 +613230 PEPD Peptidase D (prolidase) ENSG00000124299 PEPD closely linked to APOC2 Autosomal recessive 170100 Prolidase deficiency 3 +610190 CHST8 Carbohydrate sulfotransferase 8 ENSG00000124302 CHST8, GALNAC4ST1, PSS3 mutation has been identified in 1 PSS3 family Autosomal recessive 616265 ?Peeling skin syndrome 3 3 +172400 GPI Glucose phosphate isomerase; neuroleukin ENSG00000105220 GPI Autosomal recessive 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 3 +600235 SCN1B Sodium channel, voltage-gated, type I, beta polypeptide ENSG00000105711 SCN1B, GEFSP1, BRGDA5, ATFB13 Autosomal dominant 615377 Atrial fibrillation, familial, 13 3 +600235 SCN1B Sodium channel, voltage-gated, type I, beta polypeptide ENSG00000105711 SCN1B, GEFSP1, BRGDA5, ATFB13 612838 Brugada syndrome 5 3 +600235 SCN1B Sodium channel, voltage-gated, type I, beta polypeptide ENSG00000105711 SCN1B, GEFSP1, BRGDA5, ATFB13 612838 Cardiac conduction defect, nonspecific 3 +600235 SCN1B Sodium channel, voltage-gated, type I, beta polypeptide ENSG00000105711 SCN1B, GEFSP1, BRGDA5, ATFB13 Autosomal dominant 604233 Epilepsy, generalized, with febrile seizures plus, type 1 3 +606464 HAMP Hepcidin antimicrobial peptide ENSG00000105697 HAMP, LEAP1, HEPC, HFE2B digenic form with HAMP and HFE mutations 613313 Hemochromatosis, type 2B 3 +159460 MAG Myelin-associated glycoprotein ENSG00000105695 MAG, GMA, SPG75 Autosomal recessive 616680 Spastic paraplegia 75, autosomal recessive 3 +124089 COX6B1 Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous) ENSG00000126267 COX6B1 Autosomal recessive, Mitochondrial 220110 Mitochondrial complex IV deficiency 3 +607632 PSENEN Presenilin enhancer 2, C. elegans, homolog of ENSG00000205155 PSENEN, PEN2 Autosomal dominant 613736 Acne inversa, familial, 2 3 +602716 NPHS1 Nephrin ENSG00000161270 NPHS1, NPHN Autosomal recessive 256300 Nephrotic syndrome, type 1 3 +604142 TYROBP TYRO protein tyrosine kinase-binding protein ENSG00000011600 TYROBP, PLOSL, DAP12 Autosomal recessive 221770 Nasu-Hakola disease 3 +612848 SDHAF1 Succinate dehydrogenase complex assembly factor 1 ENSG00000205138 SDHAF1 Autosomal recessive 252011 Mitochondrial complex II deficiency 3 +615535 SYNE4 Spectrin repeat-containing nuclear envelope protein 4 ENSG00000181392 SYNE4, NESP4, C19orf46, DFNB76 Autosomal recessive 615540 Deafness, autosomal recessive 76 3 +613583 WDR62 WD repeat-containing protein 62 ENSG00000075702 WDR62, C19orf14, MCPH2 Autosomal recessive 604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 3 +616655 SIPA1L3 SIPA1-like protein 3 ENSG00000105738 SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45 mutation identified in 1 CTRCT45 family Autosomal recessive 616851 ?Cataract 45 3 +603855 CFM1 Cystic fibrosis modifier-1 CFM1 603855 Meconium ileus in cystic fibrosis, susceptibility to 2 +611097 MRT11 Mental retardation, autosomal recessive, 11 MRT11 between rs2109075 and rs8101149 Autosomal recessive 611097 Mental retardation, autosomal recessive, 11 2 +227050 Transient erythroblastopenia of childhood TEC Autosomal recessive 227050 Transient erythroblastopenia of childhood 2 +605124 SPINT2 Serine protease inhibitor, Kunitz-type, 2 (hepatocyte growth factor activator inhibitor 2; bikunin, placental) ENSG00000167642 SPINT2, HAI2, DIAR3 Autosomal recessive 270420 Diarrhea 3, secretory sodium, congenital, syndromic 3 +180901 RYR1 Ryanodine receptor-1, skeletal ENSG00000196218 RYR1, MHS, CCO Autosomal recessive, Autosomal dominant 117000 Central core disease 3 +180901 RYR1 Ryanodine receptor-1, skeletal ENSG00000196218 RYR1, MHS, CCO Autosomal dominant 145600 King-Denborough syndrome 3 +180901 RYR1 Ryanodine receptor-1, skeletal ENSG00000196218 RYR1, MHS, CCO Autosomal dominant 145600 Malignant hyperthermia susceptibility 1 3 +180901 RYR1 Ryanodine receptor-1, skeletal ENSG00000196218 RYR1, MHS, CCO Autosomal recessive 255320 Minicore myopathy with external ophthalmoplegia 3 +180901 RYR1 Ryanodine receptor-1, skeletal ENSG00000196218 RYR1, MHS, CCO Autosomal recessive, Autosomal dominant 117000 Neuromuscular disease, congenital, with uniform type 1 fiber 3 +604638 ACTN4 Actinin, alpha-4 ENSG00000282844 ACTN4, FSGS1, FSGS Autosomal dominant 603278 Glomerulosclerosis, focal segmental, 1 3 +612804 SARS2 Seryl-tRNA synthetase 2 ENSG00000283104 SARS2 Autosomal recessive 613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 3 +607402 IFNL3 Interferon, lambda 3 ENSG00000197110 IFNL3, IL28B 609532 Hepatitis C virus infection, response to therapy of 3 +611893 PLEKHG2 Pleckstrin homology domain-containing protein, family G, member 2 ENSG00000090924 PLEKHG2, CLG, LDAMD Autosomal recessive 616763 Leukodystrophy and acquired microcephaly with or without dystonia 3 +602768 DLL3 Delta, Drosophila, homolog of ENSG00000090932 DLL3, SCDO1 Autosomal recessive 277300 Spondylocostal dysostosis 1, autosomal recessive 3 +604556 DYRK1B Dual-specificity tyrosine phosphorylation-regulated kinase 1B ENSG00000281320 DYRK1B, MIRK, AOMS3 Autosomal dominant 615812 Abdominal obesity-metabolic syndrome 3 3 +164731 AKT2 Murine thymoma viral (v-akt) homolog-2 ENSG00000105221 AKT2, HIHGHH Autosomal dominant 125853 Diabetes mellitus, type II 3 +164731 AKT2 Murine thymoma viral (v-akt) homolog-2 ENSG00000105221 AKT2, HIHGHH Autosomal dominant 240900 Hypoinsulinemic hypoglycemia with hemihypertrophy 3 +605725 PRX Periaxin ENSG00000105227 PRX, CMT4F Autosomal recessive 614895 Charcot-Marie-Tooth disease, type 4F 3 +605725 PRX Periaxin ENSG00000105227 PRX, CMT4F Autosomal recessive, Autosomal dominant 145900 Dejerine-Sottas disease 3 +604710 LTBP4 Latent transforming growth factor-beta-binding protein 4 ENSG00000090006 LTBP4, LTBP4S, LTBP4L, ARCL1C Autosomal recessive 613177 Cutis laxa, autosomal recessive, type IC 3 +615567 COQ8B AARF domain-containing kinase 4 ENSG00000123815 ADCK4, NPHS9 Autosomal recessive 615573 Nephrotic syndrome, type 9 3 +606476 ITPKC Inositol 1,4,5-trisphosphate 3-kinase C ENSG00000086544 ITPKC 611775 Kawasaki disease, susceptibility to 3 +122720 CYP2A6 Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 ENSG00000255974 CYP2A6, CYP2A3, CYP2A, P450C2A Autosomal dominant 122700 Coumarin resistance 3 +122720 CYP2A6 Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 ENSG00000255974 CYP2A6, CYP2A3, CYP2A, P450C2A Autosomal recessive 211980 Lung cancer, resistance to 3 +122720 CYP2A6 Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 ENSG00000255974 CYP2A6, CYP2A3, CYP2A, P450C2A 188890 Nicotine addiction, protection from 3 +123930 CYP2B6 Cytochrome P450, family 2, subfamily B, polypeptide 6 ENSG00000197408 CYP2B6, CYP2B, EFVM same NotI fragment as CYP2A 614546 Efavirenz central nervous system toxicity, susceptibility to 3 +123930 CYP2B6 Cytochrome P450, family 2, subfamily B, polypeptide 6 ENSG00000197408 CYP2B6, CYP2B, EFVM same NotI fragment as CYP2A 614546 Efavirenz, poor metabolism of 3 +190180 TGFB1 Transforming growth factor, beta-1 ENSG00000105329 TGFB1, DPD1, CED Autosomal dominant 131300 Camurati-Engelmann disease 3 +190180 TGFB1 Transforming growth factor, beta-1 ENSG00000105329 TGFB1, DPD1, CED Autosomal recessive 219700 Cystic fibrosis lung disease, modifier of 3 +611951 B9D2 B9 domain-containing protein 2 ENSG00000123810 B9D2, MKS10 Autosomal recessive 614175 Meckel syndrome 10 3 +608348 BCKDHA Branched chain keto acid dehydrogenase E1, alpha polypeptide ENSG00000248098 BCKDHA, MSUD1 Autosomal recessive 248600 Maple syrup urine disease, type Ia 3 +603474 RPS19 Ribosomal protein S19 ENSG00000105372 RPS19, DBA, DBA1 Autosomal dominant 105650 Diamond-Blackfan anemia 1 3 +112205 CD79A CD79A antigen (immunoglobulin-associated alpha) ENSG00000105369 CD79A, IGA Autosomal recessive 613501 Agammaglobulinemia 3 3 +182350 ATP1A3 ATPase, Na+K+ transporting, alpha-3 polypeptide ENSG00000105409 ATP1A3, DYT12, RDP, AHC2, CAPOS Autosomal dominant 614820 Alternating hemiplegia of childhood 2 3 +182350 ATP1A3 ATPase, Na+K+ transporting, alpha-3 polypeptide ENSG00000105409 ATP1A3, DYT12, RDP, AHC2, CAPOS Autosomal dominant 601338 CAPOS syndrome 3 +182350 ATP1A3 ATPase, Na+K+ transporting, alpha-3 polypeptide ENSG00000105409 ATP1A3, DYT12, RDP, AHC2, CAPOS Autosomal dominant 128235 Dystonia-12 3 +611888 ERF ETS2 repressor factor ENSG00000105722 ERF, PE2, CRS4 Autosomal dominant 600775 Craniosynostosis 4 3 +604267 MEGF8 Multiple epidermal growth factor-like domains 8 ENSG00000105429 MEGF8, EGFL4, CRPT2 Autosomal recessive 614976 Carpenter syndrome 2 3 +151750 LIPE Lipase, hormone-sensitive ENSG00000079435 LIPE, LHS, FPLD6 Autosomal recessive 615980 Lipodystrophy, familial partial, type 6 3 +608451 ETHE1 ETHE1 gene ENSG00000105755 ETHE1, HSCO, D83198 Autosomal recessive 602473 Ethylmalonic encephalopathy 3 +613176 SMG9 Chromosome 19 open reading frame 61 ENSG00000105771 C19orf61, SMG9, HBMS Autosomal recessive 616920 Heart and brain malformation syndrome 3 +602754 KCNN4 Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ENSG00000104783 KCNN4, KCA4, SK4, DHS2 Autosomal dominant 616689 Dehydrated hereditary stomatocytosis 2 3 +614591 CEACAM16 Carcinoembryonic antigen-related cell adhesion molecule 16 ENSG00000213892 CEACAM16, CEAL2, DFNA4B Autosomal dominant 614614 Deafness, autosomal dominant 4B 3 +109560 BCL3 B-cell CLL/lymphoma-3 ENSG00000069399 BCL3 109560 Leukemia/lymphoma, B-cell, 3 2 +612773 BCAM B-cell adhesion molecule ENSG00000187244 LU, AU, BCAM linked to SE 111200 Blood group, Auberger system 3 +612773 BCAM B-cell adhesion molecule ENSG00000187244 LU, AU, BCAM linked to SE Autosomal recessive 247420 Blood group, Lutheran null 3 +612773 BCAM B-cell adhesion molecule ENSG00000187244 LU, AU, BCAM linked to SE 111200 Blood group, Lutheran system 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 Autosomal dominant 104310 Alzheimer disease-2 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 Hyperlipoproteinemia, type III 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 611771 Lipoprotein glomerulopathy 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 Autosomal dominant 603075 ?Macular degeneration, age-related 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 Myocardial infarction susceptibility 3 +107741 APOE Apolipoprotein E ENSG00000130203 APOE, AD2, LPG, LDLCQ5 possible 2nd locus for AD2 on chr.19 Autosomal recessive 269600 Sea-blue histiocyte disease 3 +608083 APOC2 Apolipoprotein C-II ENSG00000224916 APOC2 Autosomal recessive 207750 Hyperlipoproteinemia, type Ib 3 +609762 BLOC1S3 Biogenesis of lysosome-related organelles complex 1, subunit 3 ENSG00000189114 BLOC1S3, BLOS3, HPS8 614077 Hermansky-Pudlak syndrome 8 3 +126340 ERCC2 Excision repair cross complementing rodent repair deficiency, complementation group-2 ENSG00000104884 ERCC2, EM9, XPD, COFS2, TTD1 < 250kb from ERCC1 610756 Cerebrooculofacioskeletal syndrome 2 3 +126340 ERCC2 Excision repair cross complementing rodent repair deficiency, complementation group-2 ENSG00000104884 ERCC2, EM9, XPD, COFS2, TTD1 < 250kb from ERCC1 Autosomal recessive 601675 Trichothiodystrophy 1, photosensitive 3 +126340 ERCC2 Excision repair cross complementing rodent repair deficiency, complementation group-2 ENSG00000104884 ERCC2, EM9, XPD, COFS2, TTD1 < 250kb from ERCC1 Autosomal recessive 278730 Xeroderma pigmentosum, group D 3 +126380 ERCC1 Excision repair cross complementing rodent repair deficiency, complementation group-1 ENSG00000012061 ERCC1, UV20, COFS4 distal to CKM Autosomal recessive 610758 Cerebrooculofacioskeletal syndrome 4 3 +603183 RTN2 Reticulon-2 ENSG00000125744 RTN2, NSPL1, SPG12 Autosomal dominant 604805 Spastic paraplegia 12, autosomal dominant 3 +606580 OPA3 OPA3 gene ENSG00000125741 OPA3, MGA3 Autosomal recessive 258501 3-methylglutaconic aciduria, type III 3 +606580 OPA3 OPA3 gene ENSG00000125741 OPA3, MGA3 Autosomal dominant 165300 Optic atrophy 3 with cataract 3 +137241 GIPR Gastric inhibitory polypeptide receptor ENSG00000010310 GIPR, PGQTL2 137241 Plasma glucose, 2-hour, QTL 2 2 +600963 SIX5 Sine oculis homeo box, Drosophila, homolog of, 5 ENSG00000177045 SIX5, DMAHP, BOR2 610896 Branchiootorenal syndrome 2 3 +605377 DMPK Dystrophia myotonica-protein kinase ENSG00000104936 DMPK, DM, DMK distal to APOLP2; distal to CKM Autosomal dominant 160900 Myotonic dystrophy 1 3 +614145 CCDC8 Coiled-coil domain-containing protein 8 ENSG00000169515 CCDC8, 3M3 Autosomal recessive 614205 3-M syndrome 3 3 +606596 FKRP Fukutin-related protein ENSG00000181027 FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 Autosomal recessive 613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 3 +606596 FKRP Fukutin-related protein ENSG00000181027 FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 Autosomal recessive 606612 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 3 +606596 FKRP Fukutin-related protein ENSG00000181027 FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5 Autosomal recessive 607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 3 +602242 AP2S1 Adaptor-related protein complex 2, sigma 1 subunit ENSG00000042753 AP2S1, CLAPS2, AP17, HHC3 Autosomal dominant 600740 Hypocalciuric hypercalcemia, familial, type III 3 +615620 KPTN Kaptin ENSG00000118162 KPTN, 2E4, MRT41 Autosomal recessive 615637 Mental retardation, autosomal recessive 41 3 +602225 CRX Cone-rod homeo box-containing gene ENSG00000105392 CRX, CORD2, CRD, LCA7 Autosomal dominant 120970 Cone-rod retinal dystrophy-2 3 +602225 CRX Cone-rod homeo box-containing gene ENSG00000105392 CRX, CORD2, CRD, LCA7 613829 Leber congenital amaurosis 7 3 +126391 LIG1 Ligase I, DNA, ATP-dependent ENSG00000105486 LIG1 DNA ligase I deficiency 3 +615038 CCDC114 Coiled-coil domain-containing protein 114 ENSG00000105479 CCDC114, CILD20 Autosomal recessive 615067 Ciliary dyskinesia, primary, 20 3 +182100 FUT2 Fucosyltransferase-2 (secretor) ENSG00000176920 FUT2, SE, B12QTL1 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 Bombay phenotype 3 +182100 FUT2 Fucosyltransferase-2 (secretor) ENSG00000176920 FUT2, SE, B12QTL1 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 Norwalk virus infection, resistance to 3 +182100 FUT2 Fucosyltransferase-2 (secretor) ENSG00000176920 FUT2, SE, B12QTL1 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 612542 Vitamin B12 plasma level QTL1 3 +211100 FUT1 Fucosyltransferase-1 (Bombay phenotype) ENSG00000174951 FUT1, H, HH SE tightly linked Autosomal recessive 616754 Bombay phenotype 3 +113530 BCAT2 Branched chain aminotransferase-2, mitochondrial ENSG00000105552 BCAT2, BCT2 ?Hypervalinemia or hyperleucine-isoleucinemia 1 +600040 BAX BCL2-associated X protein ENSG00000087088 BAX 114500 Colorectal cancer, somatic 3 +600040 BAX BCL2-associated X protein ENSG00000087088 BAX 613065 T-cell acute lymphoblastic leukemia, somatic 3 +134790 FTL Ferritin, light chain ENSG00000087086 FTL, NBIA3, LFTD Autosomal dominant 600886 Hyperferritinemia-cataract syndrome 3 +134790 FTL Ferritin, light chain ENSG00000087086 FTL, NBIA3, LFTD Autosomal recessive, Autosomal dominant 615604 L-ferritin deficiency, dominant and recessive 3 +134790 FTL Ferritin, light chain ENSG00000087086 FTL, NBIA3, LFTD Autosomal dominant 606159 Neurodegeneration with brain iron accumulation 3 3 +138570 GYS1 Glycogen synthase ENSG00000104812 GYS1, GYS Autosomal recessive 611556 Glycogen storage disease 0, muscle 3 +152780 LHB Luteinizing hormone, beta polypeptide ENSG00000104826 LHB, HH23 beta chains of FSH, TSH on 11p, 1p, respectively Autosomal recessive 228300 Hypogonadotropic hypogonadism 23 with or without anosmia 3 +162662 NTF4 Neurotrophin-4 (neurotrophin-4/5) ENSG00000225950 NTF4 , NTF5, NT5, NT4, GLC1O 3 genes, ? functional, also on 19 613100 Glaucoma 1, open angle, 1O 3 +606936 TRPM4 Transient receptor potential cation channel, subfamily M, member 4 ENSG00000130529 TRPM4, PFHB1B Autosomal dominant 604559 Progressive familial heart block, type IB 3 +603734 IRF3 Interferon regulatory factor 3 ENSG00000126456 IRF3, IIAE7 mutation identified in one IIAE7 patient Autosomal dominant 616532 ?Herpes simplex encephalitis, susceptibility to, 7 3 +608846 CPT1C Carnitine palmitoyltransferase IC ENSG00000169169 CPT1C, SPG73 mutation identified in 1 SPG73 family Autosomal dominant 616282 ?Spastic paraplegia 73, autosomal dominant 3 +610622 FUZ Fuzzy, Drosophila, homolog of ENSG00000010361 FUZ, NTD Autosomal dominant 182940 Neural tube defects 3 +610197 MED25 Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of ENSG00000104973 MED25, PTOV2, ARC92, CMT2B2, BVSYS mutation identified in 1 CMT2B2 family Autosomal recessive 616449 Basel-Vanagait-Smirin-Yosef syndrome 3 +610197 MED25 Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of ENSG00000104973 MED25, PTOV2, ARC92, CMT2B2, BVSYS mutation identified in 1 CMT2B2 family Autosomal recessive 605589 ?Charcot-Marie-Tooth disease, type 2B2 3 +605610 PNKP Polynucleotide kinase 3' phosphatase ENSG00000039650 PNKP, PNK, MCSZ, EIEE10, MCSZ, AOA4 Autosomal recessive 616267 Ataxia-oculomotor apraxia 4 3 +605610 PNKP Polynucleotide kinase 3' phosphatase ENSG00000039650 PNKP, PNK, MCSZ, EIEE10, MCSZ, AOA4 Autosomal recessive 613402 Microcephaly, seizures, and developmental delay 3 +605815 NUP62 Nucleoporin, 62-kD ENSG00000213024 NUP62, SNDI, IBSN Autosomal recessive 271930 Striatonigral degeneration, infantile 3 +608568 MYH14 Myosin, heavy chain 14, nonmuscle ENSG00000105357 MYH14, KIAA2034, DFNA4A, PNMHH mutation identified in 1 PNMHH family Autosomal dominant 600652 Deafness, autosomal dominant 4A 3 +608568 MYH14 Myosin, heavy chain 14, nonmuscle ENSG00000105357 MYH14, KIAA2034, DFNA4A, PNMHH mutation identified in 1 PNMHH family Autosomal dominant 614369 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 3 +176264 KCNC3 Potassium voltage-gated channel, Shaw-related subfamily, member 3 ENSG00000131398 KCNC3, SCA13 Autosomal dominant 605259 Spinocerebellar ataxia 13 3 +174761 POLD1 Polymerase (DNA directed), delta 1, catalytic subunit ENSG00000062822 POLD1, CRCS10, MDPL Autosomal dominant 612591 Colorectal cancer, susceptibility to, 10 3 +174761 POLD1 Polymerase (DNA directed), delta 1, catalytic subunit ENSG00000062822 POLD1, CRCS10, MDPL Autosomal dominant 615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 3 +147910 KLK1 Kallikrein 1 ENSG00000167748 KLK1, KLKR ~10cM distal to APOC2 615953 Kallikrein, decreased urinary activity of 3 +611959 Prostate cancer, hereditary, 15 HPC15 associated with rs2735839 611959 Prostate cancer, hereditary, 15 2 +612884 Menopause, natural, age at, QTL2 MENOQ2 associated with rs1172822, rs2384687, rs1551562, rs897798 612884 Menopause, natural, age at, QTL2 2 +603767 KLK4 Kallikrein-related peptidase 4 ENSG00000167749 KLK4, EMSP1, PRSS17, AI2A1 Autosomal recessive 204700 Amelogenesis imperfecta, type IIA1 3 +130410 ETFB Electron transfer flavoprotein, beta polypeptide ENSG00000105379 ETFB, MADD Autosomal recessive 231680 Glutaric acidemia IIB 3 +154045 LIM2 Lens intrinsic protein 2, 19kD ENSG00000105370 LIM2, MP19, CTRCT19 same cosmid as ETFB Autosomal recessive 615277 Cataract 19, multiple types 3 +605983 PPP2R1A Protein phosphatase 2, structural/regulatory subunit A, alpha ENSG00000105568 PPP2R1A, MRD36 Autosomal dominant 616362 Mental retardation, autosomal dominant 36 3 +609648 NLRP12 NLR family, pyrin domain containing 12 ENSG00000142405 NLRP12, NALP12, PYPAF7, RNO, FCAS2 Autosomal dominant 611762 Familial cold autoinflammatory syndrome 2 3 +176980 PRKCG Protein kinase C, gamma polypeptide ENSG00000126583 PRKCG, PKCC, PKCG, SCA14 Autosomal dominant 605361 Spinocerebellar ataxia 14 3 +606419 PRPF31 Precursor RNA-processing factor 31, S. cerevisiae, homolog of ENSG00000105618 PRPF31, PRP31, RP11 Autosomal dominant 600138 Retinitis pigmentosa 11 3 +608754 TSEN34 tRNA splicing endonuclease 34, S. cerevisiae, homolog of ENSG00000274129 TSEN34, PCH2C, LENG5, SEN34 mutation identified in 1 PCH2C patient 612390 ?Pontocerebellar hypoplasia type 2C 3 +604946 KIR3DL1 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 ENSG00000278427 KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1 609423 AIDS, delayed/rapid progression to 3 +609661 NLRP7 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 7 ENSG00000167634 NALP7, NOD12, PYPAF3, HYDM Autosomal recessive 231090 Hydatidiform mole, recurrent, 1 3 +605546 GP6 Glycoprotein VI, platelet ENSG00000088053 GP6, GPIV, BDPLT11 Autosomal recessive 614201 Bleeding disorder, platelet-type, 11 3 +191041 TNNT1 Troponin-T1, skeletal, slow ENSG00000105048 TNNT1, ANM, NEM5 Autosomal recessive 605355 Nemaline myopathy 5, Amish type 3 +191044 TNNI3 Troponin-I, cardiac ENSG00000129991 TNNI3, CMH7, CMD2A, RCM1, CMD1FF mutation identified in 1 CMD2A family 613286 Cardiomyopathy, dilated, 1FF 3 +191044 TNNI3 Troponin-I, cardiac ENSG00000129991 TNNI3, CMH7, CMD2A, RCM1, CMD1FF mutation identified in 1 CMD2A family Autosomal recessive 611880 ?Cardiomyopathy, dilated, 2A 3 +191044 TNNI3 Troponin-I, cardiac ENSG00000129991 TNNI3, CMH7, CMD2A, RCM1, CMD1FF mutation identified in 1 CMD2A family Autosomal dominant 115210 Cardiomyopathy, familial restrictive, 1 3 +191044 TNNI3 Troponin-I, cardiac ENSG00000129991 TNNI3, CMH7, CMD2A, RCM1, CMD1FF mutation identified in 1 CMD2A family Autosomal dominant 613690 Cardiomyopathy, hypertrophic, 7 3 +614566 DNAAF3 Dynein, axonemal, assembly factor 3 ENSG00000167646 DNAAF3, PF22, DAB1, CILD2 Autosomal recessive 606763 Ciliary dyskinesia, primary, 2 3 +603495 AURKC Aurora kinase C ENSG00000105146 AURKC, STK13, AIE2, SPGF5 Autosomal recessive 243060 Spermatogenic failure 5 3 +607116 Alzheimer disease 8 AD8 ?related to CST3 607116 Alzheimer disease 8 2 +608031 ALS7 Amyotrophic lateral sclerosis 7 ALS7 max lod at D20S103 608031 Amyotrophic lateral sclerosis 7 2 +605804 Dermatitis, atopic, 3 ATOD3 max lod at D20S115 605804 Dermatitis, atopic, susceptibility to, 3 2 +608559 BMIQ6 Body mass index quantitative trait locus 6 BMIQ6 near D20S482 and D20S851 608559 Body mass index QTL6 2 +611242 Restless legs syndrome, susceptibility to, 5 RLS5 max lod at D20S849 611242 Restless legs syndrome 5 2 +610924 RBCK1 RANBP-type and C3HC4-type zinc finger-containing 1 ENSG00000125826 RBCK1, HOIL1, PGBM1, PBMEI Autosomal recessive 615895 Polyglucosan body myopathy 1 with or without immunodeficiency 3 +611663 TBC1D20 TBC1 domain family, member 20 ENSG00000125875 TBC1D20, C20orf140, WARBM4 Autosomal recessive 615663 Warburg micro syndrome 4 3 +115440 CSNK2A1 Casein kinase-2, alpha-1 polypeptide ENSG00000101266 CSNK2A1, CK2A1, OCNDS pseudogene on 11p15 Autosomal dominant 617062 Okur-Chung neurodevelopmental syndrome 3 +613350 SLC52A3 Solute carrier family 52, riboflavin transporter, member 3 ENSG00000101276 SLC52A3, C20orf54, RFT2, BVVLS1 Autosomal recessive 211530 Brown-Vialetto-Van Laere syndrome 1 3 +613350 SLC52A3 Solute carrier family 52, riboflavin transporter, member 3 ENSG00000101276 SLC52A3, C20orf54, RFT2, BVVLS1 Autosomal recessive 211500 Fazio-Londe disease 3 +610573 RSPO4 R-spondin family, member 4 ENSG00000101282 RSPO4, CRISTIN4 Autosomal recessive 206800 Anonychia congenita 3 +131340 PDYN Prodynorphin ENSG00000101327 PDYN, SCA23 Autosomal dominant 610245 Spinocerebellar ataxia 23 3 +613900 TGM6 Transglutaminase 6 ENSG00000166948 TGM6, TG6, TGY, SCA35 Autosomal dominant 613908 Spinocerebellar ataxia 35 3 +182282 SNRPB Small nuclear ribonucleoprotein polypeptides B and B1 ENSG00000125835 SNRPB, CCMS Autosomal recessive, Autosomal dominant 117650 Cerebrocostomandibular syndrome 3 +614154 NOP56 Nop56, S. cerevisiae, homolog of ENSG00000101361 NOP56, SCA36 Autosomal dominant 614153 Spinocerebellar ataxia 36 3 +604526 IDH3B Isocitrate dehydrogenase 3, beta subunit ENSG00000101365 IDH3B, RP46 612572 Retinitis pigmentosa 46 3 +192340 AVP Arginine vasopressin (neurophysin II, antidiuretic hormone) ENSG00000101200 AVP, AVRP, VP distal 20p Autosomal dominant 125700 Diabetes insipidus, neurohypophyseal 3 +147520 ITPA Inosine triphosphatase-A ENSG00000125877 ITPA, EIEE35 Autosomal recessive 616647 Epileptic encephalopathy, early infantile, 35 3 +147520 ITPA Inosine triphosphatase-A ENSG00000125877 ITPA, EIEE35 613850 Inosine triphosphatase deficiency 3 +610206 SLC4A11 Solute carrier family 4 (sodium borate cotransporter), member 11 ENSG00000088836 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 613268 Corneal dystrophy, Fuchs endothelial, 4 3 +610206 SLC4A11 Solute carrier family 4 (sodium borate cotransporter), member 11 ENSG00000088836 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 Autosomal recessive 217400 Corneal endothelial dystrophy and perceptive deafness 3 +610206 SLC4A11 Solute carrier family 4 (sodium borate cotransporter), member 11 ENSG00000088836 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 Autosomal recessive 217700 Corneal endothelial dystrophy, autosomal recessive 3 +606157 PANK2 Pantothenate kinase 2 ENSG00000125779 PANK2, NBIA1, PKAN, HARP Autosomal recessive 607236 HARP syndrome 3 +606157 PANK2 Pantothenate kinase 2 ENSG00000125779 PANK2, NBIA1, PKAN, HARP Autosomal recessive 234200 Neurodegeneration with brain iron accumulation 1 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 137440 Cerebral amyloid angiopathy, PRNP-related 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 123400 Creutzfeldt-Jakob disease 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 137440 Gerstmann-Straussler disease 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 603218 Huntington disease-like 1 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 600072 Insomnia, fatal familial 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen 245300 Kuru, susceptibility to 3 +176640 PRNP Prion protein (p27-30) ENSG00000171867 PRNP, PRIP, KURU, CJD pter-PRNP-SCG1-BMP2A-PAX1-cen Autosomal dominant 606688 Prion disease with protracted course 3 +611738 Bone mineral density QTL 7 BMND7 most significant association with haplotype C Autosomal dominant 166710 Osteoporosis 2 +612592 Colorectal cancer, susceptibility to, 11 CRCS11 associated with rs961253 612592 Colorectal cancer, susceptibility to, 11 2 +608696 GLC1K Glaucoma 1K, primary open angle, juvenile-onset GLC1K, JOAG3 between D20S189 and D20S104 608696 Glaucoma 1K, primary open angle, juvenile-onset 2 +610065 Systemic lupus erythematosus, susceptibility to, 7 SLEB7 610065 Systemic lupus erythematosus, susceptibility to, 7 2 +176740 PCNA Proliferating cell nuclear antigen ENSG00000132646 PCNA, ATLD2 pseudogenes on X and 6; mutation identified in one ATLD2 family Autosomal recessive 615919 ?Ataxia-telangiectasia-like disorder 3 +607123 PROKR2 Prokineticin receptor 2 ENSG00000101292 PROKR2, PKR2, GPR73L1, HH3 Autosomal dominant 244200 Hypogonadotropic hypogonadism 3 with or without anosmia 3 +608187 MCM8 Minichromosome maintenance complement component 8 ENSG00000125885 MCM8, POF10 mutation identified in 1 POF10 family Autosomal recessive 612885 ?Premature ovarian failure 10 3 +607900 FERMT1 Kindlin 1 ENSG00000101311 KIND1, URP1, C20orf42 Autosomal recessive 173650 Kindler syndrome 3 +112261 BMP2 Bone morphogenetic protein-2 ENSG00000125845 BMP2, BMP2A, BDA2 Autosomal dominant 112600 Brachydactyly, type A2 3 +112261 BMP2 Bone morphogenetic protein-2 ENSG00000125845 BMP2, BMP2A, BDA2 Autosomal recessive 235200 HFE hemochromatosis, modifier of 3 +607120 PLCB1 Phospholipase C, beta-1 ENSG00000182621 PLCB1, KIAA0581, PLCB1A, PLCB1B, EIEE12 Autosomal recessive 613722 Epileptic encephalopathy, early infantile, 12 3 +600810 PLCB4 Phospholipase C, beta 4 ENSG00000101333 PLCB4, ARCND2 Autosomal recessive, Autosomal dominant 614669 Auriculocondylar syndrome 2 3 +600322 SNAP25 Synaptosomal-associated protein, 25kD ENSG00000132639 SNAP25, CMS18 mutation identified in 1 CMS18 patient Autosomal dominant 616330 ?Myasthenic syndrome, congenital, 18 3 +604896 MKKS McKusick-Kaufman syndrome gene ENSG00000125863 MKKS, HMCS, KMS, MKS, BBS6 Autosomal recessive 605231 Bardet-Biedl syndrome 6 3 +604896 MKKS McKusick-Kaufman syndrome gene ENSG00000125863 MKKS, HMCS, KMS, MKS, BBS6 Autosomal recessive 236700 McKusick-Kaufman syndrome 3 +601920 JAG1 Jagged 1 ENSG00000101384 JAG1, AGS1, AHD mutation identified in 1 DFNCDPE family Autosomal dominant 118450 Alagille syndrome 1 3 +601920 JAG1 Jagged 1 ENSG00000101384 JAG1, AGS1, AHD mutation identified in 1 DFNCDPE family ?Deafness, congenital heart defects, and posterior embryotoxon 3 +601920 JAG1 Jagged 1 ENSG00000101384 JAG1, AGS1, AHD mutation identified in 1 DFNCDPE family Autosomal dominant 187500 Tetralogy of Fallot 3 +612360 NDUFAF5 NADH dehydrongenase (ubiquinone) complex I, assembly factor T ENSG00000101247 NDUFAF5, C20orf7 Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex 1 deficiency 3 +604808 FLRT3 Fibronectin-like domain-containing leucine-rich transmembrane protein-3 ENSG00000125848 FLRT3, HH21 Autosomal dominant 615271 Hypogonadotropic hypogonadism 21 with anosmia 3 +603307 BFSP1 Beaded filament structural protein-1 (filensin) ENSG00000125864 BFSP1, CP115, CTRCT33 611391 Cataract 33 3 +612406 DYT17 Dystonia-17, primary torsion DYT17 between D20S472 and D20S911 Autosomal recessive 612406 Dystonia-17, primary torsion 2 +615076 MGME1 Mitochondrial genome maintenance exonuclease 1 ENSG00000125871 MGME1, C20orf72, MTDPS11 Autosomal recessive 615084 Mitochondrial DNA depletion syndrome 11 3 +616441 OVOL2 ovo-like 2 ENSG00000125850 OVOL2, ZNF339, PPCD1 Autosomal dominant 122000 Corneal dystrophy, posterior polymorphous, 1 3 +610512 SEC23B Sec23, S. cerevisiae, homolog of, B ENSG00000101310 SEC23B, CDAN2, HEMPAS, CWS7 Autosomal dominant 616858 Cowden syndrome 7 3 +610512 SEC23B Sec23, S. cerevisiae, homolog of, B ENSG00000101310 SEC23B, CDAN2, HEMPAS, CWS7 Autosomal recessive 224100 Dyserythropoietic anemia, congenital, type II 3 +610222 RIN2 RAS and RAB interactor 2 ENSG00000132669 RIN2, MACS Autosomal recessive 613075 Macrocephaly, alopecia, cutis laxa, and scoliosis 3 +615757 KIZ Kizuna centrosomal protein ENSG00000088970 KIZ, KIZUNA, C20orf19, RP69 Autosomal recessive 615780 Retinitis pigmentosa 69 3 +612421 Alopecia, androgenetic, 3 AGA3 associated with rs1160312 612421 Alopecia, androgenetic, 3 2 +167411 PAX1 Paired box homeotic gene-1 ENSG00000125813 PAX1, OFC2 mutation identified in 1 family Autosomal recessive 615560 ?Otofaciocervical syndrome 2 3 +188040 THBD Thrombomodulin ENSG00000178726 THBD, THRM, AHUS6, THPH12 Autosomal dominant 612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6 3 +188040 THBD Thrombomodulin ENSG00000178726 THBD, THRM, AHUS6, THPH12 614486 Thrombophilia due to thrombomodulin defect 3 +604312 CST3 Cystatin C ENSG00000101439 CST3, ARMD11 proximal to 20p11.2 Autosomal dominant 105150 Cerebral amyloid angiopathy 3 +604312 CST3 Cystatin C ENSG00000101439 CST3, ARMD11 proximal to 20p11.2 611953 Macular degeneration, age-related, 11 3 +605020 VSX1 Visual system homeo box gene 1, zebrafish, homolog of ENSG00000100987 VSX1, RINX, KTCN1, CAASDS mutation identified in 1 CAASDS family 614195 ?Craniofacial anomalies and anterior segment dysgenesis syndrome 3 +605020 VSX1 Visual system homeo box gene 1, zebrafish, homolog of ENSG00000100987 VSX1, RINX, KTCN1, CAASDS mutation identified in 1 CAASDS family Autosomal dominant 148300 Keratoconus 1 3 +613599 ABHD12 Abhydrolase domain-containing protein 12 ENSG00000100997 ABHD12, PHARC Autosomal recessive 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 3 +610261 Hypertension, essential, susceptibility to, 5 HYT5 Multifactorial 145500 Hypertension, essential, susceptibility to, 5 2 +608029 CLA3 Spinocerebellar ataxia, autosomal recessive 6 SCAR6, CLA3 between D20S471 and D20S119 Autosomal recessive 608029 Spinocerebellar ataxia, autosomal recessive 6 2 +612263 Melanoma, cutaneous malignant, susceptibility to, 7 CMM7 between rs910873 and rs1885120 612263 Melanoma, cutaneous malignant, 7 2 +607976 COX4I2 Cytochrome c oxidase, subunit IV, isoform 2 ENSG00000131055 COX4I2 Autosomal recessive 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 3 +606566 MYLK2 Myosin light chain kinase 2 ENSG00000101306 MYLK2, MLCK Autosomal dominant 192600 Cardiomyopathy, hypertrophic, 1, digenic 3 +607491 POFUT1 Protein O-fucosyltransferase 1 ENSG00000101346 POFUT1, OFUCT1, KIAA0180, DDD2 Autosomal dominant 615327 Dowling-Degos disease 2 3 +612990 ASXL1 Additional sex combs-like 1 ENSG00000171456 ASXL1, KIAA0978, BOPS, MDS Autosomal dominant 605039 Bohring-Opitz syndrome 3 +612990 ASXL1 Additional sex combs-like 1 ENSG00000171456 ASXL1, KIAA0978, BOPS, MDS 614286 Myelodysplastic syndrome, somatic 3 +602900 DNMT3B DNA methyltransferase 3B ENSG00000088305 DNMT3B, ICF1 Autosomal recessive 242860 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 3 +601017 SNTA1 Syntrophin, alpha-1 ENSG00000101400 SNTA1, SNT1, TACIP1, LQT12 Autosomal dominant 612955 Long QT syndrome 12 3 +612228 Stature quantitative trait locus 14 STQTL14 associated with rs6060373 612228 Stature QTL 14 2 +610897 CHMP4B CHMP family, member 4B ENSG00000101421 CHMP4B, SNF7, CTPP3, CTRCT31 605387 Cataract 31, multiple types 3 +600201 ASIP Agouti, mouse, signaling protein ENSG00000101440 ASIP, AGTIL, SHEP9 611742 Skin/hair/eye pigmentation 9, brown/nonbrown eyes 3 +600201 ASIP Agouti, mouse, signaling protein ENSG00000101440 ASIP, AGTIL, SHEP9 611742 Skin/hair/eye pigmentation 9, dark/light hair 3 +180960 AHCY S-adenosylhomocysteine hydrolase ENSG00000101444 AHCY, SAHH ~13cM from ADA Autosomal recessive 613752 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 3 +606409 ITCH Itchy, mouse, homolog of ENSG00000078747 ITCH, AIP4, NAPP1, ADMFD Autosomal recessive 613385 Autoimmune disease, multisystem, with facial dysmorphism 3 +601002 GSS Glutathione synthetase ENSG00000100983 GSS, GSHS Autosomal recessive 266130 Glutathione synthetase deficiency 3 +601002 GSS Glutathione synthetase ENSG00000100983 GSS, GSHS Autosomal recessive 231900 Hemolytic anemia due to glutathione synthetase deficiency 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal recessive 201250 ?Acromesomelic dysplasia, Hunter-Thompson type 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal recessive, Autosomal dominant 615072 Brachydactyly, type A1, C 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal dominant 112600 Brachydactyly, type A2 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal dominant 113100 Brachydactyly, type C 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal recessive 200700 Chondrodysplasia, Grebe type 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal recessive 228900 Du Pan syndrome 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family Autosomal dominant 610017 Multiple synostoses syndrome 2 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family 612400 Osteoarthritis-5 3 +601146 GDF5 Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) ENSG00000125965 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B mutation identified in 1 AMDHT family 615298 Symphalangism, proximal, 1B 3 +602879 EPB41L1 Erythrocyte membrane protein band 4.1-like 1 ENSG00000088367 EPB41L1, MRD11 mutation identified in 1 patient 614257 ?Mental retardation, autosomal dominant 11 3 +606754 SAMHD1 SAM domain- and HD domain-containing protein 1 ENSG00000101347 SAMHD1, AGS5, DCIP, CHBL2 mutation identified in 1 CHBL2 family Autosomal recessive 612952 Aicardi-Goutieres syndrome 5 3 +606754 SAMHD1 SAM domain- and HD domain-containing protein 1 ENSG00000101347 SAMHD1, AGS5, DCIP, CHBL2 mutation identified in 1 CHBL2 family Autosomal dominant 614415 ?Chilblain lupus 2 3 +139190 GHRH Growth hormone releasing hormone (somatocrinin) ENSG00000118702 GHRH, GHRF Gigantism due to GHRF hypersecretion 1 +139190 GHRH Growth hormone releasing hormone (somatocrinin) ENSG00000118702 GHRH, GHRF ?Isolated growth hormone deficiency due to defect in GHRF 1 +190090 SRC Protooncogene SRC, Rous sarcoma ENSG00000197122 SRC, ASV, SRC1, THC6 mutation identified in 1 THC6 family 114500 Colon cancer, advanced, somatic 3 +190090 SRC Protooncogene SRC, Rous sarcoma ENSG00000197122 SRC, ASV, SRC1, THC6 mutation identified in 1 THC6 family Autosomal dominant 616937 ?Thrombocytopenia 6 3 +603694 Noninsulin-dependent diabetes mellitus 3 NIDDM3 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 2 +613938 Parasomnia, sleepwalking type PSMNSW between 55.6 and 61.4 cM Autosomal dominant, Multifactorial 613938 Parasomnia, sleepwalking type 2 +608968 MAFB v-MAF musculoaponeurotic fibrosarcoma oncogene family, protein B ENSG00000204103 MAFB, KRML, MCTO, DURS3 Autosomal dominant 617041 Duane retraction syndrome 3 3 +608968 MAFB v-MAF musculoaponeurotic fibrosarcoma oncogene family, protein B ENSG00000204103 MAFB, KRML, MCTO, DURS3 Autosomal dominant 166300 Multicentric carpotarsal osteolysis syndrome 3 +126420 TOP1 Topoisomerase (DNA) I ENSG00000198900 TOP1 pseudogenes on chr.1 and 22 DNA topoisomerase I, camptothecin-resistant 3 +608878 Gene expression, variation in, quantitative trait locus on chromosome 20 GEVQ2 608878 Gene expression, variation in, QTL 2 +603388 Graves disease, susceptibility to, 2 GRD2 603388 Graves disease, susceptibility to, 2 2 +608656 Prostate cancer, hereditary, 3 HPC3 Autosomal dominant 176807 Prostate cancer, susceptibility to, 3 2 +612566 Inflammatory bowel disease 24 IBD24 associated with rs2315008 and rs4809330 612566 Inflammatory bowel disease 24 2 +612950 Psoriasis susceptibility 12 PSORS12 associated with rs495337 612950 Psoriasis susceptibility 12 2 +610066 Systemic lupus erythematosus, susceptibility to, 8 SLEB8 610066 Systemic lupus erythematosus, susceptibility to, 8 2 +617094 IFT52 Intraflagellar transport 52, Chlamydomonas, homolog of ENSG00000101052 IFT52 Autosomal recessive 617102 Short-rib thoracic dysplasia 16 with or without polydactyly 3 +605267 JPH2 Junctophilin 2 ENSG00000149596 JPH2, JP2, CMH17 Autosomal dominant 613873 Cardiomyopathy, hypertrophic, 17 3 +600281 HNF4A Hepatocyte nuclear factor 4, alpha (transcription factor-14) ENSG00000101076 HNF4A, TCF14, MODY1, FRTS4 Autosomal dominant 125853 Diabetes mellitus, noninsulin-dependent 3 +600281 HNF4A Hepatocyte nuclear factor 4, alpha (transcription factor-14) ENSG00000101076 HNF4A, TCF14, MODY1, FRTS4 Autosomal dominant 616026 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 3 +600281 HNF4A Hepatocyte nuclear factor 4, alpha (transcription factor-14) ENSG00000101076 HNF4A, TCF14, MODY1, FRTS4 Autosomal dominant 125850 MODY, type I 3 +608958 ADA Adenosine deaminase ENSG00000196839 ADA Autosomal recessive, Somatic mosaicism 102700 Adenosine deaminase deficiency, partial 3 +608958 ADA Adenosine deaminase ENSG00000196839 ADA Autosomal recessive, Somatic mosaicism 102700 Severe combined immunodeficiency due to ADA deficiency 3 +604965 STK4 Serine/threonine protein kinase 4 ENSG00000101109 STK4, MST1, KRS2, TIIAC 614868 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 3 +610272 PIGT Phosphatidylinositol glycan, class T ENSG00000124155 PIGT, NDAP, PNH2, MCAHS3 mutation identified in 1 PNH2 family Autosomal recessive 615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3 3 +610272 PIGT Phosphatidylinositol glycan, class T ENSG00000124155 PIGT, NDAP, PNH2, MCAHS3 mutation identified in 1 PNH2 family Autosomal dominant, Somatic mutation 615399 ?Paroxysmal nocturnal hemoglobinuria 2 3 +613111 CTSA Cathepsin A (protective protein for beta-galactosidase) ENSG00000064601 CTSA, PPGB, GSL, NGBE, GLB2 Autosomal recessive 256540 Galactosialidosis 3 +172425 PLTP Phospholipid transfer protein ENSG00000100979 PLTP, HDLCQ9 High density lipoprotein cholesterol level QTL 9 3 +610827 ZNF335 Zinc finger protein 335 ENSG00000198026 ZNF335, NIF1, NIF2, MCPH10 mutation identified in 1 MCPH10 family Autosomal recessive 615095 ?Microcephaly 10, primary, autosomal recessive 3 +120361 MMP9 Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase) ENSG00000100985 MMP9, CLG4B, MANDP2 613073 Metaphyseal anadysplasia 2 3 +606726 SLC12A5 Solute carrier family 12, (potassium-chloride transporter) member 5 ENSG00000124140 SLC12A5, KCC2, KIAA1176, EIEE34, EIG14 Autosomal dominant 616685 Epilepsy, idiopathic generalized, susceptibility to, 14 3 +606726 SLC12A5 Solute carrier family 12, (potassium-chloride transporter) member 5 ENSG00000124140 SLC12A5, KCC2, KIAA1176, EIEE34, EIG14 Autosomal recessive 616645 Epileptic encephalopathy, early infantile, 34 3 +109535 CD40 CD40 antigen ENSG00000101017 CD40, TNFRSF5 Autosomal recessive 606843 Immunodeficiency with hyper-IgM, type 3 3 +606421 ELMO2 Engulfment and cell motility gene 2 ENSG00000062598 ELMO2, CED12, VMPI Autosomal recessive 606893 Vascular malformation, primary intraosseous 3 +606145 SLC2A10 Solute carrier family 2 (facilitated glucose transporter), member 10 ENSG00000197496 SLC2A10, GLUT10, ATS Autosomal recessive 208050 Arterial tortuosity syndrome 3 +605371 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2, brefeldin A-inhibited ENSG00000124198 ARFGEF2, BIG2, PVNH2 Autosomal recessive 608097 Periventricular heterotopia with microcephaly 3 +600397 KCNB1 Potassium voltage-gated channel, Shab-related subfamily, member 1 ENSG00000158445 KCNB1, EIEE26 Autosomal dominant 616056 Epileptic encephalopathy, early infantile, 26 3 +601699 PTGIS Prostaglandin 12 synthase ENSG00000124212 PTGIS, CYP8A1, PGIS, CYP8 Multifactorial 145500 Hypertension, essential 3 +176885 PTPN1 Protein tyrosine phosphatase, nonreceptor-type, 1 ENSG00000196396 PTPN1, PTP1B 20pter-q12 by REa Autosomal dominant 125853 Insulin resistance, susceptibility to 3 +611386 ADNP Activity-dependent neuroprotector homeobox ENSG00000101126 ADNP, ADNP1, KIAA0784, HVDAS, MRD28 Autosomal dominant 615873 Helsmoortel-van der Aa syndrome 3 +603503 DPM1 Dolichyl-phosphate mannosyltransferase 1, catalytic subunit ENSG00000000419 DPM1, MPDS, CDGIE Autosomal recessive 608799 Congenital disorder of glycosylation, type Ie 3 +610248 DFNB65 Deafness, autosomal recessive 65 DFNB65 max lod at D20S840 Autosomal recessive 610248 Deafness, autosomal recessive 65 2 +607343 SALL4 sal-like 4 ENSG00000101115 SALL4, HSAL4 Autosomal dominant 607323 Duane-radial ray syndrome 3 +607343 SALL4 sal-like 4 ENSG00000101115 SALL4, HSAL4 Autosomal dominant 147750 IVIC syndrome 3 +126065 CYP24A1 Cytochrome P450, family 24, subfamily A, polypeptide 1 (vitamin D 24-hydroxylase) ENSG00000019186 CYP24A1, CYP24, HCINF1 Autosomal recessive 143880 Hypercalcemia, infantile, 1 3 +155540 MC3R Melanocortin-3 receptor ENSG00000124089 MC3R, BMIQ9 607948 Mycobacterium tuberculosis, protection against 3 +155540 MC3R Melanocortin-3 receptor ENSG00000124089 MC3R, BMIQ9 602025 Obesity, severe, susceptibility to, BMIQ9 3 +603072 AURKA Aurora kinase A ENSG00000087586 AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK Autosomal dominant 114500 Colon cancer, susceptibility to 3 +612929 Mycobacterium tuberculosis, susceptibility to, 3 MTBS3 associated with rs3827103 612929 Mycobacterium tuberculosis, susceptibility to, 3 2 +614168 PCK1 Phosphoenolpyruvate carboxykinase-1 (soluble) ENSG00000124253 PCK1 Autosomal recessive 261680 ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 1 +605704 VAPB Vesicle-associated membrane protein-associated protein B ENSG00000124164 VAPB, VAPC, ALS8 Autosomal dominant 608627 Amyotrophic lateral sclerosis 8 3 +605704 VAPB Vesicle-associated membrane protein-associated protein B ENSG00000124164 VAPB, VAPC, ALS8 Autosomal dominant 182980 Spinal muscular atrophy, late-onset, Finkel type 3 +603666 STX16 Syntaxin 16 ENSG00000124222 STX16, SYN16 Autosomal dominant 603233 Pseudohypoparathyroidism, type IB 3 +610540 GNAS-AS1 GNAS antisense RNA 1 ENSG00000235590 GNASAS1, GNASAS, SANG, NESPAS Autosomal dominant 603233 Pseudohypoparathyroidism, type IB 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Isolated cases 219080 ACTH-independent macronodular adrenal hyperplasia 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C 102200 Acromegaly, somatic 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C 174800 McCune-Albright syndrome, somatic, mosaic 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Autosomal dominant 166350 Osseous heteroplasia, progressive 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Autosomal dominant 103580 Pseudohypoparathyroidism Ia 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Autosomal dominant 603233 Pseudohypoparathyroidism Ib 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Autosomal dominant 612462 Pseudohypoparathyroidism Ic 3 +139320 GNAS GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) ENSG00000087460 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C Autosomal dominant 612463 Pseudopseudohypoparathyroidism 3 +612901 TUBB1 Tubulin, beta-1 ENSG00000101162 TUBB1 Autosomal dominant 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related 3 +606153 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ENSG00000124172 ATP5E, MC5DN3 pseudogene on 4q25; mutation identified in 1 MC5DN3 patient 614053 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 3 +131242 EDN3 Endothelin-3 ENSG00000124205 EDN3, WS4B, HSCR4 Autosomal dominant 209880 Central hypoventilation syndrome, congenital 3 +131242 EDN3 Endothelin-3 ENSG00000124205 EDN3, WS4B, HSCR4 613712 Hirschsprung disease, susceptibility to, 4 3 +131242 EDN3 Endothelin-3 ENSG00000124205 EDN3, WS4B, HSCR4 Autosomal recessive, Autosomal dominant 613265 Waardenburg syndrome, type 4B 3 +613031 Glioma susceptibility 6 GLM6 associated with rs6010620 613031 Glioma susceptibility 6 2 +606731 OSBPL2 Oxysterol-binding protein-like protein 2 ENSG00000130703 OSBPL2, ORP2, KIAA0772, DNFA67 Autosomal dominant 616340 Deafness, autosomal dominant 67 3 +120270 COL9A3 Collagen IX, alpha-3 polypeptide ENSG00000092758 COL9A3, EDM3, IDD Autosomal dominant 600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy 3 +120270 COL9A3 Collagen IX, alpha-3 polypeptide ENSG00000092758 COL9A3, EDM3, IDD 603932 Intervertebral disc disease, susceptibility to 3 +612107 SLC17A9 Solute carrier family 17, member 9 ENSG00000101194 SLC17A9, C20orf59, POROK8 Autosomal dominant 616063 Porokeratosis 8, disseminated superficial actinic type 3 +118504 CHRNA4 Cholinergic receptor, nicotinic, alpha polypeptide-4 ENSG00000101204 CHRNA4, ENFL1 Autosomal dominant 600513 Epilepsy, nocturnal frontal lobe, 1 3 +118504 CHRNA4 Cholinergic receptor, nicotinic, alpha polypeptide-4 ENSG00000101204 CHRNA4, ENFL1 188890 Nicotine addiction, susceptibility to 3 +602235 KCNQ2 Potassium voltage-gated channel, KQT-like subfamily, member 2 ENSG00000281151 KCNQ2, EBN1, EIEE7, BFNS1 Autosomal dominant 613720 Epileptic encephalopathy, early infantile, 7 3 +602235 KCNQ2 Potassium voltage-gated channel, KQT-like subfamily, member 2 ENSG00000281151 KCNQ2, EBN1, EIEE7, BFNS1 Autosomal dominant 121200 Myokymia 3 +602235 KCNQ2 Potassium voltage-gated channel, KQT-like subfamily, member 2 ENSG00000281151 KCNQ2, EBN1, EIEE7, BFNS1 Autosomal dominant 121200 Seizures, benign neonatal, 1 3 +602959 EEF1A2 Eukaryotic translation elongation factor-1, alpha-2 ENSG00000101210 EEF1A2, EIEE33, MRD38 Autosomal dominant 616409 Epileptic encephalopathy, early infantile, 33 3 +602959 EEF1A2 Eukaryotic translation elongation factor-1, alpha-2 ENSG00000101210 EEF1A2, EIEE33, MRD38 Autosomal dominant 616393 Mental retardation, autosomal dominant 38 3 +608833 RTEL1 Regulator of telomere elongation helicase 1 ENSG00000258366 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 Autosomal recessive, Autosomal dominant 615190 Dyskeratosis congenita, autosomal dominant 4 3 +608833 RTEL1 Regulator of telomere elongation helicase 1 ENSG00000258366 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 Autosomal recessive, Autosomal dominant 615190 Dyskeratosis congenita, autosomal recessive 5 3 +608833 RTEL1 Regulator of telomere elongation helicase 1 ENSG00000258366 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 Autosomal dominant 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 3 +611203 DNAJC5 DNAJ/HSP40 homolog, subfamily C, member 5 ENSG00000101152 DNAJC5, DNAJC5A, CSP, CLN4B Autosomal dominant 162350 Ceroid lipofuscinosis, neuronal, 4, Parry type 3 +613979 PRPF6 Precursor mRNA-processing factor 6, S. cerevisiae, homolog of ENSG00000101161 PRPF6, PRP6, ANT1, TOM, C20orf14 Autosomal dominant 613983 Retinitis pigmentosa 60 3 +601618 SOX18 SOX18, mouse, homolog of ENSG00000203883 SOX18, HLTS, HLTRS Autosomal recessive 607823 Hypotrichosis-lymphedema-telangiectasia syndrome 3 +601618 SOX18 SOX18, mouse, homolog of ENSG00000203883 SOX18, HLTS, HLTRS Autosomal dominant 137940 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 3 +610838 Autism, susceptibility to, 12 AUTS12 max lod at D21S1437 610838 Autism susceptibility 12 2 +609039 Narcolepsy 3 NRCLP3 max lod at D21S1245 Autosomal dominant 609039 Narcolepsy 3 2 +159595 Myeloproliferative syndrome, transient (transient abnormal myelopoiesis) TAM, MST 159595 Leukemia, transient, of Down syndrome 2 +609252 LIPI Lipase I ENSG00000188992 LIPI, LPDL, PRED5 Autosomal dominant 145750 Hypertriglyceridemia, susceptibility to 3 +602097 USH1E Usher syndrome-1E, autosomal recessive, severe USH1E Autosomal recessive 602097 Usher syndrome, type 1E 2 +606635 TMPRSS15 Protease, serine, 7 (enterokinase) ENSG00000154646 PRSS7, ENTK Autosomal recessive 226200 Enterokinase deficiency 3 +104760 APP Amyloid beta (A4) precursor protein ENSG00000142192 APP, AAA, CVAP, AD1 proximal to SOD; very distal q21 or boundary with q22 Autosomal dominant 104300 Alzheimer disease 1, familial 3 +104760 APP Amyloid beta (A4) precursor protein ENSG00000142192 APP, AAA, CVAP, AD1 proximal to SOD; very distal q21 or boundary with q22 Autosomal dominant 605714 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 3 +611515 FEB7 Febrile seizures, familial, 7 FEB7 max lod at D21S1910 611515 Febrile seizures, familial, 7 2 +609428 Tukel syndrome TUKLS max lod at D21S1259 Autosomal recessive 609428 Tukel syndrome 2 +147450 SOD1 Superoxide dismutase-1, soluble ENSG00000142168 SOD1, ALS1 mid q22.1 Autosomal recessive, Autosomal dominant 105400 Amyotrophic lateral sclerosis 1 3 +609196 MRAP Melanocortin 2 receptor accessory protein ENSG00000170262 MRAP, FALP, C21orf61, GCCD2, FGD2 Autosomal recessive 607398 Glucocorticoid deficiency 2 3 +615494 C21orf59 Chromosome 21 open reading frame 59 ENSG00000159079 C21ORF59, CILD26 Autosomal recessive 615500 Ciliary dyskinesia, primary, 26 3 +604297 SYNJ1 Synaptojanin 1 ENSG00000159082 SYNJ1, PARK20 Autosomal recessive 615530 Parkinson disease 20, early-onset 3 +602376 IFNAR2 Interferon, alpha, beta, and omega, receptor 2 ENSG00000159110 IFNAR2, IMD45 mutation identified in 1 IMD45 family 610424 Hepatitis B virus, susceptibility to 3 +602376 IFNAR2 Interferon, alpha, beta, and omega, receptor 2 ENSG00000159110 IFNAR2, IMD45 mutation identified in 1 IMD45 family Autosomal recessive 616669 ?Immunodeficiency 45 3 +123889 IL10RB Cytokine receptor, family II, member 4 ENSG00000243646 CRFB4, IBD25 35kb distal to IFNAR; D21S58 610424 Hepatitis B virus, susceptibility to 3 +123889 IL10RB Cytokine receptor, family II, member 4 ENSG00000243646 CRFB4, IBD25 35kb distal to IFNAR; D21S58 Autosomal recessive 612567 Inflammatory bowel disease 25, early onset, autosomal recessive 3 +147569 IFNGR2 Interferon gamma receptor-2 (interferon gamma transducer 1) ENSG00000262795 IFNGR2, IFNGT1, IFGR2, IMD28 Autosomal recessive 614889 Immunodeficiency 28, mycobacteriosis 3 +603796 KCNE2 Potassium voltage-gated channel, Isk-related family, member 2 ENSG00000159197 KCNE2, MIRP1, LQT6, ATFB4 611493 Atrial fibrillation, familial, 4 3 +603796 KCNE2 Potassium voltage-gated channel, Isk-related family, member 2 ENSG00000159197 KCNE2, MIRP1, LQT6, ATFB4 Autosomal dominant 613693 Long QT syndrome 6 3 +176261 KCNE1 Potassium voltage-gated channel, Isk-related subfamily, member 1 ENSG00000278961 KCNE1, JLNS, LQT5, JLNS2 Autosomal recessive 612347 Jervell and Lange-Nielsen syndrome 2 3 +176261 KCNE1 Potassium voltage-gated channel, Isk-related subfamily, member 1 ENSG00000278961 KCNE1, JLNS, LQT5, JLNS2 Autosomal dominant 613695 Long QT syndrome 5 3 +151385 RUNX1 Runt-related transcription factor 1 (aml1 oncogene) ENSG00000159216 RUNX1, CBFA2, AML1 Autosomal dominant 601626 Leukemia, acute myeloid 3 +151385 RUNX1 Runt-related transcription factor 1 (aml1 oncogene) ENSG00000159216 RUNX1, CBFA2, AML1 Autosomal dominant 601399 Platelet disorder, familial, with associated myeloid malignancy 3 +609876 Bone mineral density QTL 6 BMND6 max lod at D21S1446 609876 Bone mineral density QTL 6 2 +609633 Major affective disorder 3 MAFD3, BPEO max lod at D21S1252 609633 Major affective disorder 3, early onset 2 +605608 CLDN14 Claudin 14 ENSG00000159261 CLDN14, DFNB29 Autosomal recessive 614035 Deafness, autosomal recessive 29 3 +609018 HLCS Holocarboxylase synthetase ENSG00000159267 HLCS, HCS Autosomal recessive 253270 Holocarboxylase synthetase deficiency 3 +600855 DYRK1A Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A (\\'minibrain\\', Drosophila, homolog of) ENSG00000157540 DYRK1A, MNBH, MNB, MRD7 ?triplicate state responsible for mental defect in Down syndrome Autosomal dominant 614104 Mental retardation, autosomal dominant 7 3 +600877 KCNJ6 Potassium inwardly-rectifying channel, subfamily J, member 6 ENSG00000157542 KCNJ6, GIRK2, KCNJ7, KPLBS Autosomal dominant 614098 Keppen-Lubinsky syndrome 3 +190685 Down syndrome chromosome region DCR, DSCR many genes are involved in this phenotype Isolated cases 190685 Down syndrome 4 +236100 HPE1 Holoprosencephaly-1, alobar HPE1 Autosomal dominant, Isolated cases 236100 Holoprosencephaly 1 2 +605706 RIPK4 Receptor-interacting serine-threonine kinase 4 ENSG00000183421 RIPK4, NKRD3, DIK, PPS2 Autosomal recessive 263650 Popliteal pterygium syndrome, Bartsocas-Papas type 3 +605511 TMPRSS3 Transmembrane protease, serine 3 ENSG00000160183 TMPRSS3, ECHOS1, DFNB8, DFNB10 Autosomal recessive 601072 Deafness, autosomal recessive 8/10 3 +609314 RSPH1 Radial spoke head 1, Chlamydomonas, homolog of ENSG00000160188 RSPH1, TSGA2, TSA2, CILD24 Autosomal recessive 615481 Ciliary dyskinesia, primary, 24 3 +613381 CBS Cystathionine beta-synthase ENSG00000160200 CBS subtelomeric Autosomal recessive 236200 Homocystinuria, B6-responsive and nonresponsive types 3 +613381 CBS Cystathionine beta-synthase ENSG00000160200 CBS subtelomeric Autosomal recessive 236200 Thrombosis, hyperhomocysteinemic 3 +123580 CRYAA Crystallin, alpha A ENSG00000160202 CRYAA, CRYA1, CTRCT9 Autosomal dominant 604219 Cataract 9, multiple types 3 +605705 SIK1 Salt-inducible kinase 1 ENSG00000142178 SIK1, SNF1LK, MSK, EIEE30 Autosomal dominant 616341 Epileptic encephalopathy, early infantile, 30 3 +601145 CSTB Cystatin B (stefin B) ENSG00000160213 CSTB, STFB, EPM1, PME, EPM1A, ULD Autosomal recessive 254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 3 +607358 AIRE Autoimmune regulator ENSG00000160224 AIRE, APECED, APS1 Autosomal recessive, Autosomal dominant 240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 3 +171860 PFKL Phosphofructokinase, liver type ENSG00000141959 PFKL Hemolytic anemia due to phosphofructokinase deficiency 1 +612920 TSPEAR Thrombospondin-type laminin G domain and EAR repeats ENSG00000175894 TSPEAR, C21orf29, DFNB98 Autosomal recessive 614861 Deafness, autosomal recessive 98 3 +600065 ITGB2 Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide) ENSG00000160255 ITGB2, CD18, LCAMB, LAD common subunit for CR3, LFA1, and P150,95 Autosomal recessive 116920 Leukocyte adhesion deficiency 3 +120328 COL18A1 Collagen XVIII, alpha-1 polypeptide ENSG00000182871 COL18A1, KNO1 Autosomal recessive 267750 Knobloch syndrome, type 1 3 +120220 COL6A1 Collagen VI, alpha-1 polypeptide ENSG00000142156 COL6A1, BTHLM1, UCHMD1 Autosomal recessive, Autosomal dominant 158810 Bethlem myopathy 1 3 +120220 COL6A1 Collagen VI, alpha-1 polypeptide ENSG00000142156 COL6A1, BTHLM1, UCHMD1 Autosomal recessive, Autosomal dominant 254090 Ullrich congenital muscular dystrophy 1 3 +120240 COL6A2 Collagen VI, alpha-2 polypeptide ENSG00000142173 COL6A2, BTHLM1, UCMD1 mutation identified in 1 MYSCL family Autosomal recessive, Autosomal dominant 158810 Bethlem myopathy 1 3 +120240 COL6A2 Collagen VI, alpha-2 polypeptide ENSG00000142173 COL6A2, BTHLM1, UCMD1 mutation identified in 1 MYSCL family Autosomal recessive 255600 ?Myosclerosis, congenital 3 +120240 COL6A2 Collagen VI, alpha-2 polypeptide ENSG00000142173 COL6A2, BTHLM1, UCMD1 mutation identified in 1 MYSCL family Autosomal recessive, Autosomal dominant 254090 Ullrich congenital muscular dystrophy 1 3 +606806 FTCD Formiminotransferase cyclodeminase ENSG00000160282 FTCD Autosomal recessive 229100 Glutamate formiminotransferase deficiency 3 +600909 LSS Lanosterol synthase ENSG00000281289 LSS, OSC, CTRCT44 Autosomal recessive 616509 Cataract 44 3 +605925 PCNT Pericentrin ENSG00000160299 PCNT, PCNT2, KEN, SCKL4, MOPD2 Autosomal recessive 210720 Microcephalic osteodysplastic primordial dwarfism, type II 3 +125520 Asymmetric crying facies (Cayler cardiofacial syndrome) ACF Autosomal dominant 125520 Cayler cardiofacial syndrome 2 +115470 Cat eye syndrome CECR, CES partial tetrasomy of 22q11 Autosomal dominant 115470 Cat eye syndrome 4 +231950 Gamma-glutamyltransferase-1 GGT1, GTG minor peak, q13.1 Glutathioninuria 1 +605461 IL17RA Interleukin 17 receptor A ENSG00000177663 IL17RA, IL17R, CANDF5 mutation identified in 1 CANDF5 family 613953 ?Candidiasis, familial, 5, autosomal recessive 3 +607575 CECR1 Cat eye syndrome chromosome region, candidate 1 ENSG00000093072 CECR1, PAN, SNEDS mutation identified in 1 SNEDS family Autosomal recessive 615688 Polyarteritis nodosa, childhood-onset 3 +607575 CECR1 Cat eye syndrome chromosome region, candidate 1 ENSG00000093072 CECR1, PAN, SNEDS mutation identified in 1 SNEDS family Autosomal recessive 182410 ?Sneddon syndrome 3 +611867 Chromosome 22q11.2 deletion syndrome, distal DEL22q11.2, C22DELq11.2 611867 Chromosome 22q11.2 deletion syndrome, distal 4 +609029 Emanuel syndrome (supernumerary der(22)t(11;22) syndrome) DER22t11-22 Inherited chromosomal imbalance 609029 Emanuel syndrome 4 +613700 Supernumerary der(22)t(8;22) syndrome DER22t8-22 613700 Supernumerary der(22)t(8-22) syndrome 4 +608264 DFNB40 Deafness, autosomal recessive 40 DFNB40 Autosomal recessive 608264 Deafness, autosomal recessive 40 2 +608363 Chromosome 22q11.2 microduplication syndrome DUP22q11.2 contiguous gene microduplication syndrome Autosomal dominant, Isolated cases 608363 Chromosome 22q11.2 microduplication syndrome 4 +608666 PEX26 Peroxisome biogenesis factor 26 ENSG00000215193 PEX26, PBD7A, PBD7B 614872 Peroxisome biogenesis disorder 7A (Zellweger) 3 +608666 PEX26 Peroxisome biogenesis factor 26 ENSG00000215193 PEX26, PBD7A, PBD7B 614873 Peroxisome biogenesis disorder 7B 3 +605742 TUBA8 Tubulin, alpha 8 ENSG00000183785 TUBA8, TUBAL2 Autosomal recessive 613180 Polymicrogyria with optic nerve hypoplasia 3 +606810 PRODH Proline dehydrogenase (proline oxidase) ENSG00000100033 PRODH, PRODH2, SCZD4 Autosomal recessive 239500 Hyperprolinemia, type I 3 +606810 PRODH Proline dehydrogenase (proline oxidase) ENSG00000100033 PRODH, PRODH2, SCZD4 Autosomal dominant 600850 Schizophrenia, susceptibility to, 4 3 +190315 SLC25A1 Solute carrier family 25 (mitochondrial citrate transporter), member 1 ENSG00000100075 SLC25A1, SLC20A3, CTP, D2L2AD Autosomal recessive 615182 Combined D-2- and L-2-hydroxyglutaric aciduria 3 +603465 CDC45 Cell division cycle 45, S. Cerevisiae, homolog-like ENSG00000093009 CDC45L, CDC45L2, MGORS7 Autosomal recessive 617063 Meier-Gorlin syndrome 7 3 +138720 GP1BB Glycoprotein Ib, platelet, beta polypeptide ENSG00000203618 GP1BB, BS, BDPLT1 Autosomal recessive 231200 Bernard-Soulier syndrome, type B 3 +138720 GP1BB Glycoprotein Ib, platelet, beta polypeptide ENSG00000203618 GP1BB, BS, BDPLT1 Autosomal recessive 231200 Giant platelet disorder, isolated 3 +602054 TBX1 T-box 1 ENSG00000184058 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR 217095 Conotruncal anomaly face syndrome 3 +602054 TBX1 T-box 1 ENSG00000184058 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR Autosomal dominant 188400 DiGeorge syndrome 3 +602054 TBX1 T-box 1 ENSG00000184058 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR Autosomal dominant 187500 Tetralogy of Fallot 3 +602054 TBX1 T-box 1 ENSG00000184058 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR Autosomal dominant 192430 Velocardiofacial syndrome 3 +116790 COMT Catechol-O-methyltransferase ENSG00000093010 COMT ?Autosomal dominant 167870 Panic disorder, susceptibility to 3 +116790 COMT Catechol-O-methyltransferase ENSG00000093010 COMT Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +616830 TANGO2 Transport and golgi organization 2, Drosophila, homolog of ENSG00000183597 TANGO2, C22orf25, MECRCN Autosomal recessive 616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 3 +605566 RTN4R NOGO receptor (reticulon 4 receptor) ENSG00000040608 RTN4R, NOGOR Autosomal dominant 181500 Schizophrenia, susceptibility to 3 +613619 SCARF2 Scavenger receptor class F, member 2 ENSG00000244486 SCARF2, SREC2, VDEGS Autosomal recessive 600920 Van den Ende-Gupta syndrome 3 +600286 PI4KA Phosphatidylinositol 4-kinase, catalytic, alpha ENSG00000241973 PI4KA, PIK4CA, PMGYCHA Autosomal recessive 616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 3 +142360 SERPIND1 Heparin cofactor II ENSG00000099937 HCF2, HC2, SERPIND1, THPH10 proximal to BCR Autosomal dominant 612356 Thrombophilia due to heparin cofactor II deficiency 3 +604202 SNAP29 Synaptosomal-associated protein, 29kD ENSG00000099940 SNAP29, CEDNIK Autosomal recessive 609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 3 +600574 LZTR1 Leucine-zipper-like regulator-1 ENSG00000099949 LZTR1, SWNTS2, NS10 Autosomal dominant 616564 Noonan syndrome 10 3 +600574 LZTR1 Leucine-zipper-like regulator-1 ENSG00000099949 LZTR1, SWNTS2, NS10 Autosomal dominant 615670 Schwannomatosis-2, susceptibility to 3 +137181 GGT2 Gamma-glutamyltransferase-2 ENSG00000100031 GGT2 137181 Gamma-glutamyltransferase, familial high serum 2 +151410 BCR Breakpoint cluster region ENSG00000186716 BCR, CML, PHL, ALL Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML 613065 Leukemia, acute lymphocytic, somatic 3 +151410 BCR Breakpoint cluster region ENSG00000186716 BCR, CML, PHL, ALL Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML 608232 Leukemia, chronic myeloid, somatic 3 +146770 IGLL1 Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega peptide) ENSG00000128322 IGLL1, IGO, IGL5, VPREB2, AGM2 between BCR2 and BCR4; distal to IGLC Autosomal recessive 613500 Agammaglobulinemia 2 3 +615903 CHCHD10 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 ENSG00000273607 CHCHD10, FTDALS2, SMAJ, IMMD mutation identified in 1 IMMD family Autosomal dominant 615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 3 +615903 CHCHD10 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 ENSG00000273607 CHCHD10, FTDALS2, SMAJ, IMMD mutation identified in 1 IMMD family Autosomal dominant 616209 ?Myopathy, isolated mitochondrial, autosomal dominant 3 +615903 CHCHD10 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 ENSG00000273607 CHCHD10, FTDALS2, SMAJ, IMMD mutation identified in 1 IMMD family Autosomal dominant 615048 Spinal muscular atrophy, Jokela type 3 +601607 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ENSG00000099956 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 Autosomal dominant 614608 Coffin-Siris syndrome 3 3 +601607 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ENSG00000099956 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 Autosomal dominant 609322 Rhabdoid predisposition syndrome 1 3 +601607 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ENSG00000099956 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 609322 Rhabdoid tumors, somatic 3 +601607 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ENSG00000099956 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 Autosomal dominant 162091 Schwannomatosis-1, susceptibility to 3 +153620 MIF Macrophage migration inhibitory factor ENSG00000276701 MIF previously assigned to chr.19 604302 Rheumatoid arthritis, systemic juvenile, susceptibility to 3 +614140 SPECC1L Sperm antigen with calponin homology and coiled-coil domains 1-like ENSG00000100014 SPECC1L, KIAA0376, OBLFC1, GBBB2 mutation identified in 1 OBLFC1 patient Isolated cases 600251 ?Facial clefting, oblique, 1 3 +614140 SPECC1L Sperm antigen with calponin homology and coiled-coil domains 1-like ENSG00000100014 SPECC1L, KIAA0376, OBLFC1, GBBB2 mutation identified in 1 OBLFC1 patient Autosomal dominant 145410 Opitz GBBB syndrome, type II 3 +606673 UPB1 Beta-ureidopropionase ENSG00000100024 UPB1, BUP1 Autosomal recessive 613161 Beta-ureidopropionase deficiency 3 +123630 CRYBB3 Crystallin, beta-B3 ENSG00000100053 CRYBB3, CRYB3, CATCN2, CTRCT22 Autosomal recessive, Autosomal dominant 609741 Cataract 22, autosomal recessive 3 +123620 CRYBB2 Crystallin, beta-B2 ENSG00000244752 CRYBB2, CRYB2, CTRCT3, CCA2 2nd CRYB2 gene in same region 601547 Cataract 3, multiple types 3 +613106 Vertigo, benign recurrent, 2 BRV2 613106 Vertigo, benign recurrent, 2 2 +603116 Craniosynostosis, anal anomalies, and porokeratosis syndrome CDAGS Autosomal recessive 603116 CDAGS syndrome 2 +613284 Hematocrit/hemoglobin quantitative trait locus 3 HCHGQ3 associated with rs855791 613284 Hematocrit/hemoglobin quantitative trait locus 3 2 +606960 Insulinoma tumor suppressor gene locus ITS Insulinoma 1 +608207 Kala-azar (visceral leishmaniasis), susceptibility to, 1 KAZA1 608207 Kala-azar, susceptibility to, 1 2 +610708 OPA5 Optic atrophy 5 OPA5 between D22S1148 and D22S283 Autosomal dominant 610708 Optic atrophy 5 2 +611004 Smoking as a quantitative trait locus 2 SQTL2 max lod at D22S315 611004 Smoking as a quantitative trait locus 2 2 +607295 MYO18B Myosin XVIIIB ENSG00000133454 MYO18B, KFS4 Autosomal recessive 616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 3 +606682 HPS4 HPS gene 4 ENSG00000100099 HPS4 614073 Hermansky-Pudlak syndrome 4 3 +600929 CRYBB1 Crystallin, beta B1 ENSG00000100122 CRYBB1, CATCN3, CTRCT17 611544 Cataract 17, multiple types 3 +123631 CRYBA4 Crystallin, beta polypeptide A4 ENSG00000196431 CRYBA4, CTRCT23 610425 Cataract 23 3 +611082 MIAT MIAT gene ENSG00000225783 MIAT, C22orf35 608446 Myocardial infarction, susceptibility to 3 +156100 MN1 Meningioma chromosome region ENSG00000169184 MN1, MGCR fused with TEL in AML Autosomal dominant 607174 Meningioma 3 +604373 CHEK2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) ENSG00000183765 CHEK2, RAD53, CHK2, CDS1, LFS2 Breast and colorectal cancer, susceptibility to 3 +604373 CHEK2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) ENSG00000183765 CHEK2, RAD53, CHK2, CDS1, LFS2 Autosomal dominant 114480 Breast cancer, susceptibility to 3 +604373 CHEK2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) ENSG00000183765 CHEK2, RAD53, CHK2, CDS1, LFS2 609265 Li-Fraumeni syndrome 3 +604373 CHEK2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) ENSG00000183765 CHEK2, RAD53, CHK2, CDS1, LFS2 259500 Osteosarcoma, somatic 3 +604373 CHEK2 Checkpoint kinase 2, S. pombe, homolog of (RAD53, S. cerevisiae, homolog of) ENSG00000183765 CHEK2, RAD53, CHK2, CDS1, LFS2 Autosomal dominant 176807 Prostate cancer, familial, susceptibility to 3 +194355 XBP1 X-box-binding protein-1 ENSG00000100219 XBP1, XBP2 pseudogene on chr.5 612371 Major affective disorder-7, susceptibility to 3 +133450 EWSR1 Ewing sarcoma breakpoint region-1 ENSG00000182944 EWSR1, EWS t(11;22)(q24;q12); t(21;22)(q22;q12) 612219 Ewing sarcoma 3 +133450 EWSR1 Ewing sarcoma breakpoint region-1 ENSG00000182944 EWSR1, EWS t(11;22)(q24;q12); t(21;22)(q22;q12) 612219 Neuroepithelioma 3 +162230 NEFH Neurofilament, heavy polypeptide ENSG00000100285 NEFH, CMT2CC mutation identified in 1 family with ALS susceptibility Autosomal recessive, Autosomal dominant 105400 ?{Amyotrophic lateral sclerosis, susceptibility to 3 +162230 NEFH Neurofilament, heavy polypeptide ENSG00000100285 NEFH, CMT2CC mutation identified in 1 family with ALS susceptibility Autosomal dominant 616924 Charcot-Marie-Tooth disease, axonal, type 2CC 3 +607379 NF2 Merlin ENSG00000186575 NF2 loss of heterozygosity 607174 Meningioma, NF2-related, somatic 3 +607379 NF2 Merlin ENSG00000186575 NF2 loss of heterozygosity Autosomal dominant 101000 Neurofibromatosis, type 2 3 +607379 NF2 Merlin ENSG00000186575 NF2 loss of heterozygosity Autosomal dominant 162091 Schwannomatosis 3 +613441 TCN2 Transcobalamin II ENSG00000185339 TCN2, TC2 linked to P1 Autosomal recessive 275350 Transcobalamin II deficiency 3 +616661 MORC2 MORC family CW-type zinc finger protein 2 ENSG00000133422 MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z Autosomal dominant 616688 Charcot-Marie-Tooth disease, axonal, type 2Z 3 +614191 DEPDC5 DEP domain-containing protein 5 ENSG00000100150 DEPDC5, KIAA0645, FFEVF1 Autosomal dominant 604364 Epilepsy, familial focal, with variable foci 1 3 +609558 Prostate cancer, hereditary, 6 HPC6 between D22S1265 and D22S277 Autosomal dominant 176807 Prostate cancer, susceptibility to 2 +613689 Mammary-digital-nail syndrome MDNS max lod at D22S277, D22S1142, D22S683, D22S283 Autosomal dominant 613689 Mammary-digital-nail syndrome 2 +182380 SLC5A1 Solute carrier family 5 (sodium/glucose transporter), member 1 ENSG00000100170 SLC5A1, SGLT1 Autosomal recessive 606824 Glucose/galactose malabsorption 3 +605648 FBXO7 F-box only protein 7 ENSG00000100225 FBXO7, FBX7, FBX, PKPS, PARK15 Autosomal recessive 260300 Parkinson disease 15, autosomal recessive 3 +188826 TIMP3 Tissue inhibitor of metalloproteinase-3 ENSG00000100234 TIMP3, SFD Autosomal dominant 136900 Sorsby fundus dystrophy 3 +603590 LARGE1 Acetylglucosaminyltransferase-like protein ENSG00000133424 LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 Autosomal recessive 613154 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 3 +603590 LARGE1 Acetylglucosaminyltransferase-like protein ENSG00000133424 LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 Autosomal recessive 608840 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 3 +141250 HMOX1 Heme oxygenase, decycling, 1 ENSG00000100292 HMOX1, HMOX1D 614034 Heme oxygenase-1 deficiency 3 +141250 HMOX1 Heme oxygenase, decycling, 1 ENSG00000100292 HMOX1, HMOX1D 606963 Pulmonary disease, chronic obstructive, susceptibility to 3 +607254 APOL4 Apolipoprotein L4 ENSG00000100336 APOL4 Autosomal dominant 181500 Schizophrenia 1 +607252 APOL2 Apolipoprotein L2 ENSG00000128335 APOL2 Autosomal dominant 181500 Schizophrenia 1 +603743 APOL1 Apolipoprotein L1 ENSG00000100342 APOL1, FSGS4 612551 End-stage renal disease, nondiabetic, susceptibility to 3 +603743 APOL1 Apolipoprotein L1 ENSG00000100342 APOL1, FSGS4 612551 Glomerulosclerosis, focal segmental, 4, susceptibility to 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 603622 Deafness, autosomal dominant 17 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 153650 Epstein syndrome 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 153640 Fechtner syndrome 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 600208 Macrothrombocytopenia and progressive sensorineural deafness 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 155100 May-Hegglin anomaly 3 +160775 MYH9 Myosin, heavy polypeptide-9, nonmuscle ENSG00000100345 MYH9, MHA, FTNS, DFNA17, BDPLT6 Autosomal dominant 605249 Sebastian syndrome 3 +609063 TXN2 Thioredoxin 2 ENSG00000100348 TXN2, TRX2, MTRX, COXPD29 mutation identified in 1 COXPD29 patient Autosomal recessive 616811 ?Combined oxidative phosphorylation deficiency 29 3 +602911 CACNG2 Calcium channel, voltage-dependent, gamma-2 subunit (stargazin) ENSG00000166862 CACNG2, MRD10 614256 Mental retardation, autosomal dominant 10 3 +615870 IFT27 Intraflagellar transport 27, Chlamydomonas, homolog of ENSG00000100360 IFT27, RABL4, BBS19 mutation identified in 1 BBS19 family Autosomal recessive 615996 ?Bardet-Biedl syndrome 19 3 +601488 NCF4 Neutrophil cytosolic factor-4 ENSG00000100365 NCF4, P40PHOX, CGD3 mutation identified in 1 CGD3 patient Autosomal recessive 613960 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 3 +138981 CSF2RB Colony-stimulating factor-2 receptor, beta, low-affinity ENSG00000100368 CSF2RB, SMDP5 Autosomal recessive 614370 Surfactant metabolism dysfunction, pulmonary, 5 3 +616386 KCTD17 Potassium channel tetramerization domain-containing protein 17 ENSG00000100379 KCTD17 Autosomal dominant 616398 Dystonia 26, myoclonic 3 +609862 TMPRSS6 Transmembrane protease, serine 6 (matriptase 2) ENSG00000187045 TMPRSS6, IRIDA Autosomal recessive 206200 Iron-refractory iron deficiency anemia 3 +615538 Chromosome 22q13 duplication syndrome DUP22q13, C22DUPq13 Isolated cases 615538 Chromosome 22q13 duplication syndrome 4 +610873 Menarche, age at, QTL 1 MENAQ1 max lod at UT7136 610873 Menarche, age at, QTL 2 +613282 Fatty liver disease, nonalcoholic, susceptibility to, 1 NAFLD1 associated with rs738409 Multifactorial 613282 Fatty liver disease, nonalcoholic, susceptibility to, 1 2 +612417 Narcolepsy 4 NRCLP4 associated with rs5770917 612417 Narcolepsy 4 2 +602049 RAC2 Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2) ENSG00000128340 RAC2 608203 Neutrophil immunodeficiency syndrome 3 +150571 LGALS2 Lectin, galactoside-binding, soluble, 2 ENSG00000100079 LGALS2 608446 Myocardial infarction, susceptibility to 3 +609761 TRIOBP Trio- and F-actin-binding protein ENSG00000100106 TRIOBP, KIAA1662 Autosomal recessive 609823 Deafness, autosomal recessive 28 3 +602229 SOX10 SRY (sex-determining region Y)-box-10 ENSG00000100146 SOX10, WS4, WS4C, PCWH megacolon and spotting in mice Autosomal dominant 609136 PCWH syndrome 3 +602229 SOX10 SRY (sex-determining region Y)-box-10 ENSG00000100146 SOX10, WS4, WS4C, PCWH megacolon and spotting in mice Autosomal dominant 611584 Waardenburg syndrome, type 2E, with or without neurologic involvement 3 +602229 SOX10 SRY (sex-determining region Y)-box-10 ENSG00000100146 SOX10, WS4, WS4C, PCWH megacolon and spotting in mice Autosomal dominant 613266 Waardenburg syndrome, type 4C 3 +603604 PLA2G6 Phospholipase A2, group VI ENSG00000184381 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 Autosomal recessive 256600 Infantile neuroaxonal dystrophy 1 3 +603604 PLA2G6 Phospholipase A2, group VI ENSG00000184381 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 Autosomal recessive 610217 Neurodegeneration with brain iron accumulation 2B 3 +603604 PLA2G6 Phospholipase A2, group VI ENSG00000184381 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 Autosomal recessive 612953 Parkinson disease 14, autosomal recessive 3 +610565 DNAL4 Dynein, axonemal, light chain 4 ENSG00000100246 DNAL4, MRMV3 mutation identified in 1 MRMV3 family Autosomal recessive 616059 ?Mirror movements 3 3 +190040 PDGFB Platelet-derived growth factor, beta polypeptide (oncogene SIS) ENSG00000100311 PDGFB, SIS, IBGC5 fused with COL1A1 in DFSP Autosomal dominant 615483 Basal ganglia calcification, idiopathic, 5 3 +190040 PDGFB Platelet-derived growth factor, beta polypeptide (oncogene SIS) ENSG00000100311 PDGFB, SIS, IBGC5 fused with COL1A1 in DFSP 607907 Dermatofibrosarcoma protuberans 3 +190040 PDGFB Platelet-derived growth factor, beta polypeptide (oncogene SIS) ENSG00000100311 PDGFB, SIS, IBGC5 fused with COL1A1 in DFSP Autosomal dominant 607174 Meningioma, SIS-related 3 +608222 ADSL Adenylosuccinate lyase ENSG00000239900 ADSL ade(-)I; bifunctional Autosomal recessive 103050 Adenylosuccinase deficiency 3 +606078 MKL1 Megakaryoblastic leukemia 1 gene ENSG00000196588 MKL1, AMKL, MAL fusion with RBM15 Megakaryoblastic leukemia, acute 3 +613553 XPNPEP3 X-prolyl aminopeptidase 3 ENSG00000196236 XPNPEP3, APP3, NPHPL1 Autosomal recessive 613159 Nephronophthisis-like nephropathy 1 3 +602700 EP300 E1A-binding protein, 300kD ENSG00000100393 EP300, RSTS2 114500 Colorectal cancer, somatic 3 +602700 EP300 E1A-binding protein, 300kD ENSG00000100393 EP300, RSTS2 Autosomal dominant, Isolated cases 613684 Rubinstein-Taybi syndrome 2 3 +100850 ACO2 Aconitase, mitochondrial ENSG00000100412 ACO2, ICRD, OPA9 distal to Ph1 break; mutation identified in 1 OPA9 family Autosomal recessive 614559 Infantile cerebellar-retinal degeneration 3 +100850 ACO2 Aconitase, mitochondrial ENSG00000100412 ACO2, ICRD, OPA9 distal to Ph1 break; mutation identified in 1 OPA9 family Autosomal recessive 616289 ?Optic atrophy 9 3 +606269 TNFRSF13C Tumor necrosis factor receptor superfamily, member 13C ENSG00000159958 TNFRSF13C, BAFFR, CVID4 Autosomal recessive 613494 Immunodeficiency, common variable, 4 3 +104170 NAGA Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) ENSG00000198951 NAGA proximal to Ph1 break Autosomal recessive 609242 Kanzaki disease 3 +104170 NAGA Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) ENSG00000198951 NAGA proximal to Ph1 break Autosomal recessive 609241 Schindler disease, type I 3 +104170 NAGA Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) ENSG00000198951 NAGA proximal to Ph1 break Autosomal recessive 609241 Schindler disease, type III 3 +124030 CYP2D6 Cytochrome P450, subfamily IID, polypeptide 6 ENSG00000280905 CYP2D6, CPD6, P450DB1 Autosomal recessive 608902 Codeine sensitivity 3 +124030 CYP2D6 Cytochrome P450, subfamily IID, polypeptide 6 ENSG00000280905 CYP2D6, CPD6, P450DB1 Autosomal recessive 608902 Debrisoquine sensitivity 3 +613213 CYB5R3 Cytochrome b5 reductase 3 ENSG00000100243 CYB5R3, DIA1, B5R Autosomal recessive 250800 Methemoglobinemia, type I 3 +613213 CYB5R3 Cytochrome b5 reductase 3 ENSG00000100243 CYB5R3, DIA1, B5R Autosomal recessive 250800 Methemoglobinemia, type II 3 +607922 A4GALT Alpha 1,4-galactosyltransferase ENSG00000128274 A4GALT, P1PK 111400 Blood group, P1Pk system, P(2) phenotype 3 +607922 A4GALT Alpha 1,4-galactosyltransferase ENSG00000128274 A4GALT, P1PK 111400 Blood group, P1Pk system, p phenotype 3 +607922 A4GALT Alpha 1,4-galactosyltransferase ENSG00000128274 A4GALT, P1PK 111400 NOR polyagglutination syndrome 3 +135820 FBLN1 Fibulin 1 ENSG00000077942 FBLN1 Autosomal dominant 608180 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 4 +611150 ATXN10 Ataxin 10 ENSG00000130638 ATXN10, SCA10 ATTCTn repeat in intron 9 Autosomal dominant 603516 Spinocerebellar ataxia 10 3 +170998 PPARA Peroxisome proliferator-activated receptor-alpha ENSG00000186951 PPARA, PPAR Hyperapobetalipoproteinemia, susceptibility to 3 +610230 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ENSG00000100416 TRMU, MTO2 580000 Deafness, mitochondrial, modifier of 3 +610230 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ENSG00000100416 TRMU, MTO2 Autosomal recessive 613070 Liver failure, transient infantile 3 +607144 ALG12 Dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase ENSG00000182858 ALG12, CDG1G 607143 Congenital disorder of glycosylation, type Ig 3 +605908 MLC1 MLC1 gene ENSG00000100427 MLC1, LVM, VL Autosomal recessive 604004 Megalencephalic leukoencephalopathy with subcortical cysts 3 +610053 TUBGCP6 Tubulin-gamma complex-associated protein 6 ENSG00000128159 TUBGCP6, GCP6, KIAA1669, MCCRP1 Autosomal recessive 251270 Microcephaly and chorioretinopathy, autosomal recessive, 1 3 +603560 SBF1 SET-binding factor 1 (myotubularin-related protein 5) ENSG00000100241 SBF1, MTMR5, CMT4B3 Autosomal recessive 615284 Charcot-Marie-Tooth disease, type 4B3 3 +604272 SCO2 SCO2 cytochrome c oxidase assembly protein ENSG00000130489 SCO2, CEMCOX1, MYP6 Autosomal recessive 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 3 +604272 SCO2 SCO2 cytochrome c oxidase assembly protein ENSG00000130489 SCO2, CEMCOX1, MYP6 Autosomal dominant 608908 Myopia 6 3 +131222 TYMP Thymidine phosphorylase ENSG00000025708 TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1 Autosomal recessive 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 3 +612395 CHKB Choline kinase, beta ENSG00000100288 CHKB, CHKL, CKEKB, EKB, MDCMC Autosomal recessive 602541 Muscular dystrophy, congenital, megaconial type 3 +607574 ARSA Arylsulfatase A ENSG00000100299 ARSA Autosomal recessive 250100 Metachromatic leukodystrophy 3 +606230 SHANK3 SH3 and multiple ankyrin repeat domains 3 ENSG00000251322 SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 Isolated cases 606232 Phelan-McDermid syndrome 3 +606230 SHANK3 SH3 and multiple ankyrin repeat domains 3 ENSG00000251322 SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 613950 Schizophrenia 15 3 +102480 ACR Acrosin ENSG00000283539 ACR 102480 ?Male infertility due to acrosin deficiency 2 +300310 AGMX2 Agammaglobulinemia, X-linked 2 (with growth hormone deficiency) AGMX2, XLA2, IMD6 X-linked 300310 Agammaglobulinemia, X-linked 2 2 +304050 AIC Aicardi syndrome AIC ?in p22.31 with FDH as contiguous gene syndrome X-linked dominant 304050 Aicardi syndrome 2 +300870 Aneurysm, intracranial berry, 5 ANIB5 300870 Aneurysm, intracranial berry, 5 2 +300211 EMWX Episodic muscle weakness, X-linked EMWX 300211 Episodic muscle weakness, X-linked 2 +300406 FGS3 FG syndrome 3 FGS3 300406 FG syndrome 3 2 +300221 Hodgkin disease, susceptibility, pseudoautosomal HDPA 300221 Hodgkin disease susceptibility, pseudoautosomal 2 +300778 Corneal dystrophy, Lisch epithelial LECD max lod between DXYS233 and DXYS228X X-linked dominant 300778 Corneal dystrophy, Lisch epithelial 2 +300273 Multinodular goiter-2 MNG2 X-linked dominant 300273 Goiter, multinodular, 2 2 +300428 Mental retardation, X-linked, 2 MRX2 X-linked 300428 Mental retardation, X-linked 2 2 +300650 OASD Ocular albinism and sensorineural deafness OASD ?allelic to OA1 X-linked 300650 Ocular albinism with sensorineural deafness 2 +313000 Visuospatial/perceptual abilities VSPA ?X-linked recessive 313000 Turner syndrome-associated neurocognitive phenotype 2 +313000 Visuospatial/perceptual abilities VSPA ?X-linked recessive 313000 Visuospatial/perceptual abilities 2 +314700 Xg blood group XG nonlyonizing; spans pseudoautosomal boundary; XGPY on Yq11.21 Blood group, XG system 3 +312865 SHOX Short stature homeo box ENSG00000185960 SHOX, GCFX, SS, PHOG pseudoautosomal; ?gene causing short stature in Turner syndrome Autosomal recessive 249700 Langer mesomelic dysplasia 3 +312865 SHOX Short stature homeo box ENSG00000185960 SHOX, GCFX, SS, PHOG pseudoautosomal; ?gene causing short stature in Turner syndrome Autosomal dominant 127300 Leri-Weill dyschondrosteosis 3 +312865 SHOX Short stature homeo box ENSG00000185960 SHOX, GCFX, SS, PHOG pseudoautosomal; ?gene causing short stature in Turner syndrome 300582 Short stature, idiopathic familial 3 +306250 CSF2RA Colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage ENSG00000198223 CSF2RA, SMDP4 order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen 300770 Surfactant metabolism dysfunction, pulmonary, 4 3 +300180 ARSE Arylsulfatase E ENSG00000157399 ARSE, CDPX1, CDPXR CDPX1 in contiguous gene syndrome with STS X-linked recessive 302950 Chondrodysplasia punctata, X-linked recessive 3 +300427 NLGN4X Neuroligin 4 ENSG00000146938 NLGN4, KIAA1260, AUTSX2, ASPGX2 Isolated cases, X-linked, Multifactorial 300497 Asperger syndrome susceptibility, X-linked 2 3 +300427 NLGN4X Neuroligin 4 ENSG00000146938 NLGN4, KIAA1260, AUTSX2, ASPGX2 Isolated cases, X-linked, Multifactorial 300495 Autism susceptibility, X-linked 2 3 +300427 NLGN4X Neuroligin 4 ENSG00000146938 NLGN4, KIAA1260, AUTSX2, ASPGX2 Isolated cases, X-linked, Multifactorial 300495 Mental retardation, X-linked 3 +300747 STS Steroid sulfatase, microsomal (arylsulfatase C, isozyme S) ENSG00000101846 STS, ARSC1, ARSC, SSDD, XLI nonlyonizing X-linked recessive 308100 Ichthyosis, X-linked 3 +300836 ANOS1 Kallmann syndrome-1 sequence (anosmin-1) ENSG00000011201 KAL1, KMS, ADMLX, HH1 with ichthyosis in probable microdeletion syndrome X-linked 308700 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 3 +302801 CMTX2 Charcot-Marie-Tooth disease, X-linked recessive, 2 CMTX2 X-linked recessive 302801 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 2 +305435 FCP1 Fetal hemoglobin quantitative trait locus 3 HBFQTL3, FCP1, FCPX, FCP X-linked 305435 Fetal hemoglobin quantitative trait locus 3 2 +300355 MRX73 Mental retardation, X-linked 73 MRX73 between DXS8019 and DXS365 X-linked recessive 300355 Mental retardation, X-linked 73 2 +300808 GPR143 G protein-coupled receptor 143 ENSG00000101850 GPR143, OA1, NYS6 linked to XG 300814 Nystagmus 6, congenital, X-linked 3 +300808 GPR143 G protein-coupled receptor 143 ENSG00000101850 GPR143, OA1, NYS6 linked to XG X-linked 300500 Ocular albinism, type I, Nettleship-Falls type 3 +302910 CLCN4 Chloride channel-4 ENSG00000073464 CLCN4, MRX49, MRX15 X-linked recessive 300114 Mental retardation, X-linked 49/15 3 +300552 MID1 Midline-1 ENSG00000101871 MID1, OGS1, BBBG1, FXY, OSX type II defect on chr.22 X-linked recessive 300000 Opitz GBBB syndrome, type I 3 +300056 HCCS Holocytochrome c synthase (cytochrome c heme-lyase) ENSG00000004961 HCCS, MCOPS7, LSDMCA1 X-linked dominant 309801 Linear skin defects with multiple congenital anomalies 1 3 +300391 AMELX Amelogenin ENSG00000125363 AMELX, AMG, AIH1, AMGX, AI1E also Y X-linked dominant 301200 Amelogenesis imperfecta, type 1E 3 +300838 FRMPD4 FERM and PDZ domains-containing protein 4 ENSG00000169933 FRMPD4, PRESO, KIAA0316, MRX104 X-linked recessive 300983 Mental retardation, X-linked 104 3 +300202 TRAPPC2 Trafficking protein particle complex 2 (sedlin) ENSG00000196459 TRAPPC2, SEDL, SEDT X-linked recessive 313400 Spondyloepiphyseal dysplasia tarda 3 +300170 OFD1 OFD1 protein ENSG00000046651 OFD1, CXorf5, SGBS2, JBTS10, RP23 mutation identified in 1 RP23 family X-linked recessive 300804 Joubert syndrome 10 3 +300170 OFD1 OFD1 protein ENSG00000046651 OFD1, CXorf5, SGBS2, JBTS10, RP23 mutation identified in 1 RP23 family X-linked dominant 311200 Orofaciodigital syndrome I 3 +300170 OFD1 OFD1 protein ENSG00000046651 OFD1, CXorf5, SGBS2, JBTS10, RP23 mutation identified in 1 RP23 family X-linked recessive 300424 ?Retinitis pigmentosa 23 3 +300170 OFD1 OFD1 protein ENSG00000046651 OFD1, CXorf5, SGBS2, JBTS10, RP23 mutation identified in 1 RP23 family X-linked recessive 300209 Simpson-Golabi-Behmel syndrome, type 2 3 +300515 FANCB Fanconi anemia-associated polypeptide, 95kD ENSG00000181544 FAAP95, FAAP90, FLJ34064, FANCB 300514 Fanconi anemia, complementation group B 3 +311770 PIGA Phosphatidylinositol glycan, class A ENSG00000165195 PIGA, PNH1, MCAHS2 pseudogene on chr.12 X-linked recessive 300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 3 +311770 PIGA Phosphatidylinositol glycan, class A ENSG00000165195 PIGA, PNH1, MCAHS2 pseudogene on chr.12 300818 Paroxysmal nocturnal hemoglobinuria, somatic 3 +300629 AP1S2 Adaptor-related protein complex 1, sigma-2 subunit ENSG00000182287 AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS X-linked recessive 304340 Mental retardation, X-linked syndromic 5 3 +300457 NHS NHS gene ENSG00000188158 NHS, CXN, CTRCT40 X-linked 302200 Cataract 40, X-linked 3 +300457 NHS NHS gene ENSG00000188158 NHS, CXN, CTRCT40 X-linked dominant 302350 Nance-Horan syndrome 3 +300148 MEHMO MEHMO syndrome (Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) MEHMO 300148 MEHMO syndrome 2 +300203 CDKL5 Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9) ENSG00000008086 CDKL5, STK9, ISSX, EIEE2 X-linked dominant 300672 Epileptic encephalopathy, early infantile, 2 3 +300839 RS1 Retinoschisin ENSG00000102104 RS1, XLRS1 25cM from XG X-linked dominant 312700 Retinoschisis 3 +300798 PHKA2 Phosphorylase kinase, liver, alpha-2 subunit ENSG00000044446 PHKA2, PHK, XLG, PHK, PYKL, GSD9A X-linked recessive 306000 Glycogen storage disease, type IXa1 3 +300798 PHKA2 Phosphorylase kinase, liver, alpha-2 subunit ENSG00000044446 PHKA2, PHK, XLG, PHK, PYKL, GSD9A X-linked recessive 306000 Glycogen storage disease, type IXa2 3 +300502 PDHA1 Pyruvate dehydrogenase, E1-alpha polypeptide-1 ENSG00000131828 PDHA1, PHE1A, PDHAD X-linked dominant 312170 Pyruvate dehydrogenase E1-alpha deficiency 3 +300075 RPS6KA3 Ribosomal protein S6 kinase, 90kD, polypeptide 3 ENSG00000177189 RPS6KA3, RSK2, MRX19 X-linked dominant, Isolated cases 303600 Coffin-Lowry syndrome 3 +300075 RPS6KA3 Ribosomal protein S6 kinase, 90kD, polypeptide 3 ENSG00000177189 RPS6KA3, RSK2, MRX19 X-linked dominant 300844 Mental retardation, X-linked 19 3 +300226 SMPX Small muscle protein, X-linked ENSG00000091482 SMPX, DFNX4 X-linked dominant 300066 Deafness, X-linked 4 3 +300294 MBTPS2 Membrane-bound transcription factor protease, site 2 ENSG00000012174 MBTPS2, S2P, IFAP, KFSDX, OLMSX mutation identified in 1 OLMSX family X-linked recessive 308205 IFAP syndrome with or without BRESHECK syndrome 3 +300294 MBTPS2 Membrane-bound transcription factor protease, site 2 ENSG00000012174 MBTPS2, S2P, IFAP, KFSDX, OLMSX mutation identified in 1 OLMSX family X-linked recessive 308800 Keratosis follicularis spinulosa decalvans, X-linked 3 +300294 MBTPS2 Membrane-bound transcription factor protease, site 2 ENSG00000012174 MBTPS2, S2P, IFAP, KFSDX, OLMSX mutation identified in 1 OLMSX family X-linked recessive 300918 ?Olmsted syndrome, X-linked 3 +300105 SMS Spermine synthase ENSG00000102172 SMS, SRS, MRSR X-linked recessive 309583 Mental retardation, X-linked, Snyder-Robinson type 3 +300550 PHEX Phosphate regulating endopeptidase homolog, X-linked ENSG00000102174 PHEX, HYP, HPDR1, LXHR X-linked dominant 307800 Hypophosphatemic rickets, X-linked dominant 3 +300828 PTCHD1 Patched domain-containing protein 1 ENSG00000165186 PTCHD1, AUTSX4 X-linked recessive 300830 Autism, susceptibility to, X-linked 4 3 +300980 KLHL15 Kelch-like 15 ENSG00000174010 KLHL15, KIAA1677 X-linked recessive 300982 Mental retardation, X-linked 103 3 +300906 PDK3 Pyruvate dehydrogenase kinase, isoenzyme 3 ENSG00000067992 PDK3, CMTX6 1 family identified with mutation X-linked dominant 300905 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 3 +312040 POLA1 Polymerase, DNA, alpha-1 ENSG00000101868 POLA1 X-linked recessive 301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked 3 +300679 Chromosome Xp21 deletion syndrome DELXp21, CXDELp21 contiguous gene deletion syndrome 300679 Chromosome Xp21 deletion syndrome 4 +300488 Menopause, natural, age at, QTL 1 MENOQ1 X-linked dominant 300488 Menopause, natural, age at, QTL1 2 +312612 RP6 Retinitis pigmentosa-6, X-linked recessive RP6 X-linked recessive 312612 ?Retinitis pigmentosa, X-linked recessive, 6 2 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked recessive 308350 Epileptic encephalopathy, early infantile, 1 3 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked 300215 Hydranencephaly with abnormal genitalia 3 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked 300215 Lissencephaly, X-linked 2 3 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked recessive 300419 Mental retardation, X-linked 29 and others 3 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked recessive 309510 Partington syndrome 3 +300382 ARX Aristaless-related homeobox, X-linked ENSG00000004848 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 X-linked 300004 Proud syndrome 3 +300206 IL1RAPL1 Il-1 receptor accessory protein-like 1 ENSG00000169306 IL1RAPL1, IL1R8, MRX21, MRX34 X-linked recessive 300143 Mental retardation, X-linked 21/34 3 +300030 DFNX3 Deafness, X-linked 3 DFNX3, DFN4 ?same as DMD X-linked 300030 Deafness, X-linked 3 2 +300473 NR0B1 DSS-AHC critical region on the X chromosome, gene 1 ENSG00000169297 DAX1, AHC, AHX, NR0B1, SRXY2 distal to GK X-linked recessive 300200 Adrenal hypoplasia, congenital 3 +300473 NR0B1 DSS-AHC critical region on the X chromosome, gene 1 ENSG00000169297 DAX1, AHC, AHX, NR0B1, SRXY2 distal to GK X-linked 300018 46XY sex reversal 2, dosage-sensitive 3 +300474 GK Glycerol kinase ENSG00000198814 GK 2Mb distal to DMD; pseudogene on 4q32 X-linked recessive 307030 Glycerol kinase deficiency 3 +300377 DMD Dystrophin ENSG00000198947 DMD, BMD, CMD3B dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 X-linked recessive 300376 Becker muscular dystrophy 3 +300377 DMD Dystrophin ENSG00000198947 DMD, BMD, CMD3B dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 X-linked 302045 Cardiomyopathy, dilated, 3B 3 +300377 DMD Dystrophin ENSG00000198947 DMD, BMD, CMD3B dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 X-linked recessive 310200 Duchenne muscular dystrophy 3 +300858 Mental retardation, X-linked, syndromic 17 MRXS17 between rs2748314 and rs5906782 X-linked recessive 300858 Mental retardation, X-linked, syndromic 17 2 +314850 XK Kell blood group precursor ENSG00000047597 XK, MCLDS ~500kb distal to CGD X-linked 300842 McLeod syndrome with or without chronic granulomatous disease 3 +300481 CYBB Cytochrome b-245, beta polypeptide ENSG00000165168 CYBB, CGD, AMCBX2, IMD34 proximal to DMD X-linked recessive 306400 Chronic granulomatous disease, X-linked 3 +300481 CYBB Cytochrome b-245, beta polypeptide ENSG00000165168 CYBB, CGD, AMCBX2, IMD34 proximal to DMD X-linked recessive 300645 Immunodeficiency 34, mycobacteriosis, X-linked 3 +300351 Graves disease, susceptibility to, X-linked GRDX, GD3 300351 Graves disease, susceptibility to, X-linked 2 +300136 Diabetes mellitus, insulin-dependent, X-linked, susceptibility to IDDMX only with DR3 300136 Diabetes mellitus, insulin-dependent, X-linked 2 +308905 Leber optic atrophy, susceptibility to LOAS X-linked 308905 Leber optic atrophy, susceptibility to 2 +300047 MRX20 Mental retardation, X-linked-20 MRX20 X-linked 300047 Mental retardation, X-linked 20 2 +309545 Mental retardation, X-linked, syndromic 12 MRXS12 X-linked 309545 ?Mental retardation, X-linked, syndromic 12 2 +300589 Nystagmus 5, congenital, X-linked NYS5 max lod at DXS993 X-linked dominant 300589 Nystagmus 5, congenital, X-linked 2 +311050 OPA2 Optic atrophy, X-linked OPA2 X-linked 311050 Optic atrophy 2, X-linked 2 +309610 PRS Prieto syndrome (mental retardation, X-linked, syndromic 2, with dysmorphism and cerebral atrophy) PRS, MRXS2 X-linked recessive 309610 Prieto syndrome 2 +312610 RPGR Retinitis pigmentosa GTPase regulator ENSG00000156313 RPGR, RP3, CRD, RP15, COD1, CORDX1 X-linked 304020 Cone-rod dystrophy, X-linked, 1 3 +312610 RPGR Retinitis pigmentosa GTPase regulator ENSG00000156313 RPGR, RP3, CRD, RP15, COD1, CORDX1 X-linked recessive 300834 Macular degeneration, X-linked atrophic 3 +312610 RPGR Retinitis pigmentosa GTPase regulator ENSG00000156313 RPGR, RP3, CRD, RP15, COD1, CORDX1 300029 Retinitis pigmentosa 3 3 +312610 RPGR Retinitis pigmentosa GTPase regulator ENSG00000156313 RPGR, RP3, CRD, RP15, COD1, CORDX1 300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 3 +300461 OTC Ornithine transcarbamylase ENSG00000036473 OTC proximal to DMD, CGD X-linked recessive 311250 Ornithine transcarbamylase deficiency 3 +300096 TSPAN7 Tetraspanin 7 ENSG00000156298 TSPAN7, TM4SF2, MXS1, A15, MRX58 X-linked recessive 300210 Mental retardation, X-linked 58 3 +300485 BCOR BCL6 corepressor ENSG00000183337 BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 X-linked dominant 300166 Microphthalmia, syndromic 2 3 +300556 ATP6AP2 ATPase, H+ transporting, lysosomal, accessory protein 2 ENSG00000182220 ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS mutation identified in 1 MRXSH family and 1 XPDS family X-linked recessive 300423 ?Mental retardation, X-linked, syndromic, Hedera type 3 +300556 ATP6AP2 ATPase, H+ transporting, lysosomal, accessory protein 2 ENSG00000182220 ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS mutation identified in 1 MRXSH family and 1 XPDS family Autosomal recessive 300911 ?Parkinsonism with spasticity, X-linked 3 +300072 USP9X Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked) ENSG00000124486 USP9X, DFFRX, MRX99, MRXS99F X-linked recessive 300919 Mental retardation, X-linked 99 3 +300072 USP9X Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked) ENSG00000124486 USP9X, DFFRX, MRX99, MRXS99F X-linked dominant 300968 Mental retardation, X-linked 99, syndromic, female-restricted 3 +300160 DDX3X DEAD/H box-3, X-linked ENSG00000215301 DDX3X, DDX3, DBX, MRX102 X-linked recessive, X-linked dominant 300958 Mental retardation, X-linked 102 3 +300278 NYX Nyctalopin ENSG00000188937 NYX, CSNB1A, NBM1 X-linked recessive 310500 Night blindness, congenital stationary (complete), 1A, X-linked 3 +300172 CASK Calcium/calmodulin-dependent serine protein kinase ENSG00000147044 CASK, MICPCH, FGS4, CMG, MRXSNA 300422 FG syndrome 4 3 +300172 CASK Calcium/calmodulin-dependent serine protein kinase ENSG00000147044 CASK, MICPCH, FGS4, CMG, MRXSNA X-linked dominant 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 3 +300172 CASK Calcium/calmodulin-dependent serine protein kinase ENSG00000147044 CASK, MICPCH, FGS4, CMG, MRXSNA 300422 Mental retardation, with or without nystagmus 3 +300652 Angioma serptiginosum, X-linked AGSPX between DXS8026 and DXS106 X-linked dominant 300652 Angio serpiginosum 2 +300578 Chromosome Xp11.3 deletion syndrome (X-linked mental retardation with retinitis pigmentosa) DELXp11.3, CXDELp11.3 X-linked recessive 300578 Chromosome Xp11.3 deletion syndrome 4 +300062 MRX14 Mental retardation, X-linked-14 MRX14 X-linked 300062 Mental retardation, X-linked 14 2 +300115 MRX50 Mental retardation, X-linked nonspecific, type 50 MRX50 X-linked 300115 Mental retardation, X-linked 50 2 +300505 MRX84 Mental retardation, X-linked 84 MRX84 29 other MRX loci in same region X-linked recessive 300505 Mental retardation, X-linked 84 2 +300848 Mental retardation, X-linked 89 MRX89 t(X;7)(p11.3;q11.21) X-linked dominant 300848 Mental retardation, X-linked 89 2 +300851 Mental retardation, X-linked 92 MRX92 previously associated with ZNF674 X-linked recessive 300851 Mental retardation, X-linked 92 2 +300218 MRXS7 Mental retardation, X-linked, syndromic 7 MRXS7 300218 Mental retardation, X-linked syndromic 7 2 +309850 MAOA Monoamine oxidase A ENSG00000189221 MAOA, BRNRS NDP, MAOA, MAOB closely linked X-linked recessive 300615 Antisocial behavior 3 +309850 MAOA Monoamine oxidase A ENSG00000189221 MAOA, BRNRS NDP, MAOA, MAOB closely linked X-linked recessive 300615 Brunner syndrome 3 +300658 NDP Norrin ENSG00000124479 NDP, ND, EVR2 305390 Exudative vitreoretinopathy 2, X-linked 3 +300658 NDP Norrin ENSG00000124479 NDP, ND, EVR2 X-linked recessive 310600 Norrie disease 3 +300128 KDM6A Lysine (K)-specific demethylase 6A ENSG00000147050 KDM6A, UTX, KABUK2 UTY also in mouse and man; escapes inactivation X-linked dominant 300867 Kabuki syndrome 2 3 +300757 RP2 Retinitis pigmentosa-2, X-linked recessive ENSG00000102218 RP2 X-linked recessive 312600 Retinitis pigmentosa 2 3 +300403 NDUFB11 NADH-dehydrogenase 1 beta subcomplex, 11 ENSG00000147123 NDUFB11, LSDMCA3 X-linked dominant 300952 Linear skin defects with multiple congenital anomalies 3 3 +300080 RBM10 RNA-binding motif protein 10 ENSG00000182872 RBM10, DXS8237E, KIAA0122, TARPS X-linked recessive 311900 TARP syndrome 3 +314370 UBA1 Ubiquitin-like modifier-activating enzyme 1 ENSG00000130985 UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1 escapes inactivation X-linked recessive 301830 Spinal muscular atrophy, X-linked 2, infantile 3 +313440 SYN1 Synapsin I ENSG00000008056 SYN1 5kb from PFC X-linked recessive, X-linked dominant 300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders 3 +300801 Chromosome Xp11.23-p11.22 duplication syndrome DUPXp11.23p11.22, CXDUPp11.23p11.22 X-linked dominant 300801 Chromosome Xp11.23-p11.22 duplication syndrome 4 +300433 MRX81 Mental retardation, X-linked 81 MRX81 between DXS1039 and DXS1216 X-linked dominant 300433 Mental retardation, X-linked 81 2 +300383 CFP Properdin P factor, complement ENSG00000126759 PFC, PFD X-linked recessive 312060 Properdin deficiency, X-linked 3 +314998 ZNF81 Zinc finger protein-81 (HFZ20) ENSG00000197779 ZNF81, MRX45 X-linked 300498 Mental retardation, X-linked 45 3 +312820 SSX1 Synovial sarcoma, X breakpoint 1 ENSG00000126752 SSX1, SSRC fused with SYT in synovial sarcoma 300813 ?Sarcoma, synovial 3 +300499 FTSJ1 FTSJ homolog 1 ENSG00000068438 FTSJ1, JM23, SPB1, MRX44, MRX9 X-linked recessive 309549 Mental retardation, X-linked 9 3 +300651 PORCN Porcupine, Drosophila, homolog of ENSG00000102312 PORCN, PORC, DHOF, FODH X-linked dominant 305600 Focal dermal hypoplasia 3 +300205 EBP Emopamil-binding protein ENSG00000147155 EBP, CDPX2, CPXD, CPX, MEND X-linked dominant 302960 Chondrodysplasia punctata, X-linked dominant 3 +300205 EBP Emopamil-binding protein ENSG00000147155 EBP, CDPX2, CPXD, CPX, MEND X-linked recessive 300960 MEND syndrome 3 +300392 WAS Wiskott-Aldrich syndrome ENSG00000015285 WAS, IMD2, THC1, SCNX t(18;X)(q11.2;p11.2); distal to TIMP X-linked recessive 300299 Neutropenia, severe congenital, X-linked 3 +300392 WAS Wiskott-Aldrich syndrome ENSG00000015285 WAS, IMD2, THC1, SCNX t(18;X)(q11.2;p11.2); distal to TIMP X-linked recessive 313900 Thrombocytopenia, X-linked 3 +300392 WAS Wiskott-Aldrich syndrome ENSG00000015285 WAS, IMD2, THC1, SCNX t(18;X)(q11.2;p11.2); distal to TIMP X-linked recessive 313900 Thrombocytopenia, X-linked, intermittent 3 +300392 WAS Wiskott-Aldrich syndrome ENSG00000015285 WAS, IMD2, THC1, SCNX t(18;X)(q11.2;p11.2); distal to TIMP X-linked recessive 301000 Wiskott-Aldrich syndrome 3 +305371 GATA1 GATA-binding protein-1 (globin transcription factor-1) ENSG00000102145 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP X-linked recessive 300835 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 3 +305371 GATA1 GATA-binding protein-1 (globin transcription factor-1) ENSG00000102145 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP 190685 Leukemia, megakaryoblastic, with or without Down syndrome, somatic 3 +305371 GATA1 GATA-binding protein-1 (globin transcription factor-1) ENSG00000102145 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP X-linked recessive 314050 Thrombocytopenia with beta-thalassemia, X-linked 3 +305371 GATA1 GATA-binding protein-1 (globin transcription factor-1) ENSG00000102145 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP X-linked recessive 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 3 +300272 HDAC6 Histone deacetylase 6 ENSG00000094631 HDAC6, CPBHM mutation identified in 1 CPBHM family X-linked dominant 300863 ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 3 +300463 PQBP1 Polyglutamine-binding protein 1 ENSG00000102103 PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 X-linked recessive 309500 Renpenning syndrome 3 +314375 SLC35A2 Solute carrier family 35 (UDP-galactose transporter), member 2 ENSG00000102100 SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M X-linked dominant, Somatic mosaicism 300896 Congenital disorder of glycosylation, type IIm 3 +314310 TFE3 Transcription factor for IgH enhancer ENSG00000068323 TFE3, RCCX1 fuses with PRCC in RCCP 300854 Renal cell carcinoma, papillary, 1 3 +300526 WDR45 WD repeat-containing protein 45 ENSG00000196998 WDR45, WIPI4, NBIA5 ?pseudogene on 4q31.3 X-linked dominant 300894 Neurodegeneration with brain iron accululation 5 3 +313475 SYP Synaptophysin ENSG00000102003 SYP, MRXSYP X-linked dominant 300802 Mental retardation, X-linked 96 3 +300110 CACNA1F Calcium channel, voltage-dependent, alpha-1F subunit ENSG00000102001 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 X-linked 300600 Aland Island eye disease 3 +300110 CACNA1F Calcium channel, voltage-dependent, alpha-1F subunit ENSG00000102001 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 X-linked recessive 300476 Cone-rod dystrophy, X-linked, 3 3 +300110 CACNA1F Calcium channel, voltage-dependent, alpha-1F subunit ENSG00000102001 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 X-linked 300071 Night blindness, congenital stationary (incomplete), 2A, X-linked 3 +300859 CCDC22 Coiled-coil domain-containing protein 22 ENSG00000101997 CCDC22, RTSC2 X-linked recessive 300963 Ritscher-Schinzel syndrome 2 3 +300292 FOXP3 Forkhead box P3 (scurfin) ENSG00000049768 FOXP3, IPEX, AIID, XPID, PIDX Autosomal recessive 222100 Diabetes mellitus, type I, susceptibility to 3 +300292 FOXP3 Forkhead box P3 (scurfin) ENSG00000049768 FOXP3, IPEX, AIID, XPID, PIDX X-linked recessive 304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 3 +300975 USP27X Ubiquitin-specific protease 27, X-linked ENSG00000273820 USP27X, USP22L, MRX105 X-linked recessive 300984 Mental retardation 105 3 +300008 CLCN5 Chloride channel-5 ENSG00000171365 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 X-linked recessive 300009 Dent disease 3 +300008 CLCN5 Chloride channel-5 ENSG00000171365 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 X-linked recessive 300554 Hypophosphatemic rickets 3 +300008 CLCN5 Chloride channel-5 ENSG00000171365 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 X-linked recessive 310468 Nephrolithiasis, type I 3 +300008 CLCN5 Chloride channel-5 ENSG00000171365 CLCN5, CLCK2, NPHL2, DENTS, NPHL1 X-linked recessive 308990 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 3 +300705 Xp11.22 microduplication syndrome DUPXp11.22, MRX17, MRX31 minimal duplicated region 228 kb overlapping HUWE1 and HSD17B10 300705 Xp11.22 microduplication syndrome 4 +300704 Prostate cancer, hereditary, X-linked 2 HPCX2 associated with rs5945572 300704 Prostate cancer, hereditary, X-linked 2 2 +300856 Hypospadias 4, X-linked, susceptibility to HYSP4 associated with rs1934179 and rs7063116 300856 Hypospadias 4, X-linked, susceptibility to 2 +300579 SHROOM4 Shroom family member 4 ENSG00000158352 SHROOM4, KIAA1202, SDSX mutation identified in 1 SDSX family 300434 ?Stocco dos Santos X-linked mental retardation syndrome 3 +300247 BMP15 Bone morphogenetic protein 15 ENSG00000130385 BMP15, GDF9B, ODG2, POF4 300510 Ovarian dysgenesis 2 3 +300247 BMP15 Bone morphogenetic protein 15 ENSG00000130385 BMP15, GDF9B, ODG2, POF4 300510 Premature ovarian failure 4 3 +300192 SSX2 Sarcoma, synovial, X breakpoint 2 ENSG00000241476 SSX2 300813 ?Sarcoma, synovial 3 +314690 KDM5C Lysine-specific demethylase 5C (Jumonji, AT-rich interactive domain 1C) ENSG00000126012 KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ escapes inactivation X-linked recessive 300534 Mental retardation, X-linked, syndromic, Claes-Jensen type 3 +300522 IQSEC2 IQ motif- and Sec7 domain-containing protein 2 ENSG00000124313 IQSEC2, KIAA0522, MRX1, MRX78 X-linked dominant 309530 Mental retardation, X-linked 1/78 3 +300040 SMC1A Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of; DXS423E; SB1.8) ENSG00000072501 DXS423E, SMC1, CDLS2 escapes lyonization X-linked dominant 300590 Cornelia de Lange syndrome 2 3 +300256 HSD17B10 17-beta-hydroxysteroid dehydrogenase X ENSG00000072506 HSD17B10, HADH2, ERAB, MRXS10 mutation identified in 1 MRXS10 family X-linked dominant 300438 17-beta-hydroxysteroid dehydrogenase X deficiency 3 +300256 HSD17B10 17-beta-hydroxysteroid dehydrogenase X ENSG00000072506 HSD17B10, HADH2, ERAB, MRXS10 mutation identified in 1 MRXS10 family X-linked recessive 300220 ?Mental retardation, X-linked syndromic 10 3 +300697 HUWE1 HECT, UBA, and WWE domains-containing protein 1 ENSG00000086758 HUWE1, UREB1, KIAA0312, LASU1 300706 Mental retardation, X-linked syndromic, Turner type 3 +300560 PHF8 PHD finger protein 8 ENSG00000172943 PHF8, ZNF422, KIAA1111, MRXSSD X-linked recessive 300263 Mental retardation syndrome, X-linked, Siderius type 3 +300945 TSR2 TSR2, 20S rRNA accumulation, S. cerevisiae, homolog of ENSG00000158526 TSR2, WGG1, DBA14 mutation identified in 1 DBA14 family X-linked recessive 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 3 +300546 FGD1 FYVE, RhoGEF, and PH domain-containing protein 1 ENSG00000102302 FGD1, FGDY, AAS, MRXS16 X-linked recessive 305400 Aarskog-Scott syndrome 3 +300546 FGD1 FYVE, RhoGEF, and PH domain-containing protein 1 ENSG00000102302 FGD1, FGDY, AAS, MRXS16 X-linked recessive 305400 Mental retardation, X-linked syndromic 16 3 +300504 ATRX Mental retardation, X-linked 52 ENSG00000085224 MRX52 max lod at DXS559 X-linked recessive 300504 Mental retardation, X-linked 52 2 +300470 MAGED2 Melanoma antigen, family D, 2 ENSG00000102316 MAGED2, MAGED, BARTS5 X-linked recessive 300971 Bartter syndrome, type 5, antenatal, transient 3 +301300 ALAS2 Aminolevulinate, delta-, synthase-2 ENSG00000158578 ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1, SIDBA1 X-linked recessive 300751 Anemia, sideroblastic, 1 3 +301300 ALAS2 Aminolevulinate, delta-, synthase-2 ENSG00000158578 ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1, SIDBA1 X-linked dominant 300752 Protoporphyria, erythropoietic, X-linked 3 +300264 UBQLN2 Ubiquilin 2 ENSG00000188021 UBQLN2, PLIC2, CHAP1, ALS15 X-linked dominant 300857 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 3 +300710 Alopecia, androgenetic, 2 AGA2 associated with rs6152 300710 Alopecia, androgenetic, 2 2 +300082 CGF1 Cognitive function-1, social CGF1 imprinted locus X-linked 300082 Social cognition 2 +300125 Migraine, familial typical, susceptibility to, 2 MGR2 X-linked 300125 Migraine, familial typical, susceptibility to, 2 2 +300259 Mycobacterium tuberculosis, susceptibility to, X-linked MTBSX 300259 Mycobacerium tuberculosis, susceptibility, X-linked 2 +300429 ARHGEF9 Rho guanine nucleotide exchange factor 9 ENSG00000131089 ARHGEF9, PEM2, KIAA0424, EIEE8 X-linked recessive 300607 Epileptic encephalopathy, early infantile, 8 3 +300266 SPG16 Spastic paraplegia 16, X-linked, complicated SPG16 X-linked recessive 300266 Spastic paraplegia 16, X-linked, complicated 2 +300647 AMER1 APC membrane recruitment protein 1 ENSG00000184675 AMER1, FAM123B, WTX, OSCS X-linked dominant 300373 Osteopathia striata with cranial sclerosis 3 +300897 ZC4H2 Zinc finger C4H2 domain-containing protein ENSG00000126970 ZC4H2, KIAA1166, WRWF X-linked recessive 314580 Wieacker-Wolff syndrome 3 +300454 MRX77 Mental retardation, X-linked 77 MRX77 X-linked recessive 300454 Mental retardation, X-linked 77 2 +300709 Mental retardation, X-linked, syndromic 9 MRXS9 between DXS1111 and DXS1197 300709 Mental retardation, X-linked, syndromic 9 2 +300964 LAS1L Las1-like ribosome biogenesis factor ENSG00000001497 LAS1L, WTS X-linked recessive 309585 Wilson-Turner syndrome 3 +313700 AR Androgen receptor (dihydrotestosterone receptor) ENSG00000169083 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 X-linked recessive 300068 Androgen insensitivity 3 +313700 AR Androgen receptor (dihydrotestosterone receptor) ENSG00000169083 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 X-linked recessive 312300 Androgen insensitivity, partial, with or without breast cancer 3 +313700 AR Androgen receptor (dihydrotestosterone receptor) ENSG00000169083 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 X-linked recessive 300633 Hypospadias 1, X-linked 3 +313700 AR Androgen receptor (dihydrotestosterone receptor) ENSG00000169083 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 Autosomal dominant 176807 Prostate cancer, susceptibility to 3 +313700 AR Androgen receptor (dihydrotestosterone receptor) ENSG00000169083 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 X-linked recessive 313200 Spinal and bulbar muscular atrophy of Kennedy 3 +300127 OPHN1 Oligophrenin-1 ENSG00000079482 OPHN1, MRX60 X-linked recessive 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 3 +300580 Myopathy, congenital, with fiber-type disproportion, X-linked CFTDX between DXS8019 and DXS99 X-linked dominant 300580 Myopathy, congenital, with fiber-type disproportion, X-linked 2 +309605 MCS Miles-Carpenter syndrome (mental retardation, X-linked, syndromic 4, with congenital contractures and low fingertip arches) MCS, MRXS4 linked to DXYS1 X-linked 309605 Miles-Carpenter syndrome 2 +300035 EFNB1 eph-related receptor tyrosine kinase ligand 2 (ephrin B1) ENSG00000090776 EFNB1, EPLG2, CFNS, CFND ?CFNS also on Xp22 X-linked dominant 304110 Craniofrontonasal dysplasia 3 +300451 EDA Ectodysplasin A ENSG00000158813 EDA, ED1, ECTD1, EDA, HED1, STHAGX1 X-linked recessive 305100 Ectodermal dysplasia 1, hypohidrotic, X-linked 3 +300451 EDA Ectodysplasin A ENSG00000158813 EDA, ED1, ECTD1, EDA, HED1, STHAGX1 X-linked dominant 313500 Tooth agenesis, selective, X-linked 1 3 +300139 IGBP1 Immunoglobulin-binding protein 1 ENSG00000089289 IGBP1 X-linked recessive 300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 3 +300521 KIF4A Kinesin family member 4A ENSG00000090889 KIF4A, KIF4, MRX100 mutation identified in 1 MRX100 family X-linked recessive 300923 ?Mental retardation, X-linked 100 3 +300189 DLG3 Discs large, Drosophila, homolog of, 3 ENSG00000082458 DLG3, NEDLG, SAP102, MRX90 X-linked recessive 300850 Mental retardation, X-linked 90 3 +300311 TEX11 Testis-expressed gene 11 ENSG00000120498 TEX11, SPGFX2 X-linked recessive 309120 Spermatogenic failure, X-linked, 2 3 +308380 IL2RG Interleukin-2 receptor, gamma ENSG00000147168 IL2RG, SCIDX1, SCIDX, IMD4 linked to DXS159 X-linked recessive 312863 Combined immunodeficiency, X-linked, moderate 3 +308380 IL2RG Interleukin-2 receptor, gamma ENSG00000147168 IL2RG, SCIDX1, SCIDX, IMD4 linked to DXS159 X-linked recessive 300400 Severe combined immunodeficiency, X-linked 3 +300188 MED12 Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of ENSG00000184634 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX X-linked recessive 309520 Lujan-Fryns syndrome 3 +300188 MED12 Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of ENSG00000184634 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX X-linked recessive 300895 Ohdo syndrome, X-linked 3 +300188 MED12 Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of ENSG00000184634 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX X-linked recessive 305450 Opitz-Kaveggia syndrome 3 +300336 NLGN3 Neuroligin 3 ENSG00000196338 NLGN3, ASPGX1, AUTSX1 Isolated cases, X-linked, Multifactorial 300494 Asperger syndrome susceptibility, X-linked 1 3 +300336 NLGN3 Neuroligin 3 ENSG00000196338 NLGN3, ASPGX1, AUTSX1 Isolated cases, X-linked, Multifactorial 300425 Autism susceptibility, X-linked 1 3 +304040 GJB1 Gap junction protein, beta-1, 32kD (connexin 32) ENSG00000169562 GJB1, CX32, CMTX1 X-linked dominant 302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 3 +300084 NONO Non-Pou domain-containing octamer (ATGCAAAT) binding protein (nuclear RNA-binding protein, 54-kD) ENSG00000147140 NONO, NRB54, MRXS34 2Mb proximal to PHKA1 Autosomal dominant 300967 Mental retardation, X-linked, syndromic 34 3 +313650 TAF1 TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD ENSG00000147133 TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 SVA retrotransposon insertion X-linked recessive 314250 Dystonia-Parkinsonism, X-linked 3 +313650 TAF1 TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD ENSG00000147133 TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 SVA retrotransposon insertion X-linked recessive 300966 Mental retardation, X-linked, syndromic 33 3 +300269 HDAC8 Histone deacetylase 8 ENSG00000147099 HDAC8, MRXS6, CDLS5 X-linked dominant 300882 Cornelia de Lange syndrome 5 3 +311870 PHKA1 Phosphorylase kinase, muscle, alpha polypeptide ENSG00000067177 PHKA1 ?proximal and close to PGKA; X-linked recessive 300559 Muscle glycogenosis 3 +300262 Abidi X-linked mental retardation syndrome MRXSAB 300262 Mental retardation, X-linked syndromic, Abidi type 2 +314670 XIST X chromosome controlling element (X-inactivation center) ENSG00000229807 XIC, XCE, XIST, SXI1 q13-q21; metaphase bend, or fold, at q13.3-q21.1 300087 X-inactivation, familial skewed 3 +300095 SLC16A2 Solute carrier family 16 (monocarboxylic acid transporters), member 2 ENSG00000147100 SLC16A2, DXS128, XPCT X-linked dominant 300523 Allan-Herndon-Dudley syndrome 3 +300379 RLIM Putative RING zinc finger protein NY-REN-43 antigen ENSG00000131263 RNF12, RLIM, MRX61 X-linked recessive 300978 Mental retardation, X-linked 61 3 +300524 KIAA2022 KIAA2022 gene ENSG00000050030 KIAA2022, MRX98 inv(X)(q13;p22) X-linked recessive 300912 Mental retardation, X-linked 98 3 +300135 ABCB7 ATP-binding cassette-7 ENSG00000131269 ABCB7, ABC7, ASAT X-linked recessive 301310 Anemia, sideroblastic, with ataxia 3 +300576 ZDHHC15 Zinc finger DHHC domain-containing protein 15 ENSG00000102383 ZDHHC15, MRX91 disruption of ZDHHC15 identified in 1 patient X-linked dominant 300577 ?Mental retardation, X-linked 91 3 +303110 Chromosome Xq21 deletion syndrome DELXq21, CXDELq21 at least CHM and POU3F4 deleted X-linked recessive 303110 Choroideremia, deafness, and mental retardation 4 +300557 PARK12 Parkinson disease-12 PARK12 max lod with DXS1106, DXS8055, DXS1001 300557 Parkinson disease 12 2 +300827 FGF16 Fibroblast growth factor 16 ENSG00000196468 FGF16, MF4 previously mapped to 8q21.3 X-linked recessive 309630 Metacarpal 4-5 fusion 3 +300032 ATRX ATR-X gene (helicase 2; X-linked nuclear protein) ENSG00000085224 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 300448 Alpha-thalassemia myelodysplasia syndrome, somatic 3 +300032 ATRX ATR-X gene (helicase 2; X-linked nuclear protein) ENSG00000085224 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 X-linked dominant 301040 Alpha-thalassemia/mental retardation syndrome 3 +300032 ATRX ATR-X gene (helicase 2; X-linked nuclear protein) ENSG00000085224 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 X-linked recessive 309580 Mental retardation-hypotonic facies syndrome, X-linked 3 +300715 MAGT1 Magnesium transporter 1 ENSG00000102158 MAGT1, IAP, XMEN 300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 3 +300885 COX7B Cytochrome c oxidase, subunit VIIb ENSG00000131174 COX7B, LSDMCA2 X-linked dominant 300887 Linear skin defects with multiple congenital anomalies 3 +300011 ATP7A ATPase, Cu++ transporting, alpha polypeptide ENSG00000165240 ATP7A, MNK, MK, OHS, SMAX3 probably Xq13.2-q13.3, ~150kb prox. to PGK1 X-linked recessive 309400 Menkes disease 3 +300011 ATP7A ATPase, Cu++ transporting, alpha polypeptide ENSG00000165240 ATP7A, MNK, MK, OHS, SMAX3 probably Xq13.2-q13.3, ~150kb prox. to PGK1 X-linked recessive 304150 Occipital horn syndrome 3 +300011 ATP7A ATPase, Cu++ transporting, alpha polypeptide ENSG00000165240 ATP7A, MNK, MK, OHS, SMAX3 probably Xq13.2-q13.3, ~150kb prox. to PGK1 X-linked recessive 300489 Spinal muscular atrophy, distal, X-linked 3 3 +311800 PGK1 Phosphoglycerate kinase-1 ENSG00000102144 PGK1, PGKA ?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6 X-linked recessive 300653 Phosphoglycerate kinase 1 deficiency 3 +300307 TBX22 T-box 22 ENSG00000122145 TBX22, CPX, ABERS 1 ABERS family identified with mutation X-linked 302905 ?Abruzzo-Erickson syndrome 3 +300307 TBX22 T-box 22 ENSG00000122145 TBX22, CPX, ABERS 1 ABERS family identified with mutation X-linked 303400 Cleft palate with ankyloglossia 3 +300553 BRWD3 Bromodomain-and WD repeat-containing protein 3 ENSG00000165288 BRWD3, MRX93 X-linked recessive 300659 Mental retardation, X-linked 93 3 +300039 POU3F4 POU domain, class 3, transcription factor 4 ENSG00000196767 POU3F4, DFN3, DFNX2 X-linked recessive 304400 Deafness, X-linked 2 3 +314990 ZNF711 Zinc finger protein-711 ENSG00000147180 ZNF711, ZNF6, CMPX1, MRX97 X-linked 300803 Mental retardation, X-linked 97 3 +300603 POF1B FLJ22792 gene ENSG00000124429 FLJ22792, POF1B, POF2B 300604 Premature ovarian failure 2B 3 +300390 CHM Rab escort protein 1 ENSG00000188419 CHM, TCD X-linked dominant 303100 Choroideremia 3 +300756 Alzheimer disease 16 AD16 associated with rs5984894 300756 Alzheimer disease 16 2 +300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type MRXSCS max lod at DXS1120 X-linked recessive 300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type 2 +300108 DIAPH2 Diaphanous, Drosophila, homolog of, 2 ENSG00000147202 DIAPH2, DIA, POF2 300511 Premature ovarian failure 3 +301201 AIH3 Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2 AI1E2, AIH3 X-linked 301201 ?Amelogenesis imperfecta, type IE, X-linked 2 2 +300460 PCDH19 Protocadherin 19 ENSG00000165194 PCDH19, KIAA1313, EFMR, EIEE9 X-linked 300088 Epileptic encephalopathy, early infantile, 9 3 +300642 SRPX2 SUSHI repeat-containing protein, X-linked, 2 ENSG00000102359 SRPX2, SRPUL, RESDX mutation identified in 1 RESDX family 300643 ?Rolandic epilepsy, mental retardation, and speech dyspraxia 3 +300356 TIMM8A Translocase of inner mitochondrial membrane 8, yeast, homolog of, A ENSG00000126953 TIMM8A, DFN1, DDP, MTS, DDP1 X-linked recessive 304700 Mohr-Tranebjaerg syndrome 3 +300300 BTK Bruton agammaglobulinemia tyrosine kinase ENSG00000010671 BTK, AGMX1, IMD1, XLA, AT X-linked recessive 307200 Agammaglobulinemia and isolated hormone deficiency 3 +300300 BTK Bruton agammaglobulinemia tyrosine kinase ENSG00000010671 BTK, AGMX1, IMD1, XLA, AT X-linked recessive 300755 Agammaglobulinemia, X-linked 1 3 +300644 GLA Galactosidase, alpha ENSG00000102393 GLA X-linked 301500 Fabry disease 3 +300644 GLA Galactosidase, alpha ENSG00000102393 GLA X-linked 301500 Fabry disease, cardiac variant 3 +300324 MRX53 Mental retardation, X-linked-53 MRX53 X-linked recessive 300324 Mental retardation, X-linked 53 2 +300401 PLP1 Proteolipid protein 1 ENSG00000123560 PLP1, PMD, HLD1, SPG2 X-linked recessive 312080 Pelizaeus-Merzbacher disease 3 +300401 PLP1 Proteolipid protein 1 ENSG00000123560 PLP1, PMD, HLD1, SPG2 X-linked recessive 312920 Spastic paraplegia 2, X-linked 3 +300194 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) AMMEC, DELXq22.3, CXDELq22.3 contiguous gene deletion syndrome 300194 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 4 +300581 FGS5 FG syndrome 5 FGS5 300581 FG syndrome 5 2 +314200 SERPINA7 Thyroxine-binding globulin ENSG00000123561 TBG, TBGQTL 300932 Thyroxine-binding globulin QTL 3 +311850 PRPS1 Phosphoribosyl pyrophosphate synthetase-1 ENSG00000147224 PRPS1, CMTX5, DFNX1, DFN2 X-linked recessive 301835 Arts syndrome 3 +311850 PRPS1 Phosphoribosyl pyrophosphate synthetase-1 ENSG00000147224 PRPS1, CMTX5, DFNX1, DFN2 X-linked recessive 311070 Charcot-Marie-Tooth disease, X-linked recessive, 5 3 +311850 PRPS1 Phosphoribosyl pyrophosphate synthetase-1 ENSG00000147224 PRPS1, CMTX5, DFNX1, DFN2 X-linked 304500 Deafness, X-linked 1 3 +311850 PRPS1 Phosphoribosyl pyrophosphate synthetase-1 ENSG00000147224 PRPS1, CMTX5, DFNX1, DFN2 X-linked recessive 300661 Gout, PRPS-related 3 +311850 PRPS1 Phosphoribosyl pyrophosphate synthetase-1 ENSG00000147224 PRPS1, CMTX5, DFNX1, DFN2 X-linked recessive 300661 Phosphoribosylpyrophosphate synthetase superactivity 3 +300204 MID2 Midline 2 ENSG00000080561 MID2, MRX101 mutation identified in 1 MRX101 family X-linked recessive 300928 ?Mental retardation, X-linked 101 3 +303631 COL4A6 Collagen IV, alpha-6 polypeptide ENSG00000197565 COL4A6, DELXq22.3, CXDELq22.3, DFNX6 mutation identified in 1 DFNX6 family X-linked recessive 300914 ?Deafness, X-linked 6 3 +303630 COL4A5 Collagen IV, alpha-5 polypeptide ENSG00000188153 COL4A5, ATS, ASLN diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 X-linked dominant 301050 Alport syndrome 3 +300464 Coronary heart disease, susceptibility to, 3 CHDS3 300464 Coronary heart disease, susceptibility to, 3 2 +300711 Pyloric stenosis, infantile hypertrophic, 4 IHPS4 max lod at rs3027802 300711 Pyloric stenosis, infantile hypertrophic, 4 2 +300046 MRX23 Mental retardation, X-linked-23 MRX23 other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80 X-linked 300046 Mental retardation, X-linked 23 2 +300613 MYP13 Myopia 13 MYP13 between DXS1210 and DXS1227 300613 Myopia 13 2 +300157 ACSL4 Acyl-CoA synthetase long-chain family member 4 ENSG00000068366 ACSL4, FACL4, ACS4, MRX63 X-linked dominant 300387 Mental retardation, X-linked 63 3 +300350 CHRDL1 Chordin-like 1 ENSG00000101938 CHRDL1, VOPT, MGC1 X-linked recessive 309300 Megalocornea 1, X-linked 3 +300142 PAK3 p21-activated kinase-3 ENSG00000077264 PAK3, MRX30, MRX47 X-linked recessive 300558 Mental retardation, X-linked 30/47 3 +300121 DCX Doublecortin ENSG00000077279 DCX, DBCN, LISX X-linked 300067 Lissencephaly, X-linked 3 +300121 DCX Doublecortin ENSG00000077279 DCX, DBCN, LISX X-linked 300067 Subcortical laminal heteropia, X-linked 3 +300776 ALG13 Alg13, S. cerevisiae, homolog of ENSG00000101901 ALG13, GLT28D1, CDG1S, EIEE36 X-linked recessive 300884 Epileptic encephalopathy, early infantile, 36 3 +300131 PLS3 Plastin 3 ENSG00000102024 PLS3, BMND18 X-linked dominant 300910 Bone mineral density QTL18, osteoporosis 3 +300444 SLC6A14 Solute carrier family 6 (neurotransmitter transporter), member 14 ENSG00000268104 SLC6A14, OBX, BMIQ11 300306 Obesity, susceptibility to, BMIQ11 3 +300700 ADFN Albinism-deafness syndrome ADFN, ALDS ~8cM proximal to F9 X-linked 300700 Albinism-deafness syndrome 2 +301845 Bazex syndrome BZX X-linked dominant 301845 Bazex syndrome 2 +304730 Corneal dermoids CND X-linked 304730 Dermoids of cornea 2 +300360 Mental retardation, X-linked, with short stature MRSS 300360 Mental retardation, X-linked, with short stature 2 +300518 MRX82 Mental retardation, X-linked 82 MRX82 between DXS6805 and DXS7346 X-linked recessive 300518 Mental retardation, X-linked 82 2 +300852 Mental retardation, X-linked 88 MRX88 300852 Mental retardation, X-linked 88 2 +300245 Ptosis, hereditary congenital 2 PTOS2, PTOSX X-linked dominant 300245 Ptosis, hereditary congenital 2 2 +300378 Radial ray deficiency RRDX 300378 Radial ray deficiency 2 +300750 SPG34 Spastic paraplegia 34, X-linked SPG34 max lod at DXS8057 X-linked recessive 300750 Spastic paraplegia 34, X-linked 2 +300591 Stature quantitative trait locus 6 STQTL6 max lod at DXS8067 300591 Stature QTL 6 2 +312180 UBE2A Ubiquitin-conjugating enzyme E2A (RAD6 homolog) ENSG00000077721 UBE2A, RAD6A, MRXSN, MRXS30 X-linked recessive 300860 Mental retardation, X-linked syndromic, Nascimento-type 3 +300298 UPF3B UPF3 regulator of nonsense transcripts, yeast, homolog of, B ENSG00000125351 UPF3B, RENT3B, MRXS14 X-linked recessive 300676 Mental retardation, X-linked, syndromic 14 3 +300951 RNF113A RING finger protein 113A ENSG00000125352 RNF113A, ZNF183, TTD5 mutation identified in 1 TTD5 family X-linked dominant 300953 ?Trichothiodystrophy 5, nonphotosensitive 3 +300078 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kD ENSG00000125356 NDUFA1, MWFE Autosomal recessive, X-linked dominant, Mitochondrial 252010 Mitochondrial complex I deficiency 3 +309060 LAMP2 Lysosome-associated membrane protein-2 ENSG00000005893 LAMP2, LAMPB, LGP110 X-linked dominant 300257 Danon disease 3 +300304 CUL4B Cullin-4B ENSG00000158290 CUL4B, MRXSC, MRXHF2, SFM2, MRXS15 X-linked recessive 300354 Mental retardation, X-linked, syndromic 15 (Cabezas type) 3 +300611 C1GALT1C1 C1GALT1-specific chaperone 1 ENSG00000171155 C1GALT1C1, COSMC, C1GALT2, TNPS 300622 Tn polyagglutination syndrome, somatic 3 +300144 GLUD2 Glutamate dehydrogenase-2 ENSG00000182890 GLUD2 Isolated cases, Multifactorial 168600 Parkinson disease, age of onset, modifier 3 +300979 Xq25 duplication syndrome DUPXq25 Autosomal dominant 300979 Xq25 duplication syndrome 4 +300660 Leukoencephalopathy with metaphyseal chondrodysplasia LKMCD between DXS8093 and DXS1232 X-linked recessive 300660 Leukoencephalopathy with metaphyseal chondrodysplasia 2 +300703 Spinocerebellar ataxia, X-linked 5 SCAX5 between DXS1047 and DXS1227 X-linked recessive 300703 Spinocerebellar ataxia, X-linked 5 2 +300179 X inactivation, familial skewed, 2 SXI2 300179 X inactivation, familial skewed, 2 2 +313850 THAS Thoracoabdominal syndrome THAS, TAS X-linked 313850 Thoracoabdominal syndrome 2 +300779 Corneal dystrophy, endothelial, X-linked XECD between DXS8057 and DXS1047 X-linked dominant 300779 Corneal dystrophy, endothelial, X-linked 2 +305915 GRIA3 Glutamate receptor, ionotropic, AMPA 3 ENSG00000125675 GRIA3, GLUR3, MRX94 X-linked recessive 300699 Mental retardation, X-linked 94 3 +300395 THOC2 THO complex 2 (Tho2, yeast, homolog of) ENSG00000125676 THOC2, THO2, MRX12, MRX35 X-linked recessive 300957 Mental retardation, X-linked 12/35 3 +300079 XIAP Inhibitor of apoptosis, X-linked ENSG00000101966 XIAP, BIRC4, API3, XLP2 300635 Lymphoproliferative syndrome, X-linked, 2 3 +300490 SH2D1A SH2 domain protein 1A ENSG00000183918 SH2D1A, LYP, IMD5, XLP, XLPD1 1cM from DXS42; no recombination with DXS37 X-linked recessive 308240 Lymphoproliferative syndrome, X-linked, 1 3 +300712 Craniofacioskeletal syndrome CFSS X-linked recessive, X-linked dominant 300712 ?Craniofacioskeletal syndrome 2 +302802 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 CMTX3 between DXS984 and DXS8106 X-linked recessive 302802 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 2 +309555 Gustavson mental retardation syndrome (with microcephaly, optic atrophy, deafness) GUST X-linked 309555 Gustavson syndrome 2 +307700 HPT Hypoparathyroidism HPT, HPTX, HYPX ?mutations in SOX3 X-linked 307700 Hypoparathyroidism, X-linked 2 +300076 Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury INDX X-linked dominant 300076 Wood neuroimmunologic syndrome 2 +300372 MRX42 Mental retardation, X-linked nonspecific, 42 MRX42 ?pericentromeric region 300372 Mental retardation, X-linked 42 2 +300155 RP24 Retinitis pigmentosa-24 RP24 300155 Retinitis pigmentosa 24 2 +313350 SHFM2 Split hand/foot malformation, type (ectrodactyly) 2 SHFM2, SHFD2 X-linked 313350 Split hand/foot malformation 2 2 +300535 OCRL Phosphatidylinositol polyphosphate 5-phosphatase (OCRL gene) ENSG00000122126 OCRL, LOCR, OCRL1, NPHL2 X-linked recessive 300555 Dent disease 2 3 +300535 OCRL Phosphatidylinositol polyphosphate 5-phosphatase (OCRL gene) ENSG00000122126 OCRL, LOCR, OCRL1, NPHL2 X-linked recessive 309000 Lowe syndrome 3 +300145 XPNPEP2 X-prolyl aminopeptidase 2 (aminopeptidase P) ENSG00000122121 XPNPEP2, AEACEI 300909 Angioedema induced by ACE inhibitors, susceptibility to 3 +300646 ZDHHC9 Zinc finger DHHC domain-containing protein 9 ENSG00000188706 ZDHHC9, DHHC9, MRXSZ 300799 Mental retardation, X-linked syndromic, Raymond type 3 +300169 AIFM1 Apoptosis-inducing factor, mitochondrion-associated, 1 ENSG00000156709 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5 X-linked recessive 300816 Combined oxidative phosphorylation deficiency 6 3 +300169 AIFM1 Apoptosis-inducing factor, mitochondrion-associated, 1 ENSG00000156709 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5 X-linked recessive 310490 Cowchock syndrome 3 +300169 AIFM1 Apoptosis-inducing factor, mitochondrion-associated, 1 ENSG00000156709 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5 X-linked recessive 300614 Deafness, X-linked 5 3 +300137 IGSF1 Immunoglobulin superfamily, member 1 ENSG00000147255 IGSF1, IGDC1, CHTE X-linked recessive 300888 Hypothyroidism, central, and testicular enlargement 3 +300628 FRMD7 FERM domain-containing 7 ENSG00000165694 FRMD7, NYS1, XIPAN X-linked 310700 Nystagmus 1, congenital, X-linked 3 +300628 FRMD7 FERM domain-containing 7 ENSG00000165694 FRMD7, NYS1, XIPAN X-linked 310700 Nystagmus, infantile periodic alternating, X-linked 3 +300037 GPC3 Glypican 3 ENSG00000147257 GPC3, SDYS, SGBS1 X-linked recessive 312870 Simpson-Golabi-Behmel syndrome, type 1 3 +300037 GPC3 Glypican 3 ENSG00000147257 GPC3, SDYS, SGBS1 194070 Wilms tumor, somatic 3 +300414 PHF6 PHD finger protein 6 ENSG00000156531 PHF6, BFLS X-linked recessive 301900 Borjeson-Forssman-Lehmann syndrome 3 +308000 HPRT1 Hypoxanthine phosphoribosyltransferase 1 ENSG00000165704 HPRT1, HPRT X-linked recessive 300323 HPRT-related gout 3 +308000 HPRT1 Hypoxanthine phosphoribosyltransferase 1 ENSG00000165704 HPRT1, HPRT X-linked recessive 300322 Lesch-Nyhan syndrome 3 +300942 Chromosome Xq26.3 duplication syndrome CXDUPq26.3, DUPXq26.3, XLAG X-linked dominant 300942 Chromosome Xq26.3 duplication syndrome 4 +300833 46XX sex reversal 3 SRXX3 due to deletion/duplication/rearrangement upstream of SOX3 X-linked dominant 300833 46XX sex reversal 3 4 +300231 SLC9A6 Solute carrier family 9 (sodium/hydrogen exchanger), member 6 ENSG00000198689 SLC9A6, NHE6 X-linked dominant 300243 Mental retardation, X-linked syndromic, Christianson type 3 +300163 FHL1 Four-and-a-half LIM domains 1 ENSG00000022267 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B X-linked recessive 300696 Emery-Dreifuss muscular dystrophy 6, X-linked 3 +300163 FHL1 Four-and-a-half LIM domains 1 ENSG00000022267 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B X-linked recessive 300696 Myopathy, X-linked, with postural muscle atrophy 3 +300163 FHL1 Four-and-a-half LIM domains 1 ENSG00000022267 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B X-linked dominant 300717 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 3 +300163 FHL1 Four-and-a-half LIM domains 1 ENSG00000022267 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B X-linked 300718 Reducing body myopathy, X-linked 1b, with late childhood or adult onset 3 +300163 FHL1 Four-and-a-half LIM domains 1 ENSG00000022267 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B X-linked dominant 300695 Scapuloperoneal myopathy, X-linked dominant 3 +300386 CD40LG Tumor necrosis factor ligand superfamily, member 5 ENSG00000102245 TNFSF5, CD40LG, HIGM1, IGM Between DSX144E and DSX300 X-linked recessive 308230 Immunodeficiency, X-linked, with hyper-IgM 3 +300267 ARHGEF6 Rho guanine nucleotide exchange factor-6 ENSG00000129675 ARHGEF6, MRX46, COOL2 X-linked recessive 300436 Mental retardation, X-linked 46 3 +300199 RBMX RNA-binding motif protein, X chromosome ENSG00000147274 RBMX, MRXS11 mutation identified in 1 MRXS11 family X-linked recessive 300238 ?Mental retardation, X-linked, syndromic 11, Shashi type 3 +300393 GPR101 G protein-coupled receptor 101 ENSG00000165370 GPR101, PAGH2 300943 Pituitary adenoma, growth hormone-secreting 2 3 +300265 ZIC3 Zic family member-3 ENSG00000156925 ZIC3, HTX1, HTX, VACTERLX X-linked recessive 306955 Congenital heart defects, nonsyndromic, 1, X-linked 3 +300265 ZIC3 Zic family member-3 ENSG00000156925 ZIC3, HTX1, HTX, VACTERLX X-linked recessive 306955 Heterotaxy, visceral, 1, X-linked 3 +300265 ZIC3 Zic family member-3 ENSG00000156925 ZIC3, HTX1, HTX, VACTERLX X-linked recessive 314390 VACTERL association, X-linked 3 +300536 Bone mineral density QTL 4 BMND4 300536 Bone mineral density QTL 4 2 +300085 COD2 Cone dystrophy-2, X-linked COD2 X-linked 300085 Cone dystrophy, progressive X-linked, 2 2 +300147 HPCX Prostate cancer, hereditary, X-linked 1 HPCX1 between D3S2390 and bG82i1.0 300147 Prostate cancer, hereditary, X-linked 1 2 +307150 Hypertrichosis, congenital generalized HTC2, HCG, CGH, CXINSq27.1, palindrome-mediated interchromosomal insertion at Xq27.1 X-linked dominant 307150 Hypertrichosis, congenital generalized 4 +301590 ANOP1 Microphthalmia, syndromic 4 MCOPS4, ANOP1 X-linked 301590 ?Microphthalmia, syndromic 4 2 +300228 TGCT1 Testicular germ cell tumor 1 TGCT1 300228 Testicular germ cell tumor 2 +300746 F9 Coagulation factor IX (plasma thromboplastic component) ENSG00000101981 F9, HEMB, THPH8 distal to HPRT; proximal part of Xq27 300807 Deep venous thrombosis, protection against 3 +300746 F9 Coagulation factor IX (plasma thromboplastic component) ENSG00000101981 F9, HEMB, THPH8 distal to HPRT; proximal part of Xq27 X-linked recessive 306900 Hemophilia B 3 +300746 F9 Coagulation factor IX (plasma thromboplastic component) ENSG00000101981 F9, HEMB, THPH8 distal to HPRT; proximal part of Xq27 300807 Thrombophilia, X-linked, due to factor IX defect 3 +300746 F9 Coagulation factor IX (plasma thromboplastic component) ENSG00000101981 F9, HEMB, THPH8 distal to HPRT; proximal part of Xq27 Autosomal dominant 122700 Warfarin sensitivity 3 +313430 SOX3 SRY (sex determining region Y)-box 3 ENSG00000134595 SOX3, MRGH P mutant in BFLS 300123 Mental retardation, X-linked, with isolated growth hormone deficiency 3 +313430 SOX3 SRY (sex determining region Y)-box 3 ENSG00000134595 SOX3, MRGH P mutant in BFLS X-linked 312000 Panhypopituitarism, X-linked 3 +300388 Polymicrogyria, bilateral perisylvian BPP, PMGX, CBPS possible genetic heterogeneity X-linked dominant 300388 Polymicrogyria, bilateral perisylvian 2 +300869 Chromosome Xq27.3-q28 duplication syndrome DUPXq27.3q28, CXDUPq27.3q28 X-linked recessive 300869 Chromosome Xq27.3-q28 duplication syndrome 4 +300509 DYX9 Dyslexia, susceptibility to, 9 DYX9 max lod at DXS8043 300509 Dyslexia, susceptibility to, 9 2 +309550 FMR1 FMR1 gene ENSG00000102081 FMR1, FRAXA, POF1 8-8.7Mb from telomere X-linked dominant 300624 Fragile X syndrome 3 +309550 FMR1 FMR1 gene ENSG00000102081 FMR1, FRAXA, POF1 8-8.7Mb from telomere X-linked dominant 300623 Fragile X tremor/ataxia syndrome 3 +309550 FMR1 FMR1 gene ENSG00000102081 FMR1, FRAXA, POF1 8-8.7Mb from telomere X-linked 311360 Premature ovarian failure 1 3 +300843 Bornholm eye disease BED linked to F8 X-linked recessive 300843 Bornholm eye disease 2 +300815 Chromosome Xq28 duplication syndrome DUPXq28, CXq28 300815 Chromosome Xq28 duplication syndrome 4 +306995 Homosexuality, male HMS1, GAY1 X-linked 306995 ?Homosexuality, male 2 +309200 MAFD2 Major affective disorder 2 MAFD2, MDX linkage to G6PD,CB in non-Ashkenazi Jews X-linked dominant 309200 ?Major affective disorder 2 2 +309620 MRSD Mental retardation-skeletal dysplasia MRSD, CHRS X-linked 309620 Mental retardation-skeletal dysplasia 2 +300261 Armfield X-linked mental retardation syndrome MRXSA X-linked recessive 300261 Mental retardation syndrome, X-linked, Armfield type 2 +300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism and facial dysmorphism MYMY4, CXDELq38 contiguous gene deletion syndrome (3.4kb) X-linked recessive 300845 Moyamoya disease 4 4 +310460 MYP1 Myopia 1, X-linked MYP1 X-linked recessive 310460 Myopia-1 2 +300605 RP34 Retinitis pigmentosa 34 RP34 300605 Retinitis pigmentosa 34 2 +300809 Systemic lupus erythematosus, susceptibility to, 15 SLEB15 associated with rs17435 300809 Systemic lupus erthematosus, susceptibility to, 15 2 +314300 TKCR Torticollis, keloids, cryptorchidism and renal dysplasia TKCR, TKC distal to G6PD X-linked 314300 Goeminne TKCR syndrome 2 +300806 AFF2 AF4/FMR2 family, member 2 (fragile site, X-linked, E) ENSG00000155966 AFF2, FMR2, FRAXE, MRX2 X-linked recessive 309548 Mental retardation, X-linked, FRAXE type 3 +300823 IDS Iduronate 2-sulfatase (Hunter syndrome) ENSG00000010404 IDS, MPS2, SIDS telomeric IDS2 source of inversion in IDS X-linked recessive 309900 Mucopolysaccharidosis II 3 +300120 MAMLD1 Mastermind-like domain containing 1 ENSG00000013619 MAMLD1, CXorf6, F18, HYSP2 near MTM1 in microdeletion X-linked recessive 300758 Hypospadias 2, X-linked 3 +300415 MTM1 Myotubularin ENSG00000171100 MTM1, MTMX close to F8 X-linked recessive 310400 Myotubular myopathy, X-linked 3 +300193 HMGB3 High-mobility group box 3 (high mobility group protein 4) ENSG00000029993 HMGB3, HMG4, HMG2A, MCOPS13 mutation identified in 1 MCOPS13 family X-linked 300915 ?Microphthalmia, syndromic 13 3 +300913 VMA21 Vma21, S. cerevisiae, homolog of ENSG00000160131 VMA21, XMEA X-linked recessive 310440 Myopathy, X-linked, with excessive autophagy 3 +300275 NSDHL NAD(P)H steroid dehydrogenase-like protein ENSG00000147383 NSDHL X-linked dominant 308050 CHILD syndrome 3 +300275 NSDHL NAD(P)H steroid dehydrogenase-like protein ENSG00000147383 NSDHL X-linked recessive 300831 CK syndrome 3 +301870 BGN Biglycan ENSG00000182492 BGN, SEMDX proximal Xq28 X-linked recessive 300106 Spondyloepimetaphyseal dysplasia, X-linked 3 +300014 ATP2B3 ATPase, Ca++ transporting, plasma membrane, 3 ENSG00000067842 ATP2B3, PMCA3, SCAX1 mutation identified in 1 family X-linked recessive 302500 ?Spinocerebellar ataxia, X-linked 1 3 +300708 FAM58A Family with sequence similarity 58, member A ENSG00000262919 FAM58A, STAR X-linked dominant 300707 STAR syndrome 3 +300036 SLC6A8 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ENSG00000130821 SLC6A8, CRTR, CCDS1 distal to G6PD X-linked recessive 300352 Cerebral creatine deficiency syndrome 1 3 +300398 BCAP31 B-cell receptor-associated protein 31 ENSG00000185825 BCAP31, BAP31, DXS1357E, DDCH X-linked recessive 300475 Deafness, dystonia, and cerebral hypomyelination 3 +300371 ABCD1 ATP-binding cassette, subfamily D, member 1 ENSG00000101986 ABCD1, ALD, AMN about 650kb from GCP/RCP X-linked recessive 300100 Adrenoleukodystrophy 3 +300371 ABCD1 ATP-binding cassette, subfamily D, member 1 ENSG00000101986 ABCD1, ALD, AMN about 650kb from GCP/RCP X-linked recessive 300100 Adrenomyeloneuropathy, adult 3 +300090 SSR4 Signal sequence receptor, delta ENSG00000180879 SSR4, TRAPD, CDG1Y mutation identified in 1 CDG1Y patient X-linked recessive 300934 ?Congenital disorder of glycosylation, type Iy 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked recessive 303350 CRASH syndrome 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked 304100 Corpus callosum, partial agenesis of 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked recessive 307000 Hydrocephalus due to aqueductal stenosis 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked recessive 307000 Hydrocephalus with Hirschsprung disease 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked recessive 307000 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 3 +308840 L1CAM L1 cell adhesion molecule ENSG00000198910 L1CAM, CAML1, HSAS1, MASA, SPG1 between RCP/GCP cluster and G6PD X-linked recessive 303350 MASA syndrome 3 +300538 AVPR2 Arginine vasopressin receptor-2 ENSG00000126895 AVPR2, DIR, DI1, ADHR X-linked recessive 304800 Diabetes insipidus, nephrogenic 3 +300538 AVPR2 Arginine vasopressin receptor-2 ENSG00000126895 AVPR2, DIR, DI1, ADHR X-linked recessive 300539 Nephrogenic syndrome of inappropriate antidiuresis 3 +300013 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ENSG00000102030 NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1 mutation identified in 1 MCOPS1 family X-linked 309800 ?Microphthalmia, syndromic 1 3 +300013 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ENSG00000102030 NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1 mutation identified in 1 MCOPS1 family X-linked recessive, X-linked dominant 300855 Ogden syndrome 3 +300019 HCFC1 Host cell factor C1 (VP16-accessory protein) ENSG00000172534 HCFC1, HCF1, MRX3 50kb distal to V2R X-linked recessive 309541 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP Isolated cases, X-linked, Multifactorial 300496 Autism susceptibility, X-linked 3 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked recessive 300673 Encephalopathy, neonatal severe 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked recessive 300260 Mental retardation, X-linked syndromic, Lubs type 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked recessive 300055 Mental retardation, X-linked, syndromic 13 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked dominant 312750 Rett syndrome 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked dominant 312750 Rett syndrome, atypical 3 +300005 MECP2 Methyl-CpG-binding protein-2 ENSG00000169057 MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 70kb centromeric of RCP/GCP X-linked dominant 312750 Rett syndrome, preserved speech variant 3 +300822 OPN1LW Red cone pigment (opsin 1, long-wave-sensitive) ENSG00000102076 OPN1LW, RCP, CBP, CBBM 5' to CBD X-linked recessive 303700 Blue cone monochromacy 3 +300822 OPN1LW Red cone pigment (opsin 1, long-wave-sensitive) ENSG00000102076 OPN1LW, RCP, CBP, CBBM 5' to CBD X-linked 303900 Colorblindness, protan 3 +300821 OPN1MW Green cone pigment (opsin 1, medium-wave-sensitive) ENSG00000268221 OPN1MW, GCP, CBD, CBBM linked to G6PD; multiple genes X-linked recessive 303700 Blue cone monochromacy 3 +300821 OPN1MW Green cone pigment (opsin 1, medium-wave-sensitive) ENSG00000268221 OPN1MW, GCP, CBD, CBBM linked to G6PD; multiple genes X-linked 303800 Colorblindness, deutan 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked recessive 314400 Cardiac valvular dysplasia, X-linked 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked recessive 300048 Congenital short bowel syndrome 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS 300321 FG syndrome 2 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked recessive 305620 Frontometaphyseal dysplasia 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked dominant 300049 Heterotopia, periventricular 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked recessive 300048 Intestinal pseudoobstruction, neuronal 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked dominant 309350 Melnick-Needles syndrome 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked dominant 311300 Otopalatodigital syndrome, type I 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS X-linked dominant 304120 Otopalatodigital syndrome, type II 3 +300017 FLNA Filamin A, alpha (actin-binding protein-280) ENSG00000196924 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS 300244 Terminal osseous dysplasia 3 +300384 EMD Emerin ENSG00000102119 EMD, EDMD, STA in distal Xq28 X-linked recessive 310300 Emery-Dreifuss muscular dystrophy 1, X-linked 3 +312173 RPL10 Ribosomal protein L10 ENSG00000147403 RPL10, DXS648, QM, AUTSX5 300847 Autism, susceptibility to, X-linked 5 3 +300394 TAZ Tafazzin ENSG00000102125 TAZ, EFE2, BTHS, CMD3A, LVNCX X-linked recessive 302060 Barth syndrome 3 +300197 ATP6AP1 ATPase, H+ transporting, lysosomal, accessory protein 1 ENSG00000071553 ATP6AP1, ATP6IP1, ATP6S1, VATPS1 X-linked recessive 300972 Immunodeficiency 47 3 +300104 GDI1 GDP dissociation inhibitor 1 ENSG00000203879 GDI1, RABGD1A, MRX41, MRX48 X-linked dominant 300849 Mental retardation, X-linked 41 3 +305900 G6PD Glucose-6-phosphate dehydrogenase ENSG00000160211 G6PD, G6PD1 Autosomal dominant 134700 Favism 3 +305900 G6PD Glucose-6-phosphate dehydrogenase ENSG00000160211 G6PD, G6PD1 300908 Hemolytic anemia due to G6PD deficiency 3 +305900 G6PD Glucose-6-phosphate dehydrogenase ENSG00000160211 G6PD, G6PD1 611162 Resistance to malaria due to G6PD deficiency 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 300291 Ectodermal dysplasia, hypohidrotic, with immune deficiency 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 300301 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 X-linked recessive 300636 Immunodeficiency 33 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 300584 Immunodeficiency, isolated 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 X-linked dominant 308300 Incontinentia pigmenti 3 +300248 IKBKG Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma (NF-kappa-B essential modulator) ENSG00000269335 IKBKG, NEMO, FIP3, IP, IPD2, AMCBX1, IMD33 300640 Invasive pneumococcal disease, recurrent isolated, 2 3 +300126 DKC1 Dyskerin ENSG00000130826 DKC1, DKCX X-linked recessive 305000 Dyskeratosis congenita, X-linked 3 +300841 F8 Coagulation factor VIII, procoagulant component ENSG00000185010 F8, F8C, HEMA cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere X-linked recessive 306700 Hemophilia A 3 +300774 RAB39B Ras-associated protein RAB39B ENSG00000155961 RAB39B, MRX72, WSMN mutation identified in 1 WSMN family X-linked recessive 300271 Mental retardation, X-linked 72 3 +300774 RAB39B Ras-associated protein RAB39B ENSG00000155961 RAB39B, MRX72, WSMN mutation identified in 1 WSMN family X-linked recessive 311510 ?Waisman syndrome 3 +300138 CLIC2 Chloride intracellular channel 2 ENSG00000155962 CLIC2, XAP121, MRXS32 mutation identified in 1 MRXS32 family X-linked recessive 300886 ?Mental retardation, X-linked, syndromic 32 3 +300777 TMLHE Episilon-trimethyllysine hydroxylase ENSG00000185973 TMLHE, BBOX2, TMLH, TMLHED, AUTSX6 X-linked recessive 300872 Autism, susceptibility to, X-linked 6 3 +300864 Cerebral-cerebellar-coloboma syndrome, X-linked CCCSX X-linked recessive 300864 Cerebral-cerebellar-coloboma syndrome, X-linked 2 +300471 Cubitus valgus with mental retardation and unusual facies CVMRF X-linked recessive 300471 Cubitus valgus with mental retardation and unusual facies 2 +300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities DFCTRPS X-linked recessive 300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 2 +300345 Microphthalmia, isolated, with coloboma 1 MCOPCB1 300345 Microphthalmia with coloboma 1 2 +300716 Mental retardation, X-linked 95 MRX95 X-linked dominant 300716 Mental retardation, X-linked 95 2 +300612 Brooks-Wisniewski-Brown syndrome MRXSBWB X-linked recessive 300612 Brooks-Wisniewski-Brown syndrome 2 +300519 Mental retardation, X-linked, syndromic, Martin-Probst type MRXSMP X-linked recessive 300519 Mental retardation, X-linked, syndromic, Martin-Probst type 2 +300331 Thrombocythemia, X-linked THCYTX X-linked recessive 300331 Thrombocythemia, X-linked 2 +400020 SHOX Short stature homeo box, Y-linked ENSG00000185960 SHOXY pseudoautosomal Autosomal recessive 249700 Langer mesomelic dysplasia 3 +400020 SHOX Short stature homeo box, Y-linked ENSG00000185960 SHOXY pseudoautosomal Autosomal dominant 127300 Leri-Weill dyschondrosteosis 3 +400020 SHOX Short stature homeo box, Y-linked ENSG00000185960 SHOXY pseudoautosomal 300582 Short stature, idiopathic familial 3 +480000 SRY Sex-determining region Y (testis determining factor) ENSG00000184895 SRY, TDF, TDY, SRXX1, SRXY1 400045 46XX sex reversal 1 3 +480000 SRY Sex-determining region Y (testis determining factor) ENSG00000184895 SRY, TDF, TDY, SRXX1, SRXY1 400044 46XY sex reversal 1 3 +400042 Chromosome Yq11 interstitial deletion syndrome DELYq11, CYDELq11, SPGFY1 contiguous gene deletion syndrome 400042 Spermatogenic failure, Y-linked, 1 4 +425500 Hairy ears, Y-linked HEY Y-linked 425500 ?Hairy ears, Y-linked 2 +400005 USP9Y Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets related, Y-linked) ENSG00000114374 USP9Y, DFFRY, SPGFY2 Y-linked 415000 Spermatogenic failure, Y-linked, 2 3 +400003 DAZ1 Deleted in azoospermia ENSG00000188120 DAZ ?same as AZF ?Sertoli-cell-only syndrome 1 +400043 DFNY1 Deafness, Y-linked 1 DFNY1 Deafness, Y-linked 1 1 +400004 Retinitis pigmentosa, Y-linked RPY Y-linked 400004 Retinitis pigmentosa, Y-linked 2 diff --git a/src/parse_omim.py b/src/parse_omim_from_api.py similarity index 90% rename from src/parse_omim.py rename to src/parse_omim_from_api.py index 5ef6609..8578c8b 100644 --- a/src/parse_omim.py +++ b/src/parse_omim_from_api.py @@ -42,7 +42,7 @@ def main(args): # set parameters for HTTP request request_data = {} - request_data['apiKey'] = 'tjqbNLkIQOOiXFd2ctwLGw' + request_data['apiKey'] = args.omim_api_key request_data['format'] = 'json' request_data['chromosome'] = chromosomes.next() request_data['limit'] = 100 @@ -61,6 +61,7 @@ def main(args): t = get_gene_thesaurus(args.hgnc) sys.stdout.write("\rOn chromosome %s ..." % request_data['chromosome']) sys.stdout.flush() + counter = defaultdict(int) while True: url = 'http://api.omim.org/api/geneMap' # add parameters to url string @@ -93,6 +94,7 @@ def main(args): # write response data for g in geneMapList: + counter["input_lines"] += 1 line = ['']*len(header.keys()) geneMap = g['geneMap'] genes = re.sub(' ', '', geneMap['geneSymbols']).split(',') @@ -120,6 +122,7 @@ def main(args): line[header['comments']] = 'NA' if 'phenotypeMapList' in geneMap: + counter["input_lines_with_phenotypes"] += 1 phenotypeMapList = geneMap['phenotypeMapList'] for p in phenotypeMapList: phenotypeMap = p['phenotypeMap'] @@ -135,6 +138,7 @@ def main(args): line = map(str, line) o.write('\t'.join(line) + '\n') + counter["output_lines"] += 1 elif args.use: continue else: @@ -147,11 +151,18 @@ def main(args): request_data['chromosomeSort'] += 100 o.close() - + + for k in ['input_lines', 'input_lines_with_phenotypes', 'output_lines']: + print("%10s %s" % (counter[k], k)) if __name__ == '__main__': - parser = argparse.ArgumentParser() + try: + import configargparse + parser = configargparse.ArgumentParser(args_for_setting_config_path=["-c", "--config-file"]) + except ImportError: + parser = argparse.ArgumentParser() parser.add_argument('--hgnc', dest='hgnc', help='Path to gene thesaurus file.', required=True) + parser.add_argument('-k', '--omim-api-key', required=True) parser.add_argument('-o', '--output', dest='output', default=sys.stdout) parser.add_argument('--chrom', help='Only get data for given chromosome.') parser.add_argument('--use', action='store_true', help='Only output entries with a gene AND associated phenotype AND WHERE the gene can be matched to an HGNC-approved symbol.') diff --git a/src/parse_omim_from_downloads.py b/src/parse_omim_from_downloads.py new file mode 100644 index 0000000..80ce3c9 --- /dev/null +++ b/src/parse_omim_from_downloads.py @@ -0,0 +1,166 @@ +""" +This script retrieves OMIM data from omim.org and parses/converts relevant fields into a tsv table. + +================== +OMIM DATA SOURCES: +================== +OMIM provides data through an API (https://omim.org/help/api) + as downloadable files (https://omim.org/downloads/) + +API endpoints: +------------- +http://api.omim.org/api/geneMap?chromosome=1 - which returns a list of 'geneMap' objects - each representing a mimNumber, geneSymbols, geneName, comments, geneInheritance, and a phenotypeMapList which contains one or more mimNumber, phenotypeMimNumber, phenotype description, and phenotypeInheritance + +http://api.omim.org/api/entry?mimNumber=612367&format=json&include=all - which returns detailed info on a particular mim id + +Files: +----- +mim2gene.txt - contains basic info on mim numbers and their relationships. + +For example: + 100500 moved/removed + 100600 phenotype + 100640 gene 216 ALDH1A1 ENSG00000165092,ENST00000297785 + 100650 gene/phenotype 217 ALDH2 ENSG00000111275,ENST00000261733 + +genemap2.txt - contains chrom, gene_start, gene_end, cyto_location, mim_number, gene_symbols, gene_name, approved_symbol, entrez_gene_id, ensembl_gene_id, comments, phenotypes, mouse_gene_id - where phenotypes contains 1 or more phenotypes in the form { description }, phenotype_mim_number (phenotype_mapping_key), inheritance_mode; + +For example: + + # Chromosome Genomic Position Start Genomic Position End Cyto Location Computed Cyto Location Mim Number Gene Symbols Gene Name Approved Symbol Entrez Gene ID Ensembl Gene ID Comments Phenotypes Mouse Gene Symbol/ID + chr1 2019328 2030752 1p36.33 137163 GABRD, GEFSP5, EIG10, EJM7 Gamma-aminobutyric acid (GABA) A receptor, delta GABRD 2563 ENSG00000187730 {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, 10}, 613060 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3), Autosomal dominant Gabrd (MGI:95622) + +================ +OUTPUT TSV TABLE +================ + +The geneMap API endpoint provides only gene symbols and not Ensembl gene ids. +genemap2.txt provides both gene symbols and Ensembl gene ids for most entries. + +The output table contains 1 row per gene / phenotype pair. +""" + +import argparse +from collections import defaultdict +import os +import re +import urllib + + +def make_omim_table(output_dir, output_filename="omim.tsv", omim_key=None, save_genemap2_file=True): + """Downloads the latest 'genemap2.txt' file from http://data.omim.org/downloads/, parses it, and writes out a tab-delimitted table with + the following columns: + + mim_number, approved_symbol, gene_name, ensembl_gene_id, gene_symbols, comments, inheritance, phenotype_mim_number, phenotype_description, phenotype_map_method + + output_dir: output directory path + output_filename: output filename + omim_key: string omim key needed to access http://data.omim.org/downloads//genemap2.txt + save_genemap2_file: whether to save a copy of the raw data retrieved from omim.org into a 'genemap2.txt' file in the output_dir + """ + columns_of_interest = ['mim_number', 'approved_symbol', 'gene_name', 'ensembl_gene_id', 'gene_symbols', 'comments', 'phenotypes'] + + output_file_header = [c for c in columns_of_interest if c != 'phenotypes'] # exclude unparsed Phenotypes column + output_file_header += ['inheritance', 'phenotype_mim_number', 'phenotype_description', 'phenotype_map_method'] # add columns for parsed phenotype values + + outf = open(os.path.join(output_dir, output_filename), "w") + outf.write('\t'.join(output_file_header) + '\n') + + header_fields = None + counter = defaultdict(int) + if save_genemap2_file: + genemap2_file = open(os.path.join(output_dir, "genemap2.txt"), "w") + url = "http://data.omim.org/downloads/%(omim_key)s/genemap2.txt" % locals() + print("Parsing " + url) + for line in urllib.urlopen(url): + if save_genemap2_file: + genemap2_file.write(line) + + line = line.strip('\n') + if not line or line.startswith("#"): + # check header is as expeted + if line.startswith("# Chrom") and header_fields is None: + header_fields = line.split('\t') + header_fields = [c.lower().replace(' ', '_') for c in header_fields] + + # check for any missing columns + missing_columns = [c for c in columns_of_interest if c not in header_fields] + if missing_columns: + raise Exception("header line: %(header_fields)s\nis missing columns: %(missing_columns)s" % locals()) + + continue + + if header_fields is None: + raise Exception("header not found in %(url)s - are the url and omim key working?" % locals()) + + counter["input lines"] += 1 + + row_fields = line.strip('\n').split('\t') + assert len(row_fields) == len(header_fields), "unexpected number of fields: %s" % str(row_fields) + + row_dict = dict(zip(header_fields, row_fields)) + phenotypes = row_dict['phenotypes'].strip() + + d = None + for phenotype_match in re.finditer("[\[{ ]*(.+?)[ }\]]*(, (\d{4,}))? \(([1-4])\)(, ([^;]+))?;?", phenotypes): + # Phenotypes example: "Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant" + d = {} + d["phenotype_description"] = phenotype_match.group(1) + d["phenotype_mim_number"] = phenotype_match.group(3) or "" + d["phenotype_map_method"] = phenotype_match.group(4) + d["inheritance"] = phenotype_match.group(6) or "" + + # basic checks + assert len(d["phenotype_description"].strip()) > 0, "unexpected empty phenotype description: %(line)s" % locals() + assert int(d["phenotype_map_method"]) > 0 and int(d["phenotype_map_method"]) <= 4, "unexpected value (%s) for phenotype_map_method in phenotypes: %s" % ( + d["phenotype_map_method"], phenotypes) + + d.update(row_dict) + outf.write('\t'.join(d[k] for k in output_file_header) + '\n') + counter["output lines"] += 1 + counter["output lines with ENSG id"] += 1 if row_dict['ensembl_gene_id'] else 0 + + if len(phenotypes) > 0: + counter["input lines with phenotype(s)"] += 1 + counter["input lines with phenotype(s) and ENSG id"] += 1 if row_dict['ensembl_gene_id'] else 0 + if d is None: + raise Exception("0 phenotypes parsed from: %s" % str(phenotypes)) + + print("Finished processing:") + for k in ['input lines', 'input lines with phenotype(s)', 'input lines with phenotype(s) and ENSG id', 'output lines', 'output lines with ENSG id']: + print(" %10s %s" % (counter[k], k)) + +if __name__ == "__main__": + try: + import configargparse + p = configargparse.ArgumentParser(args_for_setting_config_path=["-c", "--config-file"]) + except ImportError: + p = argparse.ArgumentParser() + + p.add_argument('-d', '--output-dir', default='.', help='output directory') + p.add_argument('-o', '--output-filename', default='omim.tsv', help='output filename') + p.add_argument('-k', '--omim-key', required=True) + p.add_argument('-g', '--save-genemap2-file', action='store_true', help='whether to save a copy of the raw data ' + 'retrieved from omim.org in a \'genemap2.txt\' file in the output_dir') + args = p.parse_args() + + make_omim_table(args.output_dir, + args.output_filename, + omim_key=args.omim_key, + save_genemap2_file=args.save_genemap2_file) + + + +""" +At the bottom of genemap2.txt there is: + +# Phenotype Mapping Method - Appears in parentheses after a disorder : +# -------------------------------------------------------------------- +# 1 - the disorder is placed on the map based on its association with +# a gene, but the underlying defect is not known. +# 2 - the disorder has been placed on the map by linkage; no mutation has +# been found. +# 3 - the molecular basis for the disorder is known; a mutation has been +# found in the gene. +# 4 - a contiguous gene deletion or duplication syndrome, multiple genes +# are deleted or duplicated causing the phenotype. +""" diff --git a/data/use_omim_table.txt b/use_omim_table.txt similarity index 96% rename from data/use_omim_table.txt rename to use_omim_table.txt index 45f7ed4..dec987f 100644 --- a/data/use_omim_table.txt +++ b/use_omim_table.txt @@ -9,8 +9,8 @@ SCAR4|SCASI SCASI|SCASI SCASI Spinocerebellar ataxia, autosomal recessive 4 Auto ISG15|G1P2|IFI15|IMD38 ISG15|ISG15|ISG15|NA ISG15 Immunodeficiency 38 Autosomal recessive 147571 616126 1 NA AGRN|CMS8 AGRN|NA AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects Autosomal recessive 103320 615120 1 NA TNFRSF4|TXGP1L|OX40|ACT35|IMD16 TNFRSF4|TNFRSF4|TNFRSF4|TNFRSF4|NA TNFRSF4 ?Immunodeficiency 16 Autosomal recessive 600315 615593 1 mutation identified in 1 IMD16 family -B3GALT6|SEMDJL1|EDSP2 B3GALT6|NA|NA B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Autosomal recessive 615291 271640 1 NA B3GALT6|SEMDJL1|EDSP2 B3GALT6|NA|NA B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2 Autosomal recessive 615291 615349 1 NA +B3GALT6|SEMDJL1|EDSP2 B3GALT6|NA|NA B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Autosomal recessive 615291 271640 1 NA DVL1|DRS2 DVL1|NA DVL1 Robinow syndrome, autosomal dominant 2 Autosomal dominant 601365 616331 1 NA TMEM240|C1orf70|SCA21 TMEM240|TMEM240|NA TMEM240 Spinocerebellar ataxia 21 Autosomal dominant 616101 607454 1 NA GNB1|MRD42 GNB1|NA GNB1 Mental retardation, autosomal dominant 42 Autosomal dominant 139380 616973 1 NA @@ -20,10 +20,10 @@ GABRD|GEFSP5|EIG10|EJM7 GABRD|NA|NA|NA GABRD Epilepsy, idiopathic generalized, 1 GABRD|GEFSP5|EIG10|EJM7 GABRD|NA|NA|NA GABRD Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to Autosomal dominant 137163 613060 1 NA SKI|SGS SKI|FBN1 SKI,FBN1 Shprintzen-Goldberg syndrome Autosomal dominant 164780 182212 1 formerly mapped to 1q22-q24 DYT13 DYT13 DYT13 Dystonia 13, torsion Autosomal dominant 607671 607671 1 NA -PEX10|NALD|PBD6A|PBD6B PEX10|NA|NA|NA PEX10 Peroxisome biogenesis disorder 6A (Zellweger) None 602859 614870 1 NA PEX10|NALD|PBD6A|PBD6B PEX10|NA|NA|NA PEX10 Peroxisome biogenesis disorder 6B Autosomal recessive 602859 614871 1 NA -PRDM16|MEL1|LVNC8|CMD1LL PRDM16|PRDM16|NA|NA PRDM16 Cardiomyopathy, dilated, 1LL Autosomal dominant 605557 615373 1 NA +PEX10|NALD|PBD6A|PBD6B PEX10|NA|NA|NA PEX10 Peroxisome biogenesis disorder 6A (Zellweger) Autosomal recessive 602859 614870 1 NA PRDM16|MEL1|LVNC8|CMD1LL PRDM16|PRDM16|NA|NA PRDM16 Left ventricular noncompaction 8 Autosomal dominant 605557 615373 1 NA +PRDM16|MEL1|LVNC8|CMD1LL PRDM16|PRDM16|NA|NA PRDM16 Cardiomyopathy, dilated, 1LL Autosomal dominant 605557 615373 1 NA TP73 TP73 TP73 ?Neuroblastoma None 601990 NA 1 imprinted SMIM1|VEL SMIM1|NA SMIM1 Blood group, Vel system Autosomal recessive 615242 615264 1 NA CEP104|GLYBP|KIAA0562|JBTS25 CEP104|NA|CEP104|NA CEP104 Joubert syndrome 25 Autosomal recessive 616690 616781 1 NA @@ -31,9 +31,9 @@ DFNB96 DFNB96 DFNB96 Deafness, autosomal recessive 96 Autosomal recessive 614414 NPHP4|SLSN4 NPHP4|NPHP4 NPHP4 Senior-Loken syndrome 4 Autosomal recessive 607215 606996 1 NA NPHP4|SLSN4 NPHP4|NPHP4 NPHP4 Nephronophthisis 4 Autosomal recessive 607215 606966 1 NA ESPN ESPN ESPN Deafness, neurosensory, without vestibular involvement, autosomal dominant None 606351 NA 1 NA -ESPN ESPN ESPN Deafness, autosomal recessive 36 None 606351 609006 1 NA -PLEKHG5|KIAA0720|DSMA4|CMTRIC PLEKHG5|PLEKHG5|NA|NA PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C Autosomal recessive 611101 615376 1 NA +ESPN ESPN ESPN Deafness, autosomal recessive 36 Autosomal recessive 606351 609006 1 NA PLEKHG5|KIAA0720|DSMA4|CMTRIC PLEKHG5|PLEKHG5|NA|NA PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4 Autosomal recessive 611101 611067 1 NA +PLEKHG5|KIAA0720|DSMA4|CMTRIC PLEKHG5|PLEKHG5|NA|NA PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C Autosomal recessive 611101 615376 1 NA CAMTA1|KIAA0833|CANPMR CAMTA1|CAMTA1|NA CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation Autosomal dominant 611501 614756 1 NA GLC3B GLC3B GLC3B Glaucoma 3, primary infantile, B Autosomal recessive 600975 600975 1 NA PER3|FASPS3 PER3|NA PER3 ?Advanced sleep phase syndrome, familial, 3 Autosomal dominant 603427 616882 1 mutation identified in 1 FASPS3 family @@ -43,39 +43,40 @@ ENO1|PPH|MPB1 ENO1|ENO1|ENO1 ENO1 Enolase deficiency None 172430 NA 1 NA H6PD|GDH|G6PDH|CORTRD1 H6PD|CRYL1,GLUD1,H6PD|NA|NA CRYL1,GLUD1,H6PD Cortisone reductase deficiency 1 Autosomal recessive 138090 604931 1 digenic triallelic mutations with HSD11B1 PIK3CD|APDS|IMD14 PIK3CD|NA|NA PIK3CD Immunodeficiency 14 Autosomal dominant 602839 615513 1 NA NMNAT1|NMNAT|PNAT1|LCA9 NMNAT1|NMNAT1|NMNAT1|NMNAT1 NMNAT1 Leber congenital amaurosis 9 Autosomal recessive 608700 608553 1 NA -KIF1B|CMT2A|CMT2A1|NBLST1 KIF1B|KIF1B|NA|NA KIF1B Neuroblastoma, susceptibility to, 1 Autosomal dominant; Isolated cases 605995 256700 1 mutation identified in 1 CMT2A1 family KIF1B|CMT2A|CMT2A1|NBLST1 KIF1B|KIF1B|NA|NA KIF1B Pheochromocytoma Autosomal dominant 605995 171300 1 mutation identified in 1 CMT2A1 family KIF1B|CMT2A|CMT2A1|NBLST1 KIF1B|KIF1B|NA|NA KIF1B ?Charcot-Marie-Tooth disease, type 2A1 Autosomal dominant 605995 118210 1 mutation identified in 1 CMT2A1 family -PEX14|PBD13A PEX14|NA PEX14 Peroxisome biogenesis disorder 13A (Zellweger) None 601791 614887 1 NA +KIF1B|CMT2A|CMT2A1|NBLST1 KIF1B|KIF1B|NA|NA KIF1B Neuroblastoma, susceptibility to, 1 Autosomal dominant; Isolated cases 605995 256700 1 mutation identified in 1 CMT2A1 family +PEX14|PBD13A PEX14|NA PEX14 Peroxisome biogenesis disorder 13A (Zellweger) Autosomal recessive 601791 614887 1 NA TARDBP|TDP43|ALS10 TARDBP|NA|TARDBP TARDBP Frontotemporal lobar degeneration, TARDBP-related Autosomal dominant 605078 612069 1 pseudogenes on 2, 6, 8, 13, 20 TARDBP|TDP43|ALS10 TARDBP|NA|TARDBP TARDBP Amyotrophic lateral sclerosis 10, with or without FTD Autosomal dominant 605078 612069 1 pseudogenes on 2, 6, 8, 13, 20 MASP2 MASP2 MASP2 MASP2 deficiency Autosomal recessive 605102 613791 1 NA -MTOR|FRAP1|SKS MTOR|MTOR|NA MTOR Smith-Kingsmore syndrome None 601231 616638 1 NA +MTOR|FRAP1|SKS MTOR|MTOR|NA MTOR Smith-Kingsmore syndrome Autosomal dominant 601231 616638 1 NA UBIAD1|TERE1|SCCD UBIAD1|UBIAD1|UBIAD1 UBIAD1 Corneal dystrophy, Schnyder type Autosomal dominant 611632 121800 1 NA +MTHFR MTHFR MTHFR Thromboembolism, susceptibility to Autosomal dominant 607093 188050 1 NA +MTHFR MTHFR MTHFR Schizophrenia, susceptibility to Autosomal dominant 607093 181500 1 NA MTHFR MTHFR MTHFR Neural tube defects, susceptibility to Autosomal recessive 607093 601634 1 NA MTHFR MTHFR MTHFR Homocystinuria due to MTHFR deficiency Autosomal recessive 607093 236250 1 NA MTHFR MTHFR MTHFR Vascular disease, susceptibility to None 607093 NA 1 NA -MTHFR MTHFR MTHFR Thromboembolism, susceptibility to Autosomal dominant 607093 188050 1 NA -MTHFR MTHFR MTHFR Schizophrenia, susceptibility to Autosomal dominant 607093 181500 1 NA NPPA|PND|ANP|ATFB6|ATRST2 NPPA|NPPA|NPPA|NA|NA NPPA Atrial standstill 2 Autosomal recessive 108780 615745 1 NA NPPA|PND|ANP|ATFB6|ATRST2 NPPA|NPPA|NPPA|NA|NA NPPA Atrial fibrillation, familial, 6 Autosomal dominant 108780 612201 1 NA PLOD1|LH1|LLH|EDS6 PLOD1|PLOD1|PLOD1|NA PLOD1 Ehlers-Danlos syndrome, type VI Autosomal recessive 153454 225400 1 NA -MFN2|KIAA0214|CMT2A2|HMSN6A MFN2|MFN2|MFN2|NA MFN2 Hereditary motor and sensory neuropathy VIA Autosomal dominant 608507 601152 1 NA -MFN2|KIAA0214|CMT2A2|HMSN6A MFN2|MFN2|MFN2|NA MFN2 Charcot-Marie-Tooth disease, type 2A2 Autosomal dominant; Autosomal recessive 608507 609260 1 NA +MFN2|KIAA0214|CMT2A2A|HMSN6A|CMT2A2B MFN2|MFN2|NA|NA|NA MFN2 Hereditary motor and sensory neuropathy VIA Autosomal dominant 608507 601152 1 NA +MFN2|KIAA0214|CMT2A2A|HMSN6A|CMT2A2B MFN2|MFN2|NA|NA|NA MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2B None 608507 617087 1 NA +MFN2|KIAA0214|CMT2A2A|HMSN6A|CMT2A2B MFN2|MFN2|NA|NA|NA MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A Autosomal dominant 608507 609260 1 NA GBD2 GBD2 GBD2 Gallbladder disease 2 None 609918 609918 1 NA CTRC|CLCR CTRC|CTRC CTRC Pancreatitis, chronic, susceptibility to Autosomal dominant 601405 167800 1 NA ANIB3 ANIB3 ANIB3 Aneurysm, intracranial berry, 3 Autosomal dominant 609122 609122 1 NA CLCNKA CLCNKA CLCNKA Bartter syndrome, type 4b, digenic Digenic recessive 602024 613090 1 11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB -CLCNKB CLCNKB CLCNKB Bartter syndrome, type 4b, digenic Digenic recessive 602023 613090 1 unequal crossingover with CLCNKA CLCNKB CLCNKB CLCNKB Bartter syndrome, type 3 Autosomal recessive 602023 607364 1 unequal crossingover with CLCNKA +CLCNKB CLCNKB CLCNKB Bartter syndrome, type 4b, digenic Digenic recessive 602023 613090 1 unequal crossingover with CLCNKA EPHA2|ECK|ARCC2|CTPP1|CTPA|ARCC2|CTRCT6 EPHA2|EPHA2|NA|NA|NA|NA|NA EPHA2 Cataract 6, multiple types Autosomal dominant 176946 116600 1 NA ATP13A2|PARK9|KRPPD|CLN12 ATP13A2|ATP13A2|NA|ATP13A2 ATP13A2 Kufor-Rakeb syndrome Autosomal recessive 610513 606693 1 mutation identified in 1 family with CLN12 ATP13A2|PARK9|KRPPD|CLN12 ATP13A2|ATP13A2|NA|ATP13A2 ATP13A2 ?Ceroid lipofuscinosis, neuronal, 12 Autosomal recessive 610513 606693 1 mutation identified in 1 family with CLN12 +SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Paragangliomas 4 Autosomal dominant 185470 115310 1 1 of 2 polypeptides +SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Paraganglioma and gastric stromal sarcoma None 185470 606864 1 1 of 2 polypeptides SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Gastrointestinal stromal tumor Autosomal dominant; Isolated cases 185470 606764 1 1 of 2 polypeptides SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Cowden syndrome 2 Autosomal dominant 185470 612359 1 1 of 2 polypeptides SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Pheochromocytoma Autosomal dominant 185470 171300 1 1 of 2 polypeptides -SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Paragangliomas 4 Autosomal dominant 185470 115310 1 1 of 2 polypeptides -SDHB|SDH2|SDHIP|PGL4|CWS2 SDHB|SDHA|NA|NA|NA SDHA,SDHB Paraganglioma and gastric stromal sarcoma None 185470 606864 1 1 of 2 polypeptides PADI4|PADI5|PAD PADI4|PADI4|DHX40,PADI4 PADI4,DHX40 Rheumatoid arthritis, susceptibility to None 605347 180300 1 NA PAX7|RMS2 PAX7|NA PAX7 Rhabdomyosarcoma 2, alveolar Autosomal recessive 167410 268220 1 fused with FKHR in rhabdomyosarcoma ALDH4A1|ALDH4|P5CDH ALDH4A1|ALDH4A1,ALDH9A1|NA ALDH4A1,ALDH9A1 Hyperprolinemia, type II Autosomal recessive 606811 239510 1 NA @@ -86,10 +87,10 @@ PINK1|PARK6 PINK1|PINK1 PINK1 Parkinson disease 6, early onset Autosomal recessi DDOST|OST|OST48|CDG1R DDOST|DDOST,MCF2L|DDOST|NA DDOST,MCF2L ?Congenital disorder of glycosylation, type Ir Autosomal recessive 602202 614507 1 mutation (cmpd het) identified in 1 CDG1R patient ECE1 ECE1 ECE1 Hypertension, essential, susceptibility to Multifactorial 600423 145500 1 NA ECE1 ECE1 ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction None 600423 613870 1 NA -ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Odontohypophosphatasia Autosomal dominant; Autosomal recessive 171760 146300 1 NA -ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Hypophosphatasia, infantile Autosomal recessive 171760 241500 1 NA ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Hypophosphatasia, childhood Autosomal recessive 171760 241510 1 NA ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Hypophosphatasia, adult Autosomal dominant; Autosomal recessive 171760 146300 1 NA +ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Odontohypophosphatasia Autosomal dominant; Autosomal recessive 171760 146300 1 NA +ALPL|HOPS|TNSALP ALPL|ALPL|ALPL ALPL Hypophosphatasia, infantile Autosomal recessive 171760 241500 1 NA HSPG2|PLC|SJS|SJA|SJS1 HSPG2|NA|NA|NA|HSPG2 HSPG2 Schwartz-Jampel syndrome, type 1 Autosomal recessive 142461 255800 1 NA HSPG2|PLC|SJS|SJA|SJS1 HSPG2|NA|NA|NA|HSPG2 HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type Autosomal recessive 142461 224410 1 NA CDC42|TKS CDC42|NA CDC42 Takenouchi-Kosaki syndrome None 116952 616737 1 NA @@ -109,8 +110,8 @@ RHD RHD RHD Rh-negative blood type None 111680 NA 1 NA RHCE RHCE RHCE Blood group, Rhesus None 111700 111690 1 ?order: C-E-D RHCE RHCE RHCE Rh-null disease, amorph type None 111700 NA 1 ?order: C-E-D LDLRAP1|ARH|FHCB2|FHCB1 LDLRAP1|LDLRAP1|LDLRAP1|LDLRAP1 LDLRAP1 Hypercholesterolemia, familial, autosomal recessive None 605747 603813 1 NA -SEPN1|SELN|RSMD1|CFTD SEPN1|NA|SEPN1|MPFD MPFD,SEPN1 Muscular dystrophy, rigid spine, 1 Autosomal recessive 606210 602771 1 NA SEPN1|SELN|RSMD1|CFTD SEPN1|NA|SEPN1|MPFD MPFD,SEPN1 Myopathy, congenital, with fiber-type disproportion Autosomal dominant; Autosomal recessive 606210 255310 1 NA +SEPN1|SELN|RSMD1|CFTD SEPN1|NA|SEPN1|MPFD MPFD,SEPN1 Muscular dystrophy, rigid spine, 1 Autosomal recessive 606210 602771 1 NA SLC30A2|ZNT2|TNZD SLC30A2|SLC30A2|NA SLC30A2 Zinc deficiency, transient neonatal Autosomal dominant 609617 608118 1 NA DHDDS|HDS|RP59 DHDDS|DHDDS|DHDDS DHDDS Retinitis pigmentosa 59 Autosomal recessive 608172 613861 1 NA ARID1A|C1orf4|B120|SMARCF1|MRD14|CSS2 ARID1A|ARID1A|ARID1A|ARID1A|NA|CHPF ARID1A,CHPF Coffin-Siris syndrome 2 Autosomal dominant 603024 614607 1 NA @@ -128,14 +129,14 @@ HPCA|DYT2 CACNA1A,HPCA|DYT2 CACNA1A,HPCA,DYT2 Dystonia 2, torsion, autosomal rec AK2 AK2 AK2 Reticular dysgenesis Autosomal recessive 103020 267500 1 NA GBD3 GBD3 GBD3 Gallbladder disease 3 None 609919 609919 1 new D2S255 GJB4|CX30.3 GJB4|GJB4 GJB4 Erythrokeratodermia variabilis with erythema gyratum repens Autosomal dominant; Autosomal recessive 605425 133200 1 NA +GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, digenic, GJB2/GJB3 Autosomal recessive; Digenic dominant 603324 220290 1 same YAC as GJA4 +GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, autosomal recessive None 603324 NA 1 same YAC as GJA4 GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, autosomal dominant, with peripheral neuropathy None 603324 NA 1 same YAC as GJA4 GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, autosomal dominant 2B Autosomal dominant 603324 612644 1 same YAC as GJA4 GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Erythrokeratodermia variabilis et progressiva Autosomal dominant; Autosomal recessive 603324 133200 1 same YAC as GJA4 -GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, digenic, GJB2/GJB3 Digenic dominant; Autosomal recessive 603324 220290 1 same YAC as GJA4 -GJB3|CX31|DFNA2B GJB3|GJB3|NA GJB3 Deafness, autosomal recessive None 603324 NA 1 same YAC as GJA4 -COL8A2|FECD1|PPCD2 COL8A2|COL8A2|COL8A2 COL8A2 Corneal dystrophy, posterior polymorphous 2 None 120252 609140 1 NA COL8A2|FECD1|PPCD2 COL8A2|COL8A2|COL8A2 COL8A2 Corneal dystrophy, Fuchs endothelial, 1 Autosomal dominant 120252 136800 1 NA -CSF3R|GCSFR|SCN7 CSF3R|CSF3R|NA CSF3R Neutropenia, severe congenital, 7, autosomal recessive None 138971 617014 1 NA +COL8A2|FECD1|PPCD2 COL8A2|COL8A2|COL8A2 COL8A2 Corneal dystrophy, posterior polymorphous 2 None 120252 609140 1 NA +CSF3R|GCSFR|SCN7 CSF3R|CSF3R|NA CSF3R Neutropenia, severe congenital, 7, autosomal recessive Autosomal recessive 138971 617014 1 NA SNIP1|PMRED SNIP1|NA SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism Autosomal recessive 608241 614501 1 NA RSPO1|FLJ40906 RSPO1|RSPO1 RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal None 609595 610644 1 NA RSPO1|FLJ40906 RSPO1|RSPO1 RSPO1 Palmoplantar hyperkeratosis and true hermaphroditism None 609595 610644 1 NA @@ -143,31 +144,31 @@ MFSD2A|MCPH15 MFSD2A|NA MFSD2A Microcephaly 15, primary, autosomal recessive Aut PPT1|CLN1 PPT1|PPT1 PPT1 Ceroid lipofuscinosis, neuronal, 1 Autosomal recessive 600722 256730 1 NA ZMPSTE24|FACE1|STE24|MADB ZMPSTE24|NA|ZMPSTE24|NA ZMPSTE24 Restrictive dermopathy, lethal Autosomal recessive 606480 275210 1 NA ZMPSTE24|FACE1|STE24|MADB ZMPSTE24|NA|ZMPSTE24|NA ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy Autosomal recessive 606480 608612 1 NA -COL9A2|EDM2|STL5 COL9A2|COL9A2|NA COL9A2 Intervertebral disc disease, susceptibility to None 120260 603932 1 mutation identified in1 STL5 family COL9A2|EDM2|STL5 COL9A2|COL9A2|NA COL9A2 Epiphyseal dysplasia, multiple, 2 Autosomal dominant 120260 600204 1 mutation identified in1 STL5 family COL9A2|EDM2|STL5 COL9A2|COL9A2|NA COL9A2 ?Stickler syndrome, type V Autosomal recessive 120260 614284 1 mutation identified in1 STL5 family +COL9A2|EDM2|STL5 COL9A2|COL9A2|NA COL9A2 Intervertebral disc disease, susceptibility to None 120260 603932 1 mutation identified in1 STL5 family KCNQ4|DFNA2A KCNQ4|NA KCNQ4 Deafness, autosomal dominant 2A Autosomal dominant 603537 600101 1 NA CTPS1|CTPS|IMD24 CTPS1|CTPS1|NA CTPS1 Immunodeficiency 24 Autosomal recessive 123860 615897 1 NA CLDN19|HOMG5 CLDN19|NA CLDN19 Hypomagnesemia 5, renal, with ocular involvement Autosomal recessive 610036 248190 1 NA P3H1|LEPRE1|GROS1|OI8 P3H1|P3H1|P3H1|NA P3H1 Osteogenesis imperfecta, type VIII Autosomal recessive 610339 610915 1 NA ERMAP|SC|RD ERMAP|ERMAP|DYX1,ERMAP,NELFE,PEX7,PHYH ERMAP,DYX1,PHYH,PEX7,NELFE Blood group, Scianna system None 609017 111750 1 NA ERMAP|SC|RD ERMAP|ERMAP|DYX1,ERMAP,NELFE,PEX7,PHYH ERMAP,DYX1,PHYH,PEX7,NELFE Blood group, Radin None 609017 111620 1 NA +SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 GLUT1 deficiency syndrome 2, childhood onset Autosomal dominant 138140 612126 1 probably in 1p33 +SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe Autosomal dominant; Autosomal recessive 138140 606777 1 probably in 1p33 SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 Dystonia 9 Autosomal dominant 138140 601042 1 probably in 1p33 SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 Epilepsy, idiopathic generalized, susceptibility to, 12 Autosomal dominant 138140 614847 1 probably in 1p33 SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 Stomatin-deficient cryohydrocytosis with neurologic defects Autosomal dominant 138140 608885 1 probably in 1p33 -SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 GLUT1 deficiency syndrome 2, childhood onset Autosomal dominant 138140 612126 1 probably in 1p33 -SLC2A1|GLUT1|DYT18|PED|GLUT1DS|EIG12|DYT9|SDCHCN SLC2A1|SLC2A1|SLC2A1|PEA15|NA|NA|NA|NA PEA15,SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe Autosomal dominant; Autosomal recessive 138140 606777 1 probably in 1p33 -MPL|TPOR|MPLV|THCYT2 MPL|MPL|NA|NA MPL Myelofibrosis with myeloid metaplasia, somatic None 159530 254450 1 NA MPL|TPOR|MPLV|THCYT2 MPL|MPL|NA|NA MPL Thrombocytopenia, congenital amegakaryocytic Autosomal recessive 159530 604498 1 NA -MPL|TPOR|MPLV|THCYT2 MPL|MPL|NA|NA MPL Thrombocythemia 2 Autosomal dominant; Somatic mutation 159530 601977 1 NA +MPL|TPOR|MPLV|THCYT2 MPL|MPL|NA|NA MPL Thrombocythemia 2 Somatic mutation; Autosomal dominant 159530 601977 1 NA +MPL|TPOR|MPLV|THCYT2 MPL|MPL|NA|NA MPL Myelofibrosis with myeloid metaplasia, somatic None 159530 254450 1 NA SZT2|KIAA0467|EIEE18 SZT2|SZT2|NA SZT2 Epileptic encephalopathy, early infantile, 18 Autosomal recessive 615463 615476 1 NA PTPRF|LAR|BNAH2 PTPRF|PTPRF|NA PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2 Autosomal recessive 179590 616001 1 mutation identified in 1 BNAH2 family PTOS1 PTOS1 PTOS1 Ptosis, hereditary congenital, 1 Autosomal dominant 178300 178300 1 NA -ST3GAL3|SIAT6|ST3GALII|MRT12|EIEE15 ST3GAL3|ST3GAL3|ST3GAL2|ST3GAL3|NA ST3GAL3,ST3GAL2 Mental retardation, autosomal recessive 12 None 606494 611090 1 NA +ST3GAL3|SIAT6|ST3GALII|MRT12|EIEE15 ST3GAL3|ST3GAL3|ST3GAL2|ST3GAL3|NA ST3GAL3,ST3GAL2 Mental retardation, autosomal recessive 12 Autosomal recessive 606494 611090 1 NA ST3GAL3|SIAT6|ST3GALII|MRT12|EIEE15 ST3GAL3|ST3GAL3|ST3GAL2|ST3GAL3|NA ST3GAL3,ST3GAL2 Epileptic encephalopathy, early infantile, 15 Autosomal recessive 606494 615006 1 NA -PTCH2 PTCH2 PTCH2 Basal cell carcinoma, somatic None 603673 605462 1 NA PTCH2 PTCH2 PTCH2 Medulloblastoma Autosomal dominant 603673 155255 1 NA PTCH2 PTCH2 PTCH2 Basal cell nevus syndrome Autosomal dominant 603673 109400 1 NA +PTCH2 PTCH2 PTCH2 Basal cell carcinoma, somatic None 603673 605462 1 NA EIF2B3 EIF2B3 EIF2B3 Leukoencephalopathy with vanishing white matter Autosomal recessive 606273 603896 1 NA UROD UROD UROD Porphyria, hepatoerythropoietic Autosomal dominant 613521 176100 1 NA UROD UROD UROD Porphyria cutanea tarda Autosomal dominant 613521 176100 1 NA @@ -175,12 +176,13 @@ MUTYH|MYH MUTYH|MUTYH MUTYH Gastric cancer, somatic None 604933 613659 1 NA MUTYH|MYH MUTYH|MUTYH MUTYH Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Somatic mutation 604933 132600 1 NA MUTYH|MYH MUTYH|MUTYH MUTYH Adenomas, multiple colorectal None 604933 608456 1 NA MMACHC MMACHC MMACHC Methylmalonic aciduria and homocystinuria, cblC type Autosomal recessive 609831 277400 1 NA -POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3 POMGNT1|POMGNT1|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Autosomal recessive 606822 253280 1 NA -POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3 POMGNT1|POMGNT1|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Autosomal recessive 606822 613157 1 NA -POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3 POMGNT1|POMGNT1|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Autosomal recessive 606822 613151 1 NA +POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3|RP76 POMGNT1|POMGNT1|NA|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Autosomal recessive 606822 613157 1 NA +POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3|RP76 POMGNT1|POMGNT1|NA|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Autosomal recessive 606822 613151 1 NA +POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3|RP76 POMGNT1|POMGNT1|NA|NA|NA|NA POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Autosomal recessive 606822 253280 1 NA +POMGNT1|MEB|MDDGA3|MDDGB3|MDDGC3|RP76 POMGNT1|POMGNT1|NA|NA|NA|NA POMGNT1 Retinitis pigmentosa 76 Autosomal recessive 606822 617123 1 NA +RAD54L|HR54|HRAD54 RAD54L|NA|NA RAD54L Adenocarcinoma, colonic, somatic None 603615 NA 1 NA RAD54L|HR54|HRAD54 RAD54L|NA|NA RAD54L Breast cancer, invasive ductal Autosomal dominant 603615 114480 1 NA RAD54L|HR54|HRAD54 RAD54L|NA|NA RAD54L Lymphoma, non-Hodgkin, somatic None 603615 605027 1 NA -RAD54L|HR54|HRAD54 RAD54L|NA|NA RAD54L Adenocarcinoma, colonic, somatic None 603615 NA 1 NA FAAH FA2H,FAAH FAAH,FA2H Drug addiction, susceptibility to None 602935 606581 1 NA TAL1|TCL5|SCL TAL1|TAL1|KRT7,SCLY,TAL1 KRT7,SCLY,TAL1 Leukemia, T-cell acute lymphocytic, somatic None 187040 613065 1 proximal to MYCL1 STIL|SIL|MCPH7 STIL|PMEL,STIL|STIL STIL,PMEL Microcephaly 7, primary, autosomal recessive Autosomal recessive 181590 612703 1 within about 250kb of SCL @@ -190,11 +192,11 @@ ELAVL4|HUD|PNEM ELAVL4|ELAVL4|ELAVL4 ELAVL4 Neuropathy, paraneoplastic sensory N PARK10|AAOPD PARK10|PARK10 PARK10 Parkinson disease 10 None 606852 606852 1 max lod at D1S2652; ?associated with CDCP2 SCA37 SCA37 SCA37 Spinocerebellar ataxia 37 Autosomal dominant 615945 615945 1 between D1S200 and D1S2742 ORC1|ORC1L ORC1,SLC25A15|ORC1 SLC25A15,ORC1 Meier-Gorlin syndrome 1 Autosomal recessive 601902 224690 1 NA -SCP2 CTDSP2,SCP2,SYCP2 SYCP2,SCP2,CTDSP2 Leukoencephalopathy with dystonia and motor neuropathy None 184755 613724 1 NA -CPT2|IIAE4 CPT2|NA CPT2 CPT II deficiency, lethal neonatal Autosomal recessive 600650 608836 1 formerly at 1p13 -CPT2|IIAE4 CPT2|NA CPT2 CPT deficiency, hepatic, type II Autosomal recessive 600650 600649 1 formerly at 1p13 +SCP2 CTDSP2,SCP2,SYCP2 SYCP2,SCP2,CTDSP2 Leukoencephalopathy with dystonia and motor neuropathy Autosomal recessive 184755 613724 1 NA CPT2|IIAE4 CPT2|NA CPT2 Encephalopathy, acute, infection-induced, 4, susceptibility to Autosomal dominant; Autosomal recessive 600650 614212 1 formerly at 1p13 CPT2|IIAE4 CPT2|NA CPT2 Myopathy due to CPT II deficiency Autosomal recessive 600650 255110 1 formerly at 1p13 +CPT2|IIAE4 CPT2|NA CPT2 CPT II deficiency, lethal neonatal Autosomal recessive 600650 608836 1 formerly at 1p13 +CPT2|IIAE4 CPT2|NA CPT2 CPT deficiency, hepatic, type II Autosomal recessive 600650 600649 1 formerly at 1p13 LRP8|APOER2|MCI1 LRP8|LRP8|LRP8 LRP8 Myocardial infarction, susceptibility to None 602600 608446 1 NA DHCR24|KIAA0018 DHCR24|DHCR24 DHCR24 Desmosterolosis Autosomal recessive 606418 602398 1 NA BSND BSND BSND Sensorineural deafness with mild renal dysfunction Autosomal recessive 606412 602522 1 NA @@ -211,7 +213,8 @@ ANGPTL3|ANGPT5|FHBL2 ANGPTL3|ANGPTL3|NA ANGPTL3 Hypobetalipoproteinemia, familia FOXD3|AIS1|VAMAS2 FOXD3|AIS1|NA AIS1,FOXD3 Autoimmune disease, susceptibility to, 1 None 611539 607836 1 NA ALG6|CDG1C ALG6|NA ALG6 Congenital disorder of glycosylation, type Ic Autosomal recessive 604566 603147 1 NA PGM1|GSD14|CDG1T PGM1|NA|NA PGM1 Congenital disorder of glycosylation, type It Autosomal recessive 171900 614921 1 distal to ACADM; formerly 1p22.1 -DNAJC6|DJC6|KIAA0473|PARK19 DNAJC6|NA|DNAJC6|NA DNAJC6 Parkinson disease 19, juvenile-onset Autosomal recessive 608375 615528 1 NA +DNAJC6|DJC6|KIAA0473|PARK19 DNAJC6|NA|DNAJC6|NA DNAJC6 Parkinson disease 19b, early-onset Autosomal recessive 608375 615528 1 NA +DNAJC6|DJC6|KIAA0473|PARK19 DNAJC6|NA|DNAJC6|NA DNAJC6 Parkinson disease 19a, juvenile-onset Autosomal recessive 608375 615528 1 NA LEPR|OBR|LEPRD LEPR|LEPR|NA LEPR Obesity, morbid, due to leptin receptor deficiency None 601007 614963 1 NA SLC35D1|UGTREL7|KIAA0260 SLC35D1|SLC35D1|SLC35D1 SLC35D1 Schneckenbecken dysplasia Autosomal recessive 610804 269250 1 NA IL23R|IBD17 IL23R|NA IL23R Psoriasis, protection against None 607562 605606 1 NA @@ -223,53 +226,53 @@ CTH CTH,VSIG2 VSIG2,CTH Homocysteine, total plasma, elevated None 607657 NA 1 pr CTH CTH,VSIG2 VSIG2,CTH Cystathioninuria Autosomal recessive 607657 219500 1 previously assigned to chr.16 TNNI3K|CCDD TNNI3K|NA TNNI3K ?Cardiac conduction disease with or without dilated cardiomyopathy Autosomal dominant 613932 616117 1 mutation identified in 1 CCDD family ACADM|MCAD ACADM|ACADM ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of Autosomal recessive 607008 201450 1 NA -NEXN|NELIN|CMD1CC|CMH20 NEXN|NEXN|NA|NA NEXN Cardiomyopathy, hypertrophic, 20 Autosomal dominant 613121 613876 1 NA NEXN|NELIN|CMD1CC|CMH20 NEXN|NEXN|NA|NA NEXN Cardiomyopathy, dilated, 1CC None 613121 613122 1 NA +NEXN|NELIN|CMD1CC|CMH20 NEXN|NEXN|NA|NA NEXN Cardiomyopathy, hypertrophic, 20 Autosomal dominant 613121 613876 1 NA UOX UOX UOX Urate oxidase deficiency None 191540 NA 1 nonsense mutations responsible for absence of enzyme in man and hominoid primates -BCL10|IMD37 BCL10|NA BCL10 Lymphoma, MALT, somatic None 603517 137245 1 mutation identified in 1 IMD37 patient -BCL10|IMD37 BCL10|NA BCL10 ?Immunodeficiency 37 Autosomal recessive 603517 616098 1 mutation identified in 1 IMD37 patient -BCL10|IMD37 BCL10|NA BCL10 Sezary syndrome, somatic None 603517 NA 1 mutation identified in 1 IMD37 patient BCL10|IMD37 BCL10|NA BCL10 Mesothelioma, somatic None 603517 156240 1 mutation identified in 1 IMD37 patient BCL10|IMD37 BCL10|NA BCL10 Male germ cell tumor, somatic, None 603517 273300 1 mutation identified in 1 IMD37 patient BCL10|IMD37 BCL10|NA BCL10 Lymphoma, follicular, somatic None 603517 605027 1 mutation identified in 1 IMD37 patient +BCL10|IMD37 BCL10|NA BCL10 Lymphoma, MALT, somatic None 603517 137245 1 mutation identified in 1 IMD37 patient +BCL10|IMD37 BCL10|NA BCL10 ?Immunodeficiency 37 Autosomal recessive 603517 616098 1 mutation identified in 1 IMD37 patient +BCL10|IMD37 BCL10|NA BCL10 Sezary syndrome, somatic None 603517 NA 1 mutation identified in 1 IMD37 patient ZNF644|MYP21 ZNF644|NA ZNF644 Myopia 21, autosomal dominant Autosomal dominant 614159 614167 1 NA HFM1|MER3|POF9 HFM1|HFM1|NA HFM1 Premature ovarian failure 9 Autosomal recessive 615684 615724 1 NA DFNB32 DFNB32 DFNB32 Deafness, autosomal recessive 32 Autosomal recessive 608653 608653 1 max lod at D1S21401 GLML|GVM|VMGLOM GLMN|GLMN|GLMN GLMN Glomuvenous malformations Autosomal dominant 601749 138000 1 NA -GFI1|ZNF163|SCN2 GFI1|GFI1|NA GFI1 Neutropenia, nonimmune chronic idiopathic, of adults None 600871 607847 1 NA GFI1|ZNF163|SCN2 GFI1|GFI1|NA GFI1 Neutropenia, severe congenital 2, autosomal dominant None 600871 613107 1 NA +GFI1|ZNF163|SCN2 GFI1|GFI1|NA GFI1 Neutropenia, nonimmune chronic idiopathic, of adults None 600871 607847 1 NA RPL5|DBA6 RPL5|NA RPL5 Diamond-Blackfan anemia 6 None 603634 612561 1 NA GCLM|GLCLR GCLM|GCLM GCLM Myocardial infarction, susceptibility to None 601176 608446 1 NA -ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Retinal dystrophy, early-onset severe Autosomal recessive 601691 248200 1 NA -ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Fundus flavimaculatus Autosomal recessive 601691 248200 1 NA ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Cone-rod dystrophy 3 None 601691 604116 1 NA ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Macular degeneration, age-related, 2 Autosomal dominant 601691 153800 1 NA ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Stargardt disease 1 Autosomal recessive 601691 248200 1 NA ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Retinitis pigmentosa 19 None 601691 601718 1 NA +ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Retinal dystrophy, early-onset severe Autosomal recessive 601691 248200 1 NA +ABCA4|ABCR|STGD1|FFM|RP19|CORD3|ARMD2 ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4|ABCA4 ABCA4 Fundus flavimaculatus Autosomal recessive 601691 248200 1 NA RP32 RP32 RP32 Retinitis pigmentosa 32 None 609913 609913 1 max lod at D1S485 WS2B WS2B WS2B Waardenburg syndrome, type 2B Autosomal dominant 600193 600193 1 NA ABCD3|PXMP1|PMP70|CBAS5 ABCD3|ABCD3,PEX19|ABCD3|NA PEX19,ABCD3 ?Bile acid synthesis defect, congenital, 5 Autosomal recessive 170995 616278 1 mutation identified in 1 CBAS5 family ALG14|CMS15 ALG14|NA ALG14 ?Myasthenic syndrome, congenital, 15, without tubular aggregates None 612866 616227 1 mutation identified in 1 CMSWTA family -DPYD|DPD DPYD|DPYD DPYD 5-fluorouracil toxicity Autosomal recessive 612779 274270 1 NA DPYD|DPD DPYD|DPYD DPYD Dihydropyrimidine dehydrogenase deficiency Autosomal recessive 612779 274270 1 NA -AGL|GDE AGL|NA AGL Glycogen storage disease IIIb Autosomal recessive 610860 232400 1 NA +DPYD|DPD DPYD|DPYD DPYD 5-fluorouracil toxicity Autosomal recessive 612779 274270 1 NA AGL|GDE AGL|NA AGL Glycogen storage disease IIIa Autosomal recessive 610860 232400 1 NA +AGL|GDE AGL|NA AGL Glycogen storage disease IIIb Autosomal recessive 610860 232400 1 NA SLC35A3|AMRS SLC35A3|NA SLC35A3 ?Arthrogryposis, mental retardation, and seizures Autosomal recessive 605632 615553 1 mutation identified in 1 family SASS6|SAS6|MCPH14 SASS6|SASS6|NA SASS6 ?Microcephaly 14, primary, autosomal recessive Autosomal recessive 609321 616402 1 mutation identified in 1 MCPH14 family DBT|BCATE2 DBT|NA DBT Maple syrup urine disease, type II Autosomal recessive 248610 248600 1 pseudogene on 3q24 CDC14A|DFNB105 CDC14A|NA CDC14A Deafness, autosomal recessive 105 Autosomal recessive 603504 616958 1 NA GPR88|STRG|COCPMR GPR88|NA|NA GPR88 ?Chorea, childhood-onset, with psychomotor retardation Autosomal recessive 607468 616939 1 mutation identified in 1 COCPMR family -MRT4 MRT4,MRTO4 MRT4,MRTO4 Mental retardation, autosomal recessive, 4 None 611107 611107 1 between D2S429 and D1S187 -COL11A1|STL2 COL11A1|COL11A1 COL11A1 Fibrochondrogenesis 1 Autosomal recessive 120280 228520 1 NA +MRT4 MRT4,MRTO4 MRT4,MRTO4 Mental retardation, autosomal recessive, 4 Autosomal recessive 611107 611107 1 between D2S429 and D1S187 COL11A1|STL2 COL11A1|COL11A1 COL11A1 Lumbar disc herniation, susceptibility to None 120280 603932 1 NA COL11A1|STL2 COL11A1|COL11A1 COL11A1 Stickler syndrome, type II Autosomal dominant 120280 604841 1 NA COL11A1|STL2 COL11A1|COL11A1 COL11A1 Marshall syndrome Autosomal dominant 120280 154780 1 NA +COL11A1|STL2 COL11A1|COL11A1 COL11A1 Fibrochondrogenesis 1 Autosomal recessive 120280 228520 1 NA GPSM2|LGN|PINS|DFNB82|CMCS GPSM2|GPSM2|NA|GPSM2|NA GPSM2 Chudley-McCullough syndrome Autosomal recessive 609245 604213 1 NA SORT1|NT3|LDLCQ6 SORT1|SORT1,NT3|NA SORT1,NT3 Low density lipoprotein cholesterol level QTL6 Autosomal dominant 602458 613589 1 NA GNAI3|ARCND1 GNAI3|NA GNAI3 Auriculocondylar syndrome 1 Autosomal dominant 139370 602483 1 NA GNAT2|ACHM4 GNAT2|GNAT2 GNAT2 Achromatopsia-4 None 139340 613856 1 NA -AMPD2|SPG63|PCH9 AMPD2|AMPD2|NA AMPD2 Pontocerebellar hypoplasia, type 9 Autosomal recessive 102771 615809 1 mutation identified in 1 SPG63 family AMPD2|SPG63|PCH9 AMPD2|AMPD2|NA AMPD2 ?Spastic paraplegia 63 Autosomal recessive 102771 615686 1 mutation identified in 1 SPG63 family +AMPD2|SPG63|PCH9 AMPD2|AMPD2|NA AMPD2 Pontocerebellar hypoplasia, type 9 Autosomal recessive 102771 615809 1 mutation identified in 1 SPG63 family ALX3|FND1 ALX3|NA ALX3 Frontonasal dysplasia 1 Autosomal recessive 606014 136760 1 NA SLC6A17|NTT4|MRT48 SLC6A17|NA|NA SLC6A17 Mental retardation, autosomal recessive 48 Autosomal recessive 610299 616269 1 NA RBM15|SPEN|OTT RBM15|SPEN|RBM15 SPEN,RBM15 Megakaryoblastic leukemia, acute None 606077 606077 1 NA @@ -277,23 +280,23 @@ KCNA2|EIEE32 KCNA2|NA KCNA2 Epileptic encephalopathy, early infantile, 32 Autoso DRAM2|TMEM77|CORD21 DRAM2|DRAM2|NA DRAM2 Cone-rod dystrophy 21 Autosomal recessive 613360 616502 1 NA KCND3|KCND3S|KCND3L|SCA19|SCA22|BRGDA9 KCND3|NA|NA|KCND3|KCND3|NA KCND3 Spinocerebellar ataxia 19 Autosomal dominant 605411 607346 1 NA KCND3|KCND3S|KCND3L|SCA19|SCA22|BRGDA9 KCND3|NA|NA|KCND3|KCND3|NA KCND3 Brugada syndrome 9 Autosomal dominant 605411 616399 1 NA +SLC16A1|MCT1|HHF7|MCT1D SLC16A1|SLC16A1|NA|NA SLC16A1 Erythrocyte lactate transporter defect Autosomal dominant 600682 245340 1 NA SLC16A1|MCT1|HHF7|MCT1D SLC16A1|SLC16A1|NA|NA SLC16A1 Monocarboxylate transporter 1 deficiency Autosomal dominant; Autosomal recessive 600682 616095 1 NA SLC16A1|MCT1|HHF7|MCT1D SLC16A1|SLC16A1|NA|NA SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7 Autosomal dominant 600682 610021 1 NA -SLC16A1|MCT1|HHF7|MCT1D SLC16A1|SLC16A1|NA|NA SLC16A1 Erythrocyte lactate transporter defect Autosomal dominant 600682 245340 1 NA LRIG2|LIG2|KIAA0806|UFS2 LRIG2|LIG3|LRIG2|NA LRIG2,LIG3 Urofacial syndrome 2 Autosomal recessive 608869 615112 1 NA -PTPN22|PEP|PTPN8|LYP PTPN22|PAEP|PTPN22|SH2D1A PTPN22,SH2D1A,PAEP Diabetes, type 1, susceptibility to Autosomal recessive 600716 222100 1 NA PTPN22|PEP|PTPN8|LYP PTPN22|PAEP|PTPN22|SH2D1A PTPN22,SH2D1A,PAEP Systemic lupus erythematosus susceptibility to Autosomal dominant 600716 152700 1 NA PTPN22|PEP|PTPN8|LYP PTPN22|PAEP|PTPN22|SH2D1A PTPN22,SH2D1A,PAEP Rheumatoid arthritis, susceptibility to None 600716 180300 1 NA +PTPN22|PEP|PTPN8|LYP PTPN22|PAEP|PTPN22|SH2D1A PTPN22,SH2D1A,PAEP Diabetes, type 1, susceptibility to Autosomal recessive 600716 222100 1 NA AP4B1|SPG47|CPSQ5 AP4B1|AP4B1|NA AP4B1 Spastic paraplegia 47, autosomal recessive Autosomal recessive 607245 614066 1 NA AMPD1|MMDD AMPD1|NA AMPD1 Myopathy due to myoadenylate deaminase deficiency Autosomal recessive 102770 615511 1 NA -NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Neurocutaneous melanosis, somatic None 164790 249400 1 cen-CD2-NGFB-NRAS -NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Melanocytic nevus syndrome, congenital, somatic None 164790 137550 1 cen-CD2-NGFB-NRAS -NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Epidermal nevus, somatic None 164790 162900 1 cen-CD2-NGFB-NRAS NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Thyroid carcinoma, follicular, somatic None 164790 188470 1 cen-CD2-NGFB-NRAS NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Colorectal cancer, somatic None 164790 114500 1 cen-CD2-NGFB-NRAS NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic None 164790 163200 1 cen-CD2-NGFB-NRAS NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic None 164790 614470 1 cen-CD2-NGFB-NRAS NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Noonan syndrome 6 Autosomal dominant 164790 613224 1 cen-CD2-NGFB-NRAS +NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Neurocutaneous melanosis, somatic None 164790 249400 1 cen-CD2-NGFB-NRAS +NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Melanocytic nevus syndrome, congenital, somatic None 164790 137550 1 cen-CD2-NGFB-NRAS +NRAS|ALPS4|NS6|CMNS|NCMS NRAS|NA|NA|NA|NA NRAS Epidermal nevus, somatic None 164790 162900 1 cen-CD2-NGFB-NRAS TSHB|CHNG4 TSHB|NA TSHB Hypothryoidism, congenital, nongoitrous 4 Autosomal recessive 188540 275100 1 centromeric to NGFB NGF|NGFB|HSAN5 NGF|NGF|NA NGF Neuropathy, hereditary sensory and autonomic, type V Autosomal recessive 162030 608654 1 same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel VANGL1|STBM2 VANGL1|NA VANGL1 Neural tube defects, susceptibility to Autosomal dominant 610132 182940 1 NA @@ -305,8 +308,8 @@ HSD3B2 HSD3B2 HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxystero PHGDH|NLS1|PHGDHD PHGDH|NA|NA PHGDH Phosphoglycerate dehydrogenase deficiency Autosomal recessive 606879 601815 1 NA PHGDH|NLS1|PHGDHD PHGDH|NA|NA PHGDH Neu-Laxova syndrome 1 Autosomal recessive 606879 256520 1 NA HMGCS2 HMGCS2 HMGCS2 HMG-CoA synthase-2 deficiency None 600234 605911 1 NA -NOTCH2|AGS2|HJCYS NOTCH2|RNASEH2B|NA NOTCH2,RNASEH2B Hajdu-Cheney syndrome Autosomal dominant 600275 102500 1 NA NOTCH2|AGS2|HJCYS NOTCH2|RNASEH2B|NA NOTCH2,RNASEH2B Alagille syndrome 2 Autosomal dominant 600275 610205 1 NA +NOTCH2|AGS2|HJCYS NOTCH2|RNASEH2B|NA NOTCH2,RNASEH2B Hajdu-Cheney syndrome Autosomal dominant 600275 102500 1 NA CORD8 CORD8 CORD8 Cone-rod dystrophy 8 Autosomal recessive 605549 605549 1 NA DFNA49 DFNA49 DFNA49 Deafness, autosomal dominant 49 Autosomal dominant 608372 608372 1 max lod at D1S3784 and D1S3786 DFNA7 DFNA7 DFNA7 Deafness, autosomal dominant 7 Autosomal dominant 601412 601412 1 NA @@ -314,8 +317,8 @@ PSORS4 PSORS4 PSORS4 Psoriasis susceptibility 4 None 603935 603935 1 NA PEX11B|PEX14B PEX11B|NA PEX11B Peroxisome biogenesis disorder 14B None 603867 614920 1 NA RBM8A|RBM8B|TAR|C1DELq21.1|DEL1q21.1 RBM8A|RBM8A,RBM8B|NA|NA|NA RBM8A,RBM8B Thrombocytopenia-absent radius syndrome Autosomal recessive 605313 274000 1 pseudogene on chr.14 HJV|HFE2A HFE2|HFE2 HFE2 Hemochromatosis, type 2A None 608374 602390 1 between D1S442 and D1S2347 -GJA5|CX40|ATFB11 GJA5|GJA5|NA GJA5 Atrial standstill, digenic (GJA5/SCN5A) Autosomal dominant 121013 108770 1 NA GJA5|CX40|ATFB11 GJA5|GJA5|NA GJA5 Atrial fibrillation, familial, 11 Autosomal dominant 121013 614049 1 NA +GJA5|CX40|ATFB11 GJA5|GJA5|NA GJA5 Atrial standstill, digenic (GJA5/SCN5A) Autosomal dominant 121013 108770 1 NA GJA8|CX50|CTRCT1|CZP1|CAE1 GJA8|GJA8|NA|GJA8|GJA8 GJA8 Cataract 1, multiple types Autosomal dominant 600897 116200 1 NA FCGR1A|IGFR1|CD64 FCGR1A|NA|FCGR1A FCGR1A IgG receptor I, phagocytic, familial deficiency of None 146760 NA 1 NA SF3B4|SF3B49|SAP49|AFD1 SF3B4|NA|SF3B4|AFD1 SF3B4,AFD1 Acrofacial dysostosis 1, Nager type Autosomal dominant 605593 154400 1 NA @@ -323,8 +326,8 @@ VPS45A|VPS45|SCN5 VPS45|VPS45|NA VPS45 Neutropenia, severe congenital, 5, autoso PRPF3|HPRP3|RP18 PRPF3|NA|PRPF3 PRPF3 Retinitis pigmentosa 18 Autosomal dominant 607301 601414 1 NA TARS2|COXPD21 TARS2|NA TARS2 ?Combined oxidative phosphorylation deficiency 21 Autosomal recessive 612805 615918 1 mutation identified in one COXPD21 family ECM1|URBWD ECM1|NA ECM1 Urbach-Wiethe disease Autosomal recessive 602201 247100 1 NA -ADAMTSL4|TSRC1|ECTOL2 ADAMTSL4|ADAMTSL4|NA ADAMTSL4 Ectopia lentis, isolated, autosomal recessive Autosomal recessive 610113 225100 1 NA ADAMTSL4|TSRC1|ECTOL2 ADAMTSL4|ADAMTSL4|NA ADAMTSL4 Ectopia lentis et pupillae Autosomal recessive 610113 225200 1 NA +ADAMTSL4|TSRC1|ECTOL2 ADAMTSL4|ADAMTSL4|NA ADAMTSL4 Ectopia lentis, isolated, autosomal recessive Autosomal recessive 610113 225100 1 NA CTSK CTSK CTSK Pycnodysostosis Autosomal recessive 601105 265800 1 NA ZNF687|KIAA1441|PDB6 ZNF687|ZNF687|PDB6 PDB6,ZNF687 Paget disease of bone 6 Autosomal dominant 610568 616833 1 fused with AML1 in t(1;21) RFX5 RFX5 RFX5 Bare lymphocyte syndrome, type II, complementation group E Autosomal recessive 601863 209920 1 NA @@ -334,10 +337,10 @@ RORC|RORG|RZRG|IMD42 RORC|RORC|RORC|NA RORC Immunodeficiency 42 Autosomal recess FLG|ATOD2 FGFR1,FLG|NA FLG,FGFR1 Dermatitis, atopic, susceptibility to, 2 None 135940 605803 1 NA FLG|ATOD2 FGFR1,FLG|NA FLG,FGFR1 Ichthyosis vulgaris Autosomal dominant 135940 146700 1 NA LOR LOR LOR Vohwinkel syndrome with ichthyosis Autosomal dominant 152445 604117 1 NA -GATAD2B|KIAA1150|p68|MRD18 GATAD2B|NA|DDX5|NA GATAD2B,DDX5 Mental retardation, autosomal dominant 18 None 614998 615074 1 NA +GATAD2B|KIAA1150|p68|MRD18 GATAD2B|NA|DDX5|NA GATAD2B,DDX5 Mental retardation, autosomal dominant 18 Autosomal dominant 614998 615074 1 NA +TPM3|NEM1|CFTD|CAPM1 TPM3|TPM3|MPFD|NA MPFD,TPM3 Nemaline myopathy 1, autosomal dominant or recessive Autosomal dominant; Autosomal recessive 191030 609284 1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd TPM3|NEM1|CFTD|CAPM1 TPM3|TPM3|MPFD|NA MPFD,TPM3 Myopathy, congenital, with fiber-type disproportion Autosomal dominant; Autosomal recessive 191030 255310 1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd TPM3|NEM1|CFTD|CAPM1 TPM3|TPM3|MPFD|NA MPFD,TPM3 CAP myopathy 1 Autosomal dominant; Autosomal recessive 191030 609284 1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd -TPM3|NEM1|CFTD|CAPM1 TPM3|TPM3|MPFD|NA MPFD,TPM3 Nemaline myopathy 1, autosomal dominant or recessive Autosomal dominant; Autosomal recessive 191030 609284 1 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd HAX1|SCN3 HAX1|NA HAX1 Neutropenia, severe congenital 3, autosomal recessive Autosomal recessive 605998 610738 1 NA IL6R|IL6RQ|IL6Q IL6R|NA|NA IL6R Interleukin-6 receptor, soluble, serum level of, QTL None 147880 614689 1 IL6R-like gene on chr.9 IL6R|IL6RQ|IL6Q IL6R|NA|NA IL6R Interleukin 6, serum level of, QTL None 147880 614752 1 IL6R-like gene on chr.9 @@ -348,18 +351,22 @@ PMVK|PMK|POROK1 PMVK|PMVK|NA PMVK Porokeratosis 1, multiple types Autosomal domi FLAD1|FADS|LSMFLAD FLAD1|NA|NA FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency Autosomal recessive 610595 255100 1 NA DPM3|CDG1O DPM3|NA DPM3 Congenital disorder of glycosylation, type Io None 605951 612937 1 NA MUC1|PUM|MCKD1 MUC1|MUC1,MYOD1|MUC1 MUC1,MYOD1 Medullary cystic kidney disease 1 Autosomal dominant 158340 174000 1 5cM proximal to SPTA1 -GBA GBA GBA Gaucher disease, type IIIC Autosomal recessive 606463 231005 1 pseudogene GBAP ~16kb 3' to GBA -GBA GBA GBA Gaucher disease, type III Autosomal recessive 606463 231000 1 pseudogene GBAP ~16kb 3' to GBA -GBA GBA GBA Gaucher disease, type II Autosomal recessive 606463 230900 1 pseudogene GBAP ~16kb 3' to GBA GBA GBA GBA Gaucher disease, type I Autosomal recessive 606463 230800 1 pseudogene GBAP ~16kb 3' to GBA GBA GBA GBA Parkinson disease, late-onset, susceptibility to Isolated cases; Multifactorial 606463 168600 1 pseudogene GBAP ~16kb 3' to GBA GBA GBA GBA Gaucher disease, perinatal lethal Autosomal recessive 606463 608013 1 pseudogene GBAP ~16kb 3' to GBA GBA GBA GBA Lewy body dementia, susceptibility to Autosomal dominant 606463 127750 1 pseudogene GBAP ~16kb 3' to GBA +GBA GBA GBA Gaucher disease, type IIIC Autosomal recessive 606463 231005 1 pseudogene GBAP ~16kb 3' to GBA +GBA GBA GBA Gaucher disease, type III Autosomal recessive 606463 231000 1 pseudogene GBAP ~16kb 3' to GBA +GBA GBA GBA Gaucher disease, type II Autosomal recessive 606463 230900 1 pseudogene GBAP ~16kb 3' to GBA PKLR|PK1 PKLR|PROK1 PKLR,PROK1 Pyruvate kinase deficiency Autosomal recessive 609712 266200 1 NA PKLR|PK1 PKLR|PROK1 PKLR,PROK1 Adenosine triphosphate, elevated, of erythrocytes Autosomal dominant 609712 102900 1 NA FDPS|FPS|POROK9 FDPS|FES|NA FDPS,FES Porokeratosis 9, multiple types None 134629 616631 1 NA RIT1|RIT|ROC1|NS8 RIT1|RIT1|RBX1,RIT1|NA RBX1,RIT1 Noonan syndrome 8 Autosomal dominant 609591 615355 1 NA LAMTOR2|MAPBPIP|p14 LAMTOR2|LAMTOR2|CDK2AP2,CDKN2A,LAMTOR2,SUB1 CDKN2A,CDK2AP2,LAMTOR2,SUB1 Immunodeficiency due to defect in MAPBP-interacting protein Autosomal recessive 610389 610798 1 NA +LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Muscular dystrophy, limb-girdle, type 1B Autosomal dominant 150330 159001 1 NA +LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Heart-hand syndrome, Slovenian type Autosomal dominant 150330 610140 1 NA +LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Muscular dystrophy, congenital Autosomal dominant 150330 613205 1 NA +LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Emery-Dreifuss muscular dystrophy 3, AR Autosomal recessive 150330 616516 1 NA LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Mandibuloacral dysplasia Autosomal recessive 150330 248370 1 NA LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Emery-Dreifuss muscular dystrophy 2, AD Autosomal dominant 150330 181350 1 NA LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Malouf syndrome Autosomal dominant 150330 212112 1 NA @@ -368,28 +375,24 @@ LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24| LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Restrictive dermopathy, lethal Autosomal recessive 150330 275210 1 NA LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Cardiomyopathy, dilated, 1A Autosomal dominant 150330 115200 1 NA LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Hutchinson-Gilford progeria Autosomal dominant; Autosomal recessive 150330 176670 1 NA -LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Muscular dystrophy, limb-girdle, type 1B Autosomal dominant 150330 159001 1 NA -LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Heart-hand syndrome, Slovenian type Autosomal dominant 150330 610140 1 NA -LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Muscular dystrophy, congenital Autosomal dominant 150330 613205 1 NA -LMNA|LMN1|EMD2|FPLD2|CMD1A|HGPS|LGMD1B LMNA|LMNA|NA|NA|LMNA|LMNA,ROBO3,ZMPSTE24|LMNA LMNA,ROBO3,ZMPSTE24 Emery-Dreifuss muscular dystrophy 3, AR Autosomal recessive 150330 616516 1 NA SEMA4A|SEMB|RP35|CORD10 SEMA4A|NA|RP35|SEMA4A SEMA4A,RP35 Retinitis pigmentosa 35 Autosomal dominant; Autosomal recessive 607292 610282 1 NA SEMA4A|SEMB|RP35|CORD10 SEMA4A|NA|RP35|SEMA4A SEMA4A,RP35 Cone-rod dystrophy 10 Autosomal recessive 607292 610283 1 NA PRCC|RCCP1 PRCC|PRCC PRCC Renal cell carcinoma, papillary None 179755 605074 1 t(X;1)(p11;q21); fuses with TFE3 in RCCP -NTRK1|TRKA|MTC NTRK1|NTRK1|NTRK1 NTRK1 Medullary thyroid carcinoma, familial Autosomal dominant 191315 155240 1 TRK = chimera of TPM3 and NTRK1 NTRK1|TRKA|MTC NTRK1|NTRK1|NTRK1 NTRK1 Insensitivity to pain, congenital, with anhidrosis Autosomal recessive 191315 256800 1 TRK = chimera of TPM3 and NTRK1 -SPTA1|EL2|SPH3|HS3|HPP SPTA1|SPTA1|NA|NA|NA SPTA1 Spherocytosis, type 3 Autosomal recessive 182860 270970 1 17cM proximal to FY +NTRK1|TRKA|MTC NTRK1|NTRK1|NTRK1 NTRK1 Medullary thyroid carcinoma, familial Autosomal dominant 191315 155240 1 TRK = chimera of TPM3 and NTRK1 SPTA1|EL2|SPH3|HS3|HPP SPTA1|SPTA1|NA|NA|NA SPTA1 Pyropoikilocytosis Autosomal recessive 182860 266140 1 17cM proximal to FY SPTA1|EL2|SPH3|HS3|HPP SPTA1|SPTA1|NA|NA|NA SPTA1 Elliptocytosis-2 Autosomal dominant 182860 130600 1 17cM proximal to FY -DARC|FY|GPD|WBCQ1 ACKR1|ACKR1|ACKR1|NA ACKR1 Malaria, vivax, protection against None 613665 611162 1 by A, 1q22-q23 +SPTA1|EL2|SPH3|HS3|HPP SPTA1|SPTA1|NA|NA|NA SPTA1 Spherocytosis, type 3 Autosomal recessive 182860 270970 1 17cM proximal to FY DARC|FY|GPD|WBCQ1 ACKR1|ACKR1|ACKR1|NA ACKR1 White blood cell count QTL None 613665 611862 1 by A, 1q22-q23 DARC|FY|GPD|WBCQ1 ACKR1|ACKR1|ACKR1|NA ACKR1 Blood group, Duffy system Autosomal dominant 613665 110700 1 by A, 1q22-q23 +DARC|FY|GPD|WBCQ1 ACKR1|ACKR1|ACKR1|NA ACKR1 Malaria, vivax, protection against None 613665 611162 1 by A, 1q22-q23 APCS|SAP APCS|APCS,SH2D1A APCS,SH2D1A ?Amyloidosis, secondary, susceptibility to None 104770 NA 1 probably close to CRP PIGM PIGM PIGM Glycosylphosphatidylinositol deficiency Autosomal recessive 610273 610293 1 NA KCNJ10|SESAME KCNJ10|NA KCNJ10 SESAME syndrome Autosomal recessive 602208 612780 1 NA KCNJ10|SESAME KCNJ10|NA KCNJ10 Enlarged vestibular aqueduct, digenic Autosomal recessive 602208 600791 1 NA -ATP1A2|FHM2|MHP2 ATP1A2|ATP1A2|ATP1A2 ATP1A2 Alternating hemiplegia of childhood Autosomal dominant 182340 104290 1 NA ATP1A2|FHM2|MHP2 ATP1A2|ATP1A2|ATP1A2 ATP1A2 Migraine, familial hemiplegic, 2 Autosomal dominant 182340 602481 1 NA ATP1A2|FHM2|MHP2 ATP1A2|ATP1A2|ATP1A2 ATP1A2 Migraine, familial basilar Autosomal dominant 182340 602481 1 NA +ATP1A2|FHM2|MHP2 ATP1A2|ATP1A2|ATP1A2 ATP1A2 Alternating hemiplegia of childhood Autosomal dominant 182340 104290 1 NA CASQ1|VMCQA CASQ1|NA CASQ1 Myopathy, vacuolar, with CASQ1 aggregates Autosomal dominant 114250 616231 1 NA DCAF8|WDR42A|GAN2 DCAF8|DCAF8|NA DCAF8 ?Giant axonal neuropathy 2, autosomal dominant Autosomal dominant 615820 610100 1 mutation identified in 1 GAN2 family PEX19|PXF|HK33|D1S2223E|PBD12A PEX19|PEX19|PEX19|PEX19|NA PEX19 Peroxisome biogenesis disorder 12A (Zellweger) None 600279 614886 1 NA @@ -400,22 +403,22 @@ CD244|NAIL|NKR2B4|SLAMF4 CD244|CD244|CD244|CD244 CD244 Rheumatoid arthritis, sus USF1|HYPLIP1 USF1|NA USF1 Hyperlipidemia, familial combined, susceptibility to None 191523 602491 1 NA PVRL4|PRR4|EDSS1 PVRL4|PRR4,PVRL4|NA PRR4,PVRL4 Ectodermal dysplasia-syndactyly syndrome 1 None 609607 613573 1 NA PPOX HCRT,PPOX HCRT,PPOX Porphyria variegata Autosomal dominant 600923 176200 1 NA -NDUFS2 NDUFS2 NDUFS2 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 602985 252010 1 NA +NDUFS2 NDUFS2 NDUFS2 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 602985 252010 1 NA APOA2 APOA2 APOA2 Hypercholesterolemia, familial, modifier of Autosomal dominant 107670 143890 1 NA APOA2 APOA2 APOA2 Apolipoprotein A-II deficiency None 107670 NA 1 NA +MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 2J Autosomal dominant 159440 607736 1 NA +MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 2I Autosomal dominant 159440 607677 1 NA +MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 1B Autosomal dominant 159440 118200 1 NA MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Roussy-Levy syndrome Autosomal dominant 159440 180800 1 NA MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, dominant intermediate D Autosomal dominant 159440 607791 1 NA MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Neuropathy, congenital hypomyelinating Autosomal dominant; Autosomal recessive 159440 605253 1 NA MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Dejerine-Sottas disease Autosomal dominant; Autosomal recessive 159440 145900 1 NA -MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 2J Autosomal dominant 159440 607736 1 NA -MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 2I Autosomal dominant 159440 607677 1 NA -MPZ|CMT1B|CMTDID|CHM|DSS MPZ|MPZ|NA|CHM|NR0B1 NR0B1,MPZ,CHM Charcot-Marie-Tooth disease, type 1B Autosomal dominant 159440 118200 1 NA SDHC|PGL3 SDHC|SDHC SDHC Paragangliomas 3 Autosomal dominant 602413 605373 1 NA SDHC|PGL3 SDHC|SDHC SDHC Paraganglioma and gastric stromal sarcoma None 602413 606864 1 NA SDHC|PGL3 SDHC|SDHC SDHC Gastrointestinal stromal tumor Autosomal dominant; Isolated cases 602413 606764 1 NA -FCGR2A|IGFR2|CD32 FCGR2A|FCGR2A|FCGR2A,FCGR2B FCGR2B,FCGR2A Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis Autosomal recessive 146790 219700 1 FCG2 and FCG3 within 250kb FCGR2A|IGFR2|CD32 FCGR2A|FCGR2A|FCGR2A,FCGR2B FCGR2B,FCGR2A Malaria, severe, susceptibility to None 146790 611162 1 FCG2 and FCG3 within 250kb FCGR2A|IGFR2|CD32 FCGR2A|FCGR2A|FCGR2A,FCGR2B FCGR2B,FCGR2A Lupus nephritis, susceptibility to Autosomal dominant 146790 152700 1 FCG2 and FCG3 within 250kb +FCGR2A|IGFR2|CD32 FCGR2A|FCGR2A|FCGR2A,FCGR2B FCGR2B,FCGR2A Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis Autosomal recessive 146790 219700 1 FCG2 and FCG3 within 250kb FCGR3A|CD16|IGFR3|IMD20 FCGR3A|FCGR3A,FCGR3B|NA|NA FCGR3A,FCGR3B Immunodeficiency 20 Autosomal recessive 146740 615707 1 FCGR2A and FCGR3A within 250kb antigen FCGR2C|CD32C FCGR2C|FCGR2C FCGR2C Thrombocytopenic purpura, autoimmune Autosomal dominant 612169 188030 1 NA FCGR3B FCGR3B FCGR3B Neutropenia, alloimmune neonatal None 610665 NA 1 NA @@ -426,31 +429,33 @@ DDR2|NTRKR3|TKT DDR2|DDR2|DDR2,TKT DDR2,TKT Spondylometaepiphyseal dysplasia, sh RGS5 RGS5 RGS5 Blood pressure regulation QTL Multifactorial 603276 145500 1 NA PBX1 PBX1 PBX1 Leukemia, acute pre-B-cell None 176310 176310 1 t(1;19); pseudogene PBXP1 on chr.3 DFNM1 DFNM1 DFNM1 Deafness, nonsyndromic, modifier 1 None 605429 605429 1 NA +SPG23 SPG23 SPG23 Spastic paraplegia 23 Autosomal recessive 270750 270750 1 max lod at D1S2692 TMCO1|CFSMR TMCO1|NA TMCO1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Autosomal recessive 614123 213980 1 NA CD247|CD3Z|TCRZ|IMD25 CD247|CD247|NA|NA CD247 ?Immunodeficiency 25 Autosomal recessive 186780 610163 1 mutation identified in one IMD25 patient ADCY10|SAC|HCA2 ADCY10|ADCY10|ADCY10,HCAR2,MAGEC3 HCAR2,MAGEC3,ADCY10 Hypercalciuria, absorptive, susceptibility to Autosomal dominant 605205 143870 1 NA TBX19 TBX19 TBX19 Adrenocorticotropic hormone deficiency Autosomal recessive 604614 201400 1 NA ATP1B1 ATP1B1 ATP1B1 Blood pressure regulation QTL Multifactorial 182330 145500 1 NA SLC19A2|THTR1|TRMA|THMD1 SLC19A2|SLC19A2|SLC19A2|NA SLC19A2 Thiamine-responsive megaloblastic anemia syndrome Autosomal recessive 603941 249270 1 NA -F5|THPH2|RPRGL1 F5|NA|NA F5 Factor V deficiency Autosomal recessive 612309 227400 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment -F5|THPH2|RPRGL1 F5|NA|NA F5 Thrombophilia, susceptibility to, due to factor V Leiden Autosomal dominant 612309 188055 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment F5|THPH2|RPRGL1 F5|NA|NA F5 Stroke, ischemic, susceptibility to Multifactorial 612309 601367 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment F5|THPH2|RPRGL1 F5|NA|NA F5 Pregnancy loss, recurrent, susceptibility to, 1 Autosomal dominant 612309 614389 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment F5|THPH2|RPRGL1 F5|NA|NA F5 Budd-Chiari syndrome Autosomal recessive 612309 600880 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment F5|THPH2|RPRGL1 F5|NA|NA F5 Thrombophilia due to activated protein C resistance Autosomal dominant 612309 188055 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment +F5|THPH2|RPRGL1 F5|NA|NA F5 Factor V deficiency Autosomal recessive 612309 227400 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment +F5|THPH2|RPRGL1 F5|NA|NA F5 Thrombophilia, susceptibility to, due to factor V Leiden Autosomal dominant 612309 188055 1 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment SELP|GRMP SELP|SELP SELP Atopy, susceptibility to Autosomal dominant 173610 147050 1 in same 300kb segment as LYAM1, ELAM1 SELE|ELAM1 SELE|SELE SELE Blood pressure regulation QTL Multifactorial 131210 145500 1 NA GORAB|SCYL1BP1|NTKLBP1|GO GORAB|GORAB|NA|GORAB GORAB Geroderma osteodysplasticum Autosomal recessive 607983 231070 1 NA PRRX1|PMX1|PHOX1|AGOTC PRRX1|PRRX1|PRRX1|NA PRRX1 Agnathia-otocephaly complex Autosomal dominant; Autosomal recessive 167420 202650 1 NA FMO3|TMAU FMO3|NA FMO3 Trimethylaminuria Autosomal recessive 136132 602079 1 NA MYOC|TIGR|GLC1A|JOAG|GPOA MYOC|MYOC|MYOC|NA|NA MYOC Glaucoma 1A, primary open angle Autosomal dominant 601652 137750 1 NA -FASLG|TNFSF6|APT1LG1|FASL|ALPS1B FASLG|FASLG|FASLG|NA|NA FASLG Autoimmune lymphoproliferative syndrome, type IB Autosomal dominant 134638 601859 1 NA FASLG|TNFSF6|APT1LG1|FASL|ALPS1B FASLG|FASLG|FASLG|NA|NA FASLG Lung cancer, susceptibility to Autosomal recessive 134638 211980 1 NA +FASLG|TNFSF6|APT1LG1|FASL|ALPS1B FASLG|FASLG|FASLG|NA|NA FASLG Autoimmune lymphoproliferative syndrome, type IB Autosomal dominant 134638 601859 1 NA TNFSF4|GP34|OX4OL TNFSF4|NA|NA TNFSF4 Myocardial infarction, susceptibility to None 603594 608446 1 NA DARS2|ASPRS.LBSL DARS2|NA DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Autosomal recessive 610956 611105 1 NA SERPINC1|AT3|AT3D|THPH7 SERPINC1|SERPINC1|NA|NA SERPINC1 Thrombophilia due to antithrombin III deficiency Autosomal dominant; Autosomal recessive 107300 613118 1 ~17cM distal to FY ABL2|ABLL|ARG ABL2|ABL2|ABL2,RERE RERE,ABL2 Leukemia, acute myeloid, with eosinophilia None 164690 NA 1 fused with ETV6 in AML PDCN|NPHS2|SRN1 NPHS2|NPHS2|NPHS2 NPHS2 Nephrotic syndrome, type 2 Autosomal recessive 604766 600995 1 modifies phenotype of NPHS1 mutations to FSGS +TOR1AIP1|LAP1|LAP1B|LGMD2Y TOR1AIP1|ANPEP,TRAF3|TOR1AIP1|NA TOR1AIP1,ANPEP,TRAF3 ?Muscular dystrophy, limb-girdle, type 2Y Autosomal recessive 614512 617072 1 mutation identified in 1 LGMD2Y family LHX4|CPHD4 LHX4|NA LHX4 Pituitary hormone deficiency, combined, 4 Autosomal dominant 602146 262700 1 fused to IGH in ALL XPR1|SYG1|IBGC6 XPR1|XPR1|NA XPR1 Basal ganglia calcification, idiopathic, 6 Autosomal dominant 605237 616413 1 NA GLUL|GLNS GLUL|GLUL GLUL Glutamine deficiency, congenital Autosomal recessive 138290 610015 1 pseudogene on chr.9 @@ -462,18 +467,18 @@ TSEN15|SEN15|C1orf19|PCH2F TSEN15|NA|TSEN15|NA TSEN15 Pontocerebellar hypoplasia HMCN1|FBLN6|FIBL6|ARMD1 HMCN1|HMCN1|HMCN1|HMCN1 HMCN1 Macular degeneration, age-related, 1 Autosomal dominant 608548 603075 1 NA PRG4|CACP|MSF|SZP|HAPO PRG4|PRG4|FN1,PRG4,SEPT9|PRG4|PRG4 PRG4,SEPT9,FN1 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Autosomal recessive 604283 208250 1 NA PLA2G4A|PLA2G4 PLA2G4A|PLA2G4A PLA2G4A Phospholipase A2, group IV A, deficiency of None 600522 NA 1 NA -HRPT2|C1orf28 CDC73|CDC73 CDC73 Hyperparathyroidism, familial primary Autosomal dominant 607393 145000 1 NA HRPT2|C1orf28 CDC73|CDC73 CDC73 Parathyroid carcinoma None 607393 608266 1 NA HRPT2|C1orf28 CDC73|CDC73 CDC73 Parathyroid adenoma with cystic changes Autosomal dominant 607393 145001 1 NA HRPT2|C1orf28 CDC73|CDC73 CDC73 Hyperparathyroidism-jaw tumor syndrome Autosomal dominant 607393 145001 1 NA +HRPT2|C1orf28 CDC73|CDC73 CDC73 Hyperparathyroidism, familial primary Autosomal dominant 607393 145000 1 NA +CFH|HF1|HUS|ARMD4|AHUS1 CFH|CFH|CFH|CFH|NA CFH Macular degeneration, age-related, 4 None 134370 610698 1 NA CFH|HF1|HUS|ARMD4|AHUS1 CFH|CFH|CFH|CFH|NA CFH Hemolytic uremic syndrome, atypical, susceptibility to, 1 Autosomal dominant; Autosomal recessive 134370 235400 1 NA CFH|HF1|HUS|ARMD4|AHUS1 CFH|CFH|CFH|CFH|NA CFH Complement factor H deficiency Autosomal dominant; Autosomal recessive 134370 609814 1 NA CFH|HF1|HUS|ARMD4|AHUS1 CFH|CFH|CFH|CFH|NA CFH Basal laminar drusen Autosomal dominant 134370 126700 1 NA -CFH|HF1|HUS|ARMD4|AHUS1 CFH|CFH|CFH|CFH|NA CFH Macular degeneration, age-related, 4 None 134370 610698 1 NA -CFHR3|FHR3|HLF4|CFHL3 CFHR3|CFHR3|CFHR3|CFHR3 CFHR3 Macular degeneration, age-related, reduced risk of Autosomal dominant 605336 603075 1 NA CFHR3|FHR3|HLF4|CFHL3 CFHR3|CFHR3|CFHR3|CFHR3 CFHR3 Hemolytic uremic syndrome, atypical, susceptibility to Autosomal dominant; Autosomal recessive 605336 235400 1 NA -CFHR1|FHR1|HFL1|CFHL1 CFHR1|CFHR1|CFHR1|CFHR1 CFHR1 Macular degeneration, age-related, reduced risk of Autosomal dominant 134371 603075 1 NA +CFHR3|FHR3|HLF4|CFHL3 CFHR3|CFHR3|CFHR3|CFHR3 CFHR3 Macular degeneration, age-related, reduced risk of Autosomal dominant 605336 603075 1 NA CFHR1|FHR1|HFL1|CFHL1 CFHR1|CFHR1|CFHR1|CFHR1 CFHR1 Hemolytic uremic syndrome, atypical, susceptibility to Autosomal dominant; Autosomal recessive 134371 235400 1 NA +CFHR1|FHR1|HFL1|CFHL1 CFHR1|CFHR1|CFHR1|CFHR1 CFHR1 Macular degeneration, age-related, reduced risk of Autosomal dominant 134371 603075 1 NA CFHR5|CFHL5|FHR5|CFHR5D CFHR5|CFHR5|CFHR5|NA CFHR5 Nephropathy due to CFHR5 deficiency Autosomal dominant 608593 614809 1 NA F13B F13B F13B Factor XIIIB deficiency Autosomal recessive 134580 613235 1 NA ASPM|MCPH5 ASPM|ASPM ASPM Microcephaly 5, primary, autosomal recessive Autosomal recessive 605481 608716 1 NA @@ -485,30 +490,30 @@ PTPRC|CD45|LCA PTPRC|PTPRC|GUCY2D,PTPRC GUCY2D,PTPRC Severe combined immunodefic PARK16 PARK16 PARK16 Parkinson disease 16 None 613164 613164 1 associated with rs823128 KIF14|KIAA0042|MKS12 KIF14|KIF14|NA KIF14 ?Meckel syndrome 12 Autosomal recessive 611279 616258 1 mutation identified in 1 MKS12 family DDX59|OFD5 DDX59|NA DDX59 Orofaciodigital syndrome V Autosomal recessive 615464 174300 1 NA -CACNA1S|CACNL1A3|CCHL1A3|TTPP1|HOKPP1 CACNA1S|CACNA1S|NA|NA|NA CACNA1S Thyrotoxic periodic paralysis, susceptibility to, 1 Isolated cases 114208 188580 1 in mouse, mutation causes muscular dysgenesis CACNA1S|CACNL1A3|CCHL1A3|TTPP1|HOKPP1 CACNA1S|CACNA1S|NA|NA|NA CACNA1S Malignant hyperthermia susceptibility 5 None 114208 601887 1 in mouse, mutation causes muscular dysgenesis CACNA1S|CACNL1A3|CCHL1A3|TTPP1|HOKPP1 CACNA1S|CACNA1S|NA|NA|NA CACNA1S Hypokalemic periodic paralysis, type 1 Autosomal dominant 114208 170400 1 in mouse, mutation causes muscular dysgenesis +CACNA1S|CACNL1A3|CCHL1A3|TTPP1|HOKPP1 CACNA1S|CACNA1S|NA|NA|NA CACNA1S Thyrotoxic periodic paralysis, susceptibility to, 1 Isolated cases 114208 188580 1 in mouse, mutation causes muscular dysgenesis PKP1 PKP1 PKP1 Ectodermal dysplasia/skin fragility syndrome None 601975 604536 1 NA -TNNT2|CMH2|CMD1D|RCM3|LVNC6 TNNT2|TNNT2|TNNT2|NA|NA TNNT2 Left ventricular noncompaction 6 Autosomal dominant 191045 601494 1 NA TNNT2|CMH2|CMD1D|RCM3|LVNC6 TNNT2|TNNT2|TNNT2|NA|NA TNNT2 Cardiomyopathy, hypertrophic, 2 Autosomal dominant 191045 115195 1 NA TNNT2|CMH2|CMD1D|RCM3|LVNC6 TNNT2|TNNT2|TNNT2|NA|NA TNNT2 Cardiomyopathy, familial restrictive, 3 Autosomal dominant 191045 612422 1 NA TNNT2|CMH2|CMD1D|RCM3|LVNC6 TNNT2|TNNT2|TNNT2|NA|NA TNNT2 Cardiomyopathy, dilated, 1D Autosomal dominant 191045 601494 1 NA +TNNT2|CMH2|CMD1D|RCM3|LVNC6 TNNT2|TNNT2|TNNT2|NA|NA TNNT2 Left ventricular noncompaction 6 Autosomal dominant 191045 601494 1 NA UBE2T|HSPC150|FANCT UBE2T|UBE2T|NA UBE2T Fanconi anemia, complementation group T Autosomal recessive 610538 616435 1 NA SYT2|CMS7|MYSPC SYT2|NA|NA SYT2 Myasthenic syndrome, congenital, 7, presynaptic Autosomal dominant 600104 616040 1 NA CHI3L1|GP39|YKL40|ASRT7 CHI3L1|CHI3L1|CHI3L1|NA CHI3L1 Schizophrenia, susceptibility to Autosomal dominant 601525 181500 1 NA CHI3L1|GP39|YKL40|ASRT7 CHI3L1|CHI3L1|CHI3L1|NA CHI3L1 Asthma-related traits, susceptibility to, 7 None 601525 611960 1 NA CHIT|CHITD CHIT1|NA CHIT1 Chitotriosidase deficiency Autosomal recessive 600031 614122 1 NA SNRPE|HYPT11 SNRPE|NA SNRPE Hypotrichosis 11 Autosomal dominant 128260 615059 1 NA +REN|HNFJ2 KCTD11,REN|NA KCTD11,REN Hyperuricemic nephropathy, familial juvenile 2 Autosomal dominant 179820 613092 1 ~24cM distal to AT3 REN|HNFJ2 KCTD11,REN|NA KCTD11,REN Hyperproreninemia None 179820 NA 1 ~24cM distal to AT3 REN|HNFJ2 KCTD11,REN|NA KCTD11,REN Renal tubular dysgenesis Autosomal recessive 179820 267430 1 ~24cM distal to AT3 -REN|HNFJ2 KCTD11,REN|NA KCTD11,REN Hyperuricemic nephropathy, familial juvenile 2 Autosomal dominant 179820 613092 1 ~24cM distal to AT3 KISS1|HH13 KISS1|NA KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia Autosomal recessive 603286 614842 1 mutation identified in 1 HH13 family PPP1R15B|CREP|MSSGM2 PPP1R15B|NA|NA PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2 Autosomal recessive 613257 616817 1 NA CNTN2|TAX|TAX1|FAME5 CNTN2|CNTN2|CNTN2|NA CNTN2 ?Epilepsy, myoclonic, familial adult, 5 Autosomal recessive 190197 615400 1 1 family identified with mutation DSTYK|KIAA0472|RIP5|DUSTYPK|CAKUT1 DSTYK|DSTYK|C20orf24,DSTYK|NA|NA DSTYK,C20orf24 Congenital anomalies of kidney and urinary tract, susceptibility to Autosomal dominant 612666 610805 1 NA -IL10|CSIF|GVHDS IL10|IL10|NA IL10 Graft-versus-host disease, protection against None 124092 614395 1 NA IL10|CSIF|GVHDS IL10|IL10|NA IL10 Rheumatoid arthritis, progression of None 124092 180300 1 NA IL10|CSIF|GVHDS IL10|IL10|NA IL10 HIV-1, susceptibility to None 124092 609423 1 NA +IL10|CSIF|GVHDS IL10|IL10|NA IL10 Graft-versus-host disease, protection against None 124092 614395 1 NA CD55|DAF|CROM CD55|CD55|CD55 CD55 Blood group Cromer None 125240 613793 1 NA CR2|C3DR|SLEB9|CVID7 CR2|NA|NA|NA CR2 Systemic lupus erythematosus, susceptibility to, 9 None 120650 610927 1 NA CR2|C3DR|SLEB9|CVID7 CR2|NA|NA|NA CR2 Immunodeficiency, common variable, 7 Autosomal recessive 120650 614699 1 NA @@ -539,15 +544,15 @@ USH2A|RP39 USH2A|USH2A USH2A Retinitis pigmentosa 39 None 608400 613809 1 NA TGFB2|LDS4 TGFB2|NA TGFB2 Loeys-Dietz syndrome 4 Autosomal dominant 190220 614816 1 NA SLC30A10|ZNT10|HMNDYT1 SLC30A10|NA|NA SLC30A10 Hypermanganesemia with dystonia 1 Autosomal recessive 611146 613280 1 NA IARS2|CAGSSS IARS2|NA IARS2 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Autosomal recessive 612801 616007 1 mutation identified in 1 CAGSSS family -RAB3GAP2|RAB3GAP150|p150|KIAA0839|WARBM2 RAB3GAP2|NA|ABL1,ANPEP,PIK3R4|RAB3GAP2|NA ABL1,PIK3R4,RAB3GAP2,ANPEP Warburg micro syndrome 2 Autosomal recessive 609275 614225 1 NA RAB3GAP2|RAB3GAP150|p150|KIAA0839|WARBM2 RAB3GAP2|NA|ABL1,ANPEP,PIK3R4|RAB3GAP2|NA ABL1,PIK3R4,RAB3GAP2,ANPEP Martsolf syndrome Autosomal recessive 609275 212720 1 NA +RAB3GAP2|RAB3GAP150|p150|KIAA0839|WARBM2 RAB3GAP2|NA|ABL1,ANPEP,PIK3R4|RAB3GAP2|NA ABL1,PIK3R4,RAB3GAP2,ANPEP Warburg micro syndrome 2 Autosomal recessive 609275 614225 1 NA TLR5|TIL3|SLEB1|MELIOS TLR5|TLR5|TLR5|NA TLR5 Melioidosis, susceptibility to None 603031 615557 1 NA TLR5|TIL3|SLEB1|MELIOS TLR5|TLR5|TLR5|NA TLR5 Legionaire disease, susceptibility to None 603031 608556 1 NA TLR5|TIL3|SLEB1|MELIOS TLR5|TLR5|TLR5|NA TLR5 Systemic lupus erythematosus, susceptibility to, 1 None 603031 601744 1 NA TLR5|TIL3|SLEB1|MELIOS TLR5|TLR5|TLR5|NA TLR5 Systemic lupus erythematosus, resistance to None 603031 601744 1 NA +LBR|PHA LBR|NA LBR ?Reynolds syndrome Autosomal dominant 600024 613471 1 NA LBR|PHA LBR|NA LBR Pelger-Huet anomaly Autosomal dominant 600024 169400 1 NA LBR|PHA LBR|NA LBR Greenberg skeletal dysplasia Autosomal recessive 600024 215140 1 NA -LBR|PHA LBR|NA LBR ?Reynolds syndrome Autosomal dominant 600024 613471 1 NA EPHX1 EPHX1 EPHX1 Preeclampsia, susceptibility to Autosomal dominant 132810 189800 1 NA EPHX1 EPHX1 EPHX1 Hypercholanemia, familial None 132810 607748 1 NA EPHX1 EPHX1 EPHX1 Diphenylhydantoin toxicity None 132810 NA 1 NA @@ -557,21 +562,21 @@ EBAF|TGFB4|LEFTY2|LEFTA|LEFTYA LEFTY2|LEFTY2|LEFTY2|LEFTY2|LEFTY2 LEFTY2 Left-ri PSEN2|AD4|STM2|CMD1V PSEN2|PSEN2|PSEN2|NA PSEN2 Cardiomyopathy, dilated, 1V Autosomal dominant 600759 613697 1 NA PSEN2|AD4|STM2|CMD1V PSEN2|PSEN2|PSEN2|NA PSEN2 Alzheimer disease-4 Autosomal dominant 600759 606889 1 NA ADCK3|COQ8|CABC1|SCAR9|ARCA2|COQ10D4 ADCK3|ADCK3,ADCK4|ADCK3|ADCK3|NA|NA ADCK4,ADCK3 Coenzyme Q10 deficiency, primary, 4 Autosomal recessive 606980 612016 1 NA +GJC2|GJA12|CX47|PMLDAR|HLD2|SPG44|LMPH1C GJC2|GJC2|GJC2|NA|NA|GJC2|NA GJC2 Spastic paraplegia 44, autosomal recessive Autosomal recessive 608803 613206 1 NA GJC2|GJA12|CX47|PMLDAR|HLD2|SPG44|LMPH1C GJC2|GJC2|GJC2|NA|NA|GJC2|NA GJC2 Lymphedema, hereditary, IC Autosomal dominant 608803 613480 1 NA GJC2|GJA12|CX47|PMLDAR|HLD2|SPG44|LMPH1C GJC2|GJC2|GJC2|NA|NA|GJC2|NA GJC2 Leukodystrophy, hypomyelinating, 2 Autosomal recessive 608803 608804 1 NA -GJC2|GJA12|CX47|PMLDAR|HLD2|SPG44|LMPH1C GJC2|GJC2|GJC2|NA|NA|GJC2|NA GJC2 Spastic paraplegia 44, autosomal recessive Autosomal recessive 608803 613206 1 NA -IBA57|C1orf69|MMDS3|SPG74 IBA57|IBA57|NA|NA IBA57 ?Multiple mitochondrial dysfunctions syndrome 3 Autosomal recessive 615316 615330 1 mutation identified in 1 MMDS3 family and 1 SPG74 family IBA57|C1orf69|MMDS3|SPG74 IBA57|IBA57|NA|NA IBA57 ?Spastic paraplegia 74, autosomal recessive Autosomal recessive 615316 616451 1 mutation identified in 1 MMDS3 family and 1 SPG74 family +IBA57|C1orf69|MMDS3|SPG74 IBA57|IBA57|NA|NA IBA57 ?Multiple mitochondrial dysfunctions syndrome 3 Autosomal recessive 615316 615330 1 mutation identified in 1 MMDS3 family and 1 SPG74 family +ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Nemaline myopathy 3, autosomal dominant or recessive Autosomal dominant; Autosomal recessive 102610 161800 1 mutation identified in 1 SHPM family +ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Myopathy, congenital, with fiber-type disproportion 1 Autosomal dominant; Autosomal recessive 102610 255310 1 mutation identified in 1 SHPM family ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Myopathy, actin, congenital, with excess of thin myofilaments Autosomal dominant; Autosomal recessive 102610 161800 1 mutation identified in 1 SHPM family ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Myopathy, actin, congenital, with cores Autosomal dominant; Autosomal recessive 102610 161800 1 mutation identified in 1 SHPM family ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 ?Myopathy, scapulohumeroperoneal Autosomal dominant 102610 616852 1 mutation identified in 1 SHPM family -ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Nemaline myopathy 3, autosomal dominant or recessive Autosomal dominant; Autosomal recessive 102610 161800 1 mutation identified in 1 SHPM family -ACTA1|ASMA|NEM3|CFTD1|SHPM ACTA1|NA|ACTA1|NA|NA ACTA1 Myopathy, congenital, with fiber-type disproportion 1 Autosomal dominant; Autosomal recessive 102610 255310 1 mutation identified in 1 SHPM family PCAP PCAP,CSAD PCAP,CSAD Prostate cancer, susceptibility to Autosomal dominant 602759 176807 1 NA AGT|SERPINA8 AGT,AGXT|AGT AGT,AGXT Preeclampsia, susceptibility to None 106150 NA 1 NA AGT|SERPINA8 AGT,AGXT|AGT AGT,AGXT Hypertension, essential, susceptibility to Multifactorial 106150 145500 1 NA AGT|SERPINA8 AGT,AGXT|AGT AGT,AGXT Renal tubular dysgenesis Autosomal recessive 106150 267430 1 NA -ARV1|EIEE38 ARV1|NA ARV1 Epileptic encephalopathy, early infantile, 38 None 611647 617020 1 NA +ARV1|EIEE38 ARV1|NA ARV1 Epileptic encephalopathy, early infantile, 38 Autosomal recessive 611647 617020 1 NA GNPAT|DHAPAT|RCDP2 GNPAT|GNPAT|NA GNPAT Rhizomelic chondrodysplasia punctata, type 2 Autosomal recessive 602744 222765 1 NA SPRTN|DVC1|C1orf124|RJALS SPRTN|SPRTN|SPRTN|NA SPRTN Ruijs-Aalfs syndrome Autosomal recessive 616086 616200 1 NA EGLN1|PHD2|HIFPH2|C1orf12|ZMYND6|SM20|ECYT3|HALAH EGLN1|EGLN1|EGLN1|EGLN1|EGLN1|NA|NA|NA EGLN1 Hemoglobin, high altitude adaptation Autosomal dominant 606425 609070 1 NA @@ -584,27 +589,27 @@ TBCE|KCS|KCS1|HRD TBCE|TBCE|TBCE|TBCE TBCE Kenny-Caffey syndrome, type 1 Autosom TBCE|KCS|KCS1|HRD TBCE|TBCE|TBCE|TBCE TBCE Hypoparathyroidism-retardation-dysmorphism syndrome Autosomal recessive 604934 241410 1 NA B3GALNT2|MGC39558|MDDGA11 B3GALNT2|B3GALNT2|NA B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 Autosomal recessive 610194 615181 1 NA LYST|CHS1 LYST|LYST,VPS13B LYST,VPS13B Chediak-Higashi syndrome Autosomal recessive 606897 214500 1 NA -EDARADD|ED3|EDA3|ECTD11B|ECTD11A EDARADD|EDAR|EDAR|NA|NA EDARADD,EDAR Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive None 606603 614941 1 NA -EDARADD|ED3|EDA3|ECTD11B|ECTD11A EDARADD|EDAR|EDAR|NA|NA EDARADD,EDAR Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant None 606603 614940 1 NA -DFNB45 DFNB45 DFNB45 Deafness, autosomal recessive 45 None 612433 612433 1 between D1S547 and D1S2836 +EDARADD|ED3|EDA3|ECTD11B|ECTD11A EDARADD|EDAR|EDAR|NA|NA EDARADD,EDAR Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Autosomal recessive 606603 614941 1 NA +EDARADD|ED3|EDA3|ECTD11B|ECTD11A EDARADD|EDAR|EDAR|NA|NA EDARADD,EDAR Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Autosomal dominant 606603 614940 1 NA +DFNB45 DFNB45 DFNB45 Deafness, autosomal recessive 45 Autosomal recessive 612433 612433 1 between D1S547 and D1S2836 ACTN2|CMD1AA|CMH23 ACTN2|NA|NA ACTN2 Cardiomyopathy, hypertrophic, 23, with or without LVNC Autosomal dominant 102573 612158 1 NA ACTN2|CMD1AA|CMH23 ACTN2|NA|NA ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC Autosomal dominant 102573 612158 1 NA -MTR|HMAG MTR|NA MTR Homocystinuria-megaloblastic anemia, cblG complementation type Autosomal recessive 156570 250940 1 NA MTR|HMAG MTR|NA MTR Neural tube defects, folate-sensitive, susceptibility to Autosomal recessive 156570 601634 1 NA -RYR2|VTSIP|ARVD2|ARVC2 RYR2|RYR2|RYR2|RYR2 RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1 Autosomal dominant 180902 604772 1 NA +MTR|HMAG MTR|NA MTR Homocystinuria-megaloblastic anemia, cblG complementation type Autosomal recessive 156570 250940 1 NA RYR2|VTSIP|ARVD2|ARVC2 RYR2|RYR2|RYR2|RYR2 RYR2 Arrhythmogenic right ventricular dysplasia 2 Autosomal dominant 180902 600996 1 NA +RYR2|VTSIP|ARVD2|ARVC2 RYR2|RYR2|RYR2|RYR2 RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1 Autosomal dominant 180902 604772 1 NA CHRM3|PBS|EGBRS CHRM3|NA|NA CHRM3 ?Prune belly syndrome Autosomal recessive 118494 100100 1 mutation identified in 1 PBS family FMN2|MRT47 FMN2|NA FMN2 Mental retardation, autosomal recessive 47 Autosomal recessive 606373 616193 1 NA FH|HLRCC|MCUL1|FMRD FH|NA|NA|NA FH Leiomyomatosis and renal cell cancer Autosomal dominant 136850 150800 1 NA FH|HLRCC|MCUL1|FMRD FH|NA|NA|NA FH Fumarase deficiency Autosomal recessive 136850 606812 1 NA -SDCCAG8|CCCAP|SLSN7|BBS16 SDCCAG8|SDCCAG8|SDCCAG8|SDCCAG8 SDCCAG8 Senior-Loken syndrome 7 None 613524 613615 1 NA SDCCAG8|CCCAP|SLSN7|BBS16 SDCCAG8|SDCCAG8|SDCCAG8|SDCCAG8 SDCCAG8 Bardet-Biedl syndrome 16 Autosomal recessive 613524 615993 1 NA +SDCCAG8|CCCAP|SLSN7|BBS16 SDCCAG8|SDCCAG8|SDCCAG8|SDCCAG8 SDCCAG8 Senior-Loken syndrome 7 None 613524 613615 1 NA AKT3|PKBG|MPPH2 AKT3|AKT3|NA AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Autosomal dominant 611223 615937 1 NA ZBTB18|ZNF238|RP58|MRD22 ZBTB18|ZBTB18|ZBTB18,ZNF513|NA ZNF513,ZBTB18 ?Mental retardation, autosomal dominant 22 Autosomal dominant 608433 612337 1 mutation identified in 1 family COX20|FAM36A COX20|COX20 COX20 Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 614698 220110 1 NA +NLRP3|CIAS1|FCU|FCAS1|NALP3|PYPAF1 NLRP3|NLRP3|NLRP3|NA|NLRP3|NLRP3 NLRP3 CINCA syndrome None 606416 607115 1 NA NLRP3|CIAS1|FCU|FCAS1|NALP3|PYPAF1 NLRP3|NLRP3|NLRP3|NA|NLRP3|NLRP3 NLRP3 Muckle-Wells syndrome Autosomal dominant 606416 191900 1 NA NLRP3|CIAS1|FCU|FCAS1|NALP3|PYPAF1 NLRP3|NLRP3|NLRP3|NA|NLRP3|NLRP3 NLRP3 Familial cold-induced inflammatory syndrome 1 Autosomal dominant 606416 120100 1 NA -NLRP3|CIAS1|FCU|FCAS1|NALP3|PYPAF1 NLRP3|NLRP3|NLRP3|NA|NLRP3|NLRP3 NLRP3 CINCA syndrome None 606416 607115 1 NA ETM2|ETM ETM2|ETM2 ETM2 Tremor, hereditary essential, 2 Autosomal dominant 602134 602134 2 max lod at D2S272 TPO|TPX|TDH2A THPO,TPO|TPO|NA TPO,THPO Thyroid dyshormonogenesis 2A Autosomal recessive 606765 274500 2 NA PXDN|D2S448E|KIAA0230|PRG2|PXN|COPOA PXDN|PXDN|PXDN|PRG2,PXDN|PXDN,PXN|NA PRG2,PXDN,PXN Corneal opacification and other ocular anomalies Autosomal recessive 605158 269400 2 NA @@ -612,7 +617,7 @@ MYT1L|KIAA1106|MRD39 MYT1L|MYT1L|NA MYT1L Mental retardation, autosomal dominant RNASEH1|PEOB2 RNASEH1,RNASEH1P1|NA RNASEH1,RNASEH1P1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Autosomal recessive 604123 616479 2 pseudogenes on chr. 17 and chr.1 RPS7|DBA8 RPS7|NA RPS7 Diamond-Blackfan anemia 8 None 603658 612563 2 NA COLEC11|CLK1|3MC2 COLEC11|CLK1|NA CLK1,COLEC11 3MC syndrome 2 Autosomal recessive 612502 265050 2 NA -SOX11|MRD27 SOX11|NA SOX11 Mental retardation, autosomal dominant, 27 None 600898 615866 2 NA +SOX11|MRD27 SOX11|NA SOX11 Mental retardation, autosomal dominant, 27 Autosomal dominant 600898 615866 2 NA DFNB47 DFNB47 DFNB47 Deafness, neurosensory, autosomal recessive 47 Autosomal recessive 609946 609946 2 max lod at D2S1400 and D2S262 ADAM17|TACE|NISBD1 ADAM17|ADAM17|NA ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1 Autosomal recessive 603639 614328 2 mutation identified in 1 NISBD1 family KLF11|TIEG2|FKLF1|FKLF|MODY7 KLF11|KLF11|NA|NA|KLF11 KLF11 Maturity-onset diabetes of the young, type VII None 603301 610508 2 NA @@ -623,25 +628,25 @@ NBAS|NAG|SOPH|ILFS2 NBAS|NAGLU,NBAS|NA|NA NAGLU,NBAS Infantile liver failure syn MYCN|NMYC|ODED|MODED MYCN|MYCN|NA|NA MYCN Feingold syndrome Autosomal dominant 164840 164280 2 proximal to APOB WDR35|NAOFEN|KIAA1336|CED2|SRTD7 WDR35|NA|WDR35|NA|NA WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly Autosomal recessive 613602 614091 2 NA WDR35|NAOFEN|KIAA1336|CED2|SRTD7 WDR35|NA|WDR35|NA|NA WDR35 Cranioectodermal dysplasia 2 Autosomal recessive 613602 613610 2 NA +MATN3|EDM5|HOA|OS2 MATN3|MATN3|MATN3|NA MATN3 Osteoarthritis susceptibility 2 Autosomal dominant 602109 140600 2 NA MATN3|EDM5|HOA|OS2 MATN3|MATN3|MATN3|NA MATN3 Spondyloepimetaphyseal dysplasia Autosomal recessive 602109 608728 2 NA MATN3|EDM5|HOA|OS2 MATN3|MATN3|MATN3|NA MATN3 Epiphyseal dysplasia, multiple, 5 Autosomal dominant 602109 607078 2 NA -MATN3|EDM5|HOA|OS2 MATN3|MATN3|MATN3|NA MATN3 Osteoarthritis susceptibility 2 Autosomal dominant 602109 140600 2 NA -APOB|FLDB|LDLCQ4 APOB|NA|NA APOB Hypobetalipoproteinemia Autosomal recessive 107730 615558 2 1 gene for liver apo-B100 and gut apo-B48; Ag linked APOB|FLDB|LDLCQ4 APOB|NA|NA APOB Hypercholesterolemia, due to ligand-defective apo B Autosomal dominant 107730 144010 2 1 gene for liver apo-B100 and gut apo-B48; Ag linked +APOB|FLDB|LDLCQ4 APOB|NA|NA APOB Hypobetalipoproteinemia Autosomal recessive 107730 615558 2 1 gene for liver apo-B100 and gut apo-B48; Ag linked GINGF3|HGF3|GGF3 GINGF3|NA|NA GINGF3 Fibromatosis, gingival, 3 None 609955 609955 2 between D2S2221 and D2S1788 POMC POMC POMC Obesity, early-onset, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 176830 601665 2 NA POMC POMC POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency None 176830 609734 2 NA DNMT3A|TBRS DNMT3A|NA DNMT3A Tatton-Brown-Rahman syndrome Autosomal dominant 602769 615879 2 NA -HADHA|MTPA HADHA|HADHA HADHA Fatty liver, acute, of pregnancy None 600890 609016 2 NA -HADHA|MTPA HADHA|HADHA HADHA Trifunctional protein deficiency Autosomal recessive 600890 609015 2 NA HADHA|MTPA HADHA|HADHA HADHA LCHAD deficiency None 600890 609016 2 NA HADHA|MTPA HADHA|HADHA HADHA HELLP syndrome, maternal, of pregnancy None 600890 609016 2 NA +HADHA|MTPA HADHA|HADHA HADHA Fatty liver, acute, of pregnancy None 600890 609016 2 NA +HADHA|MTPA HADHA|HADHA HADHA Trifunctional protein deficiency Autosomal recessive 600890 609015 2 NA HADHB HADHB HADHB Trifunctional protein deficiency Autosomal recessive 143450 609015 2 NA DRC1|CCDC164|C2orf39|CILD21 DRC1|DRC1|DRC1|DRC1 DRC1 Ciliary dyskinesia, primary, 21 Autosomal recessive 615288 615294 2 NA OTOF|DFNB9|NSRD9|AUNB1 OTOF|OTOF|NA|NA OTOF Deafness, autosomal recessive 9 Autosomal recessive 603681 601071 2 symbolized DFNB6 by authors OTOF|DFNB9|NSRD9|AUNB1 OTOF|OTOF|NA|NA OTOF Auditory neuropathy, autosomal recessive, 1 Autosomal recessive 603681 601071 2 symbolized DFNB6 by authors KCNK3|TASK|PPH4 KCNK3|KCNK3|NA KCNK3 Pulmonary hypertension, primary, 4 Autosomal dominant 603220 615344 2 NA -AGBL5|CCP5|RP75 AGBL5|AGBL5|NA AGBL5 Retinitis pigmentosa 75 None 615900 617023 2 NA +AGBL5|CCP5|RP75 AGBL5|AGBL5|NA AGBL5 Retinitis pigmentosa 75 Autosomal recessive 615900 617023 2 NA KHK KHK KHK Fructosuria Autosomal recessive 614058 229800 2 NA CAD|CDG1Z CAD,DFFB|NA DFFB,CAD ?Congenital disorder of glycosylation, type Iz Autosomal recessive 114010 616457 2 mutation identified in 1 CDG1Z family MPV17|MTDPS6 MPV17|NA MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Autosomal recessive 137960 256810 2 NA @@ -653,24 +658,25 @@ IFT172|SLB|KIAA1179|SRTD10|RP71 IFT172|IFT172|NA|NA|NA IFT172 Retinitis pigmento GCKR|GKRP|FGQTL5 GCKR,MAP4K5|NA|NA MAP4K5,GCKR Fasting plasma glucose level QTL 5 None 600842 613463 2 NA C2orf71 C2orf71 C2orf71 Retinitis pigmentosa 54 None 613425 613428 2 NA ALK|NBLST3 ALK|NA ALK Neuroblastoma, susceptibility to, 3 None 105590 613014 2 NA -XDH XDH XDH Xanthinuria, type I Autosomal recessive 607633 278300 2 NA +XDH|XAN1 XDH|NA XDH Xanthinuria, type I Autosomal recessive 607633 278300 2 NA SRD5A2 SRD5A2 SRD5A2 Pseudovaginal perineoscrotal hypospadias Autosomal recessive 607306 264600 2 NA SPAST|SPG4 SPAST|SPAST SPAST Spastic paraplegia 4, autosomal dominant Autosomal dominant 604277 182601 2 NA -NLRC4|CARD12|CLAN|IPAF|AIFEC|FCAS4 NLRC4|NLRC4|NLRC4|NA|NA|NA NLRC4 ?Familial cold autoinflammatory syndrome 4 Autosomal dominant 606831 616115 2 mutation identified in 1 FCAS4 family NLRC4|CARD12|CLAN|IPAF|AIFEC|FCAS4 NLRC4|NLRC4|NLRC4|NA|NA|NA NLRC4 Autoinflammation with infantile enterocolitis Autosomal dominant 606831 616050 2 mutation identified in 1 FCAS4 family +NLRC4|CARD12|CLAN|IPAF|AIFEC|FCAS4 NLRC4|NLRC4|NLRC4|NA|NA|NA NLRC4 ?Familial cold autoinflammatory syndrome 4 Autosomal dominant 606831 616115 2 mutation identified in 1 FCAS4 family CYP1B1|GLC3A CYP1B1|CYP1B1 CYP1B1 Peters anomaly None 601771 604229 2 NA CYP1B1|GLC3A CYP1B1|CYP1B1 CYP1B1 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset Autosomal recessive 601771 231300 2 NA -SOS1|GINGF|GF1|HGF|NS4 SOS1|SOS1|GATA1,SOS1|HGF,IL6,SOS1|NA HGF,IL6,SOS1,GATA1 Noonan syndrome 4 Autosomal dominant 182530 610733 2 mutation identified in 1 GINGF1 family SOS1|GINGF|GF1|HGF|NS4 SOS1|SOS1|GATA1,SOS1|HGF,IL6,SOS1|NA HGF,IL6,SOS1,GATA1 ?Fibromatosis, gingival, 1 Autosomal dominant 182530 135300 2 mutation identified in 1 GINGF1 family +SOS1|GINGF|GF1|HGF|NS4 SOS1|SOS1|GATA1,SOS1|HGF,IL6,SOS1|NA HGF,IL6,SOS1,GATA1 Noonan syndrome 4 Autosomal dominant 182530 610733 2 mutation identified in 1 GINGF1 family DFNA58 DFNA58 DFNA58 Deafness, autosomal dominant 58 Autosomal dominant 615654 615654 2 between D2S2259 and D2S2114 SCA25 SCA25 SCA25 Spinocerebellar ataxia 25 Autosomal dominant 608703 608703 2 NA +DYNC2LI1|D2LIC|LIC3|SRTD15 DYNC2LI1|DYNC2LI1|DYNC2LI1|NA DYNC2LI1 Short-rib throacic dysplasia 15 with polydactyly Autosomal recessive 617083 617088 2 NA ABCG5 ABCG5 ABCG5 Sitosterolemia Autosomal recessive 605459 210250 2 NA -ABCG8|GBD4 ABCG8|ABCG8 ABCG8 Sitosterolemia Autosomal recessive 605460 210250 2 NA ABCG8|GBD4 ABCG8|ABCG8 ABCG8 Gallbladder disease 4 None 605460 611465 2 NA +ABCG8|GBD4 ABCG8|ABCG8 ABCG8 Sitosterolemia Autosomal recessive 605460 210250 2 NA LRPPRC|LRP130|LSFC LRPPRC|LRPPRC|LRPPRC LRPPRC Leigh syndrome, French-Canadian type Autosomal recessive 607544 220111 2 NA SLC3A1|ATR1|D2H|NBAT SLC3A1|SLC3A1|SLC3A1|SLC3A1 SLC3A1 Cystinuria Autosomal dominant; Autosomal recessive 104614 220100 2 NA -SIX3|HPE2 SIX3|SIX3 SIX3 Holoprosencephaly 2 Autosomal dominant; Isolated cases 603714 157170 2 NA SIX3|HPE2 SIX3|SIX3 SIX3 Schizencephaly None 603714 269160 2 NA +SIX3|HPE2 SIX3|SIX3 SIX3 Holoprosencephaly 2 Autosomal dominant; Isolated cases 603714 157170 2 NA EPAS1|MOP2|HIF2A|ECYT4 EPAS1|EPAS1|EPAS1|NA EPAS1 Erythrocytosis, familial, 4 None 603349 611783 2 NA CRIPT|SSMDF CRIPT|NA CRIPT Short stature with microcephaly and distinctive facies Autosomal recessive 604594 615789 2 NA MCFD2|F5F8D2 MCFD2|NA MCFD2 Factor V and factor VIII, combined deficiency of None 607788 613625 2 NA @@ -684,30 +690,32 @@ MSH2|COCA1|FCC1|HNPCC1 MSH2|MSH2|NA|MSH2 MSH2 Colorectal cancer, hereditary nonp CNC2 CNC2 CNC2 Carney complex, type II None 605244 605244 2 NA DYX3 DYX3 DYX3 Dyslexia, susceptibility to, 3 None 604254 604254 2 NA GLC1H GLC1H GLC1H Glaucoma 1, open angle, H None 611276 611276 2 between D2S123 AND D2S2165 -MSH6|GTBP|HNPCC5 MSH6|MSH6|NA MSH6 Mismatch repair cancer syndrome Autosomal recessive 600678 276300 2 0.5 Mb from MSH2 MSH6|GTBP|HNPCC5 MSH6|MSH6|NA MSH6 Endometrial cancer, familial None 600678 608089 2 0.5 Mb from MSH2 MSH6|GTBP|HNPCC5 MSH6|MSH6|NA MSH6 Colorectal cancer, hereditary nonpolyposis, type 5 Autosomal dominant 600678 614350 2 0.5 Mb from MSH2 +MSH6|GTBP|HNPCC5 MSH6|MSH6|NA MSH6 Mismatch repair cancer syndrome Autosomal recessive 600678 276300 2 0.5 Mb from MSH2 +LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism Autosomal recessive 152790 238320 2 NA +LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Leydig cell adenoma, somatic, with precocious puberty None 152790 176410 2 NA LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Precocious puberty, male Autosomal dominant 152790 176410 2 NA LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Luteinizing hormone resistance, female Autosomal recessive 152790 238320 2 NA LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Leydig cell hypoplasia with pseudohermaphroditism Autosomal recessive 152790 238320 2 NA -LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism Autosomal recessive 152790 238320 2 NA -LHCGR|LHR|LCGR LHCGR|LHCGR|LHCGR LHCGR Leydig cell adenoma, somatic, with precocious puberty None 152790 176410 2 NA -FSHR|ODG1 FSHR|FSHR FSHR Ovarian response to FSH stimulation Autosomal recessive 136435 276400 2 NA FSHR|ODG1 FSHR|FSHR FSHR Ovarian hyperstimulation syndrome Autosomal dominant 136435 608115 2 NA FSHR|ODG1 FSHR|FSHR FSHR Ovarian dysgenesis 1 Autosomal recessive 136435 233300 2 NA +FSHR|ODG1 FSHR|FSHR FSHR Ovarian response to FSH stimulation Autosomal recessive 136435 276400 2 NA NRXN1|PTHSL2|SCZD17 NRXN1|NA|NA NRXN1 Schizophrenia, susceptibility to, 17 None 600565 614332 2 NA NRXN1|PTHSL2|SCZD17 NRXN1|NA|NA NRXN1 Pitt-Hopkins-like syndrome 2 Autosomal recessive 600565 614325 2 NA HBFQTL5 BCL11A BCL11A Fetal hemoglobin QTL5 Autosomal dominant 142335 142335 2 associated with rs11886868 -PNPT1|OLD35|COXPD13|DFNB70 PNPT1|PNPT1|NA|PNPT1 PNPT1 Deafness, autosomal recessive 70 Autosomal recessive 610316 614934 2 NA +CCDC88A|KIAA1212|HKRP1|GIRDIN|APE|GIV|PEHO CCDC88A|CCDC88A|NA|NA|APEX1,CCDC88A|CCDC88A|NA APEX1,CCDC88A PEHO syndrome Autosomal recessive 609736 260565 2 mutation identified in 1 PEHO family PNPT1|OLD35|COXPD13|DFNB70 PNPT1|PNPT1|NA|PNPT1 PNPT1 Combined oxidative phosphorylation deficiency 13 Autosomal recessive 610316 614932 2 NA +PNPT1|OLD35|COXPD13|DFNB70 PNPT1|PNPT1|NA|PNPT1 PNPT1 Deafness, autosomal recessive 70 Autosomal recessive 610316 614934 2 NA EFEMP1|FBNL|DHRD EFEMP1|EFEMP1|EFEMP1 EFEMP1 Doyne honeycomb degeneration of retina Autosomal dominant 601548 126600 2 NA PHF9|FANCL FANCL|FANCL FANCL Fanconi anemia, complementation group L Autosomal recessive 608111 614083 2 NA -PEX13|ZWS|NALD|PBD11A|PBD11B PEX13|PEX1|NA|NA|NA PEX1,PEX13 Peroxisome biogenesis disorder 11A (Zellweger) None 601789 614883 2 NA +BCL11A|CTIP1|EVI9|KIAA1809|DILOS BCL11A|BCL11A|BCL11A|NA|NA BCL11A Dias-Logan syndrome Autosomal dominant 606557 617101 2 NA PEX13|ZWS|NALD|PBD11A|PBD11B PEX13|PEX1|NA|NA|NA PEX1,PEX13 Peroxisome biogenesis disorder 11B None 601789 614885 2 NA +PEX13|ZWS|NALD|PBD11A|PBD11B PEX13|PEX1|NA|NA|NA PEX1,PEX13 Peroxisome biogenesis disorder 11A (Zellweger) None 601789 614883 2 NA FAM161A|RP28 FAM161A|FAM161A FAM161A Retinitis pigmentosa 28 None 613596 606068 2 NA EHBP1|KIAA0903|HPC12 EHBP1|EHBP1|NA EHBP1 Prostate cancer, hereditary, 12 None 609922 611868 2 NA -WDPCP|C2orf86|BBS15|CHDTHP WDPCP|WDPCP|WDPCP|NA WDPCP ?Congenital heart defects, hamartomas of tongue, and polysyndactyly Autosomal recessive 613580 217085 2 mutation identified in 1 BBS15 family and 1 CHDTHP patient WDPCP|C2orf86|BBS15|CHDTHP WDPCP|WDPCP|WDPCP|NA WDPCP ?Bardet-Biedl syndrome 15 Autosomal recessive 613580 615992 2 mutation identified in 1 BBS15 family and 1 CHDTHP patient +WDPCP|C2orf86|BBS15|CHDTHP WDPCP|WDPCP|WDPCP|NA WDPCP ?Congenital heart defects, hamartomas of tongue, and polysyndactyly Autosomal recessive 613580 217085 2 mutation identified in 1 BBS15 family and 1 CHDTHP patient SLC1A4|SATT|ASCT1|SPATCCM SLC1A4|SLC1A4|SLC1A4|NA SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Autosomal recessive 600229 616657 2 NA OFC2 OFC2 OFC2 Orofacial cleft-2 None 602966 602966 2 ?relation to TGFA PARK3 PARK3 PARK3 Parkinson disease 3 None 602404 602404 2 NA @@ -721,19 +729,21 @@ FIGLA|POF6 FIGLA|NA FIGLA Premature ovarian failure 6 None 608697 612310 2 NA CD207|LANGERIN|CLEC4K CD207|NA|CD207 CD207 ?Birbeck granule deficiency None 604862 613393 2 mutation identified in 1 patient ATP6B1|VPP3 ATP6V1B1|ATP6V1B1,ATP6V1B2 ATP6V1B1,ATP6V1B2 Renal tubular acidosis with deafness Autosomal recessive 192132 267300 2 NA MCEE MCEE MCEE Methylmalonyl-CoA epimerase deficiency Autosomal recessive 608419 251120 2 NA +DYSF|LGMD2B|MMD1 DYSF|DYSF|NA DYSF Myopathy, distal, with anterior tibial onset Autosomal recessive 603009 606768 2 NA DYSF|LGMD2B|MMD1 DYSF|DYSF|NA DYSF Muscular dystrophy, limb-girdle, type 2B Autosomal recessive 603009 253601 2 NA DYSF|LGMD2B|MMD1 DYSF|DYSF|NA DYSF Miyoshi muscular dystrophy 1 Autosomal recessive 603009 254130 2 NA -DYSF|LGMD2B|MMD1 DYSF|DYSF|NA DYSF Myopathy, distal, with anterior tibial onset Autosomal recessive 603009 606768 2 NA CYP26B1|CYP26A2|P450RAI2|RHFCA CYP26B1|NA|NA|NA CYP26B1 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies None 605207 614416 2 NA -SPR SPR,TACR1 SPR,TACR1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency Autosomal recessive; ?Autosomal dominant 182125 612716 2 NA +SPR SPR,TACR1 SPR,TACR1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency ?Autosomal dominant; Autosomal recessive 182125 612716 2 NA ALMS1|ALSS|KIAA0328 ALMS1|NA|ALMS1 ALMS1 Alstrom syndrome Autosomal recessive 606844 203800 2 NA STAMBP|AMSH|MICCAP STAMBP|STAMBP|NA STAMBP Microcephaly-capillary malformation syndrome Autosomal recessive 606247 614261 2 NA ACTG2|ACTA3|VSCM ACTG2|ACTG2|NA ACTG2 Visceral myopathy Autosomal dominant 102545 155310 2 NA -DGUOK|DGK|MTDPS3 DGUOK|DGKB,DGKE|NA DGKB,DGKE,DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Autosomal recessive 601465 251880 2 NA +DGUOK|DGK|MTDPS3|PEOB4|NCPH DGUOK|DGKB,DGKE|NA|NA|NA DGKB,DGKE,DGUOK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Autosomal recessive 601465 617070 2 NA +DGUOK|DGK|MTDPS3|PEOB4|NCPH DGUOK|DGKB,DGKE|NA|NA|NA DGKB,DGKE,DGUOK Portal hypertension, noncirrhotic Autosomal recessive 601465 617068 2 NA +DGUOK|DGK|MTDPS3|PEOB4|NCPH DGUOK|DGKB,DGKE|NA|NA|NA DGKB,DGKE,DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Autosomal recessive 601465 251880 2 NA BOLA3|MMDS2 BOLA3|NA BOLA3 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia Autosomal recessive 613183 614299 2 NA -DCTN1|HMN7B DCTN1|NA DCTN1 Neuropathy, distal hereditary motor, type VIIB Autosomal dominant 601143 607641 2 NA DCTN1|HMN7B DCTN1|NA DCTN1 Amyotrophic lateral sclerosis, susceptibility to Autosomal dominant; Autosomal recessive 601143 105400 2 NA DCTN1|HMN7B DCTN1|NA DCTN1 Perry syndrome Autosomal dominant 601143 168605 2 NA +DCTN1|HMN7B DCTN1|NA DCTN1 Neuropathy, distal hereditary motor, type VIIB Autosomal dominant 601143 607641 2 NA MOGS|GCS1|CDG2B MOGS|MOGS|NA MOGS Congenital disorder of glycosylation, type IIb Autosomal recessive 601336 606056 2 NA HTRA2|OMI|PARK13|PRSS25 HTRA2|HTRA2|HTRA2|HTRA2 HTRA2 Parkinson disease 13 None 606441 610297 2 NA CTRCT27|CCNP NA|CNTD2 CNTD2 Cataract 27, nuclear progressive None 607304 607304 2 near D2S2333 @@ -743,7 +753,7 @@ ELMOD3|RBED1|DFNB88 ELMOD3|ELMOD3|ELMOD3 ELMOD3 ?Deafness, autosomal recessive 8 GGCX|VKCFD1 GGCX|GGCX GGCX Vitamin K-dependent clotting factors, combined deficiency of, 1 Autosomal recessive 137167 277450 2 NA GGCX|VKCFD1 GGCX|GGCX GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency None 137167 610842 2 NA SFTPB|SFTB3|SMDP1 SFTPB|NA|NA SFTPB Surfactant metabolism dysfunction, pulmonary, 1 Autosomal recessive 178640 265120 2 NA -SIAT9|ST3GALV ST3GAL5|NA ST3GAL5 Amish infantile epilepsy syndrome Autosomal recessive 604402 609056 2 NA +SIAT9|ST3GALV|SPDRS ST3GAL5|NA|NA ST3GAL5 Salt and pepper developmental regression syndrome Autosomal recessive 604402 609056 2 NA POLR1A|RPA194|AFDCIN POLR1A|NA|NA POLR1A Acrofacial dysostosis, Cincinnati type Autosomal dominant 616404 616462 2 NA REEP1|C2ORF23|SPG31|HMN5B REEP1|NA|REEP1|NA REEP1 Spastic paraplegia 31, autosomal dominant Autosomal dominant 609139 610250 2 mutation identified in 1 HMN5B family REEP1|C2ORF23|SPG31|HMN5B REEP1|NA|REEP1|NA REEP1 ?Neuronopathy, distal hereditary motor, type VB Autosomal dominant 609139 614751 2 mutation identified in 1 HMN5B family @@ -758,8 +768,8 @@ TMEM127 TMEM127 TMEM127 Pheochromocytoma, susceptibility to Autosomal dominant 6 SNRNP200|ASCC3L1|KIAA0788|RP33 SNRNP200|SNRNP200|SNRNP200|SNRNP200 SNRNP200 Retinitis pigmentosa 33 Autosomal dominant 601664 610359 2 NA LMAN2L|VIPL|MRT52 LMAN2L|LMAN2L|NA LMAN2L ?Mental retardation, autosomal recessive, 52 Autosomal recessive 609552 616887 2 mutation identified in 1 MRT52 family CNNM4|ACDP4 CNNM4|CNNM4 CNNM4 Jalili syndrome Autosomal recessive 607805 217080 2 NA -ZAP70|SRK|ADMIO2|IMD48 ZAP70|ZAP70|NA|NA ZAP70 Immunodeficiency 48 Autosomal recessive 176947 269840 2 NA ZAP70|SRK|ADMIO2|IMD48 ZAP70|ZAP70|NA|NA ZAP70 Autoimmune disease, multisystem, infantile-onset, 2 Autosomal recessive 176947 617006 2 NA +ZAP70|SRK|ADMIO2|IMD48 ZAP70|ZAP70|NA|NA ZAP70 Immunodeficiency 48 Autosomal recessive 176947 269840 2 NA VWA3B|SCAR22 VWA3B|NA VWA3B ?Spinocerebellar ataxia, autosomal recessive 22 Autosomal recessive 614884 616948 2 mutation identified in 1 SCAR22 family CNGA3|CNG3|ACHM2 CNGA3|CNGA3|CNGA3 CNGA3 Achromatopsia-2 Autosomal recessive 600053 216900 2 NA COA5|C2orf64|PET191|CEMCOX3 COA5|COA5|NA|NA COA5 ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Autosomal recessive 613920 616500 2 mutation identified in 1 CEMCOX3 family @@ -769,27 +779,27 @@ RANBP2|NUP358|ANE1|IIAE3 RANBP2|RANBP2|RANBP2|NA RANBP2 Encephalopathy, acute, i EDAR|DL|ED3|EDA3|HRM1|ECTD10A|ECTD10B EDAR|EDAR|EDAR|EDAR|NA|NA|NA EDAR Hair morphology 1, hair thickness None 604095 612630 2 NA EDAR|DL|ED3|EDA3|HRM1|ECTD10A|ECTD10B EDAR|EDAR|EDAR|EDAR|NA|NA|NA EDAR Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Autosomal recessive 604095 224900 2 NA EDAR|DL|ED3|EDA3|HRM1|ECTD10A|ECTD10B EDAR|EDAR|EDAR|EDAR|NA|NA|NA EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal dominant 604095 129490 2 NA +NPHP1|NPH1|SLSN1|JBTS4 NPHP1|NPHP1|NPHP1|NPHP1 NPHP1 Senior-Loken syndrome-1 Autosomal recessive 607100 266900 2 NA NPHP1|NPH1|SLSN1|JBTS4 NPHP1|NPHP1|NPHP1|NPHP1 NPHP1 Nephronophthisis 1, juvenile Autosomal recessive 607100 256100 2 NA NPHP1|NPH1|SLSN1|JBTS4 NPHP1|NPHP1|NPHP1|NPHP1 NPHP1 Joubert syndrome 4 Autosomal recessive 607100 609583 2 NA -NPHP1|NPH1|SLSN1|JBTS4 NPHP1|NPHP1|NPHP1|NPHP1 NPHP1 Senior-Loken syndrome-1 Autosomal recessive 607100 266900 2 NA BUB1 BUB1 BUB1 Colorectal cancer with chromosomal instability, somatic None 602452 NA 2 NA MERTK|RP38 MERTK|MERTK MERTK Retinitis pigmentosa 38 Autosomal recessive 604705 613862 2 NA CMD1H CMD1H CMD1H Cardiomyopathy, dilated, 1H None 604288 604288 2 NA CKAP2L|RADMIS CKAP2L|NA CKAP2L Filippi syndrome Autosomal recessive 616174 272440 2 NA IL1B IL1B IL1B Gastric cancer risk after H. pylori infection Autosomal dominant 147720 137215 2 within 430kb of IL1RN, IL1A IL36RN|IL1F5|FIL1D|IL1HY1|IL1RP3|PSORP|PSORS14 IL36RN|IL36RN|IL36RN|IL36RN|IL36RN|NA|NA IL36RN Psoriasis 14, pustular Autosomal recessive 605507 614204 2 NA -IL1RN|MVCD4|DIRA IL1RN|NA|NA IL1RN Microvascular complications of diabetes 4 None 147679 612628 2 NA IL1RN|MVCD4|DIRA IL1RN|NA|NA IL1RN Gastric cancer risk after H. pylori infection Autosomal dominant 147679 137215 2 NA IL1RN|MVCD4|DIRA IL1RN|NA|NA IL1RN Interleukin 1 receptor antagonist deficiency Autosomal recessive 147679 612852 2 NA +IL1RN|MVCD4|DIRA IL1RN|NA|NA IL1RN Microvascular complications of diabetes 4 None 147679 612628 2 NA PAX8 PAX8 PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Autosomal dominant 167415 218700 2 NA STEAP3|TSAP6|AHMIO2 STEAP3|STEAP3|NA STEAP3 ?Anemia, hypochromic microcytic, with iron overload 2 Autosomal dominant 609671 615234 2 1 family identifed with mutation -GLI2|HPE9|CJS GLI2|GLI2|NA GLI2 Holoprosencephaly 9 Autosomal dominant 165230 610829 2 NA GLI2|HPE9|CJS GLI2|GLI2|NA GLI2 Culler-Jones syndrome Autosomal dominant 165230 615849 2 NA -RNU4ATAC|U4ATAC|MOPD1|TALS|RFMN RNU4ATAC|NA|NA|NA|NA RNU4ATAC Microcephalic osteodysplastic primordial dwarfism, type I Autosomal recessive 601428 210710 2 NA +GLI2|HPE9|CJS GLI2|GLI2|NA GLI2 Holoprosencephaly 9 Autosomal dominant 165230 610829 2 NA RNU4ATAC|U4ATAC|MOPD1|TALS|RFMN RNU4ATAC|NA|NA|NA|NA RNU4ATAC Roifman syndrome Autosomal recessive 601428 616651 2 NA +RNU4ATAC|U4ATAC|MOPD1|TALS|RFMN RNU4ATAC|NA|NA|NA|NA RNU4ATAC Microcephalic osteodysplastic primordial dwarfism, type I Autosomal recessive 601428 210710 2 NA DYT21 DYT21 DYT21 Dystonia 21 Autosomal dominant 614588 614588 2 NA -GYPC|GE|GPC GYPC|NA|GYPC GYPC Malaria, resistance to None 110750 611162 2 NA GYPC|GE|GPC GYPC|NA|GYPC GYPC Blood group, Gerbich None 110750 616089 2 NA +GYPC|GE|GPC GYPC|NA|GYPC GYPC Malaria, resistance to None 110750 611162 2 NA BIN1|AMPHL BIN1|BIN1 BIN1 Myopathy, centronuclear, autosomal recessive Autosomal recessive 601248 255200 2 NA ERCC3|XPB|TTD2 ERCC3|ERCC3|NA ERCC3 Xeroderma pigmentosum, group B Autosomal recessive 133510 610651 2 NA ERCC3|XPB|TTD2 ERCC3|ERCC3|NA ERCC3 Trichothiodystrophy 2, photosensitive None 133510 616390 2 NA @@ -803,8 +813,8 @@ RAB3GAP1|WARBM1|P130 RAB3GAP1|RAB3GAP1|NOLC1 NOLC1,RAB3GAP1 Warburg micro syndro LCT|LAC|LPH LCT|NA|POMC LCT,POMC Lactase deficiency, congenital Autosomal recessive 603202 223000 2 NA MCM6 MCM6 MCM6 Lactase persistence/nonpersistence Autosomal recessive 601806 223100 2 mutations in introns 9 and 13 DARS|HBSL DARS|NA DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity Autosomal recessive 603084 615281 2 NA -CXCR4|D2S201E|NPY3R|WHIMS CXCR4|CXCR4|CXCR4|NA CXCR4 Myelokathexis, isolated None 162643 NA 2 NA CXCR4|D2S201E|NPY3R|WHIMS CXCR4|CXCR4|CXCR4|NA CXCR4 WHIM syndrome Autosomal dominant 162643 193670 2 NA +CXCR4|D2S201E|NPY3R|WHIMS CXCR4|CXCR4|CXCR4|NA CXCR4 Myelokathexis, isolated None 162643 NA 2 NA HNMT|MRT51 HNMT|NA HNMT Asthma, susceptibility to Autosomal dominant 605238 600807 2 NA HNMT|MRT51 HNMT|NA HNMT Mental retardation, autosomal recessive 51 Autosomal recessive 605238 616739 2 NA KYNU|KYNUU KYNU|NA KYNU ?Hydroxykynureninuria Autosomal recessive 605197 236800 2 mutation identified in 1 KYNUU family @@ -814,15 +824,14 @@ DFNB27 DFNB27 DFNB27 Deafness, autosomal recessive 27 Autosomal recessive 605818 ORC4|ORC4L ORC4|ORC4 ORC4 Meier-Gorlin syndrome 2 Autosomal recessive 603056 613800 2 NA MBD5|KIAA1461|MRD1 MBD5|MBD5|NA MBD5 Mental retardation, autosomal dominant 1 Autosomal dominant 611472 156200 2 NA KIF5C|NKHC2|CDCBM2 KIF5C|NA|NA KIF5C Cortical dysplasia, complex, with other brain malformations 2 Autosomal dominant 604593 615282 2 NA +C2orf25|MMADHC MMADHC|MMADHC MMADHC Methylmalonic aciduria, cblD type, variant 2 Autosomal recessive 611935 277410 2 NA C2orf25|MMADHC MMADHC|MMADHC MMADHC Methylmalonic aciduria and homocystinuria, cblD type Autosomal recessive 611935 277410 2 NA C2orf25|MMADHC MMADHC|MMADHC MMADHC Homocystinuria, cblD type, variant 1 Autosomal recessive 611935 277410 2 NA -C2orf25|MMADHC MMADHC|MMADHC MMADHC Methylmalonic aciduria, cblD type, variant 2 Autosomal recessive 611935 277410 2 NA NEB|NEM2 NEB|NEB NEB Nemaline myopathy 2, autosomal recessive Autosomal recessive 161650 256030 2 NA +CACNB4|EJM6|EA5|EIG9 CACNB4|CLCN2|NA|NA CLCN2,CACNB4 Episodic ataxia, type 5 None 601949 613855 2 NA CACNB4|EJM6|EA5|EIG9 CACNB4|CLCN2|NA|NA CLCN2,CACNB4 Epilepsy, juvenile myoclonic, susceptibility to, 6 Autosomal dominant 601949 607682 2 NA CACNB4|EJM6|EA5|EIG9 CACNB4|CLCN2|NA|NA CLCN2,CACNB4 Epilepsy, idiopathic generalized, susceptibility to, 9 Autosomal dominant 601949 607682 2 NA -CACNB4|EJM6|EA5|EIG9 CACNB4|CLCN2|NA|NA CLCN2,CACNB4 Episodic ataxia, type 5 None 601949 613855 2 NA MMDK|MDK NA|MDK MDK Mesomelic dysplasia, Kantaputra type Autosomal dominant 156232 156232 2 NA -SPG23 SPG23 SPG23 Spastic paraplegia 23 Autosomal recessive 270750 270750 2 max lod at D1S2692 GPD2 GPD2 GPD2 Diabetes, type 2, susceptibility to Autosomal dominant 138430 125853 2 pseudogene on 19 ACVR1|ACVRLK2|ALK2|FOP ACVR1|ACVR1|ACVR1|CHTOP,FGFR1OP FGFR1OP,CHTOP,ACVR1 Fibrodysplasia ossificans progressiva Autosomal dominant 102576 135100 2 NA ITGB6|AI1H ITGB6|NA ITGB6 Amelogenesis imperfecta, type IH Autosomal recessive 147558 616221 2 NA @@ -830,23 +839,23 @@ GCG GCG GCG ?Hyperproglucagonemia None 138030 NA 2 NA IFIH1|MDA5|AGS7|SGMRT1 IFIH1|IFIH1|NA|NA IFIH1 Singleton-Merten syndrome 1 Autosomal dominant 606951 182250 2 NA IFIH1|MDA5|AGS7|SGMRT1 IFIH1|IFIH1|NA|NA IFIH1 Aicardi-Goutieres syndrome 7 Autosomal dominant 606951 615846 2 NA IDDM19 IFIH1 IFIH1 Diabetes mellitus, insulin-dependent, 19 None 610155 610155 2 associated with rs1990760 -SCN2A|SCN2A1|BFIC3|EIEE11|BFIS3|BFNIS SCN2A|SCN2A|NA|NA|NA|NA SCN2A Seizures, benign familial infantile, 3 Autosomal dominant 182390 607745 2 4 related genes on chr.2 SCN2A|SCN2A1|BFIC3|EIEE11|BFIS3|BFNIS SCN2A|SCN2A|NA|NA|NA|NA SCN2A Epileptic encephalopathy, early infantile, 11 Autosomal dominant 182390 613721 2 4 related genes on chr.2 +SCN2A|SCN2A1|BFIC3|EIEE11|BFIS3|BFNIS SCN2A|SCN2A|NA|NA|NA|NA SCN2A Seizures, benign familial infantile, 3 Autosomal dominant 182390 607745 2 4 related genes on chr.2 GALNT3|HHS|HFTC GALNT3|GALNT3|GALNT3 GALNT3 Tumoral calcinosis, hyperphosphatemic, familial Autosomal recessive 601756 211900 2 NA +TTC21B|THM1|NPHP12|SRTD4|ATD4 TTC21B|TTC21B|TTC21B|NA|NA TTC21B Nephronophthisis 12 Autosomal dominant; Autosomal recessive 612014 613820 2 NA TTC21B|THM1|NPHP12|SRTD4|ATD4 TTC21B|TTC21B|TTC21B|NA|NA TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly Autosomal recessive 612014 613819 2 NA -TTC21B|THM1|NPHP12|SRTD4|ATD4 TTC21B|TTC21B|TTC21B|NA|NA TTC21B Nephronophthisis 12 None 612014 613820 2 NA +SCN1A|GEFSP2|SMEI|FEB3A|EIEE6|FHM3 SCN1A|SCN1A|SCN1A|NA|NA|NA SCN1A Migraine, familial hemiplegic, 3 Autosomal dominant 182389 609634 2 NA SCN1A|GEFSP2|SMEI|FEB3A|EIEE6|FHM3 SCN1A|SCN1A|SCN1A|NA|NA|NA SCN1A Febrile seizures, familial, 3A Autosomal dominant 182389 604403 2 NA SCN1A|GEFSP2|SMEI|FEB3A|EIEE6|FHM3 SCN1A|SCN1A|SCN1A|NA|NA|NA SCN1A Epilepsy, generalized, with febrile seizures plus, type 2 Autosomal dominant 182389 604403 2 NA SCN1A|GEFSP2|SMEI|FEB3A|EIEE6|FHM3 SCN1A|SCN1A|SCN1A|NA|NA|NA SCN1A Dravet syndrome Autosomal dominant 182389 607208 2 NA -SCN1A|GEFSP2|SMEI|FEB3A|EIEE6|FHM3 SCN1A|SCN1A|SCN1A|NA|NA|NA SCN1A Migraine, familial hemiplegic, 3 Autosomal dominant 182389 609634 2 NA -SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Epilepsy, generalized, with febrile seizures plus, type 7 Autosomal dominant 603415 613863 2 NA -SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Paroxysmal extreme pain disorder, Autosomal dominant 603415 167400 2 NA -SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Insensitivity to pain, congenital Autosomal recessive 603415 243000 2 NA -SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A HSAN2D, autosomal recessive Autosomal recessive 603415 243000 2 NA SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Febrile seizures, familial, 3B Autosomal dominant 603415 613863 2 NA SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Dravet syndrome, modifier of Autosomal dominant 603415 607208 2 NA SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Erythermalgia, primary Autosomal dominant 603415 133020 2 NA SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Small fiber neuropathy Autosomal dominant 603415 133020 2 NA +SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Epilepsy, generalized, with febrile seizures plus, type 7 Autosomal dominant 603415 613863 2 NA +SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Paroxysmal extreme pain disorder, Autosomal dominant 603415 167400 2 NA +SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A Insensitivity to pain, congenital Autosomal recessive 603415 243000 2 NA +SCN9A|NENA|PN1|FEB3B|GEFSP7|SFNP|HSAN2D SCN9A|SCN9A|SCN9A,SERPINE2|NA|NA|NA|NA SERPINE2,SCN9A HSAN2D, autosomal recessive Autosomal recessive 603415 243000 2 NA IDDM7 IDDM7 IDDM7 Diabetes mellitus, insulin-dependent, 7 None 600321 600321 2 NA SHFM5 SHFM5 SHFM5 Split-hand/foot malformation 5 None 606708 606708 2 between EVX2 and D2S294 ABCB11|BSEP|SPGP|PFIC2|BRIC2 ABCB11|ABCB11|ABCB11|ABCB11|NA ABCB11 Cholestasis, progressive familial intrahepatic 2 Autosomal recessive 603201 601847 2 NA @@ -856,32 +865,32 @@ BBS5 BBS5 BBS5 Bardet-Biedl syndrome 5 Autosomal recessive 603650 615983 2 NA KLHL41|KBTBD10|SARCOSIN|NEM9 KLHL41|KLHL41|KLHL41|NA KLHL41 Nemaline myopathy 9 Autosomal recessive 607701 615731 2 NA GAD1|SCP|CPSQ1 GAD1|SLC50A1|NA GAD1,SLC50A1 ?Cerebral palsy, spastic quadriplegic, 1 Autosomal recessive 605363 603513 2 mutation identified in 1 CPSQ1 family DCAF17|C20orf37 DCAF17|ITPA ITPA,DCAF17 Woodhouse-Sakati syndrome Autosomal recessive 612515 241080 2 NA -SLC25A12|ARALAR SLC25A12|NA SLC25A12 Hypomyelination, global cerebral Autosomal recessive 603667 612949 2 NA +SLC25A12|ARALAR|EIEE39 SLC25A12|NA|NA SLC25A12 Epileptic encephalopathy, early infantile, 39 Autosomal recessive 603667 612949 2 NA ITGA6 ITGA6 ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis Autosomal recessive 147556 226730 2 NA ZAK|MLTK|MRK|SFMMP NA|NA|ICK|NA ICK Split-foot malformation with mesoaxial polydactyly Autosomal recessive 609479 616890 2 NA CDCA7|JPO1|ICF3 CDCA7|CDCA7|NA CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 None 609937 616910 2 NA WIPF1|WASPIP|WIP|WAS2 WIPF1|WIPF1|WIPF1|NA WIPF1 ?Wiskott-Aldrich syndrome 2 None 602357 614493 2 mutation identified in 1 WAS2 patient -CHRNA1|ACHRD|CMS1B|CMS1A CHRNA1|CHRND|NA|NA CHRNA1,CHRND Myasthenic syndrome, congenital, 1B, fast-channel Autosomal dominant; Autosomal recessive 100690 608930 2 NA CHRNA1|ACHRD|CMS1B|CMS1A CHRNA1|CHRND|NA|NA CHRNA1,CHRND Myasthenic syndrome, congenital, 1A, slow-channel Autosomal dominant 100690 601462 2 NA CHRNA1|ACHRD|CMS1B|CMS1A CHRNA1|CHRND|NA|NA CHRNA1,CHRND Multiple pterygium syndrome, lethal type Autosomal recessive 100690 253290 2 NA +CHRNA1|ACHRD|CMS1B|CMS1A CHRNA1|CHRND|NA|NA CHRNA1,CHRND Myasthenic syndrome, congenital, 1B, fast-channel Autosomal dominant; Autosomal recessive 100690 608930 2 NA CHN1|CHN|ARHGAP2|RHOGAP2|DURS2 CHN1|CHN1,NR4A3|CHN1|NA|CHN1 NR4A3,CHN1 Duane retraction syndrome 2 None 118423 604356 2 NA +HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Synpolydactyly 1 Autosomal dominant 142989 186000 2 mutation identified in 1 BDSD family +HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Syndactyly, type V Autosomal dominant 142989 186300 2 mutation identified in 1 BDSD family HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Brachydactyly, type E Autosomal dominant 142989 113300 2 mutation identified in 1 BDSD family HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Brachydactyly, type D Autosomal dominant 142989 113200 2 mutation identified in 1 BDSD family HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 ?Brachydactyly-syndactyly syndrome None 142989 610713 2 mutation identified in 1 BDSD family -HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Synpolydactyly 1 Autosomal dominant 142989 186000 2 mutation identified in 1 BDSD family -HOXD13|HOX4I|SPD1|BDSD HOXD13|HOXD13|NA|NA HOXD13 Syndactyly, type V Autosomal dominant 142989 186300 2 mutation identified in 1 BDSD family HOXD10|HOX4D HOXD10|HOXD10 HOXD10 Vertical talus, congenital Autosomal dominant 142984 192950 2 NA HOXD10|HOX4D HOXD10|HOXD10 HOXD10 Charcot-Marie-Tooth disease, foot deformity of Autosomal dominant 142984 192950 2 NA AGPS|ADHAPS|RCDP3 AGPS|AGPS|NA AGPS Rhizomelic chondrodysplasia punctata, type 3 Autosomal recessive 603051 600121 2 NA PDE11A|PDE11A1|PDE11A2|PDE11A3|PPNAD2 PDE11A|NA|NA|NA|NA PDE11A Pigmented nodular adrenocortical disease, primary, 2 Autosomal dominant 604961 610475 2 NA PRKRA|PACT|RAX|DYT16 PRKRA|PRKRA,RBBP6|PRKRA,RAX|PRKRA PRKRA,RBBP6,RAX Dystonia 16 Autosomal recessive 603424 612067 2 NA PJVK|DFNB59 NA|DFNB59 DFNB59 Deafness, autosomal recessive 59 Autosomal recessive 610219 610220 2 NA +TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Muscular dystrophy, limb-girdle, type 2J Autosomal recessive 188840 608807 2 NA +TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Cardiomyopathy, familial hypertrophic, 9 None 188840 613765 2 NA TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Cardiomyopathy, dilated, 1G None 188840 604145 2 NA TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Tibial muscular dystrophy, tardive Autosomal dominant 188840 600334 2 NA TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Myopathy, proximal, with early respiratory muscle involvement None 188840 603689 2 NA TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Myopathy, early-onset, with fatal cardiomyopathy Autosomal recessive 188840 611705 2 NA -TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Muscular dystrophy, limb-girdle, type 2J Autosomal recessive 188840 608807 2 NA -TTN|CMD1G|TMD|LGMD2J|MPRM|HMERF|EOMFC TTN|TTN|TTN|TTN|NA|NA|NA TTN Cardiomyopathy, familial hypertrophic, 9 None 188840 613765 2 NA CERKL|RP26 CERKL|CERKL CERKL Retinitis pigmentosa 26 None 608381 608380 2 NA NEUROD1|NIDDM NEUROD1|NA NEUROD1 Diabetes mellitus, noninsulin-dependent Autosomal dominant 601724 125853 2 NA NEUROD1|NIDDM NEUROD1|NA NEUROD1 Maturity-onset diabetes of the young 6 None 601724 606394 2 NA @@ -892,9 +901,9 @@ COL5A2|EDSC COL5A2|NA COL5A2 Ehlers-Danlos syndrome, classic type Autosomal domi SLC40A1|SLC11A3|FPN1|IREG1|HFE4 SLC40A1|SLC40A1|SLC40A1|SLC40A1|SLC40A1 SLC40A1 Hemochromatosis, type 4 None 604653 606069 2 NA GDF8|MSTN|MSLHP MSTN|MSTN|NA MSTN Muscle hypertrophy None 601788 614160 2 NA HIBCH HIBCH HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency Autosomal recessive 610690 250620 2 NA +STAT1|CANDF7|IMD31A|IMD31B|IMD31C STAT1|NA|NA|NA|NA STAT1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant Autosomal dominant 600555 614892 2 NA STAT1|CANDF7|IMD31A|IMD31B|IMD31C STAT1|NA|NA|NA|NA STAT1 Immunodeficiency 31C, autosomal dominant Autosomal dominant 600555 614162 2 NA STAT1|CANDF7|IMD31A|IMD31B|IMD31C STAT1|NA|NA|NA|NA STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive Autosomal recessive 600555 613796 2 NA -STAT1|CANDF7|IMD31A|IMD31B|IMD31C STAT1|NA|NA|NA|NA STAT1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant Autosomal dominant 600555 614892 2 NA STAT4|SLEB11 STAT4|NA STAT4 Systemic lupus erythematosus, susceptibility to, 11 None 600558 612253 2 NA PGAP1|MRT42 PGAP1|NA PGAP1 Mental retardation, autosomal recessive 42 Autosomal recessive 611655 615802 2 NA SF3B1|SF3B155|SAP155|MDS SF3B1|NA|SF3B1|PAFAH1B1 PAFAH1B1,SF3B1 Myelodysplastic syndrome, somatic None 605590 614286 2 NA @@ -903,10 +912,10 @@ HSPD1|SPG13|HSP60|HLD4 HSPD1|HSPD1|HSPD1|NA HSPD1 Leukodystrophy, hypomyelinatin MARS2|SPAX3|COXPD25 MARS2|MARS2|NA MARS2 Spastic ataxia 3, autosomal recessive Autosomal recessive 609728 611390 2 mutation identified in 1 COXPD25 family MARS2|SPAX3|COXPD25 MARS2|MARS2|NA MARS2 ?Combined oxidative phosphorylation deficiency 25 Autosomal recessive 609728 616430 2 mutation identified in 1 COXPD25 family SATB2|KIAA1034|GLSS SATB2|SATB2|NA SATB2 Glass syndrome Autosomal dominant 608148 612313 2 NA -NDUFB3 NDUFB3 NDUFB3 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 603839 252010 2 pseudogenes on chr. 1, 9, and 14 -CASP10|MCH4|ALPS2 CASP10|CASP10|NA CASP10 Autoimmune lymphoproliferative syndrome, type II Autosomal dominant 601762 603909 2 NA +NDUFB3 NDUFB3 NDUFB3 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 603839 252010 2 pseudogenes on chr. 1, 9, and 14 CASP10|MCH4|ALPS2 CASP10|CASP10|NA CASP10 Lymphoma, non-Hodgkin, somatic None 601762 605027 2 NA CASP10|MCH4|ALPS2 CASP10|CASP10|NA CASP10 Gastric cancer, somatic None 601762 613659 2 NA +CASP10|MCH4|ALPS2 CASP10|CASP10|NA CASP10 Autoimmune lymphoproliferative syndrome, type II Autosomal dominant 601762 603909 2 NA CASP8|MCH5|ALPS2B CASP8|CASP8|NA CASP8 Lung cancer, protection against Autosomal recessive 601763 211980 2 mutation identified in 1 ALPS2B family CASP8|MCH5|ALPS2B CASP8|CASP8|NA CASP8 Breast cancer, protection against Autosomal dominant 601763 114480 2 mutation identified in 1 ALPS2B family CASP8|MCH5|ALPS2B CASP8|CASP8|NA CASP8 Hepatocellular carcinoma, somatic None 601763 114550 2 mutation identified in 1 ALPS2B family @@ -916,17 +925,17 @@ ALS2|ALSJ|PLSJ|IAHSP ALS2|NA|NA|NA ALS2 Spastic paralysis, infantile onset ascen ALS2|ALSJ|PLSJ|IAHSP ALS2|NA|NA|NA ALS2 Primary lateral sclerosis, juvenile Autosomal recessive 606352 606353 2 NA ALS2|ALSJ|PLSJ|IAHSP ALS2|NA|NA|NA ALS2 Amyotrophic lateral sclerosis 2, juvenile Autosomal recessive 606352 205100 2 NA SUMO1|UBL1|SMT3|OFC10 SUMO1|SUMO1|NA|SUMO1 SUMO1 Orofacial cleft 10 None 601912 613705 2 NA -BMPR2|PPH1|POVD1 BMPR2|BMPR2|NA BMPR2 Pulmonary venoocclusive disease 1 Autosomal dominant 600799 265450 2 NA BMPR2|PPH1|POVD1 BMPR2|BMPR2|NA BMPR2 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated Autosomal dominant 600799 178600 2 NA BMPR2|PPH1|POVD1 BMPR2|BMPR2|NA BMPR2 Pulmonary hypertension, familial primary, 1, with or without HHT Autosomal dominant 600799 178600 2 NA +BMPR2|PPH1|POVD1 BMPR2|BMPR2|NA BMPR2 Pulmonary venoocclusive disease 1 Autosomal dominant 600799 265450 2 NA +CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Hashimoto thyroiditis Autosomal dominant 123890 140300 2 NA +CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Diabetes mellitus, insulin-dependent, 12 None 123890 601388 2 NA CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Celiac disease, susceptibility to, 3 None 123890 609755 2 NA CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Autoimmune lymphoproliferative syndrome, type V Autosomal dominant 123890 616100 2 NA CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Systemic lupus erythematosus, susceptibility to Autosomal dominant 123890 152700 2 NA -CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Hashimoto thyroiditis Autosomal dominant 123890 140300 2 NA -CTLA4|IDDM12|CELIAC3|ALPS5 CTLA4|CTLA4|CTLA4|NA CTLA4 Diabetes mellitus, insulin-dependent, 12 None 123890 601388 2 NA ICOS|AILIM|CVID1 CTLA4,ICOS|ICOS|NA CTLA4,ICOS Immunodeficiency, common variable, 1 Autosomal recessive 604558 607594 2 NA OS4|GOA1 CTDSP2|NA CTDSP2 Osteoarthritis susceptibility 4 None 610839 610839 2 max lod at D2S2358 -NDUFS1 NDUFS1 NDUFS1 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 157655 252010 2 NA +NDUFS1 NDUFS1 NDUFS1 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 157655 252010 2 NA FASTKD2|KIAA0971 FASTKD2|FASTKD2 FASTKD2 ?Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 612322 220110 2 mutation identified in 1 family CREB1 CREB1 CREB1 Histiocytoma, angiomatoid fibrous, somatic None 123810 612160 2 fusion gene with EWSR1 CRYGD|CRYG4|CTRCT4|CACA|CCA3|PCC CRYGD|CRYGD|NA|NA|NA|NA CRYGD Cataract 4, multiple types Autosomal dominant 123690 115700 2 NA @@ -938,61 +947,62 @@ TCL4 TCL4 TCL4 Leukemia/lymphoma, T-cell None 186860 186860 2 NA IDH1 IDH1 IDH1 Glioma, susceptibility to, somatic None 147700 137800 2 NA PIKFYVE|PIP5K3 PIKFYVE|PIKFYVE PIKFYVE Corneal fleck dystrophy Autosomal dominant 609414 121850 2 NA UNC80|C2orf21|KIAA1843 UNC80|UNC80|UNC80 UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Autosomal recessive 612636 616801 2 NA -CPS1|PHN CPS1,CYP21A2|NA CYP21A2,CPS1 Venoocclusive disease after bone marrow transplantation None 608307 NA 2 urea cycle enzyme CPS1|PHN CPS1,CYP21A2|NA CYP21A2,CPS1 Pulmonary hypertension, neonatal, susceptibility to None 608307 615371 2 urea cycle enzyme CPS1|PHN CPS1,CYP21A2|NA CYP21A2,CPS1 Carbamoylphosphate synthetase I deficiency Autosomal recessive 608307 237300 2 urea cycle enzyme +CPS1|PHN CPS1,CYP21A2|NA CYP21A2,CPS1 Venoocclusive disease after bone marrow transplantation None 608307 NA 2 urea cycle enzyme ERBB4|HER4|ALS19 ERBB4|ERBB4|ERBB4 ERBB4 Amyotrophic lateral sclerosis 19 Autosomal dominant 600543 615515 2 NA BARD1 BARD1 BARD1 Breast cancer, susceptibility to Autosomal dominant 601593 114480 2 NA ABCA12|ARCI4A|ARCI4B|ICR2B|LI2 ABCA12|NA|NA|ABCA12|ABCA12 ABCA12 Ichthyosis, congenital, autosomal recessive 4A Autosomal recessive 607800 601277 2 NA ABCA12|ARCI4A|ARCI4B|ICR2B|LI2 ABCA12|NA|NA|ABCA12|ABCA12 ABCA12 Ichthyosis, autosomal recessive 4B (harlequin) Autosomal recessive 607800 242500 2 NA ATIC|PURH|AICAR ATIC|ATIC|NA ATIC AICA-ribosiduria due to ATIC deficiency Autosomal recessive 601731 608688 2 NA -FN1|FN|LETS|FNZ|GFND2 FN1|NA|FN1|NA|FN1 FN1 Plasma fibronectin deficiency None 135600 614101 2 NA +FN1|FN|LETS|FNZ|GFND2 FN1|NA|FN1|NA|FN1 FN1 Plasma fibronectin deficiency Autosomal dominant 135600 614101 2 NA FN1|FN|LETS|FNZ|GFND2 FN1|NA|FN1|NA|FN1 FN1 Glomerulopathy with fibronectin deposits 2 Autosomal dominant 135600 601894 2 NA SMARCAL1|HARP|SIOD SMARCAL1|ANGPTL2,ANKS4B,PANK2,SMARCAL1|NA SMARCAL1,PANK2,ANGPTL2,ANKS4B Schimke immunoosseous dysplasia Autosomal recessive 606622 242900 2 NA CXCR1|IL8RA CXCR1|CXCR1 CXCR1 AIDS, slow progression to None 146929 609423 2 NA MR1|TAHCCP2|KIPP1184|BRP17|PNKD|FPD1|PDC|DYT8 MR1|PNKD|PNKD|PNKD|PNKD|PNKD|PDC,PNKD|PNKD PNKD,PDC,MR1 Paroxysmal nonkinesigenic dyskinesia Autosomal dominant 609023 118800 2 NA -NRAMP1|NRAMP|SLC11A1 SLC11A1|SLC11A1|SLC11A1 SLC11A1 Mycobacterium tuberculosis, susceptibility to infection by None 600266 607948 2 within 220 kb of VIL1 NRAMP1|NRAMP|SLC11A1 SLC11A1|SLC11A1|SLC11A1 SLC11A1 Buruli ulcer, susceptibility to None 600266 610446 2 within 220 kb of VIL1 +NRAMP1|NRAMP|SLC11A1 SLC11A1|SLC11A1|SLC11A1 SLC11A1 Mycobacterium tuberculosis, susceptibility to infection by None 600266 607948 2 within 220 kb of VIL1 VIL1 VIL1 VIL1 Cholestasis, progressive canalicular None 193040 NA 2 NA -BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L Mitochondrial complex III deficiency, nuclear type 1 Autosomal recessive 603647 124000 2 NA -BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L Leigh syndrome Mitochondrial; Autosomal recessive 603647 256000 2 NA BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L GRACILE syndrome None 603647 603358 2 NA BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L Bjornstad syndrome Autosomal recessive 603647 262000 2 NA +BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L Mitochondrial complex III deficiency, nuclear type 1 Autosomal recessive 603647 124000 2 NA +BCS1L|FLNMS|GRACILE|BJS|PTD|MC3DN1 BCS1L|NA|NA|BCS1L|NA|NA BCS1L Leigh syndrome Mitochondrial; Autosomal recessive 603647 256000 2 NA CYP27A1|CYP27|CTX CYP27A1|CYP27A1|CYP27A1 CYP27A1 Cerebrotendinous xanthomatosis Autosomal recessive 606530 213700 2 NA -WNT10A|SSPS|STHAG4|OODD WNT10A|NA|NA|NA WNT10A Odontoonychodermal dysplasia Autosomal recessive 606268 257980 2 NA WNT10A|SSPS|STHAG4|OODD WNT10A|NA|NA|NA WNT10A Tooth agenesis, selective, 4 Autosomal dominant 606268 150400 2 NA WNT10A|SSPS|STHAG4|OODD WNT10A|NA|NA|NA WNT10A Schopf-Schulz-Passarge syndrome Autosomal recessive 606268 224750 2 NA +WNT10A|SSPS|STHAG4|OODD WNT10A|NA|NA|NA WNT10A Odontoonychodermal dysplasia Autosomal recessive 606268 257980 2 NA CRYBA2|CTRCT42 CRYBA2|NA CRYBA2 ?Cataract 42 Autosomal dominant 600836 115900 2 mutation identified in 1 CTRCT42 family -IHH|BDA1 IHH|IHH IHH Acrocapitofemoral dysplasia Autosomal recessive 600726 607778 2 NA IHH|BDA1 IHH|IHH IHH Brachydactyly, type A1 Autosomal dominant 600726 112500 2 NA +IHH|BDA1 IHH|IHH IHH Acrocapitofemoral dysplasia Autosomal recessive 600726 607778 2 NA NHEJ1|XLF NHEJ1|NHEJ1 NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation None 611290 611291 2 NA -ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Dyschromatosis universalis hereditaria 3 Autosomal dominant 605452 615402 2 NA -ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Blood group, Langereis system None 605452 111600 2 NA ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Pseudohyperkalemia, familial, 2, due to red cell leak Autosomal dominant 605452 609153 2 NA ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Microphthalmia, isolated, with coloboma 7 Autosomal dominant 605452 614497 2 NA +ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Dyschromatosis universalis hereditaria 3 Autosomal dominant 605452 615402 2 NA +ABCB6|MTABC3|MCOPCB7|LAN|DUH3|PSHK2 ABCB6|ABCB6|NA|DGCR2|NA|NA DGCR2,ABCB6 Blood group, Langereis system None 605452 111600 2 NA TUBA4A|TUBA1|ALS22 TUBA4A|TUBA4A|NA TUBA4A Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia Autosomal dominant 191110 616208 2 NA DNAJB2|HSJ1|HSPF3|DSMA5 DNAJB2|DNAJB2|DNAJB2|NA DNAJB2 Spinal muscular atrophy, distal, autosomal recessive, 5 Autosomal recessive 604139 614881 2 NA +DES|CMD1I|MFM1|SCPNK|ARVD7|ARVC7|LGMD2R DES|DES|NA|NA|NA|NA|NA DES ?Muscular dystrophy, limb-girdle, type 2R Autosomal recessive 125660 615325 2 1 family with LGMD2R identified with mutation DES|CMD1I|MFM1|SCPNK|ARVD7|ARVC7|LGMD2R DES|DES|NA|NA|NA|NA|NA DES Scapuloperoneal syndrome, neurogenic, Kaeser type Autosomal dominant 125660 181400 2 1 family with LGMD2R identified with mutation DES|CMD1I|MFM1|SCPNK|ARVD7|ARVC7|LGMD2R DES|DES|NA|NA|NA|NA|NA DES Myopathy, myofibrillar, 1 Autosomal dominant; Autosomal recessive 125660 601419 2 1 family with LGMD2R identified with mutation DES|CMD1I|MFM1|SCPNK|ARVD7|ARVC7|LGMD2R DES|DES|NA|NA|NA|NA|NA DES Cardiomyopathy, dilated, 1I None 125660 604765 2 1 family with LGMD2R identified with mutation -DES|CMD1I|MFM1|SCPNK|ARVD7|ARVC7|LGMD2R DES|DES|NA|NA|NA|NA|NA DES ?Muscular dystrophy, limb-girdle, type 2R Autosomal recessive 125660 615325 2 1 family with LGMD2R identified with mutation SPEG|APEG1|CNM5 SPEG|SPEG|NA SPEG Centronuclear myopathy 5 Autosomal recessive 615950 615959 2 NA GMPPA|AAMR GMPPA|NA GMPPA Alacrima, achalasia, and mental retardation syndrome Autosomal recessive 615495 615510 2 NA OBSL1|KIAA0657|3M2 OBSL1|OBSL1|NA OBSL1 3-M syndrome 2 None 610991 612921 2 NA -PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Rhabdomyosarcoma 2, alveolar Autosomal recessive 606597 268220 2 NA -PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Craniofacial-deafness-hand syndrome Autosomal dominant 606597 122880 2 NA PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Waardenburg syndrome, type 3 Autosomal dominant; Autosomal recessive 606597 148820 2 NA PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Waardenburg syndrome, type 1 Autosomal dominant 606597 193500 2 NA +PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Rhabdomyosarcoma 2, alveolar Autosomal recessive 606597 268220 2 NA +PAX3|WS1|HUP2|CDHS|WS3 PAX3|PAX3|PAX3|NA|NA PAX3 Craniofacial-deafness-hand syndrome Autosomal dominant 606597 122880 2 NA AP1S3|PSORS15 AP1S3|NA AP1S3 Psoriasis 15, pustular, susceptibility to Autosomal dominant 615781 616106 2 NA MRPL44|COXPD16 MRPL44|NA MRPL44 ?Combined oxidative phosphorylation deficiency 16 Autosomal recessive 611849 615395 2 Mutation identified in 1 family CUL3|PHA2E CUL3|NA CUL3 Pseudohypoaldosteronism, type IIE Autosomal dominant 603136 614496 2 NA IRS1 IRS1 IRS1 Diabetes mellitus, noninsulin-dependent Autosomal dominant 147545 125853 2 NA IRS1 IRS1 IRS1 Coronary artery disease, susceptibility to None 147545 NA 2 NA -COL4A4 COL4A4 COL4A4 Alport syndrome, autosomal recessive Autosomal recessive 120131 203780 2 head-to-head with COL4A4 in same YAC COL4A4 COL4A4 COL4A4 Hematuria, familial benign None 120131 NA 2 head-to-head with COL4A4 in same YAC +COL4A4 COL4A4 COL4A4 Alport syndrome, autosomal recessive Autosomal recessive 120131 203780 2 head-to-head with COL4A4 in same YAC +COL4A3 COL4A3 COL4A3 Alport syndrome, autosomal dominant Autosomal dominant 120070 104200 2 noncollagenous domain = Goodpasture antigen COL4A3 COL4A3 COL4A3 Hematuria, benign familial Autosomal dominant 120070 141200 2 noncollagenous domain = Goodpasture antigen COL4A3 COL4A3 COL4A3 Alport syndrome, autosomal recessive Autosomal recessive 120070 203780 2 noncollagenous domain = Goodpasture antigen -COL4A3 COL4A3 COL4A3 Alport syndrome, autosomal dominant Autosomal dominant 120070 104200 2 noncollagenous domain = Goodpasture antigen +MFF|C2orf33|EMPF2 MFF|MFF|NA MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Autosomal recessive 614785 617086 2 NA TM4SF20|SLI5 TM4SF20|NA TM4SF20 Specific language impairment 5 Autosomal dominant 615404 615432 2 NA SLC19A3|THMD2|BBGD SLC19A3|NA|NA SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Autosomal recessive 606152 607483 2 NA BDMR|C2DELq37|DEL2q37 HDAC4|NA|NA HDAC4 Chromosome 2q37 deletion syndrome Autosomal dominant 600430 600430 2 NA @@ -1003,41 +1013,41 @@ PDE6D|JBTS22 PDE6D|PDE6D PDE6D ?Joubert syndrome 22 Autosomal recessive 602676 6 DIS3L2|PRLMNS DIS3L2|NA DIS3L2 Perlman syndrome Autosomal recessive 614184 267000 2 NA ECEL1|XCE|DA5D ECEL1|ECEL1,XCE|NA ECEL1,XCE Arthrogryposis, distal, type 5D Autosomal recessive 605896 615065 2 NA PRSS56|MCOP6 PRSS56|NA PRSS56 Microphthalmia, isolated 6 Autosomal recessive 613858 613517 2 NA -CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND Myasthenic syndrome, congenital, 3B, fast-channel Autosomal recessive 100720 616322 2 mutation identified in 1 CMS3A patient and 1 CMS3C family -CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND Multiple pterygium syndrome, lethal type Autosomal recessive 100720 253290 2 mutation identified in 1 CMS3A patient and 1 CMS3C family CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency Autosomal recessive 100720 616323 2 mutation identified in 1 CMS3A patient and 1 CMS3C family CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND ?Myasthenic syndrome, congenital, 3A, slow-channel Autosomal dominant 100720 616321 2 mutation identified in 1 CMS3A patient and 1 CMS3C family -CHRNG|ACHRG CHRNG|CHRNG CHRNG Escobar syndrome Autosomal recessive 100730 265000 2 tightly linked to CHRND by RE +CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND Myasthenic syndrome, congenital, 3B, fast-channel Autosomal recessive 100720 616322 2 mutation identified in 1 CMS3A patient and 1 CMS3C family +CHRND|ACHRD|SCCMS|CMS3A|CMS3B|CMS3C CHRND|CHRND|NA|NA|NA|NA CHRND Multiple pterygium syndrome, lethal type Autosomal recessive 100720 253290 2 mutation identified in 1 CMS3A patient and 1 CMS3C family CHRNG|ACHRG CHRNG|CHRNG CHRNG Multiple pterygium syndrome, lethal type Autosomal recessive 100730 253290 2 tightly linked to CHRND by RE +CHRNG|ACHRG CHRNG|CHRNG CHRNG Escobar syndrome Autosomal recessive 100730 265000 2 tightly linked to CHRND by RE GIGYF2|KIAA0642|PARK11 GIGYF2|GIGYF2|PARK11,GIGYF2 PARK11,GIGYF2 Parkinson disease 11 None 612003 607688 2 NA KCNJ13|SVD|LCA16 KCNJ13|NA|KCNJ13 KCNJ13 Snowflake vitreoretinal degeneration Autosomal dominant 603208 193230 2 NA KCNJ13|SVD|LCA16 KCNJ13|NA|KCNJ13 KCNJ13 Leber congenital amaurosis 16 Autosomal recessive 603208 614186 2 NA -ATG16L1|APG16L|IBD10 ATG16L1|ATG16L1|NA ATG16L1 Inflammatory bowel disease 10 None 610767 611081 2 NA -SAG|RP47 RNF7,SAG|SAG RNF7,SAG Oguchi disease-1 Autosomal recessive 181031 258100 2 NA +ATG16L1|APG16L|IBD10 ATG16L1|ATG16L1|NA ATG16L1 Inflammatory bowel disease (Crohn disease) 10 None 610767 611081 2 NA SAG|RP47 RNF7,SAG|SAG RNF7,SAG Retinitis pigmentosa 47 None 181031 613758 2 NA +SAG|RP47 RNF7,SAG|SAG RNF7,SAG Oguchi disease-1 Autosomal recessive 181031 258100 2 NA +UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Crigler-Najjar syndrome, type I Autosomal recessive 191740 218800 2 NA UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Gilbert syndrome Autosomal recessive 191740 143500 2 NA UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Bilirubin, serum level of, QTL1 None 191740 601816 2 NA UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Hyperbilirubinemia, familial transient neonatal Autosomal recessive 191740 237900 2 NA UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Crigler-Najjar syndrome, type II Autosomal recessive 191740 606785 2 NA -UGT1A1|UGT1|GNT1|BILIQTL1 UGT1A1|SLC35A2,UGT1A1|UGT1A1,UGT1A6|NA UGT1A6,UGT1A1,SLC35A2 Crigler-Najjar syndrome, type I Autosomal recessive 191740 218800 2 NA +COL6A3|DYT27|BTHLM1|UCMD1 COL6A3|NA|NA|NA COL6A3 Bethlem myopathy 1 Autosomal dominant; Autosomal recessive 120250 158810 2 close to CRBP1 COL6A3|DYT27|BTHLM1|UCMD1 COL6A3|NA|NA|NA COL6A3 Ullrich congenital muscular dystrophy 1 Autosomal dominant; Autosomal recessive 120250 254090 2 close to CRBP1 COL6A3|DYT27|BTHLM1|UCMD1 COL6A3|NA|NA|NA COL6A3 Dystonia 27 Autosomal recessive 120250 616411 2 close to CRBP1 -COL6A3|DYT27|BTHLM1|UCMD1 COL6A3|NA|NA|NA COL6A3 Bethlem myopathy 1 Autosomal dominant; Autosomal recessive 120250 158810 2 close to CRBP1 MLPH MLPH MLPH Griscelli syndrome, type 3 Autosomal recessive 606526 609227 2 NA PER2|FASPS1|KIAA0347 PER2|NA|PER2 PER2 Advanced sleep phase syndrome, familial, 1 Autosomal dominant 603426 604348 2 NA TRAF3IP1|MIPT3|SLSN9 TRAF3IP1|TRAF3IP1|NA TRAF3IP1 Senior-Loken syndrome 9 Autosomal recessive 607380 616629 2 NA -TWIST2|DERMO1|SETLSS|FFDD3|BBRSAY|AMS TWIST2|TWIST2|NA|NA|NA|NA TWIST2 Ablepharon-macrostomia syndrome Autosomal dominant 607556 200110 2 NA TWIST2|DERMO1|SETLSS|FFDD3|BBRSAY|AMS TWIST2|TWIST2|NA|NA|NA|NA TWIST2 Focal facial dermal dysplasia 3, Setleis type Autosomal recessive 607556 227260 2 NA TWIST2|DERMO1|SETLSS|FFDD3|BBRSAY|AMS TWIST2|TWIST2|NA|NA|NA|NA TWIST2 Barber-Say syndrome Autosomal dominant 607556 209885 2 NA +TWIST2|DERMO1|SETLSS|FFDD3|BBRSAY|AMS TWIST2|TWIST2|NA|NA|NA|NA TWIST2 Ablepharon-macrostomia syndrome Autosomal dominant 607556 200110 2 NA NDUFA10 NDUFA10 NDUFA10 ?Leigh syndrome Mitochondrial; Autosomal recessive 603835 256000 2 mutation identified in 1 Leigh syndrome patient CAPN10|NIDDM1 CAPN10|NIDDM1 NIDDM1,CAPN10 Diabetes mellitus, noninsulin-dependent 1 None 605286 601283 2 NA -KIF1A|ATSV|UNC104|SPG30|HSN2C|MRD9 KIF1A|KIF1A|KIF1A|KIF1A|NA|NA KIF1A Neuropathy, hereditary sensory, type IIC Autosomal recessive 601255 614213 2 incorrectly assigned to chr.9 KIF1A|ATSV|UNC104|SPG30|HSN2C|MRD9 KIF1A|KIF1A|KIF1A|KIF1A|NA|NA KIF1A Mental retardation, autosomal dominant 9 Autosomal dominant 601255 614255 2 incorrectly assigned to chr.9 KIF1A|ATSV|UNC104|SPG30|HSN2C|MRD9 KIF1A|KIF1A|KIF1A|KIF1A|NA|NA KIF1A Spastic paraplegia 30, autosomal recessive Autosomal recessive 601255 610357 2 incorrectly assigned to chr.9 +KIF1A|ATSV|UNC104|SPG30|HSN2C|MRD9 KIF1A|KIF1A|KIF1A|KIF1A|NA|NA KIF1A Neuropathy, hereditary sensory, type IIC Autosomal recessive 601255 614213 2 incorrectly assigned to chr.9 AGXT|SPAT AGXT|AGXT AGXT Hyperoxaluria, primary, type 1 Autosomal recessive 604285 259900 2 NA D2HGDH|D2HGD D2HGDH|D2HGDH D2HGDH D-2-hydroxyglutaric aciduria Autosomal recessive 609186 600721 2 NA -PDCD1|SLEB2 PDCD1|PDCD1 PDCD1 Systemic lupus erythematosus, susceptibility to, 2 None 600244 605218 2 NA PDCD1|SLEB2 PDCD1|PDCD1 PDCD1 Multiple sclerosis, disease progression, modifier of Multifactorial 600244 126200 2 NA +PDCD1|SLEB2 PDCD1|PDCD1 PDCD1 Systemic lupus erythematosus, susceptibility to, 2 None 600244 605218 2 NA IBD9 IBD9 IBD9 Inflammatory bowel disease 9 None 608448 608448 3 NA MYMY1|MYMY MYMY1|MYMY1 MYMY1 Moyamoya disease Autosomal recessive 252350 252350 3 max lod at D3S3050 TRNT1|SIFD|RPEM TRNT1|NA|NA TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Autosomal recessive 612907 616084 3 pseudogenes on chromosomes 1 and 22 @@ -1048,45 +1058,45 @@ ITPR1|SCA15|SCA16|SCA29 ITPR1|ITPR1|ITPR1|ITPR1 ITPR1 Spinocerebellar ataxia 29, ITPR1|SCA15|SCA16|SCA29 ITPR1|ITPR1|ITPR1|ITPR1 ITPR1 Spinocerebellar ataxia 15 Autosomal dominant 147265 606658 3 NA ITPR1|SCA15|SCA16|SCA29 ITPR1|ITPR1|ITPR1|ITPR1 ITPR1 Gillespie syndrome None 147265 206700 3 NA ST11|PETS1 ST11|ST11 ST11 ?Pancreatic endocrine tumors None 602011 NA 3 NA +CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Creatine phosphokinase, elevated serum Autosomal dominant 601253 123320 3 within 7-10kb of OXTR +CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Cardiomyopathy, familial hypertrophic Autosomal dominant 601253 192600 3 within 7-10kb of OXTR CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Rippling muscle disease Autosomal dominant 601253 606072 3 within 7-10kb of OXTR CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Myopathy, distal, Tateyama type Autosomal dominant 601253 614321 3 within 7-10kb of OXTR CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Muscular dystrophy, limb-girdle, type IC Autosomal dominant; Autosomal recessive 601253 607801 3 within 7-10kb of OXTR CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Long QT syndrome 9 None 601253 611818 3 within 7-10kb of OXTR -CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Creatine phosphokinase, elevated serum Autosomal dominant 601253 123320 3 within 7-10kb of OXTR -CAV3|LGMD1C|LQT9 CAV3|CAV3|CAV3 CAV3 Cardiomyopathy, familial hypertrophic Autosomal dominant 601253 192600 3 within 7-10kb of OXTR SETD5|KIAA1757 SETD5|NA SETD5 Mental retardation, autosomal dominant 23 Autosomal dominant 615743 615761 3 NA MTMR14|C3orf29|HJUMPY MTMR14|MTMR14|NA MTMR14 Centronuclear myopathy, autosomal, modifier of Autosomal dominant 611089 160150 3 NA OGG1 OGG1 OGG1 Renal cell carcinoma, clear cell, somatic None 601982 144700 3 NA CIDEC|FSP27|CIDE3|FPLD5 CIDEC|NA|NA|NA CIDEC ?Lipodystrophy, familial partial, type 5 Autosomal recessive 612120 615238 3 1 patient identified with mutation JAGN1|SCN6 JAGN1|NA JAGN1 Neutropenia, severe congenital, 6, autosomal recessive Autosomal recessive 616012 616022 3 NA IL17RC|IL17RL|CANDF9 IL17RC|NA|NA IL17RC Candidiasis, familial, 9 Autosomal recessive 610925 616445 3 NA -CRELD1|AVSD2 CRELD1|CRELD1 CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome Autosomal dominant 607170 606217 3 NA CRELD1|AVSD2 CRELD1|CRELD1 CRELD1 Atrioventricular septal defect, susceptibility to, 2 Autosomal dominant 607170 606217 3 NA +CRELD1|AVSD2 CRELD1|CRELD1 CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome Autosomal dominant 607170 606217 3 NA FANCD2|FANCD|FACD|FAD FANCD2|BRCA2,FANCD2|BRCA2,FANCD2|BRCA2,FANCD2,PSEN1 PSEN1,BRCA2,FANCD2 Fanconi anemia, complementation group D2 Autosomal recessive 613984 227646 3 NA +VHL VHL VHL Hemangioblastoma, cerebellar, somatic None 608537 NA 3 NA +VHL VHL VHL Erythrocytosis, familial, 2 Autosomal recessive 608537 263400 3 NA VHL VHL VHL von Hippel-Lindau syndrome Autosomal dominant 608537 193300 3 NA VHL VHL VHL Renal cell carcinoma, somatic None 608537 144700 3 NA VHL VHL VHL Pheochromocytoma Autosomal dominant 608537 171300 3 NA -VHL VHL VHL Hemangioblastoma, cerebellar, somatic None 608537 NA 3 NA -VHL VHL VHL Erythrocytosis, familial, 2 Autosomal recessive 608537 263400 3 NA GHRL GHRL GHRL Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 605353 601665 3 NA ATP2B2|PMCA2 ATP2B2,ATP2B4|ATP2B2 ATP2B2,ATP2B4 Deafness, autosomal recessive 12, modifier of Autosomal recessive 108733 601386 3 NA SLC6A1|GABATR|MAE SLC6A1|SLC6A1|NA SLC6A1 Myoclonic-atonic epilepsy Autosomal dominant 137165 616421 3 NA SYN2 SYN2 SYN2 Schizophrenia, susceptibility to Autosomal dominant 600755 181500 3 NA -PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Obesity, severe Autosomal dominant; Autosomal recessive; Multifactorial 601487 601665 3 PPARG1, PPARG2 from same gene -PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Lipodystrophy, familial partial, type 3 Autosomal dominant 601487 604367 3 PPARG1, PPARG2 from same gene -PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Insulin resistance, severe, digenic Autosomal dominant 601487 604367 3 PPARG1, PPARG2 from same gene PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Carotid intimal medial thickness 1 None 601487 609338 3 PPARG1, PPARG2 from same gene PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Diabetes, type 2 Autosomal dominant 601487 125853 3 PPARG1, PPARG2 from same gene PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Obesity, resistance to None 601487 NA 3 PPARG1, PPARG2 from same gene +PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Obesity, severe Autosomal dominant; Autosomal recessive; Multifactorial 601487 601665 3 PPARG1, PPARG2 from same gene +PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Lipodystrophy, familial partial, type 3 Autosomal dominant 601487 604367 3 PPARG1, PPARG2 from same gene +PPARG|PPARG1|PPARG2|CIMT1|GLM1 PPARG|PPARG|PPARG|NA|NA PPARG Insulin resistance, severe, digenic Autosomal dominant 601487 604367 3 PPARG1, PPARG2 from same gene TSEN2|SEN2|PCH2B TSEN2|SEN2,TSEN2|NA SEN2,TSEN2 Pontocerebellar hypoplasia type 2B Autosomal recessive 608753 612389 3 NA -RAF1|CRAF|NS5|CMD1NN RAF1|RAF1|NA|NA RAF1 Noonan syndrome 5 None 164760 611553 3 NA RAF1|CRAF|NS5|CMD1NN RAF1|RAF1|NA|NA RAF1 LEOPARD syndrome 2 None 164760 611554 3 NA RAF1|CRAF|NS5|CMD1NN RAF1|RAF1|NA|NA RAF1 Cardiomyopathy, dilated, 1NN Autosomal dominant 164760 615916 3 NA +RAF1|CRAF|NS5|CMD1NN RAF1|RAF1|NA|NA RAF1 Noonan syndrome 5 None 164760 611553 3 NA LGMD1H LGMD1H LGMD1H Muscular dystrophy, limb-girdle, type 1H Autosomal dominant 613530 613530 3 between D3S1263 and D3S1277 WNT7A WNT7A WNT7A Ulna and fibula, absence of, with severe limb deficiency Autosomal recessive 601570 276820 3 NA WNT7A WNT7A WNT7A Fuhrmann syndrome Autosomal recessive 601570 228930 3 NA -TMEM43|ARVD5|ARVC5|EDMD7 TMEM43|TMEM43|NA|NA TMEM43 Arrhythmogenic right ventricular dysplasia 5 Autosomal dominant 612048 604400 3 NA TMEM43|ARVD5|ARVC5|EDMD7 TMEM43|TMEM43|NA|NA TMEM43 Emery-Dreifuss muscular dystrophy 7, AD Autosomal dominant 612048 614302 3 NA +TMEM43|ARVD5|ARVC5|EDMD7 TMEM43|TMEM43|NA|NA TMEM43 Arrhythmogenic right ventricular dysplasia 5 Autosomal dominant 612048 604400 3 NA XPC|XPCC XPC|XPC XPC Xeroderma pigmentosum, group C Autosomal recessive 613208 278720 3 NA CCDC174|HSPC212|IHPM CCDC174|NA|NA CCDC174 Hypotonia, infantile, with psychomotor retardation Autosomal recessive 616735 616816 3 NA COLQ|EAD|CMS5 COLQ|COLQ|NA COLQ Myasthenic syndrome, congenital, 5 Autosomal recessive 603033 603034 3 NA @@ -1095,60 +1105,61 @@ TRICY1 TRICY1 TRICY1 Trichilemmal cyst 1 Autosomal dominant 609649 609649 3 max DAZL|DAZH|SPGYLA DAZL|DAZL|DAZL DAZL Spermatogenic failure, susceptibility to None 601486 NA 3 ?founding member of DAZ gene family SGOL1|SGO|SGO1|CAID SGOL1|NA|NA|NA SGOL1 Chronic atrial and intestinal dysrhythmia Autosomal recessive 609168 616201 3 NA RPL15|DBA12 RPL15|NA RPL15 ?Diamond-Blackfan anemia 12 Autosomal dominant 604174 615550 3 mutation identified in 1 family +THRB|ERBA2|THR1|PRTH THRB|THRB|THRB|THRB THRB Thyroid hormone resistance Autosomal dominant 190160 188570 3 NA THRB|ERBA2|THR1|PRTH THRB|THRB|THRB|THRB THRB Thyroid hormone resistance, selective pituitary Autosomal dominant 190160 145650 3 NA THRB|ERBA2|THR1|PRTH THRB|THRB|THRB|THRB THRB Thyroid hormone resistance, autosomal recessive Autosomal recessive 190160 274300 3 NA -THRB|ERBA2|THR1|PRTH THRB|THRB|THRB|THRB THRB Thyroid hormone resistance Autosomal dominant 190160 188570 3 NA RARB|HAP|MCOPS12 RARB|RARB,RTN3|NA RARB,RTN3 Microphthalmia, syndromic 12 Autosomal dominant 180220 615524 3 = HAP = HBV-activated protein NGLY1|PNG1|CDDG|CDG1V NGLY1|NGLY1|NA|NA NGLY1 Congenital disorder of deglycosylation Autosomal recessive 610661 615273 3 NA +TGFBR2|HNPCC6|AAT3|MFS2|LDS2 TGFBR2|NA|NA|TGFBR2|NA TGFBR2 Loeys-Dietz syndrome 2 Autosomal dominant 190182 610168 3 NA TGFBR2|HNPCC6|AAT3|MFS2|LDS2 TGFBR2|NA|NA|TGFBR2|NA TGFBR2 Esophageal cancer, somatic None 190182 133239 3 NA TGFBR2|HNPCC6|AAT3|MFS2|LDS2 TGFBR2|NA|NA|TGFBR2|NA TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6 None 190182 614331 3 NA -TGFBR2|HNPCC6|AAT3|MFS2|LDS2 TGFBR2|NA|NA|TGFBR2|NA TGFBR2 Loeys-Dietz syndrome 2 Autosomal dominant 190182 610168 3 NA STT3B|SIMP|CDG1X STT3B|STT3B|NA STT3B ?Congenital disorder of glycosylation, type Ix Autosomal recessive 608605 615597 3 mutation identified in 1 family GPD1L|KIAA0089 GPD1L|GPD1L GPD1L Brugada syndrome 2 None 611778 611777 3 NA +GLB1|MPS4B GLB1|NA GLB1 Mucopolysaccharidosis type IVB (Morquio) Autosomal recessive 611458 253010 3 3p14.2-p11 excluded GLB1|MPS4B GLB1|NA GLB1 GM1-gangliosidosis, type III Autosomal recessive 611458 230650 3 3p14.2-p11 excluded GLB1|MPS4B GLB1|NA GLB1 GM1-gangliosidosis, type II Autosomal recessive 611458 230600 3 3p14.2-p11 excluded GLB1|MPS4B GLB1|NA GLB1 GM1-gangliosidosis, type I Autosomal recessive 611458 230500 3 3p14.2-p11 excluded -GLB1|MPS4B GLB1|NA GLB1 Mucopolysaccharidosis type IVB (Morquio) Autosomal recessive 611458 253010 3 3p14.2-p11 excluded CRTAP|CASP|OI7 CRTAP|CRTAP,CUX1,CYTIP|NA CUX1,CYTIP,CRTAP Osteogenesis imperfecta, type VII Autosomal recessive 605497 610682 3 NA DDH2 AKR1C2 AKR1C2 Developmental dysplasia of the hip 2 Autosomal dominant 615612 615612 3 between rs4481097 and rs4626072 -MLH1|COCA2|HNPCC2 MLH1|MLH1|MLH1 MLH1 Muir-Torre syndrome Autosomal dominant 120436 158320 3 NA MLH1|COCA2|HNPCC2 MLH1|MLH1|MLH1 MLH1 Mismatch repair cancer syndrome Autosomal recessive 120436 276300 3 NA MLH1|COCA2|HNPCC2 MLH1|MLH1|MLH1 MLH1 Colorectal cancer, hereditary nonpolyposis, type 2 None 120436 609310 3 NA +MLH1|COCA2|HNPCC2 MLH1|MLH1|MLH1 MLH1 Muir-Torre syndrome Autosomal dominant 120436 158320 3 NA PLCD1|NDNC3 PLCD1|NA PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia) Autosomal dominant; Autosomal recessive 602142 151600 3 NA -DLEC1|DLC1 DLEC1|DLC1,DLEC1,DYNLL1 DLEC1,DYNLL1,DLC1 Lung cancer Autosomal recessive 604050 211980 3 NA DLEC1|DLC1 DLEC1|DLC1,DLEC1,DYNLL1 DLEC1,DYNLL1,DLC1 Esophageal cancer Autosomal dominant 604050 133239 3 NA +DLEC1|DLC1 DLEC1|DLC1,DLEC1,DYNLL1 DLEC1,DYNLL1,DLC1 Lung cancer Autosomal recessive 604050 211980 3 NA MYD88|MYD88D MYD88|NA MYD88 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency None 602170 612260 3 NA MYD88|MYD88D MYD88|NA MYD88 Macroglobulinemia, Waldenstrom, somatic None 602170 153600 3 NA ACVR2B|ACTRIIB|HTX4 ACVR2B|NA|NA ACVR2B Heterotaxy, visceral, 4, autosomal None 602730 613751 3 NA +SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Atrial fibrillation, familial, 10 Autosomal dominant 600163 614022 3 NA +SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Long QT syndrome-3 Autosomal dominant 600163 603830 3 NA +SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Heart block, progressive, type IA Autosomal dominant 600163 113900 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Heart block, nonprogressive Autosomal dominant 600163 113900 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Sudden infant death syndrome, susceptibility to Autosomal recessive 600163 272120 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Cardiomyopathy, dilated, 1E Autosomal dominant 600163 601154 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Ventricular fibrillation, familial, 1 None 600163 603829 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Brugada syndrome 1 Autosomal dominant 600163 601144 3 NA SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Sick sinus syndrome 1 Autosomal recessive 600163 608567 3 NA -SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Atrial fibrillation, familial, 10 Autosomal dominant 600163 614022 3 NA -SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Long QT syndrome-3 Autosomal dominant 600163 603830 3 NA -SCN5A|LQT3|VF1|HB1|SSS1|CMD1E|CDCD2 SCN5A|SCN5A|NA|SCN5A|SCN5A,SEC61G|SCN5A|SCN5A SEC61G,SCN5A Heart block, progressive, type IA Autosomal dominant 600163 113900 3 NA SCN10A|FEPS2 SCN10A|NA SCN10A Episodic pain syndrome, familial, 2 Autosomal dominant 604427 615551 3 NA -SCN11A|HSAN7|FEPS3 SCN11A|NA|NA SCN11A Episodic pain syndrome, familial, 3 Autosomal dominant 604385 615552 3 NA SCN11A|HSAN7|FEPS3 SCN11A|NA|NA SCN11A Neuropathy, hereditary sensory and autonomic, type VII Autosomal dominant 604385 615548 3 NA -CX3CR1|GPR13|V28 CX3CR1|CX3CR1|CX3CR1 CX3CR1 Rapid progression to AIDS from HIV1 infection None 601470 609423 3 NA +SCN11A|HSAN7|FEPS3 SCN11A|NA|NA SCN11A Episodic pain syndrome, familial, 3 Autosomal dominant 604385 615552 3 NA CX3CR1|GPR13|V28 CX3CR1|CX3CR1|CX3CR1 CX3CR1 Macular degeneration, age-related, 12 None 601470 613784 3 NA CX3CR1|GPR13|V28 CX3CR1|CX3CR1|CX3CR1 CX3CR1 Coronary artery disease, resistance to None 601470 607339 3 NA +CX3CR1|GPR13|V28 CX3CR1|CX3CR1|CX3CR1 CX3CR1 Rapid progression to AIDS from HIV1 infection None 601470 609423 3 NA SLC25A38|SIDBA2 SLC25A38|NA SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory Autosomal recessive 610819 205950 3 NA RPSA|LAMR1|LAMBR|ICAS RPSA|RPSA|NA|NA RPSA Asplenia, isolated congenital Autosomal dominant 150370 271400 3 NA +CTNNB1|MRD19 CTNNB1|NA CTNNB1 Hepatocellular carcinoma, somatic None 116806 114550 3 NA +CTNNB1|MRD19 CTNNB1|NA CTNNB1 Colorectal cancer, somatic None 116806 114500 3 NA CTNNB1|MRD19 CTNNB1|NA CTNNB1 Pilomatricoma, somatic None 116806 132600 3 NA CTNNB1|MRD19 CTNNB1|NA CTNNB1 Ovarian cancer, somatic None 116806 167000 3 NA CTNNB1|MRD19 CTNNB1|NA CTNNB1 Mental retardation, autosomal dominant 19 Autosomal dominant 116806 615075 3 NA -CTNNB1|MRD19 CTNNB1|NA CTNNB1 Hepatocellular carcinoma, somatic None 116806 114550 3 NA -CTNNB1|MRD19 CTNNB1|NA CTNNB1 Colorectal cancer, somatic None 116806 114500 3 NA KLHL40|SYRP|KBTBD5|NEM8 KLHL40|NA|KLHL40|KLHL40 KLHL40 Nemaline myopathy 8, autosomal recessive None 615340 615348 3 NA POMGNT2|GTDC2|C3orf39|AGO61|MDDGA8 POMGNT2|POMGNT2|POMGNT2|POMGNT2|NA POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Autosomal recessive 614828 614830 3 NA ANO10|TMEM16K|SCAR10 ANO10|ANO10|ANO10 ANO10 Spinocerebellar ataxia, autosomal recessive 10 Autosomal recessive 613726 613728 3 NA ABHD5|CGI58|IECN2|NCIE2 ABHD5|NA|NA|ABHD5 ABHD5 Chanarin-Dorfman syndrome Autosomal recessive 604780 275630 3 NA -LARS2|PRLTS4 LARS2|NA LARS2 Perrault syndrome 4 Autosomal recessive 604544 615300 3 NA -SLC6A20|XT3 SLC6A20|SLC6A20 SLC6A20 Iminoglycinuria, digenic Autosomal recessive 605616 242600 3 NA +LARS2|PRLTS4|HLASA LARS2|NA|NA LARS2 Perrault syndrome 4 Autosomal recessive 604544 615300 3 mutation identified in 1 HLASA patient +LARS2|PRLTS4|HLASA LARS2|NA|NA LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia Autosomal recessive 604544 617021 3 mutation identified in 1 HLASA patient SLC6A20|XT3 SLC6A20|SLC6A20 SLC6A20 Hyperglycinuria Autosomal dominant 605616 138500 3 NA +SLC6A20|XT3 SLC6A20|SLC6A20 SLC6A20 Iminoglycinuria, digenic Autosomal recessive 605616 242600 3 NA LZTFL1|BBS17 LZTFL1|LZTFL1 LZTFL1 Bardet-Biedl syndrome 17 Autosomal recessive 606568 615994 3 NA FYCO1|CATC2|CTRCT18 FYCO1|NA|NA FYCO1 Cataract 18, autosomal recessive Autosomal recessive 607182 610019 3 NA CCR2|CMKBR2 CCR2|CCR2 CCR2 HIV infection, susceptibility/resistance to None 601267 NA 3 NA @@ -1159,40 +1170,41 @@ CCR5|CMKBR5|CCCKR5|IDDM22 CCR5|CCR5|NA|CCR5 CCR5 Diabetes mellitus, insulin-depe TDGF1 TDGF1 TDGF1 Forebrain defects None 187395 NA 3 NA TMIE|DFNB6 TMIE|OTOF,TMIE OTOF,TMIE Deafness, autosomal recessive 6 Autosomal recessive 607237 600971 3 NA MYL3|CMH8 MYL3|MYL3 MYL3 Cardiomyopathy, hypertrophic, 8 None 160790 608751 3 NA -PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Chondrodysplasia, Blomstrand type Autosomal recessive 168468 215045 3 NA -PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Metaphyseal chondrodysplasia, Murk Jansen type Autosomal dominant 168468 156400 3 NA PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Failure of tooth eruption, primary Autosomal dominant 168468 125350 3 NA PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Eiken syndrome Autosomal recessive 168468 600002 3 NA +PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Chondrodysplasia, Blomstrand type Autosomal recessive 168468 215045 3 NA +PTHR1|PTHR|PFE PTH1R|PTH1R,PTHLH|NA PTH1R,PTHLH Metaphyseal chondrodysplasia, Murk Jansen type Autosomal dominant 168468 156400 3 NA NBEAL2|KIAA0540|GPS|BDPLT4 NBEAL2|NBEAL2|NA|NA NBEAL2 Gray platelet syndrome Autosomal recessive 614169 139090 3 NA SETD2|SET2|HYPB|HBP231|KIAA1732|LLS SETD2|NA|SETD2|NA|SETD2|NA SETD2 Luscan-Lumish syndrome Autosomal dominant 612778 616831 3 NA TREX1|AGS1|CRV|HERNS TREX1|RASD1,TREX1|NA|NA TREX1,RASD1 Systemic lupus erythematosus, susceptibility to Autosomal dominant 606609 152700 3 NA TREX1|AGS1|CRV|HERNS TREX1|RASD1,TREX1|NA|NA TREX1,RASD1 Vasculopathy, retinal, with cerebral leukodystrophy Autosomal dominant 606609 192315 3 NA TREX1|AGS1|CRV|HERNS TREX1|RASD1,TREX1|NA|NA TREX1,RASD1 Chilblain lupus Autosomal dominant 606609 610448 3 NA TREX1|AGS1|CRV|HERNS TREX1|RASD1,TREX1|NA|NA TREX1,RASD1 Aicardi-Goutieres syndrome 1, dominant and recessive Autosomal dominant; Autosomal recessive 606609 225750 3 NA +COL7A1|NDNC8 COL7A1|NA COL7A1 EBD, Bart type Autosomal dominant 120120 132000 3 NA +COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa, pretibial Autosomal dominant; Autosomal recessive 120120 131850 3 NA +COL7A1|NDNC8 COL7A1|NA COL7A1 EBD inversa Autosomal recessive 120120 226600 3 NA +COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa pruriginosa Autosomal dominant; Autosomal recessive 120120 604129 3 NA COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa dystrophica, AR Autosomal recessive 120120 226600 3 NA COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa dystrophica, AD Autosomal dominant 120120 131750 3 NA COL7A1|NDNC8 COL7A1|NA COL7A1 Transient bullous of the newborn Autosomal dominant; Autosomal recessive 120120 131705 3 NA COL7A1|NDNC8 COL7A1|NA COL7A1 EBD, localisata variant None 120120 NA 3 NA COL7A1|NDNC8 COL7A1|NA COL7A1 Toenail dystrophy, isolated Autosomal dominant 120120 607523 3 NA -COL7A1|NDNC8 COL7A1|NA COL7A1 EBD, Bart type Autosomal dominant 120120 132000 3 NA -COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa, pretibial Autosomal dominant; Autosomal recessive 120120 131850 3 NA -COL7A1|NDNC8 COL7A1|NA COL7A1 EBD inversa Autosomal recessive 120120 226600 3 NA -COL7A1|NDNC8 COL7A1|NA COL7A1 Epidermolysis bullosa pruriginosa Autosomal dominant; Autosomal recessive 120120 604129 3 NA SLC25A20|CACT|CAC SLC25A20|SLC25A20|SLC25A20 SLC25A20 Carnitine-acylcarnitine translocase deficiency Autosomal recessive 613698 212138 3 pseudogene on 6p12 -NDUFAF3 NDUFAF3 NDUFAF3 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 612911 252010 3 NA +NDUFAF3 NDUFAF3 NDUFAF3 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 612911 252010 3 NA IMPDH2|IMPD2 IMPDH2|NA IMPDH2 IMPDH2 enzyme activity, variation in None 146691 NA 3 NA QARS|GLNRS|MSCCA EPRS,QARS|NA|NA EPRS,QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Autosomal recessive 603727 615760 3 NA -LAMB2|LAMS|NPHS5 LAMB2,LAMC1|LAMB2|NA LAMB2,LAMC1 Pierson syndrome Autosomal recessive 150325 609049 3 NA LAMB2|LAMS|NPHS5 LAMB2,LAMC1|LAMB2|NA LAMB2,LAMC1 Nephrotic syndrome, type 5, with or without ocular abnormalities None 150325 614199 3 NA +LAMB2|LAMS|NPHS5 LAMB2,LAMC1|LAMB2|NA LAMB2,LAMC1 Pierson syndrome Autosomal recessive 150325 609049 3 NA KLHDC8B|CHL KLHDC8B|CHRDL1 CHRDL1,KLHDC8B Hodgkin lymphoma, susceptibility to Autosomal recessive 613169 236000 3 NA GPX1|GPXD GPX1|NA GPX1 Hemolytic anemia due to glutathione peroxidase deficiency Autosomal recessive 138320 614164 3 ?pseudogene on 3p11-p12 AMT|NKH|GCE AMT|AMT,GLDC|NA GLDC,AMT Glycine encephalopathy Autosomal recessive 238310 605899 3 NA -DAG1|DAG|MDDGC9|MDDGA9 DAG1|DAG1|NA|NA DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Autosomal recessive 128239 616538 3 NA DAG1|DAG|MDDGC9|MDDGA9 DAG1|DAG1|NA|NA DAG1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 Autosomal recessive 128239 613818 3 NA -GMPPB|KIAA1851|MDDGA14|MDDGB14|MDDGC14 GMPPB|GMPPB|NA|NA|NA GMPPB Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 Autosomal recessive 615320 615352 3 NA +DAG1|DAG|MDDGC9|MDDGA9 DAG1|DAG1|NA|NA DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Autosomal recessive 128239 616538 3 NA GMPPB|KIAA1851|MDDGA14|MDDGB14|MDDGC14 GMPPB|GMPPB|NA|NA|NA GMPPB Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 Autosomal recessive 615320 615351 3 NA GMPPB|KIAA1851|MDDGA14|MDDGB14|MDDGC14 GMPPB|GMPPB|NA|NA|NA GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Autosomal recessive 615320 615350 3 NA +GMPPB|KIAA1851|MDDGA14|MDDGB14|MDDGC14 GMPPB|GMPPB|NA|NA|NA GMPPB Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 Autosomal recessive 615320 615352 3 NA TRAIP|TRIP|RNF206|SCKL9 TRAIP|LRRFIP1,TRAIP|TRAIP|NA TRAIP,LRRFIP1 Seckel syndrome 9 Autosomal recessive 605958 616777 3 NA +MST1R|RON|NPCA3 MST1R|MST1R|NA MST1R Nasopharyngeal carcinoma, susceptibility to, 3 Autosomal dominant 600168 617075 3 NA GNAT1|CSNBAD3|CSNB1G GNAT1|GNAT1|NA GNAT1 Night blindness, congenital stationary, autosomal dominant 3 Autosomal dominant 139330 610444 3 mutation identified in 1 CSNG1G family GNAT1|CSNBAD3|CSNB1G GNAT1|GNAT1|NA GNAT1 ?Night blindness, congenital stationary, type 1G Autosomal recessive 139330 616389 3 mutation identified in 1 CSNG1G family GNAI2|GNAI2B|GIP GNAI2|GNAI2|C1QTNF1,GIP,GNAI2 C1QTNF1,GNAI2,GIP Ventricular tachycardia, idiopathic Autosomal dominant 139360 192605 3 on 12p13-p12, GNAI2L @@ -1200,9 +1212,11 @@ GNAI2|GNAI2B|GIP GNAI2|GNAI2|C1QTNF1,GIP,GNAI2 C1QTNF1,GNAI2,GIP Pituitary ACTH- HYAL1|MPS9 HYAL1|NA HYAL1 ?Mucopolysaccharidosis type IX Autosomal recessive 607071 601492 3 mutation identified in 1 MPS9 patient RASSF1 RASSF1 RASSF1 Lung cancer Autosomal recessive 605082 211980 3 epigenetically inactivated ZMYND10|BLU ZMYND10|ZMYND10 ZMYND10 Ciliary dyskinesia, primary, 22 Autosomal recessive 607070 615444 3 NA +NPR2L|NPRL2|FFEVF2 NPRL2|NPRL2|NA NPRL2 Epilepsy, familial focal, with variable foci 2 Autosomal dominant 607072 617116 3 NA CISH|BACTS2 CISH|NA CISH Bacteremia, susceptibility to None 602441 614383 3 NA CISH|BACTS2 CISH|NA CISH Tuberculosis, susceptibility to None 602441 607948 3 NA CISH|BACTS2 CISH|NA CISH Malaria, susceptibility to None 602441 611162 3 NA +MAPKAP3|3PK|MDPT3 MAPKAPK3|MAPKAPK3|NA MAPKAPK3 ?Macular dystrophy, patterned, 3 Autosomal dominant 602130 617111 3 mutation identified in 1 MDPT3 family ACY1|ACY1D ACY1|NA ACY1 Aminoacylase 1 deficiency Autosomal recessive 104620 609924 3 NA POC1A|PIX2|SOFT POC1A|NA|NA POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Autosomal recessive 614783 614813 3 NA GLYCTK|GLYCTK1 GLYCTK|NA GLYCTK D-glyceric aciduria Autosomal recessive 610516 220120 3 NA @@ -1212,68 +1226,69 @@ TNNC1|CMD1Z|CMH13 TNNC1,TNNI3|NA|NA TNNC1,TNNI3 Cardiomyopathy, dilated, 1Z None ITIH4|PK120|ITIHL1 ITIH4|NA|ITIH4 ITIH4 Hypercholesterolemia, susceptibility to Autosomal dominant 600564 143890 3 NA RFT1|CDG1N RFT1|RFT1 RFT1 Congenital disorder of glycosylation, type In Autosomal recessive 611908 612015 3 NA PRKCD|CVID9|ALPS3 PRKCD|NA|NA PRKCD Autoimmune lymphoproliferative syndrome, type III Autosomal recessive 176977 615559 3 mutation identified in 1 family +TKT|SDDHD DDR2,TKT|NA DDR2,TKT Short stature, developmental delay, and congenital heart defects Autosomal recessive 606781 617044 3 NA CACNA1D|CACNL1A2|CCHL1A2|SANDD|PASNA CACNA1D|CACNA1D|CACNA1D|NA|NA CACNA1D Sinoatrial node dysfunction and deafness Autosomal recessive 114206 614896 3 NA CACNA1D|CACNL1A2|CCHL1A2|SANDD|PASNA CACNA1D|CACNA1D|CACNA1D|NA|NA CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities Autosomal dominant 114206 615474 3 NA WNT5A WNT5A WNT5A Robinow syndrome, autosomal dominant 1 Autosomal dominant 164975 180700 3 NA IL17RD|SEF|HH18 IL17RD|IL17RD|NA IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia Autosomal dominant 606807 615267 3 NA -HESX1|RPX|CPHD5 HESX1|HESX1|NA HESX1 Growth hormone deficiency with pituitary anomalies Autosomal dominant; Autosomal recessive 601802 182230 3 NA HESX1|RPX|CPHD5 HESX1|HESX1|NA HESX1 Septooptic dysplasia Autosomal dominant; Autosomal recessive 601802 182230 3 NA HESX1|RPX|CPHD5 HESX1|HESX1|NA HESX1 Pituitary hormone deficiency, combined, 5 Autosomal dominant; Autosomal recessive 601802 182230 3 NA +HESX1|RPX|CPHD5 HESX1|HESX1|NA HESX1 Growth hormone deficiency with pituitary anomalies Autosomal dominant; Autosomal recessive 601802 182230 3 NA APPL1|APPL|MODY14 APPL1|APPL1|NA APPL1 Maturity-onset diabetes of the young, type 14 Autosomal dominant 604299 616511 3 NA +FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Atelosteogenesis, type III Autosomal dominant 603381 108721 3 NA +FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Atelosteogenesis, type I Autosomal dominant 603381 108720 3 NA FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Spondylocarpotarsal synostosis syndrome Autosomal recessive 603381 272460 3 NA FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Larsen syndrome Autosomal dominant 603381 150250 3 NA FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Boomerang dysplasia Autosomal dominant 603381 112310 3 NA -FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Atelosteogenesis, type III Autosomal dominant 603381 108721 3 NA -FLNB|SCT|AOI|LRS1 FLNB|SCT|NA|FLNB SCT,FLNB Atelosteogenesis, type I Autosomal dominant 603381 108720 3 NA DNASE1L3|SLEB16 DNASE1L3|NA DNASE1L3 Systemic lupus erythematosus 16 Autosomal recessive 602244 614420 3 NA PDHB|PDHBD PDHB|NA PDHB Pyruvate dehydrogenase E1-beta deficiency None 179060 614111 3 NA ATXN7|SCA7|OPCA3 ATXN7|ATXN7|ATXN7 ATXN7 Spinocerebellar ataxia 7 Autosomal dominant 607640 164500 3 NA SLC25A26|SAMC|COXPD28 SLC25A26|NA|NA SLC25A26 Combined oxidative phosphorylation deficiency 28 Autosomal recessive 611037 616794 3 NA EOGT|EOGT1|C3orf64|AOS4 EOGT|NA|EOGT|NA EOGT Adams-Oliver syndrome 4 Autosomal recessive 614789 615297 3 NA LMOD3|NEM10 LMOD3|NA LMOD3 Nemaline myopathy 10 Autosomal recessive 616112 616165 3 NA -MITF|WS2A|CMM8 MITF|MITF|NA MITF Tietz albinism-deafness syndrome Autosomal dominant 156845 103500 3 NA -MITF|WS2A|CMM8 MITF|MITF|NA MITF Melanoma, cutaneous malignant, susceptibility to, 8 None 156845 614456 3 NA MITF|WS2A|CMM8 MITF|MITF|NA MITF Waardenburg syndrome/ocular albinism, digenic Autosomal dominant 156845 103470 3 NA MITF|WS2A|CMM8 MITF|MITF|NA MITF Waardenburg syndrome, type 2A Autosomal dominant 156845 193510 3 NA +MITF|WS2A|CMM8 MITF|MITF|NA MITF Tietz albinism-deafness syndrome Autosomal dominant 156845 103500 3 NA +MITF|WS2A|CMM8 MITF|MITF|NA MITF Melanoma, cutaneous malignant, susceptibility to, 8 None 156845 614456 3 NA FOXP1|QRF1 FOXP1|FOXP1 FOXP1 Mental retardation with language impairment and with or without autistic features Autosomal dominant 605515 613670 3 NA PROK2|PK2|BV8|HH4 PROK2|PROK2|PROK2|NA PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia Autosomal dominant 607002 610628 3 NA DYX5 DYX5 DYX5 Dyslexia, susceptibility to, 5 None 606896 606896 3 ?same locus as SSD ROBO2|SAX3|KIAA1568 ROBO2|ROBO1|ROBO2 ROBO1,ROBO2 Vesicoureteral reflux 2 None 602431 610878 3 NA -GBE1|GSD4|APBD GBE1|NA|NA GBE1 Polyglucosan body disease, adult form Autosomal recessive 607839 263570 3 NA GBE1|GSD4|APBD GBE1|NA|NA GBE1 Glycogen storage disease IV Autosomal recessive 607839 232500 3 NA -CHMP2B|DMT1|VPS2B|ALS17 CHMP2B|DMRT1,SLC11A2|CHMP2B|NA CHMP2B,DMRT1,SLC11A2 Amyotrophic lateral sclerosis 17 Autosomal dominant 609512 614696 3 NA +GBE1|GSD4|APBD GBE1|NA|NA GBE1 Polyglucosan body disease, adult form Autosomal recessive 607839 263570 3 NA CHMP2B|DMT1|VPS2B|ALS17 CHMP2B|DMRT1,SLC11A2|CHMP2B|NA CHMP2B,DMRT1,SLC11A2 Dementia, familial, nonspecific Autosomal dominant 609512 600795 3 NA +CHMP2B|DMT1|VPS2B|ALS17 CHMP2B|DMRT1,SLC11A2|CHMP2B|NA CHMP2B,DMRT1,SLC11A2 Amyotrophic lateral sclerosis 17 Autosomal dominant 609512 614696 3 NA POU1F1|PIT1|CPHD1 POU1F1|POU1F1|NA POU1F1 Pituitary hormone deficiency, combined, 1 Autosomal dominant; Autosomal recessive 173110 613038 3 NA PROS1|THPH5|THPH6 PROS1|NA|NA PROS1 Thrombophilia due to protein S deficiency, autosomal recessive Autosomal recessive 176880 614514 3 pseudogene PROSP contiguous on chr.3 PROS1|THPH5|THPH6 PROS1|NA|NA PROS1 Thrombophilia due to protein S deficiency, autosomal dominant Autosomal dominant 176880 612336 3 pseudogene PROSP contiguous on chr.3 -ARL13B|ARL2L1|JBTS8 ARL13B|ARL13B|ARL13B ARL13B Joubert syndrome 8 None 608922 612291 3 NA -ARL6|BBS3|RP55 ARL6|ARL6|ARL6 ARL6 ?Retinitis pigmentosa 55 None 608845 613575 3 mutation identified in 1 RPS55 family +ARL13B|ARL2L1|JBTS8 ARL13B|ARL13B|ARL13B ARL13B Joubert syndrome 8 Autosomal recessive 608922 612291 3 NA ARL6|BBS3|RP55 ARL6|ARL6|ARL6 ARL6 Bardet-Biedl syndrome 1, modifier of Digenic recessive; Autosomal recessive 608845 209900 3 mutation identified in 1 RPS55 family ARL6|BBS3|RP55 ARL6|ARL6|ARL6 ARL6 Bardet-Biedl syndrome 3 Autosomal recessive 608845 600151 3 mutation identified in 1 RPS55 family +ARL6|BBS3|RP55 ARL6|ARL6|ARL6 ARL6 ?Retinitis pigmentosa 55 None 608845 613575 3 mutation identified in 1 RPS55 family CPOX CPOX CPOX Harderoporphyria Autosomal dominant 612732 121300 3 NA CPOX CPOX CPOX Coproporphyria Autosomal dominant 612732 121300 3 NA -TFG|HMSNP|SPG57 TFG|NA|TFG TFG Hereditary motor and sensory neuropathy, Okinawa type Autosomal dominant 602498 604484 3 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family TFG|HMSNP|SPG57 TFG|NA|TFG TFG ?Spastic paraplegia 57, autosomal recessive Autosomal recessive 602498 615658 3 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family +TFG|HMSNP|SPG57 TFG|NA|TFG TFG Hereditary motor and sensory neuropathy, Okinawa type Autosomal dominant 602498 604484 3 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family IMPG2|IPM200|RP56|VMD5 IMPG2|IMPG2|IMPG2|NA IMPG2 Retinitis pigmentosa 56 Autosomal recessive 607056 613581 3 NA IMPG2|IPM200|RP56|VMD5 IMPG2|IMPG2|IMPG2|NA IMPG2 Macular dystrophy, vitelliform, 5 Autosomal dominant 607056 616152 3 NA TRMT10C|RG9MTD1|MRPP1|COXPD30 TRMT10C|TRMT10C|TRMT10C|NA TRMT10C Combined oxidative phosphorylation deficiency 30 Autosomal recessive 615423 616974 3 NA MHS4 MHS4 MHS4 Malignant hyperthermia susceptibility 4 Autosomal dominant 600467 600467 3 NA CD96|TACTILE CD96|CD96 CD96 C syndrome Autosomal recessive 606037 211750 3 NA -DRD3|ETM1|FET1 DRD3|ETM1|ETM1 ETM1,DRD3 Schizophrenia, susceptibility to Autosomal dominant 126451 181500 3 NA DRD3|ETM1|FET1 DRD3|ETM1|ETM1 ETM1,DRD3 Essential tremor, susceptibility to Autosomal dominant 126451 190300 3 NA +DRD3|ETM1|FET1 DRD3|ETM1|ETM1 ETM1,DRD3 Schizophrenia, susceptibility to Autosomal dominant 126451 181500 3 NA ZBTB20|ZNF288|DPZF|PRIMS ZBTB20|ZBTB20|ZBTB20|NA ZBTB20 Primrose syndrome Autosomal dominant 606025 259050 3 NA ARHGAP31|CDGAP|KIAA1204|AOS1 ARHGAP31|ARHGAP31|NA|SAE1 ARHGAP31,SAE1 Adams-Oliver syndrome 1 Autosomal dominant 610911 100300 3 NA POGLUT1|CLP46|KTELC1|RUMI|C3orf9|DDD4 POGLUT1|NA|POGLUT1|NA|POGLUT1|NA POGLUT1 Dowling-Degos disease 4 Autosomal dominant 615618 615696 3 NA HGD|AKU HGD|HGD HGD Alkaptonuria Autosomal recessive 607474 203500 3 NA IQCB1|NPHP5|KIAA0036 IQCB1|IQCB1|IQCB1 IQCB1 Senior-Loken syndrome 5 Autosomal recessive 609237 609254 3 NA ILDR1|DFNB42 ILDR1|ILDR1 ILDR1 Deafness, autosomal recessive 42 Autosomal recessive 609739 609646 3 NA -CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypocalcemia, autosomal dominant, with Bartter syndrome Autosomal dominant 601199 601198 3 15cM from RHO -CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypocalcemia, autosomal dominant Autosomal dominant 601199 601198 3 15cM from RHO CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hyperparathyroidism, neonatal Autosomal recessive 601199 239200 3 15cM from RHO CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Epilepsy idiopathic generalized, susceptibility to, 8 None 601199 612899 3 15cM from RHO CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypercalciuric hypercalcemia None 601199 NA 3 15cM from RHO CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Calcium, serum level of None 601199 NA 3 15cM from RHO CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypocalciuric hypercalcemia, type I Autosomal dominant 601199 145980 3 15cM from RHO +CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypocalcemia, autosomal dominant, with Bartter syndrome Autosomal dominant 601199 601198 3 15cM from RHO +CASR|HHC1|PCAR1|FIH|EIG8|HYPOC1 CASR|CASR|NA|NA|NA|NA CASR Hypocalcemia, autosomal dominant Autosomal dominant 601199 601198 3 15cM from RHO GLC1C GLC1C GLC1C Glaucoma 1C, primary open angle Autosomal dominant 601682 601682 3 NA HCFP1|MBS2 MBS2|MBS2 MBS2 Facial paresis, hereditary congenital, 1 Autosomal dominant 601471 601471 3 NA PSORS5 PSORS5 PSORS5 Psoriasis susceptibility 5 None 604316 604316 3 NA @@ -1285,10 +1300,11 @@ KALRN|HAPIP|DUO|CHDS5 KALRN|KALRN|NA|NA KALRN Coronary heart disease, susceptibi UMPS|OPRT UMPS|NA UMPS Orotic aciduria Autosomal recessive 613891 258900 3 NA UROC1|UROCD UROC1|NA UROC1 ?Urocanase deficiency Autosomal recessive 613012 276880 3 mutation identified in 1 UROCD patient MCM2|CDCL1|DFNA70 MCM2,MCM7|MCM2|NA MCM7,MCM2 ?Deafness, autosomal dominant 70 Autosomal dominant 116945 616968 3 mutation identified in 1 DFNA70 family +SEC61A1|SEC61|HNFJ4 SEC61A1|NA|NA SEC61A1 Hyperuricemic nephropathy, familial juvenile, 4 Autosomal dominant 609213 617056 3 NA +GATA2|DCML|MONOMAC|IMD21 GATA2|NA|NA|NA GATA2 Myelodysplastic syndrome, susceptibility to None 137295 614286 3 NA GATA2|DCML|MONOMAC|IMD21 GATA2|NA|NA|NA GATA2 Leukemia, acute myeloid, susceptibility to Autosomal dominant 137295 601626 3 NA GATA2|DCML|MONOMAC|IMD21 GATA2|NA|NA|NA GATA2 Immunodeficiency 21 Autosomal dominant 137295 614172 3 NA GATA2|DCML|MONOMAC|IMD21 GATA2|NA|NA|NA GATA2 Emberger syndrome Autosomal dominant 137295 614038 3 NA -GATA2|DCML|MONOMAC|IMD21 GATA2|NA|NA|NA GATA2 Myelodysplastic syndrome, susceptibility to None 137295 614286 3 NA RAB7|CMT2B|PSN RAB7A|CMT2B|NA CMT2B,RAB7A Charcot-Marie-Tooth disease, type 2B Autosomal dominant 602298 600882 3 NA ACAD9 ACAD9 ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency Autosomal recessive 611103 611126 3 NA GP9 GP9 GP9 Bernard-Soulier syndrome, type C Autosomal recessive 173515 231200 3 NA @@ -1304,35 +1320,37 @@ RHO|RP4|OPN2|CSNBAD1 RHO|RHO|RHO|RHO RHO Night blindness, congenital stationary, TRH TRH TRH Thyrotropin-releasing hormone deficiency Autosomal recessive 613879 275120 3 NA ATP2C1|BCPM|HHD ATP2C1|ATP2C1|NA ATP2C1 Hailey-Hailey disease Autosomal dominant 604384 169600 3 NA MRPL3|MRL3|COXPD9 MRPL3|MRPL3|NA MRPL3 Combined oxidative phosphorylation deficiency 9 Autosomal recessive 607118 614582 3 NA -NPHP3|NPH3|RHPD1|MKS7 NPHP3|NPHP3,NXPH3|NA|NPHP3 NPHP3,NXPH3 Nephronophthisis 3 Autosomal recessive 608002 604387 3 NA NPHP3|NPH3|RHPD1|MKS7 NPHP3|NPHP3,NXPH3|NA|NPHP3 NPHP3,NXPH3 Meckel syndrome 7 Autosomal recessive 608002 267010 3 NA NPHP3|NPH3|RHPD1|MKS7 NPHP3|NPHP3,NXPH3|NA|NPHP3 NPHP3,NXPH3 Renal-hepatic-pancreatic dysplasia 1 Autosomal recessive 608002 208540 3 NA +NPHP3|NPH3|RHPD1|MKS7 NPHP3|NPHP3,NXPH3|NA|NPHP3 NPHP3,NXPH3 Nephronophthisis 3 Autosomal recessive 608002 604387 3 NA BFSP2|CP49|CP47|CTRCT12 BFSP2|BFSP2|BFSP2|NA BFSP2 Cataract 12, multiple types Autosomal dominant 603212 611597 3 NA TF|TFQTL1 TF|NA TF Atransferrinemia Autosomal recessive 190000 209300 3 NA SLCO2A1|OATP2A1|PGT|SLC21A2|PHOAR2 SLCO2A1|SLCO2A1|SLCO2A1|SLCO2A1|NA SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Autosomal recessive 601460 614441 3 NA CEP63|SCKL6 CEP63|NA CEP63 ?Seckel syndrome 6 Autosomal recessive 614724 614728 3 mutation identified in 1 family +KY|MFM7 KY|NA KY Myopathy, myofibrillar, 7 None 605739 617114 3 NA PCCB PCCB PCCB Propionicacidemia Autosomal recessive 232050 606054 3 pccB complementation group -FOXL2|BPES|BPES1|PFRK|POF3 FOXL2|FOXL2|FOXL2|NA|NA FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1 Autosomal dominant 605597 110100 3 NA FOXL2|BPES|BPES1|PFRK|POF3 FOXL2|FOXL2|FOXL2|NA|NA FOXL2 Premature ovarian failure 3 None 605597 608996 3 NA FOXL2|BPES|BPES1|PFRK|POF3 FOXL2|FOXL2|FOXL2|NA|NA FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 2 Autosomal dominant 605597 110100 3 NA +FOXL2|BPES|BPES1|PFRK|POF3 FOXL2|FOXL2|FOXL2|NA|NA FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1 Autosomal dominant 605597 110100 3 NA MRPS22|C3orf5|COXPD5 MRPS22|MRPS22|NA MRPS22 Combined oxidative phosphorylation deficiency 5 Autosomal recessive 605810 611719 3 NA -ATR|FRP1|SCKL1|FCTCS ANTXR1,ATR,SERPINA2|ATR|ATR|NA ATR,SERPINA2,ANTXR1 Seckel syndrome 1 Autosomal recessive 601215 210600 3 mutation identified in 1 FCTCS family ATR|FRP1|SCKL1|FCTCS ANTXR1,ATR,SERPINA2|ATR|ATR|NA ATR,SERPINA2,ANTXR1 ?Cutaneous telangiectasia and cancer syndrome, familial Autosomal dominant 601215 614564 3 mutation identified in 1 FCTCS family +ATR|FRP1|SCKL1|FCTCS ANTXR1,ATR,SERPINA2|ATR|ATR|NA ATR,SERPINA2,ANTXR1 Seckel syndrome 1 Autosomal recessive 601215 210600 3 mutation identified in 1 FCTCS family SLC9A9|AUTS16 SLC9A9|NA SLC9A9 ?Autism susceptibility 16 None 608396 613410 3 mutation identified in 1 family PLOD2|LH2|TLH|BRKS2 PLOD2|PLOD2|NA|NA PLOD2 Bruck syndrome 2 Autosomal recessive 601865 609220 3 NA ZIC1|CRS6 ZIC1|NA ZIC1 Craniosynostosis 6 Autosomal dominant 600470 616602 3 NA AGTR1|AGTR1A|AT2R1 AGTR1|AGTR1|AGTR1 AGTR1 Hypertension, essential Multifactorial 106165 145500 3 NA AGTR1|AGTR1A|AT2R1 AGTR1|AGTR1|AGTR1 AGTR1 Renal tubular dysgenesis Autosomal recessive 106165 267430 3 NA -GYG1|GSD15 GYG1|NA GYG1 Polyglucosan body myopathy 2 Autosomal recessive 603942 616199 3 mutation identified in 1 GSD15 patient GYG1|GSD15 GYG1|NA GYG1 ?Glycogen storage disease XV Autosomal recessive 603942 613507 3 mutation identified in 1 GSD15 patient +GYG1|GSD15 GYG1|NA GYG1 Polyglucosan body myopathy 2 Autosomal recessive 603942 616199 3 mutation identified in 1 GSD15 patient HPS3 HPS3 HPS3 Hermansky-Pudlak syndrome 3 None 606118 614072 3 NA +CP CP CP Hypoceruloplasminemia, hereditary Autosomal recessive 117700 604290 3 ~15cM from TF CP CP CP Hemosiderosis, systemic, due to aceruloplasminemia Autosomal recessive 117700 604290 3 ~15cM from TF CP CP CP Cerebellar ataxia Autosomal recessive 117700 604290 3 ~15cM from TF -CP CP CP Hypoceruloplasminemia, hereditary Autosomal recessive 117700 604290 3 ~15cM from TF CLRN1|USH3A|USH3|RP61 CLRN1|CLRN1|CLRN1|CLRN1 CLRN1 Usher syndrome, type 3A Autosomal recessive 606397 276902 3 frequent in Finland; ?digenic interaction with MYO7A CLRN1|USH3A|USH3|RP61 CLRN1|CLRN1|CLRN1|CLRN1 CLRN1 Retinitis pigmentosa 61 None 606397 614180 3 frequent in Finland; ?digenic interaction with MYO7A P2RY12|P2Y12|BDPLT8 P2RY12|P2RY12|NA P2RY12 Bleeding disorder, platelet-type, 8 Autosomal recessive 600515 609821 3 NA -MME|CD10|CALLA|NEP|CMT2T MME|MME|MME|DDR1,MME|NA MME,DDR1 Charcot-Marie-Tooth disease, axonal, type 2T None 120520 617017 3 NA +MME|CD10|CALLA|NEP|CMT2T|SCA43 MME|MME|MME|DDR1,MME|NA|NA MME,DDR1 ?Spinocerebellar ataxia 43 Autosomal dominant 120520 617018 3 mutation identified in 1 SCA43 family +MME|CD10|CALLA|NEP|CMT2T|SCA43 MME|MME|MME|DDR1,MME|NA|NA MME,DDR1 Charcot-Marie-Tooth disease, axonal, type 2T Autosomal recessive 120520 617017 3 mutation identified in 1 SCA43 family SLC33A1|ACATN|AT1|SPG42|CCHLND SLC33A1|SLC33A1|AGTR1,SLC33A1|SLC33A1|NA AGTR1,SLC33A1 Spastic paraplegia 42, autosomal dominant Autosomal dominant 603690 612539 3 NA SLC33A1|ACATN|AT1|SPG42|CCHLND SLC33A1|SLC33A1|AGTR1,SLC33A1|SLC33A1|NA AGTR1,SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration Autosomal recessive 603690 614482 3 NA MLF1 MLF1 MLF1 Leukemia, acute myeloid Autosomal dominant 601402 601626 3 NA @@ -1340,8 +1358,8 @@ GFM1|EFG1|GFM|COXPD1 GFM1|NA|GFM1|NA GFM1 Combined oxidative phosphorylation def IFT80|KIAA1374|WDR56|SRTD2|ATD2 IFT80|IFT80|IFT80|NA|NA IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly Autosomal recessive 611177 611263 3 NA MDS1 MECOM MECOM Myelodysplasia syndrome-1 None 600049 NA 3 cen--EVI1--MDS1--EAP--tel MYP8 MYP8 MYP8 Myopia 8 Multifactorial 609257 609257 3 NA -B3GALT3|GLCT3|GLOB B3GALNT1|NA|B3GALNT1 B3GALNT1 Blood group, P1PK system, P(k) phenotype None 603094 111400 3 NA B3GALT3|GLCT3|GLOB B3GALNT1|NA|B3GALNT1 B3GALNT1 Blood group, globoside system None 603094 615021 3 NA +B3GALT3|GLCT3|GLOB B3GALNT1|NA|B3GALNT1 B3GALNT1 Blood group, P1PK system, P(k) phenotype None 603094 111400 3 NA SI PMEL,SI SI,PMEL Sucrase-isomaltase deficiency, congenital Autosomal recessive 609845 222900 3 NA BCHE|CHE1 BCHE|AATF,BCHE AATF,BCHE Apnea, postanesthetic None 177400 NA 3 distal to CP, TF PDCD10|TFAR15|CCM3 PDCD10|PDCD10|PDCD10 PDCD10 Cerebral cavernous malformations 3 None 609118 603285 3 NA @@ -1351,13 +1369,17 @@ TERC|TRC3|TR|DKCA1|PFBMFT2 TERC|TERC|F2R,TMEFF2,TXNRD2,TERC|NA|NA F2R,TMEFF2,TXN TERC|TRC3|TR|DKCA1|PFBMFT2 TERC|TERC|F2R,TMEFF2,TXNRD2,TERC|NA|NA F2R,TMEFF2,TXNRD2,TERC Aplastic anemia Autosomal dominant 602322 614743 3 NA TERC|TRC3|TR|DKCA1|PFBMFT2 TERC|TERC|F2R,TMEFF2,TXNRD2,TERC|NA|NA F2R,TMEFF2,TXNRD2,TERC Dyskeratosis congenita, autosomal dominant 1 Autosomal dominant 602322 127550 3 NA SLC7A14|KIAA1613|RP68 SLC7A14|SLC7A14|NA SLC7A14 Retinitis pigmentosa 68 Autosomal recessive 615720 615725 3 NA -SLC2A2|GLUT2 SLC2A2|SLC2A2 SLC2A2 Diabetes mellitus, noninsulin-dependent Autosomal dominant 138160 125853 3 NA SLC2A2|GLUT2 SLC2A2|SLC2A2 SLC2A2 Fanconi-Bickel syndrome Autosomal recessive 138160 227810 3 NA -TNIK|KIAA0551|MRT54 TNIK|TNIK|NA TNIK Mental retardation, autosomal recessive 54 None 610005 617028 3 NA +SLC2A2|GLUT2 SLC2A2|SLC2A2 SLC2A2 Diabetes mellitus, noninsulin-dependent Autosomal dominant 138160 125853 3 NA +TNIK|KIAA0551|MRT54 TNIK|TNIK|NA TNIK Mental retardation, autosomal recessive 54 Autosomal recessive 610005 617028 3 NA GHSR|GHDP GHSR|NA GHSR Growth hormone deficiency, isolated partial Autosomal dominant; Autosomal recessive 601898 615925 3 NA SPATA16|SPGF6 SPATA16|NA SPATA16 ?Spermatogenic failure 6 Autosomal recessive 609856 102530 3 mutation identified in 1 SPGF6 family -TBL1XR1|TBLR1|IRA1|C21|MRD41 TBL1XR1|TBL1XR1|TBL1XR1|TBL1XR1|NA TBL1XR1 Pierpont syndrome Autosomal dominant 608628 602342 3 NA TBL1XR1|TBLR1|IRA1|C21|MRD41 TBL1XR1|TBL1XR1|TBL1XR1|TBL1XR1|NA TBL1XR1 Mental retardation, autosomal dominant 41 Autosomal dominant 608628 616944 3 NA +TBL1XR1|TBLR1|IRA1|C21|MRD41 TBL1XR1|TBL1XR1|TBL1XR1|TBL1XR1|NA TBL1XR1 Pierpont syndrome Autosomal dominant 608628 602342 3 NA +PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Breast cancer, somatic None 171834 114480 3 NA +PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Hepatocellular carcinoma, somatic None 171834 114550 3 NA +PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Ovarian cancer, somatic None 171834 167000 3 NA +PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Gastric cancer, somatic None 171834 613659 3 NA PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Nonsmall cell lung cancer, somatic None 171834 211980 3 NA PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Cowden syndrome 5 None 171834 615108 3 NA PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Nevus, epidermal, somatic None 171834 162900 3 NA @@ -1365,10 +1387,6 @@ PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Colorectal PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic None 171834 602501 3 NA PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA CLOVE syndrome, somatic None 171834 612918 3 NA PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Keratosis, seborrheic, somatic None 171834 182000 3 NA -PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Breast cancer, somatic None 171834 114480 3 NA -PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Hepatocellular carcinoma, somatic None 171834 114550 3 NA -PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Ovarian cancer, somatic None 171834 167000 3 NA -PIK3CA|CLOVE|MCAP|MCM|MCMTC|CWS5 PIK3CA|NA|BRD4|NA|NA|NA BRD4,PIK3CA Gastric cancer, somatic None 171834 613659 3 NA GNB4|CMTD1F GNB4|NA GNB4 Charcot-Marie-Tooth disease, dominant intermediate F Autosomal dominant 610863 615185 3 NA CCDC39 CCDC39 CCDC39 Ciliary dyskinesia, primary, 14 None 613798 613807 3 NA DNAJC19|TIM14 DNAJC19|NA DNAJC19 3-methylglutaconic aciduria, type V Autosomal recessive 608977 610198 3 NA @@ -1381,10 +1399,10 @@ EIF2B5|LVWM|CACH|CLE EIF2B5|NA|NA|C14orf166 C14orf166,EIF2B5 Leukoencephalopathy DVL3|DRS3 DVL3|NA DVL3 Robinow syndrome, autosomal dominant 3 Autosomal dominant 601368 616894 3 NA ALG3|NOT56L|CDGS4|CDG1D ALG3|ALG3|ALG3|NA ALG3 Congenital disorder of glycosylation, type Id Autosomal recessive 608750 601110 3 NA EIF4G1|EIF4G|PARK18 EIF4G1|EIF4G1|EIF4G1 EIF4G1 Parkinson disease 18 Autosomal dominant 600495 614251 3 amplified in squamous cell lung cancer +CLCN2|EGMA|ECA2|EGI11|EJM8|LKPAT CLCN2|NA|NA|NA|NA|NA CLCN2 Epilepsy, juvenile myoclonic, susceptibility to, 8 Autosomal dominant 600570 607628 3 NA CLCN2|EGMA|ECA2|EGI11|EJM8|LKPAT CLCN2|NA|NA|NA|NA|NA CLCN2 Epilepsy, juvenile absence, susceptibility to, 2 Autosomal dominant 600570 607628 3 NA CLCN2|EGMA|ECA2|EGI11|EJM8|LKPAT CLCN2|NA|NA|NA|NA|NA CLCN2 Epilepsy, idiopathic generalized, susceptibility to, 11 Autosomal dominant 600570 607628 3 NA CLCN2|EGMA|ECA2|EGI11|EJM8|LKPAT CLCN2|NA|NA|NA|NA|NA CLCN2 Leukoencephalopathy with ataxia Autosomal recessive 600570 615651 3 NA -CLCN2|EGMA|ECA2|EGI11|EJM8|LKPAT CLCN2|NA|NA|NA|NA|NA CLCN2 Epilepsy, juvenile myoclonic, susceptibility to, 8 Autosomal dominant 600570 607628 3 NA THPO|MGDF|MPLLG|TPO|THCYT1 THPO|THPO|THPO|THPO,TPO|NA TPO,THPO Thrombocythemia 1 Autosomal dominant 600044 187950 3 NA EHHADH|PBFE|LBFP|FRTS3 EHHADH|NA|NA|NA EHHADH ?Fanconi renotubular syndrome 3 Autosomal dominant 607037 615605 3 mutation identified in 1 family LIPH|LAH2|ARWH2|HYPT7 LIPH|NA|NA|NA LIPH Woolly hair, autosomal recessive 2 with or without hypotrichosis Autosomal recessive 607365 604379 3 NA @@ -1400,22 +1418,22 @@ MASP1|CRARF|3MC1 MASP1|MASP1|NA MASP1 3MC syndrome 1 Autosomal recessive 600521 BCL6 BCL6 BCL6 Lymphoma, B-cell None 109565 109565 3 NA LPP LPP LPP Lipoma None 600700 NA 3 fused with HMGIC in lipoma; fused with MLL in leukemia LPP LPP LPP Leukemia, acute myeloid Autosomal dominant 600700 601626 3 fused with HMGIC in lipoma; fused with MLL in leukemia +TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Orofacial cleft 8 Autosomal dominant 603273 129400 3 NA +TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Limb-mammary syndrome Autosomal dominant 603273 603543 3 NA TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Hay-Wells syndrome Autosomal dominant 603273 106260 3 NA TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Autosomal dominant 603273 604292 3 NA TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Split-hand/foot malformation 4 Autosomal dominant 603273 605289 3 NA TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 ADULT syndrome Autosomal dominant 603273 103285 3 NA TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Rapp-Hodgkin syndrome Autosomal dominant 603273 129400 3 NA -TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Orofacial cleft 8 Autosomal dominant 603273 129400 3 NA -TP63|TP73L|KET|EEC3|SHFM4|LMS|RHS|OFC8 TP63|TP63|TP63|TP63|TP63|NA|NA|TP63 TP63 Limb-mammary syndrome Autosomal dominant 603273 603543 3 NA P3H2|LEPREL1|MCVD P3H2|P3H2|NA P3H2 Myopia, high, with cataract and vitreoretinal degeneration Autosomal recessive 610341 614292 3 NA CLDN1|SEMP1|ILVASC CLDN1|CLDN1|CLDN1 CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Autosomal recessive 603718 607626 3 NA CLDN16|PCLN1|HOMG3 CLDN16|CLDN16|CLDN16 CLDN16 Hypomagnesemia 3, renal Autosomal recessive 603959 248250 3 NA CCDC50|C3orf6|DFNA44 CCDC50|CCDC50|CCDC50 CCDC50 ?Deafness, autosomal dominant 44 Autosomal dominant 611051 607453 3 mutation identified in 1 DFNA44 family +OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 Behr syndrome Autosomal recessive 605290 210000 3 mutation identified in 1 MTDPS14 family +OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) None 605290 616896 3 mutation identified in 1 MTDPS14 family OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 Glaucoma, normal tension, susceptibility to None 605290 606657 3 mutation identified in 1 MTDPS14 family OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 Optic atrophy plus syndrome Autosomal dominant 605290 125250 3 mutation identified in 1 MTDPS14 family OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 Optic atrophy 1 Autosomal dominant 605290 165500 3 mutation identified in 1 MTDPS14 family -OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 Behr syndrome Autosomal recessive 605290 210000 3 mutation identified in 1 MTDPS14 family -OPA1|NTG|NPG|BERHS|MTDPS14 MED12,OPA1|OPA1|OPA1|NA|NA MED12,OPA1 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) None 605290 616896 3 mutation identified in 1 MTDPS14 family TFRC|TFR|CD71|IMD46 TFRC|NA|TFRC|NA TFRC Immunodeficiency 46 Autosomal recessive 190010 616740 3 NA PCYT1A|CTPCT|PCYT1|SMDCRD PCYT1A|PCYT1A|PCYT1A|NA PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy Autosomal recessive 123695 608940 3 NA RNF168 RNF168 RNF168 RIDDLE syndrome Autosomal recessive 612688 611943 3 NA @@ -1429,12 +1447,17 @@ ZNF141|D4S90|PAPA6 ZNF141|ZNF141|NA ZNF141 ?Polydactyly, postaxial, type A6 Auto PIGG|GPI7|MRT53 PIGG|PIGG|NA PIGG Mental retardation, autosomal recessive 53 Autosomal recessive 616918 616917 4 NA PDE6B|PDEB|RP40|CSNBAD2 PDE6B|PDE6B|PDE6B|PDE6B PDE6B Retinitis pigmentosa-40 Autosomal recessive 180072 613801 4 NA PDE6B|PDEB|RP40|CSNBAD2 PDE6B|PDE6B|PDE6B|PDE6B PDE6B Night blindness, congenital stationary, autosomal dominant 2 Autosomal dominant 180072 163500 4 NA -SLC25A1|SAT1|CAON SLC25A1|SAT1,SLC38A1|NA SAT1,SLC25A1,SLC38A1 ?Nephrolithiasis, calcium oxalate Autosomal dominant 610130 167030 4 mutation identified in 1 CAON patient +SLC25A1|SAT1|CAON SLC25A1|SAT1,SLC38A1|NA SAT1,SLC25A1,SLC38A1 ?Nephrolithiasis, calcium oxalate Autosomal recessive 610130 167030 4 mutation identified in 1 CAON patient IDUA|IDA IDUA|NA IDUA Mucopolysaccharidosis Is Autosomal recessive 252800 607016 4 NA IDUA|IDA IDUA|NA IDUA Mucopolysaccharidosis Ih/s Autosomal recessive 252800 607015 4 NA IDUA|IDA IDUA|NA IDUA Mucopolysaccharidosis Ih Autosomal recessive 252800 607014 4 NA RNF212|ZHP3 RNF212|NA RNF212 Recombination rate QTL 1 None 612041 612042 4 NA UVSSA|KIAA1530|UVSS3 UVSSA|UVSSA|NA UVSSA UV-sensitive syndrome 3 Autosomal recessive 614632 614640 4 NA +FGFR3|ACH FGFR3|FGFR3 FGFR3 Spermatocytic seminoma, somatic None 134934 273300 4 NA +FGFR3|ACH FGFR3|FGFR3 FGFR3 Achondroplasia Autosomal dominant 134934 100800 4 NA +FGFR3|ACH FGFR3|FGFR3 FGFR3 Crouzon syndrome with acanthosis nigricans Autosomal dominant 134934 612247 4 NA +FGFR3|ACH FGFR3|FGFR3 FGFR3 SADDAN Autosomal dominant 134934 616482 4 NA +FGFR3|ACH FGFR3|FGFR3 FGFR3 Colorectal cancer, somatic None 134934 114500 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Nevus, epidermal, somatic None 134934 162900 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Cervical cancer, somatic None 134934 603956 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Muenke syndrome Autosomal dominant 134934 602849 4 NA @@ -1444,46 +1467,41 @@ FGFR3|ACH FGFR3|FGFR3 FGFR3 LADD syndrome Autosomal dominant 134934 149730 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Thanatophoric dysplasia, type I Autosomal dominant 134934 187600 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Bladder cancer, somatic None 134934 109800 4 NA FGFR3|ACH FGFR3|FGFR3 FGFR3 Hypochondroplasia Autosomal dominant 134934 146000 4 NA -FGFR3|ACH FGFR3|FGFR3 FGFR3 Spermatocytic seminoma, somatic None 134934 273300 4 NA -FGFR3|ACH FGFR3|FGFR3 FGFR3 Achondroplasia Autosomal dominant 134934 100800 4 NA -FGFR3|ACH FGFR3|FGFR3 FGFR3 Crouzon syndrome with acanthosis nigricans Autosomal dominant 134934 612247 4 NA -FGFR3|ACH FGFR3|FGFR3 FGFR3 SADDAN Autosomal dominant 134934 616482 4 NA -FGFR3|ACH FGFR3|FGFR3 FGFR3 Colorectal cancer, somatic None 134934 114500 4 NA -NAT8L|CML3|NACED NAT8L|NA|NA NAT8L ?N-acetylaspartate deficiency None 610647 614063 4 mutation identified in 1 family +NAT8L|CML3|NACED NAT8L|NA|NA NAT8L ?N-acetylaspartate deficiency Autosomal recessive 610647 614063 4 mutation identified in 1 family SH3BP2|CRPM SH3BP2|NA SH3BP2 Cherubism Autosomal dominant 602104 118400 4 NA ADD1 ADD1 ADD1 Hypertension, essential, salt-sensitive Multifactorial 102680 145500 4 NA HTT|HD|IT15 HTT,SLC6A4|HTT|HTT HTT,SLC6A4 Huntington disease Autosomal dominant 613004 143100 4 distal to D4S10 -DOK7|C4orf25|CMS10 DOK7|DOK7|NA DOK7 ?Fetal akinesia deformation sequence Autosomal recessive 610285 208150 4 mutation identified in 1 FADS family DOK7|C4orf25|CMS10 DOK7|DOK7|NA DOK7 Myasthenic syndrome, congenital, 10 Autosomal recessive 610285 254300 4 mutation identified in 1 FADS family +DOK7|C4orf25|CMS10 DOK7|DOK7|NA DOK7 ?Fetal akinesia deformation sequence Autosomal recessive 610285 208150 4 mutation identified in 1 FADS family LRPAP1|A2MRAP|MYP23 LRPAP1|LRPAP1|NA LRPAP1 Myopia 23, autosomal recessive Autosomal recessive 104225 615431 4 NA ADRA2C|ADRA2L2 ADRA2C|ADRA2C ADRA2C Congestive heart failure and beta-blocker response, modifier of None 104250 NA 4 linked to D4S10 -MSX1|HOX7|HYD1|OFC5|STHAG1|ECTD3 MSX1|MSX1|MSX1|MSX1|NA|NA MSX1 Ectodermal dysplasia 3, Witkop type Autosomal dominant 142983 189500 4 NA MSX1|HOX7|HYD1|OFC5|STHAG1|ECTD3 MSX1|MSX1|MSX1|MSX1|NA|NA MSX1 Tooth agenesis, selective, 1, with or without orofacial cleft Autosomal dominant 142983 106600 4 NA MSX1|HOX7|HYD1|OFC5|STHAG1|ECTD3 MSX1|MSX1|MSX1|MSX1|NA|NA MSX1 Orofacial cleft 5 None 142983 608874 4 NA -LBN|EVC2|WAD EVC2|EVC2|NA EVC2 Ellis-van Creveld syndrome Autosomal recessive 607261 225500 4 NA +MSX1|HOX7|HYD1|OFC5|STHAG1|ECTD3 MSX1|MSX1|MSX1|MSX1|NA|NA MSX1 Ectodermal dysplasia 3, Witkop type Autosomal dominant 142983 189500 4 NA LBN|EVC2|WAD EVC2|EVC2|NA EVC2 Weyers acrofacial dysostosis Autosomal dominant 607261 193530 4 NA -EVC EVC EVC Ellis-van Creveld syndrome Autosomal recessive 604831 225500 4 NA +LBN|EVC2|WAD EVC2|EVC2|NA EVC2 Ellis-van Creveld syndrome Autosomal recessive 607261 225500 4 NA EVC EVC EVC Weyers acrodental dysostosis Autosomal dominant 604831 193530 4 NA +EVC EVC EVC Ellis-van Creveld syndrome Autosomal recessive 604831 225500 4 NA +WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Wolfram-like syndrome, autosomal dominant Autosomal dominant 606201 614296 4 mutation identified in 1 CTRCT41 family +WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Wolfram syndrome Autosomal recessive 606201 222300 4 mutation identified in 1 CTRCT41 family WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Deafness, autosomal dominant 6/14/38 Autosomal dominant 606201 600965 4 mutation identified in 1 CTRCT41 family WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 ?Cataract 41 Autosomal dominant 606201 116400 4 mutation identified in 1 CTRCT41 family WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Diabetes mellitus, noninsulin-dependent, association with Autosomal dominant 606201 125853 4 mutation identified in 1 CTRCT41 family -WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Wolfram-like syndrome, autosomal dominant Autosomal dominant 606201 614296 4 mutation identified in 1 CTRCT41 family -WFS1|WFRS|WFS|DFNA6|DFNA14|DFNA38|WFSL|CTRCT41 WFS1|NA|WFS1|WFS1|WFS1|WFS1|NA|NA WFS1 Wolfram syndrome Autosomal recessive 606201 222300 4 mutation identified in 1 CTRCT41 family HMX1|H6 HMX1|HMX1 HMX1 Oculoauricular syndrome Autosomal recessive 142992 612109 4 NA SLC2A9|GLUT9|UAQTL2 SLC2A9|SLC2A6|NA SLC2A6,SLC2A9 Uric acid concentration, serum, QTL 2 Autosomal dominant; Autosomal recessive 606142 612076 4 NA SLC2A9|GLUT9|UAQTL2 SLC2A9|SLC2A6|NA SLC2A6,SLC2A9 Hypouricemia, renal, 2 Autosomal dominant; Autosomal recessive 606142 612076 4 NA +DRD5|DRD1B|DRD1L2 DRD5|DRD5|DRD5 DRD5 Blepharospasm, primary benign Isolated cases 126453 606798 4 pseudogenes on 2p11 and 1q21 DRD5|DRD1B|DRD1L2 DRD5|DRD5|DRD5 DRD5 Attention deficit-hyperactivity disorder, susceptibility to Autosomal dominant 126453 143465 4 pseudogenes on 2p11 and 1q21 DRD5|DRD1B|DRD1L2 DRD5|DRD5|DRD5 DRD5 Dystonia, primary cervical None 126453 NA 4 pseudogenes on 2p11 and 1q21 -DRD5|DRD1B|DRD1L2 DRD5|DRD5|DRD5 DRD5 Blepharospasm, primary benign Isolated cases 126453 606798 4 pseudogenes on 2p11 and 1q21 RAB28|CORD18 RAB28|NA RAB28 Cone-rod dystrophy 18 Autosomal recessive 612994 615374 4 NA NKX3-2|BAPX1|SMMD NKX3-2|NKX3-2|NA NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia Autosomal recessive 602183 613330 4 NA +CC2D2A|KIAA1345|MKS6 CC2D2A|CC2D2A|CC2D2A CC2D2A Meckel syndrome 6 Autosomal recessive 612013 612284 4 NA CC2D2A|KIAA1345|MKS6 CC2D2A|CC2D2A|CC2D2A CC2D2A Joubert syndrome 9 Autosomal recessive 612013 612285 4 NA CC2D2A|KIAA1345|MKS6 CC2D2A|CC2D2A|CC2D2A CC2D2A COACH syndrome Autosomal recessive 612013 216360 4 NA -CC2D2A|KIAA1345|MKS6 CC2D2A|CC2D2A|CC2D2A CC2D2A Meckel syndrome 6 Autosomal recessive 612013 612284 4 NA -PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Cone-rod dystrophy 12 None 604365 612657 4 NA -PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Stargardt disease 4 None 604365 603786 4 NA PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Retinitis pigmentosa 41 Autosomal recessive 604365 612095 4 NA PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Macular dystrophy, retinal, 2 Autosomal dominant 604365 608051 4 NA +PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Cone-rod dystrophy 12 None 604365 612657 4 NA +PROM1|PROML1|AC133|RP41|CORD12|CD133|MCDR2|STGD4 PROM1|PROM1|PROM1|PROM1|PROM1|PROM1|AKR1C2,PROM1|PROM1 AKR1C2,PROM1 Stargardt disease 4 None 604365 603786 4 NA TAPT1|CMVFR|OCLSBG TAPT1|NA|NA TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type Autosomal recessive 612758 616897 4 NA QDPR|DHPR QDPR|QDPR QDPR Hyperphenylalaninemia, BH4-deficient, C Autosomal recessive 612676 261630 4 NA SOD3 SOD3 SOD3 Superoxide dismutase, elevated extracellular None 185490 NA 4 NA @@ -1491,20 +1509,20 @@ SEPSECS|SLA|LP|PCH2D SEPSECS|SEPSECS,SLA|LPA|NA SEPSECS,LPA,SLA Pontocerebellar SLC34A2 SLC34A2 SLC34A2 Pulmonary alveolar microlithiasis Autosomal recessive 604217 265100 4 NA RBPJ|RBPSUH|IGKJRB1|AOS3 RBPJ|RBPJ|RBPJ|NA RBPJ Adams-Oliver syndrome 3 Autosomal dominant 147183 614814 4 pseudogenes at 9q13, 9p13, and 3q25 NPC1|NPCA1 NPC1|NA NPC1 Nasopharyngeal carcinoma 1 None 607107 607107 4 ?associated with acyl-CoA thioesterase 7-like -TLR1|TIL.LPRS5 TLR1|NA TLR1 Leprosy, susceptibility to, 5 None 601194 613223 4 NA TLR1|TIL.LPRS5 TLR1|NA TLR1 Leprosy, protection against None 601194 613223 4 NA +TLR1|TIL.LPRS5 TLR1|NA TLR1 Leprosy, susceptibility to, 5 None 601194 613223 4 NA WDR19|SRTD5|ATD5|NPHP13|CED4 WDR19|NA|NA|WDR19|APAF1 WDR19,APAF1 Senior-Loken syndrome 8 Autosomal recessive 608151 616307 4 mutation identified in 1 CED4 family and 1 SRTD5 family WDR19|SRTD5|ATD5|NPHP13|CED4 WDR19|NA|NA|WDR19|APAF1 WDR19,APAF1 Nephronophthisis 13 Autosomal recessive 608151 614377 4 mutation identified in 1 CED4 family and 1 SRTD5 family WDR19|SRTD5|ATD5|NPHP13|CED4 WDR19|NA|NA|WDR19|APAF1 WDR19,APAF1 ?Short-rib thoracic dysplasia 5 with or without polydactyly Autosomal recessive 608151 614376 4 mutation identified in 1 CED4 family and 1 SRTD5 family WDR19|SRTD5|ATD5|NPHP13|CED4 WDR19|NA|NA|WDR19|APAF1 WDR19,APAF1 ?Cranioectodermal dysplasia 4 Autosomal recessive 608151 614378 4 mutation identified in 1 CED4 family and 1 SRTD5 family LIAS|PDHLD|HGCLAS LIAS|NA|NA LIAS Hyperglycinemia, lactic acidosis, and seizures Autosomal recessive 607031 614462 4 NA -APBB2|FE65L1 APBB2|APBB2 APBB2 Alzheimer disease, late-onset Autosomal dominant 602710 104300 4 NA UCHL1|PARK5|NDGOA UCHL1|UCHL1|NA UCHL1 ?Parkinson disease 5, susceptibility to None 191342 613643 4 mutation identified in 1 NDGOA family and 1 PARK5 family UCHL1|PARK5|NDGOA UCHL1|UCHL1|NA UCHL1 ?Neurodegeneration with optic atrophy, childhood onset Autosomal recessive 191342 615491 4 mutation identified in 1 NDGOA family and 1 PARK5 family -PMX2B|NBPHOX|PHOX2B|NBLST2 PHOX2B|NA|PHOX2B|NA PHOX2B Neuroblastoma, susceptibility to, 2 None 603851 613013 4 NA PMX2B|NBPHOX|PHOX2B|NBLST2 PHOX2B|NA|PHOX2B|NA PHOX2B Neuroblastoma with Hirschsprung disease None 603851 613013 4 NA PMX2B|NBPHOX|PHOX2B|NBLST2 PHOX2B|NA|PHOX2B|NA PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease Autosomal dominant 603851 209880 4 NA +PMX2B|NBPHOX|PHOX2B|NBLST2 PHOX2B|NA|PHOX2B|NA PHOX2B Neuroblastoma, susceptibility to, 2 None 603851 613013 4 NA GRXCR1 GRXCR1 GRXCR1 Deafness, autosomal recessive 25 Autosomal recessive 613283 613285 4 NA +GUF1|EF4|EIEE40 GUF1|NA|NA GUF1 ?Epileptic encephalopathy, early infantile, 40 Autosomal recessive 617064 617065 4 mutation identified in 1 EIEE40 family GABRA2 GABRA2 GABRA2 Alcohol dependence, susceptibility to Multifactorial 137140 103780 4 NA CORIN|CRN|TMPRSS10|ATC2|PEE5 CORIN|CORIN,CRNKL1|CORIN|CORIN|NA CORIN,CRNKL1 Preeclampsia/eclampsia 5 None 605236 614595 4 NA CNGA1|CNCG1|RP49 CNGA1|CNGA1|CNGA1 CNGA1 Retinitis pigmentosa 49 None 123825 613756 4 NA @@ -1515,17 +1533,17 @@ MYP9 MYP9 MYP9 Myopia 9 Multifactorial 609258 609258 4 NA TAPVR1 TAPVR1 TAPVR1 Total anomalous pulmonary venous return Autosomal dominant 106700 106700 4 between D4S1630 and D4S3019; ?mutation in KDR SGCB|LGMD2E SGCB|SGCB SGCB Muscular dystrophy, limb-girdle, type 2E Autosomal recessive 600900 604286 4 NA CHIC2|BTL CHIC2|CHIC2 CHIC2 Leukemia, acute myeloid Autosomal dominant 604332 601626 4 NA -PDGFRA PDGFRA PDGFRA Gastrointestinal stromal tumor, somatic None 173490 606764 4 same 700bp segment as KIT; fused to BCR or FIP1L1 PDGFRA PDGFRA PDGFRA Hypereosinophilic syndrome, idiopathic, resistant to imatinib Somatic mutation; Isolated cases 173490 607685 4 same 700bp segment as KIT; fused to BCR or FIP1L1 +PDGFRA PDGFRA PDGFRA Gastrointestinal stromal tumor, somatic None 173490 606764 4 same 700bp segment as KIT; fused to BCR or FIP1L1 +KIT|PBT KIT|KIT KIT Leukemia, acute myeloid Autosomal dominant 164920 601626 4 same 700bp segment as PDGFRA +KIT|PBT KIT|KIT KIT Germ cell tumors Somatic mutation 164920 273300 4 same 700bp segment as PDGFRA KIT|PBT KIT|KIT KIT Gastrointestinal stromal tumor, familial Autosomal dominant; Isolated cases 164920 606764 4 same 700bp segment as PDGFRA KIT|PBT KIT|KIT KIT Piebaldism Autosomal dominant 164920 172800 4 same 700bp segment as PDGFRA KIT|PBT KIT|KIT KIT Mast cell disease Autosomal dominant 164920 154800 4 same 700bp segment as PDGFRA -KIT|PBT KIT|KIT KIT Leukemia, acute myeloid Autosomal dominant 164920 601626 4 same 700bp segment as PDGFRA -KIT|PBT KIT|KIT KIT Germ cell tumors Somatic mutation 164920 273300 4 same 700bp segment as PDGFRA KDR KDR KDR Hemangioma, capillary infantile, susceptibility to Autosomal dominant 191306 602089 4 ?mutant in TAPVR1 KDR KDR KDR Hemangioma, capillary infantile, somatic None 191306 602089 4 ?mutant in TAPVR1 -SRD5A3|SRD5A2L|CDG1Q|KRIZI SRD5A3|SRD5A3|NA|NA SRD5A3 Kahrizi syndrome Autosomal recessive 611715 612713 4 NA SRD5A3|SRD5A2L|CDG1Q|KRIZI SRD5A3|SRD5A3|NA|NA SRD5A3 Congenital disorder of glycosylation, type Iq Autosomal recessive 611715 612379 4 NA +SRD5A3|SRD5A2L|CDG1Q|KRIZI SRD5A3|SRD5A3|NA|NA SRD5A3 Kahrizi syndrome Autosomal recessive 611715 612713 4 NA TMEM165|FT27|CDG2K TMEM165|NA|NA TMEM165 Congenital disorder of glycosylation, type IIk Autosomal recessive 614726 614727 4 NA CEP135|KIAA0635|MCPH8 CEP135|CEP135|NA CEP135 ?Microcephaly 8, primary, autosomal recessive Autosomal recessive 611423 614673 4 mutation identified in 1 MCPH8 family SRP72|BMFS1 SRP72|NA SRP72 Bone marrow failure syndrome 1 Autosomal dominant 602122 614675 4 NA @@ -1552,24 +1570,24 @@ HNRNPDL|HNRPDL|JKTBP|LGMD1G HNRNPDL|HNRNPDL|HNRNPDL|LGMD1G LGMD1G,HNRNPDL Muscul COQ2|COQ10D1|MSA1 COQ2|NA|NA COQ2 Multiple system atrophy, susceptibility to Autosomal dominant; Autosomal recessive 609825 146500 4 NA COQ2|COQ10D1|MSA1 COQ2|NA|NA COQ2 Coenzyme Q10 deficiency, primary, 1 Autosomal recessive 609825 607426 4 NA MYP11 MYP11 MYP11 Myopia 11 None 609994 609994 4 max lod at D4S1564 -DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Dentinogenesis imperfecta, Shields type III Autosomal dominant 125485 125500 4 NA -DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Dentinogenesis imperfecta, Shields type II Autosomal dominant 125485 125490 4 NA DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Dentin dysplasia, type II Autosomal dominant 125485 125420 4 NA DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Deafness, autosomal dominant 39, with dentinogenesis Autosomal dominant 125485 605594 4 NA +DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Dentinogenesis imperfecta, Shields type III Autosomal dominant 125485 125500 4 NA +DSPP|DPP|DGI1|DFNA39|DTDP2 DSPP|NA|DSPP|DSPP|NA DSPP Dentinogenesis imperfecta, Shields type II Autosomal dominant 125485 125490 4 NA DMP1|ARHR|ARHP DMP1,DMTF1|NA|NA DMP1,DMTF1 Hypophosphatemic rickets, AR Autosomal recessive 600980 241520 4 NA PKD2 PKD2,PRKD2 PKD2,PRKD2 Polycystic kidney disease 2 None 173910 613095 4 NA ABCG2|BCRP|ABCP|UAQTL1|GOUT1 ABCG2|ABCG2|ABCG2|NA|NA ABCG2 Uric acid concentration, serum, QTL1 ?Autosomal dominant 603756 138900 4 NA ABCG2|BCRP|ABCP|UAQTL1|GOUT1 ABCG2|ABCG2|ABCG2|NA|NA ABCG2 Junior blood group system None 603756 614490 4 NA PPM1K|PP2CM|PTMP|MSUDMV PPM1K|NA|NA|NA PPM1K ?Maple syrup urine disease, mild variant None 611065 615135 4 mutation identified in 1 MSUDMV family PIGY|HPMRS6 PIGY|NA PIGY Hyperphosphatasia with mental retardation syndrome 6 Autosomal recessive 610662 616809 4 NA -SNCA|NACP|PARK1|PARK4 SNCA|SNCA|SNCA|SNCA SNCA Dementia, Lewy body Autosomal dominant 163890 127750 4 NA SNCA|NACP|PARK1|PARK4 SNCA|SNCA|SNCA|SNCA SNCA Parkinson disease 4 Autosomal dominant 163890 605543 4 NA SNCA|NACP|PARK1|PARK4 SNCA|SNCA|SNCA|SNCA SNCA Parkinson disease 1 Autosomal dominant 163890 168601 4 NA +SNCA|NACP|PARK1|PARK4 SNCA|SNCA|SNCA|SNCA SNCA Dementia, Lewy body Autosomal dominant 163890 127750 4 NA GRID2|SCAR18 GRID2|NA GRID2 Spinocerebellar ataxia, autosomal recessive 18 Autosomal recessive 602368 616204 4 NA SMARCAD1|KIAA1122|ETL1|HEL1|ADERM SMARCAD1|SMARCAD1|LGI1,SMARCAD1|NA|NA SMARCAD1,LGI1 Adermatoglyphia Autosomal dominant 612761 136000 4 NA -BMPR1B|ALK6|AMDD|BDA2|BDA1D BMPR1B|BMPR1B|FAAH2|NA|NA BMPR1B,FAAH2 Acromesomelic dysplasia, Demirhan type Autosomal recessive 603248 609441 4 NA BMPR1B|ALK6|AMDD|BDA2|BDA1D BMPR1B|BMPR1B|FAAH2|NA|NA BMPR1B,FAAH2 Brachydactyly, type A2 Autosomal dominant 603248 112600 4 NA BMPR1B|ALK6|AMDD|BDA2|BDA1D BMPR1B|BMPR1B|FAAH2|NA|NA BMPR1B,FAAH2 Brachydactyly, type A1, D Autosomal dominant 603248 616849 4 NA +BMPR1B|ALK6|AMDD|BDA2|BDA1D BMPR1B|BMPR1B|FAAH2|NA|NA BMPR1B,FAAH2 Acromesomelic dysplasia, Demirhan type Autosomal recessive 603248 609441 4 NA TYS|HRZ TYS|NA TYS Huriez syndrome Autosomal dominant 181600 181600 4 NA RAP1GDS1 RAP1GDS1 RAP1GDS1 Lymphocytic leukemia, acute T-cell None 179502 NA 4 fusion partner with NUP98 in ALL EIF4E|EIF4EL1|AUTS19 EIF4E|EIF4E|NA EIF4E Autism, susceptibility to, 19 None 133440 615091 4 pseudogene on 20 @@ -1578,8 +1596,8 @@ ADH1B|ADH2 ADH1B|ADH1B ADH1B Aerodigestive tract cancer, squamous cell, alcohol- ADH1C|ADH3 ADH1C|ADH1C ADH1C Parkinson disease, susceptibility to Isolated cases; Multifactorial 103730 168600 4 NA ADH1C|ADH3 ADH1C|ADH1C ADH1C Alcohol dependence, protection against Multifactorial 103730 103780 4 NA TRMT10A|RG9MTD2|MSSGM1 TRMT10A|TRMT10A|NA TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1 Autosomal recessive 616013 616033 4 NA -MTP MTTP MTTP Metabolic syndrome, protection against None 157147 605552 4 NA MTP MTTP MTTP Abetalipoproteinemia Autosomal recessive 157147 200100 4 NA +MTP MTTP MTTP Metabolic syndrome, protection against Autosomal dominant 157147 605552 4 NA OCA5 OCA5 OCA5 Albinism, oculocutaneous, type V Autosomal recessive 615312 615312 4 max lod at D4S961 SLC39A8|BIGM103|CDG2N SLC39A8|SLC39A8|NA SLC39A8 Congenital disorder of glycosylation, type IIn Autosomal recessive 608732 616721 4 NA NFKB1|CVID12 NFKB1|NA NFKB1 Immunodeficiency, common variable, 12 Autosomal dominant 164011 616576 4 NA @@ -1595,15 +1613,15 @@ HADHSC|SCHAD|HHF4 HADH|HADH|NA HADH Hyperinsulinemic hypoglycemia, familial, 4 A HADHSC|SCHAD|HHF4 HADH|HADH|NA HADH 3-hydroxyacyl-CoA dehydrogenase deficiency Autosomal recessive 601609 231530 4 NA LEF1 LEF1 LEF1 Sebaceous tumors, somatic None 153245 NA 4 NA COL25A1|CLAC|CFEOM5 COL25A1|NA|NA COL25A1 Fibrosis of extraocular muscles, congenital, 5 Autosomal recessive 610004 616219 4 NA +CFI|FI|AHUS3|ARMD13 CFI|CFI|NA|NA CFI Macular degeneration, age-related, 13, susceptibility to Autosomal dominant 217030 615439 4 40kb distal to EGF CFI|FI|AHUS3|ARMD13 CFI|CFI|NA|NA CFI Hemolytic uremic syndrome, atypical, susceptibility to, 3 Autosomal dominant 217030 612923 4 40kb distal to EGF CFI|FI|AHUS3|ARMD13 CFI|CFI|NA|NA CFI Complement factor I deficiency Autosomal recessive 217030 610984 4 40kb distal to EGF -CFI|FI|AHUS3|ARMD13 CFI|CFI|NA|NA CFI Macular degeneration, age-related, 13, susceptibility to Autosomal dominant 217030 615439 4 40kb distal to EGF LRIT3|FIGLER4|CSNB1F LRIT3|LRIT3|LRIT3 LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive Autosomal recessive 615004 615058 4 NA EGF|URG|HOMG4 EGF|NA|NA EGF Hypomagnesemia 4, renal None 131530 611718 4 linked to ADH3; cen-ADH3-EGF-IL2-qter -PITX2|IDG2|RIEG1|RGS|IGDS2 PITX2|NA|PITX2|PITX2|NA PITX2 Ring dermoid of cornea Autosomal dominant 601542 180550 4 NA PITX2|IDG2|RIEG1|RGS|IGDS2 PITX2|NA|PITX2|PITX2|NA PITX2 Peters anomaly None 601542 604229 4 NA PITX2|IDG2|RIEG1|RGS|IGDS2 PITX2|NA|PITX2|PITX2|NA PITX2 Iridogoniodysgenesis, type 2 Autosomal dominant 601542 137600 4 NA PITX2|IDG2|RIEG1|RGS|IGDS2 PITX2|NA|PITX2|PITX2|NA PITX2 Axenfeld-Rieger syndrome, type 1 Autosomal dominant 601542 180500 4 NA +PITX2|IDG2|RIEG1|RGS|IGDS2 PITX2|NA|PITX2|PITX2|NA PITX2 Ring dermoid of cornea Autosomal dominant 601542 180550 4 NA LARP7|PIP7S|ALAZS LARP7|LARP7|NA LARP7 Alazami syndrome Autosomal recessive 612026 615071 4 NA ANK2|LQT4 ANK2|ANK2 ANK2 Long QT syndrome 4 Autosomal dominant 106410 600919 4 NA ANK2|LQT4 ANK2|ANK2 ANK2 Cardiac arrhythmia, ankyrin-B-related Autosomal dominant 106410 600919 4 NA @@ -1619,17 +1637,17 @@ IL21|CVID11 IL21|NA IL21 ?Immunodeficiency, common variable, 11 Autosomal recess BBS12|FLJ35630|C4orf24 BBS12|BBS12|BBS12 BBS12 Bardet-Biedl syndrome 12 Autosomal recessive 610683 615989 4 1Mb centromeric to BBS SF HGF,KITLG HGF,KITLG Blood group, Stoltzfus system None 111800 111800 4 ~25cM from MNSs SPATA5|SPAF|EHLMRS SPATA5|SPATA5|NA SPATA5 Epilepsy, hearing loss, and mental retardation syndrome Autosomal recessive 613940 616577 4 NA -FAT4|VMLDS2|HKLLS2 FAT4|NA|NA FAT4 Van Maldergem syndrome 2 Autosomal recessive 612411 615546 4 NA FAT4|VMLDS2|HKLLS2 FAT4|NA|NA FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2 Autosomal recessive 612411 616006 4 NA +FAT4|VMLDS2|HKLLS2 FAT4|NA|NA FAT4 Van Maldergem syndrome 2 Autosomal recessive 612411 615546 4 NA PLK4|STK18|SAK|MCCRP2 PLK4|PLK4|NA|NA PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2 Autosomal recessive 605031 616171 4 NA MFSD8|MGC33302|CLN7|CCMD MFSD8|MFSD8|MFSD8|NA MFSD8 Macular dystrophy with central cone involvement Autosomal recessive 611124 616170 4 NA MFSD8|MGC33302|CLN7|CCMD MFSD8|MFSD8|MFSD8|NA MFSD8 Ceroid lipofuscinosis, neuronal, 7 Autosomal recessive 611124 610951 4 NA -DFNB26 DFNB26 DFNB26 Deafness, autosomal recessive 26 None 605428 605428 4 NA +DFNB26 DFNB26 DFNB26 Deafness, autosomal recessive 26 Autosomal recessive 605428 605428 4 NA PSORS9 PSORS9 PSORS9 Psoraisis susceptibility 9 None 607857 607857 4 max lod at D4S1597 RAB33B|SMC2 RAB33B|SMC2 SMC2,RAB33B Smith-McCort dysplasia 2 Autosomal recessive 605950 615222 4 NA UCP1 UCP1 UCP1 Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 113730 601665 4 NA -GYPB|SS|MNS GYPB|GYPB,SHOX|GYPA,GYPB,GYPE SHOX,GYPA,GYPB,GYPE Blood group, Ss None 111740 NA 4 NA GYPB|SS|MNS GYPB|GYPB,SHOX|GYPA,GYPB,GYPE SHOX,GYPA,GYPB,GYPE Malaria, resistance to None 111740 611162 4 NA +GYPB|SS|MNS GYPB|GYPB,SHOX|GYPA,GYPB,GYPE SHOX,GYPA,GYPB,GYPE Blood group, Ss None 111740 NA 4 NA GYPA|MN|GPA GYPA|CA9,GYPA|GYPA GYPA,CA9 Malaria, resistance to None 111300 611162 4 male lod = 3.79 at theta 0.32 vs. GC GYPA|MN|GPA GYPA|CA9,GYPA|GYPA GYPA,CA9 Blood group, MN None 111300 NA 4 male lod = 3.79 at theta 0.32 vs. GC MMAA MMAA MMAA Methylmalonic aciduria, vitamin B12-responsive Autosomal recessive 607481 251100 4 NA @@ -1640,24 +1658,24 @@ NR3C2|MLR|MCR NR3C2|NR3C2|NA NR3C2 Hypertension, early-onset, autosomal dominant LRBA|LBA|CDC4L|CVID8 LRBA|LRBA|LRBA|NA LRBA Immunodeficiency, common variable, 8, with autoimmunity Autosomal recessive 606453 614700 4 NA MAB21L2|MCOPS14 MAB21L2|NA MAB21L2 Microphthalmia, syndromic 14 Autosomal dominant; Autosomal recessive 604357 615877 4 NA TRIM2|KIAA0517|CMT2R TRIM2|TRIM2|NA TRIM2 Charcot-Marie-Tooth disease, type 2R Autosomal recessive 614141 615490 4 NA -TLR2|TIL4 TLR2|TLR2 TLR2 Colorectal cancer, susceptibility to Autosomal dominant 603028 114500 4 NA TLR2|TIL4 TLR2|TLR2 TLR2 Mycobacterium tuberculosis, susceptibility to None 603028 607948 4 NA TLR2|TIL4 TLR2|TLR2 TLR2 Leprosy, susceptibility to Autosomal dominant 603028 246300 4 NA +TLR2|TIL4 TLR2|TLR2 TLR2 Colorectal cancer, susceptibility to Autosomal dominant 603028 114500 4 NA FGB FGB FGB Hypofibrinogenemia, congenital Autosomal recessive 134830 202400 4 4q31 by A; proximal to GYPB/GYPA FGB FGB FGB Dysfibrinogenemia, congenital None 134830 616004 4 4q31 by A; proximal to GYPB/GYPA FGB FGB FGB Afibrinogenemia, congenital Autosomal recessive 134830 202400 4 4q31 by A; proximal to GYPB/GYPA -FGA FGA FGA Amyloidosis, familial visceral Autosomal dominant 134820 105200 4 NA -FGA FGA FGA Afibrinogenemia, congenital Autosomal recessive 134820 202400 4 NA FGA FGA FGA Hypodysfibrinogenemia, congenital None 134820 616004 4 NA FGA FGA FGA Dysfibrinogenemia, congenital None 134820 616004 4 NA +FGA FGA FGA Amyloidosis, familial visceral Autosomal dominant 134820 105200 4 NA +FGA FGA FGA Afibrinogenemia, congenital Autosomal recessive 134820 202400 4 NA RP29 RP29 RP29 Retinitis pigmentosa 29 Autosomal recessive 612165 612165 4 maximum lod at D4S415 -FGG FGG FGG Hypofibrinogenemia, congenital Autosomal recessive 134850 202400 4 linked to MN -FGG FGG FGG Hypodysfibrinogenemia None 134850 616004 4 linked to MN FGG FGG FGG Dysfibrinogenemia, congenital None 134850 616004 4 linked to MN FGG FGG FGG Afibrinogenemia, congenital Autosomal recessive 134850 202400 4 linked to MN +FGG FGG FGG Hypofibrinogenemia, congenital Autosomal recessive 134850 202400 4 linked to MN +FGG FGG FGG Hypodysfibrinogenemia None 134850 616004 4 linked to MN +LRAT|LCA14 LRAT|LRAT LRAT Retinitis pigmentosa, juvenile Autosomal recessive 604863 613341 4 NA LRAT|LCA14 LRAT|LRAT LRAT Retinal dystrophy, early-onset severe Autosomal recessive 604863 613341 4 NA LRAT|LCA14 LRAT|LRAT LRAT Leber congenital amaurosis 14 Autosomal recessive 604863 613341 4 NA -LRAT|LCA14 LRAT|LRAT LRAT Retinitis pigmentosa, juvenile Autosomal recessive 604863 613341 4 NA GUCY1A3|GUC1A3|GUCSA3|MYMY6 GUCY1A3|GUCY1A3|NA|NA GUCY1A3 Moyamoya 6 with achalasia Autosomal recessive 139396 615750 4 NA GLRB|HKPX2 GLRB|NA GLRB Hyperekplexia 2, autosomal recessive None 138492 614619 4 NA ETFDH|MADD ETFDH|ETFA,MADD ETFA,MADD,ETFDH Glutaric acidemia IIC Autosomal recessive 231675 231680 4 NA @@ -1666,13 +1684,13 @@ TLL1|TLL|ASD6 TLL1|NR2E1|NA TLL1,NR2E1 Atrial septal defect 6 Autosomal dominant PALLD|KIAA0992|PNCA1 PALLD|PALLD|NA PALLD Pancreatic cancer, susceptibility to, 1 None 608092 606856 4 NA HCA1 HCAR1 HCAR1 Hypercalciuria, absorptive None 607258 607258 4 NA NEK1|SRTD6|SRPS2A NEK1|NA|NA NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly Digenic recessive; Autosomal recessive 604588 263520 4 1 patient showed heterozygous NEK2 and DYNC2H1 mutations +HPGD|PGDH1|PHOAR1 HPGD|NA|NA HPGD Cranioosteoarthropathy Autosomal recessive 601688 259100 4 NA HPGD|PGDH1|PHOAR1 HPGD|NA|NA HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1 Autosomal recessive 601688 259100 4 NA HPGD|PGDH1|PHOAR1 HPGD|NA|NA HPGD Digital clubbing, isolated congenital Autosomal dominant 601688 119900 4 NA -HPGD|PGDH1|PHOAR1 HPGD|NA|NA HPGD Cranioosteoarthropathy Autosomal recessive 601688 259100 4 NA SCA30 SCA30 SCA30 ?Spinocerebellar ataxia 30 Autosomal dominant 613371 613371 4 between rs1397413 and rs2175476; max lod 3.0 VEGFC|VRP|LMPH1D VEGFC|TBC1D8,VEGFC|NA TBC1D8,VEGFC Lymphedema, hereditary, ID Autosomal dominant 601528 615907 4 NA AGA AGA AGA Aspartylglucosaminuria Autosomal recessive 613228 208400 4 NA -TENM3|ODZ3|TNM3|KIAA1455|MCOPCB9 TENM3|TENM1,TENM3|NA|TENM3|NA TENM3,TENM1 ?Microphthalmia, isolated, with coloboma 9 Autosomal recessive 610083 615145 4 mutation identified in one MCOPCB9 family +TENM3|ODZ3|TNM3|KIAA1455|MCOPCB9 TENM3|TENM1,TENM3|NA|TENM3|NA TENM3,TENM1 Microphthalmia, isolated, with coloboma 9 Autosomal recessive 610083 615145 4 NA DFNA24 DFNA24 DFNA24 Deafness, autosomal dominant 24 Autosomal dominant 606282 606282 4 NA TRAPPC11|C4orf41|LGMD2S TRAPPC11|TRAPPC11|NA TRAPPC11 Muscular dystrophy, limb-girdle, type 2S Autosomal recessive 614138 615356 4 NA CCDC111|MYP22 PRIMPOL|NA PRIMPOL Myopia 22, autosomal dominant Autosomal dominant 615421 615420 4 NA @@ -1690,22 +1708,22 @@ MCDR3 MCDR3 MCDR3 Macular dystrophy, retinal, 3 Autosomal dominant 608850 608850 MHS6 MHS6 MHS6 Malignant hyperthermia susceptibility 6 None 601888 601888 5 NA MYP16 MYP16 MYP16 Myopia 16 None 612554 612554 5 max lod at D5S2505 TST2 MPST MPST Tuberculin skin test reactivity QTL None 613637 613637 5 max lod at 16:2.70Mb +SDHA|SDH1|SDHF|CMD1GG|PGL5 SDHA|SDHB|SDHA|NA|NA SDHA,SDHB Paragangliomas 5 Autosomal dominant 600857 614165 5 copy on 3q29 SDHA|SDH1|SDHF|CMD1GG|PGL5 SDHA|SDHB|SDHA|NA|NA SDHA,SDHB Mitochondrial respiratory chain complex II deficiency Autosomal recessive 600857 252011 5 copy on 3q29 SDHA|SDH1|SDHF|CMD1GG|PGL5 SDHA|SDHB|SDHA|NA|NA SDHA,SDHB Leigh syndrome Mitochondrial; Autosomal recessive 600857 256000 5 copy on 3q29 SDHA|SDH1|SDHF|CMD1GG|PGL5 SDHA|SDHB|SDHA|NA|NA SDHA,SDHB Cardiomyopathy, dilated, 1GG None 600857 613642 5 copy on 3q29 -SDHA|SDH1|SDHF|CMD1GG|PGL5 SDHA|SDHB|SDHA|NA|NA SDHA,SDHB Paragangliomas 5 Autosomal dominant 600857 614165 5 copy on 3q29 SLC9A3|NHE3|DIAR8 SLC9A3|SLC9A3|NA SLC9A3 Diarrhea 8, secretory sodium, congenital Autosomal recessive 182307 616868 5 pseudogene on chr.10 SLC6A19|HND SLC6A19|NA SLC6A19 Iminoglycinuria, digenic Autosomal recessive 608893 242600 5 NA SLC6A19|HND SLC6A19|NA SLC6A19 Hyperglycinuria Autosomal dominant 608893 138500 5 NA SLC6A19|HND SLC6A19|NA SLC6A19 Hartnup disorder Autosomal recessive 608893 234500 5 NA +TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Melanoma, cutaneous malignant, 9 None 187270 615134 5 deleted in cri du chat +TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Leukemia, acute myeloid Autosomal dominant 187270 601626 5 deleted in cri du chat TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Dyskeratosis congenita, autosomal recessive 4 Autosomal dominant; Autosomal recessive 187270 613989 5 deleted in cri du chat TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Dyskeratosis congenita, autosomal dominant 2 Autosomal dominant; Autosomal recessive 187270 613989 5 deleted in cri du chat TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Autosomal dominant 187270 614742 5 deleted in cri du chat -TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Melanoma, cutaneous malignant, 9 None 187270 615134 5 deleted in cri du chat -TERT|TCS1|EST2|DKCA2|DKCB4|PFBMFT1|CMM9 TERT|TERT|TERT|NA|NA|NA|NA TERT Leukemia, acute myeloid Autosomal dominant 187270 601626 5 deleted in cri du chat SLC6A3|DAT1|PKDYS SLC6A3|LMO3,SLC6A3|NA SLC6A3,LMO3 Nicotine dependence, protection against None 126455 188890 5 NA SLC6A3|DAT1|PKDYS SLC6A3|LMO3,SLC6A3|NA SLC6A3,LMO3 Parkinsonism-dystonia, infantile Autosomal recessive 126455 613135 5 NA -NDUFS6 NDUFS6 NDUFS6 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 603848 252010 5 NA +NDUFS6 NDUFS6 NDUFS6 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 603848 252010 5 NA FAME3|FCMTE3 NA|FCMTE3 FCMTE3 Epilepsy, myoclonic, familial adult, 3 Autosomal dominant 613608 613608 5 between D5S580 and D5S2096 NSUN2|TRM4|SAKI|MISU|MRT5 NSUN2|NSUN2|NA|NA|NSUN2 NSUN2 Mental retardation, autosomal recessive 5 Autosomal recessive 610916 611091 5 NA MTRR MTRR MTRR Neural tube defects, folate-sensitive, susceptibility to Autosomal recessive 602568 601634 5 NA @@ -1713,121 +1731,126 @@ MTRR MTRR MTRR Homocystinuria-megaloblastic anemia, cbl E type Autosomal recessi ANIB4 ANIB4 ANIB4 Aneurysm, intracranial berry, 4 None 610213 610213 5 max lod at D5S1954 CCT5|KIAA0098|CCTE CCT5|CCT5|NA CCT5 Neuropathy, hereditary sensory, with spastic paraplegia Autosomal recessive 610150 256840 5 NA DNAH5|HL1|PCD|CILD3 DNAH5|DNAH5|DNAAF3,DNAH5,DNAI1,PCBD1|DNAH5 DNAI1,DNAAF3,PCBD1,DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus None 603335 608644 5 NA +TRIO|MRD44 TRIO|NA TRIO Mental retardation, autosomal dominant 44 Autosomal dominant 601893 617061 5 NA +OTULIN|FAM105B|GUM|AIPDS OTULIN|OTULIN|NA|NA OTULIN Autoinflammation, panniculitis, and dermatosis syndrome Autosomal recessive 615712 617099 5 NA ANKH|HANK|ANK|CMDJ|CCAL2|CPPDD ANKH|ANKH|ANK1,ANKH|ANKH|ANKH|ANKH ANKH,ANK1 Craniometaphyseal dysplasia Autosomal dominant 605145 123000 5 NA ANKH|HANK|ANK|CMDJ|CCAL2|CPPDD ANKH|ANKH|ANK1,ANKH|ANKH|ANKH|ANKH ANKH,ANK1 Chondrocalcinosis 2 Autosomal dominant 605145 118600 5 NA FAM134B|HSAN2B FAM134B|NA FAM134B Neuropathy, hereditary sensory and autonomic, type IIB Autosomal recessive 613114 613115 5 NA NPR3|ANPRC NPR3,NPRL3|NPR3 NPR3,NPRL3 ?Hypertension, salt-resistant None 108962 NA 5 NA +SLC45A2|MATP|AIM1|SHEP5|OCA4 SLC45A2|SLC45A2|AIM1|NA|SLC45A2 AIM1,SLC45A2 Albinism, oculocutaneous, type IV None 606202 606574 5 NA SLC45A2|MATP|AIM1|SHEP5|OCA4 SLC45A2|SLC45A2|AIM1|NA|SLC45A2 AIM1,SLC45A2 Skin/hair/eye pigmentation 5, dark/light eyes Autosomal recessive 606202 227240 5 NA SLC45A2|MATP|AIM1|SHEP5|OCA4 SLC45A2|SLC45A2|AIM1|NA|SLC45A2 AIM1,SLC45A2 Skin/hair/eye pigmentation 5, dark/fair skin Autosomal recessive 606202 227240 5 NA SLC45A2|MATP|AIM1|SHEP5|OCA4 SLC45A2|SLC45A2|AIM1|NA|SLC45A2 AIM1,SLC45A2 Skin/hair/eye pigmentation 5, black/nonblack hair Autosomal recessive 606202 227240 5 NA -SLC45A2|MATP|AIM1|SHEP5|OCA4 SLC45A2|SLC45A2|AIM1|NA|SLC45A2 AIM1,SLC45A2 Albinism, oculocutaneous, type IV None 606202 606574 5 NA AMACR|CBAS4|AMACRD AMACR|NA|NA AMACR Bile acid synthesis defect, congenital, 4 Autosomal recessive 604489 214950 5 NA AMACR|CBAS4|AMACRD AMACR|NA|NA AMACR Alpha-methylacyl-CoA racemase deficiency Autosomal recessive 604489 614307 5 NA +DNAJC21|DNAJA5|BMFS3 DNAJC21|DNAJC21|NA DNAJC21 Bone marrow failure syndrome 3 Autosomal recessive 617048 617052 5 NA PRLR|MFAB|HPRL PRLR|NA|NA PRLR Multiple fibroadenomas of the breast Autosomal dominant 176761 615554 5 mutation identified in 1 family with HPRL PRLR|MFAB|HPRL PRLR|NA|NA PRLR ?Hyperprolactinemia Autosomal dominant 176761 615555 5 mutation identified in 1 family with HPRL IL7R|IL7RA|CD127 IL7R|NA|IL7R IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type Autosomal recessive 146661 608971 5 NA NADK2|C5orf33|DECRD NADK2|NADK2|NA NADK2 ?2,4-dienoyl-CoA reductase deficiency Autosomal recessive 615787 616034 5 mutation identified in 1 DECRD family SLC1A3|EAAT1|EA6 SLC1A3|SLC1A3|SLC1A3 SLC1A3 Episodic ataxia, type 6 None 600111 612656 5 NA NIPBL|CDLS1 NIPBL|NA NIPBL Cornelia de Lange syndrome 1 Autosomal dominant 608667 122470 5 NA -C5orf42|JBTS17|OFD6 C5orf42|C5orf42|NA C5orf42 Orofaciodigital syndrome VI Autosomal recessive 614571 277170 5 NA C5orf42|JBTS17|OFD6 C5orf42|C5orf42|NA C5orf42 Joubert syndrome 17 Autosomal recessive 614571 614615 5 NA +C5orf42|JBTS17|OFD6 C5orf42|C5orf42|NA C5orf42 Orofaciodigital syndrome VI Autosomal recessive 614571 277170 5 NA NUP155|KIAA0791|ATFB15 NUP155|NUP155|NA NUP155 ?Atrial fibrillation 15 Autosomal recessive 606694 615770 5 mutation identified in 1 ATFB15 family GDNF|HSCR3 GDNF|NA GDNF Pheochromocytoma, modifier of Autosomal dominant 600837 171300 5 NA GDNF|HSCR3 GDNF|NA GDNF Hirschsprung disease, susceptibility to, 3 None 600837 613711 5 NA GDNF|HSCR3 GDNF|NA GDNF Central hypoventilation syndrome Autosomal dominant 600837 209880 5 NA LIFR|STWS|SWS|SJS2 LIFR|NA|NA|NA LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome Autosomal recessive 151443 601559 5 NA OSMR|OSMRB|PLCA1 OSMR|OSMR|NA OSMR Amyloidosis, primary localized cutaneous, 1 Autosomal dominant 601743 105250 5 NA -C9|C9D|ARMD15 C9|NA|NA C9 Macular degeneration, age-related, 15, susceptibility to None 120940 615591 5 NA C9|C9D|ARMD15 C9|NA|NA C9 C9 deficiency None 120940 613825 5 NA +C9|C9D|ARMD15 C9|NA|NA C9 Macular degeneration, age-related, 15, susceptibility to None 120940 615591 5 NA C7 C7,CXCL10 CXCL10,C7 C7 deficiency None 217070 610102 5 NA C6 C6,PSMA7 C6,PSMA7 Combined C6/C7 deficiency None 217050 NA 5 NA C6 C6,PSMA7 C6,PSMA7 C6 deficiency None 217050 612446 5 NA OXCT1|OXCT|SCOT OXCT1|OXCT1|OXCT1 OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency None 601424 245050 5 NA -GHR|GHIP GHR|NA GHR Hypercholesterolemia, familial, modifier of Autosomal dominant 600946 143890 5 NA -GHR|GHIP GHR|NA GHR Laron dwarfism Autosomal recessive 600946 262500 5 NA GHR|GHIP GHR|NA GHR Increased responsiveness to growth hormone None 600946 NA 5 NA GHR|GHIP GHR|NA GHR Growth hormone insensitivity, partial None 600946 604271 5 NA +GHR|GHIP GHR|NA GHR Hypercholesterolemia, familial, modifier of Autosomal dominant 600946 143890 5 NA +GHR|GHIP GHR|NA GHR Laron dwarfism Autosomal recessive 600946 262500 5 NA NNT|GCCD4 NNT|NA NNT Glucocorticoid deficiency 4 Autosomal recessive 607878 614736 5 NA FGF10 FGF10 FGF10 LADD syndrome Autosomal dominant 602115 149730 5 NA FGF10 FGF10 FGF10 Aplasia of lacrimal and salivary glands Autosomal dominant 602115 180920 5 NA HCN1|BCNG1|EIEE24 HCN1|HCN1|NA HCN1 Epileptic encephalopathy, early infantile, 24 Autosomal dominant 602780 615871 5 NA ITGA2|CD49B|BR|BDPLT9 ITGA2|ITGA2|NA|NA ITGA2 ?Glycoprotein Ia deficiency Autosomal dominant 192974 614200 5 NA MOCS2|MPTS|MOCODB MOCS2|NA|NA MOCS2 Molybdenum cofactor deficiency B Autosomal recessive 603708 252160 5 NA -NDUFS4|AQDQ NDUFS4|NDUFS4 NDUFS4 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 602694 252010 5 NA +NDUFS4|AQDQ NDUFS4|NDUFS4 NDUFS4 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 602694 252010 5 NA NDUFS4|AQDQ NDUFS4|NDUFS4 NDUFS4 Leigh syndrome Mitochondrial; Autosomal recessive 602694 256000 5 NA HSPB3|HSPL27|HMN2C|DHMN2C HSPB3|HSPB3|NA|NA HSPB3 ?Neuronopathy, distal hereditary motor, type IIC Autosomal dominant 604624 613376 5 mutation identified in 1 HMN2C family CCNO|UNG2|CILD29 CCNO|CCNO,UNG|NA CCNO,UNG Ciliary dyskinesia, primary, 29 Autosomal recessive 607752 615872 5 NA -IL31RA|GLMR|GPL|PLCA2 IL31RA|NA|NA|NA IL31RA Amyloidosis, primary localized cutaneous, 2 None 609510 613955 5 NA +IL31RA|GLMR|GPL|PLCA2 IL31RA|NA|NA|NA IL31RA Amyloidosis, primary localized cutaneous, 2 Autosomal dominant 609510 613955 5 NA MAP3K1|MEKK1|MEKK|SRXY6 MAP3K1|MAP3K1|MAP3K1|NA MAP3K1 46XY sex reversal 6 Autosomal dominant 600982 613762 5 NA PDE4D|DPDE3|STRK1|ACRDYS2 PDE4D|PDE4D|NA|NA PDE4D Stroke, susceptibility to, 1 None 600129 606799 5 NA PDE4D|DPDE3|STRK1|ACRDYS2 PDE4D|PDE4D|NA|NA PDE4D Acrodysostosis 2, with or without hormone resistance Autosomal dominant 600129 614613 5 NA EJM4 CACNB4 CACNB4 Myoclonic epilepsy, juvenile, 4 Autosomal dominant 611364 611364 5 max lod at D5S459 ERCC8|CKN1|CSA|UVSS2 ERCC8|ERCC8|CSH1,ERCC8|NA ERCC8,CSH1 UV-sensitive syndrome 2 Autosomal recessive 609412 614621 5 NA ERCC8|CKN1|CSA|UVSS2 ERCC8|ERCC8|CSH1,ERCC8|NA ERCC8,CSH1 Cockayne syndrome, type A Autosomal recessive 609412 216400 5 NA +NDUFAF2|NDUFA12L|MMTN|B17.2L NDUFAF2|NDUFAF2|NDUFAF2|NDUFAF2 NDUFAF2 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 609653 252010 5 pseudogene on chr.2 NDUFAF2|NDUFA12L|MMTN|B17.2L NDUFAF2|NDUFAF2|NDUFAF2|NDUFAF2 NDUFAF2 Leigh syndrome Mitochondrial; Autosomal recessive 609653 256000 5 pseudogene on chr.2 -NDUFAF2|NDUFA12L|MMTN|B17.2L NDUFAF2|NDUFAF2|NDUFAF2|NDUFAF2 NDUFAF2 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 609653 252010 5 pseudogene on chr.2 ZSWIM6|KIAA1577|AFND ZSWIM6|ZSWIM6|NA ZSWIM6 Acromelic frontonasal dysostosis Autosomal dominant 615951 603671 5 NA KIF2A|CDCBM3 KIF2A|NA KIF2A Cortical dysplasia, complex, with other brain malformations 3 Autosomal dominant 602591 615411 5 NA HTR1A|ADRB2RL1|PFMCD HTR1A|HTR1A|NA HTR1A Periodic fever, menstrual cycle dependent Autosomal dominant 109760 614674 5 NA GINGF2|GGF2|HGF2 GINGF2|GINGF2|GINGF2 GINGF2 Fibromatosis, gingival, 2 None 605544 605544 5 formerly GINGF2 used for a locus on 2p16-p13 -PIK3R1|GRB1|AGM7|SHORT|IMD36 PIK3R1|PIK3R1|NA|NA|NA PIK3R1 ?Agammaglobulinemia 7, autosomal recessive Autosomal recessive 171833 615214 5 mutation identified in 1 AGM7 family PIK3R1|GRB1|AGM7|SHORT|IMD36 PIK3R1|PIK3R1|NA|NA|NA PIK3R1 SHORT syndrome Autosomal dominant 171833 269880 5 mutation identified in 1 AGM7 family PIK3R1|GRB1|AGM7|SHORT|IMD36 PIK3R1|PIK3R1|NA|NA|NA PIK3R1 Immunodeficiency 36 Autosomal dominant 171833 616005 5 mutation identified in 1 AGM7 family +PIK3R1|GRB1|AGM7|SHORT|IMD36 PIK3R1|PIK3R1|NA|NA|NA PIK3R1 ?Agammaglobulinemia 7, autosomal recessive Autosomal recessive 171833 615214 5 mutation identified in 1 AGM7 family MARVELD2|MARVD2|TRIC|DFNB49 MARVELD2|NA|MARVELD2|MARVELD2 MARVELD2 Deafness, autosomal recessive 49 Autosomal recessive 610572 610153 5 NA OCLN|BLCPMG OCLN|NA OCLN Band-like calcification with simplified gyration and polymicrogyria Autosomal recessive 602876 251290 5 NA SMN2 SMN2 SMN2 Spinal muscular atrophy, type III, modifier of Autosomal recessive 601627 253400 5 NA -SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-2 Autosomal recessive 600354 253550 5 NA -SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-1 Autosomal recessive 600354 253300 5 NA SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-4 Autosomal recessive 600354 271150 5 NA SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-3 Autosomal recessive 600354 253400 5 NA +SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-2 Autosomal recessive 600354 253550 5 NA +SMN1|SMA1|SMA2|SMA3|SMA4 SMN1|SMN1|SMN1|SMN1|NA SMN1 Spinal muscular atrophy-1 Autosomal recessive 600354 253300 5 NA MCCC2|MCCB MCCC2|MCCC2 MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency Autosomal recessive 609014 210210 5 NA CARTPT|CART CARTPT|CARTPT CARTPT ?Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 602606 601665 5 mutation identified in 1 family HEXB HEXB HEXB Sandhoff disease, infantile, juvenile, and adult forms Autosomal recessive 606873 268800 5 NA HMGCR|LDLCQ3 HMGCR|NA HMGCR Statins, attenuated cholesterol lowering by None 142910 NA 5 NA HMGCR|LDLCQ3 HMGCR|NA HMGCR Low density lipoprotein cholesterol level QTL 3 None 142910 NA 5 NA COL4A3BP|GPBP|CERT|MRD34 COL4A3BP|COL4A3BP|COL4A3BP|NA COL4A3BP Mental retardation, autosomal dominant 34 None 604677 616351 5 NA -PDE8B|PPNAD3|ADSD PDE8B|NA|NA PDE8B Pigmented nodular adrenocortical disease, primary, 3 None 603390 614190 5 NA PDE8B|PPNAD3|ADSD PDE8B|NA|NA PDE8B Striatal degeneration, autosomal dominant Autosomal dominant 603390 609161 5 NA +PDE8B|PPNAD3|ADSD PDE8B|NA|NA PDE8B Pigmented nodular adrenocortical disease, primary, 3 None 603390 614190 5 NA AP3B1|ADTB3A|HPS2 AP3B1|AP3B1|AP3B1,TFF1 AP3B1,TFF1 Hermansky-Pudlak syndrome 2 Autosomal recessive 603401 608233 5 NA ARSB|MPS6 ARSB|NA ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) Autosomal recessive 611542 253200 5 NA DMGDH|DMGDHD DMGDH|NA DMGDH Dimethylglycine dehydrogenase deficiency Autosomal recessive 605849 605850 5 NA DHFR DHFR DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency Autosomal recessive 126060 613839 5 NA -MSH3 MSH3 MSH3 Endometrial carcinoma, somatic None 600887 608089 5 5' to DHFR +MSH3|FAP4 MSH3|NA MSH3 Familial adenomatous polyposis 4 Autosomal recessive 600887 617100 5 5' to DHFR +MSH3|FAP4 MSH3|NA MSH3 Endometrial carcinoma, somatic None 600887 608089 5 5' to DHFR XRCC4|SSMED XRCC4|NA XRCC4 Short stature, microcephaly, and endocrine dysfunction Autosomal recessive 194363 616541 5 between D5S427 and D5S401 VCAN|CSPG2|WGN|WGN1|ERVR VCAN|VCAN|NA|NA|NA VCAN Wagner syndrome 1 Autosomal dominant 118661 143200 5 NA -RASA1|GAP|CMAVM|PKWS RASA1|RASA1|NA|NA RASA1 Basal cell carcinoma, somatic None 139150 605462 5 NA RASA1|GAP|CMAVM|PKWS RASA1|RASA1|NA|NA RASA1 Parkes Weber syndrome None 139150 608355 5 NA RASA1|GAP|CMAVM|PKWS RASA1|RASA1|NA|NA RASA1 Capillary malformation-arteriovenous malformation Autosomal dominant 139150 608354 5 NA -MEF2C|C5DELq14.3|DEL5q14.3 MEF2C|NA|NA MEF2C Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Isolated cases 600662 613443 5 NA -MEF2C|C5DELq14.3|DEL5q14.3 MEF2C|NA|NA MEF2C Chromosome 5q14.3 deletion syndrome Isolated cases 600662 613443 5 NA -ADGRV1|GPR98|MASS1|VLGR1|KIAA0686|FEB4|USH2C NA|GPR98|GPR98|NA|GPR98|FEB4,GPR98|GPR98 FEB4,GPR98 Usher syndrome, type 2C, GPR98/PDZD7 digenic Digenic dominant; Autosomal recessive 602851 605472 5 mutation identified in 1 FEB4 family -ADGRV1|GPR98|MASS1|VLGR1|KIAA0686|FEB4|USH2C NA|GPR98|GPR98|NA|GPR98|FEB4,GPR98|GPR98 FEB4,GPR98 Usher syndrome, type 2C Digenic dominant; Autosomal recessive 602851 605472 5 mutation identified in 1 FEB4 family +RASA1|GAP|CMAVM|PKWS RASA1|RASA1|NA|NA RASA1 Basal cell carcinoma, somatic None 139150 605462 5 NA +MEF2C|C5DELq14.3|DEL5q14.3 MEF2C|NA|NA MEF2C Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Autosomal dominant 600662 613443 5 NA +MEF2C|C5DELq14.3|DEL5q14.3 MEF2C|NA|NA MEF2C Chromosome 5q14.3 deletion syndrome Autosomal dominant 600662 613443 5 NA +ADGRV1|GPR98|MASS1|VLGR1|KIAA0686|FEB4|USH2C NA|GPR98|GPR98|NA|GPR98|FEB4,GPR98|GPR98 FEB4,GPR98 Usher syndrome, type 2C, GPR98/PDZD7 digenic Autosomal recessive; Digenic dominant 602851 605472 5 mutation identified in 1 FEB4 family +ADGRV1|GPR98|MASS1|VLGR1|KIAA0686|FEB4|USH2C NA|GPR98|GPR98|NA|GPR98|FEB4,GPR98|GPR98 FEB4,GPR98 Usher syndrome, type 2C Autosomal recessive; Digenic dominant 602851 605472 5 mutation identified in 1 FEB4 family ADGRV1|GPR98|MASS1|VLGR1|KIAA0686|FEB4|USH2C NA|GPR98|GPR98|NA|GPR98|FEB4,GPR98|GPR98 FEB4,GPR98 ?Febrile seizures, familial, 4 Autosomal dominant 602851 604352 5 mutation identified in 1 FEB4 family NR2F1|TFCOUP1|ERBAL3|EAR3|BBSOAS NR2F1|NR2F1|NR2F1|NA|NA NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome Autosomal dominant 132890 615722 5 NA TTC37|KIAA0372 TTC37|TTC37 TTC37 Trichohepatoenteric syndrome 1 Autosomal recessive 614589 222470 5 NA -PCSK1|NEC1|PC1|PC3|BMIQ12 PCSK1|PCSK1|PCSK1|BTG2,CBX8,PCSK1|NA PCSK1,BTG2,CBX8 Obesity with impaired prohormone processing Isolated cases 162150 600955 5 NA PCSK1|NEC1|PC1|PC3|BMIQ12 PCSK1|PCSK1|PCSK1|BTG2,CBX8,PCSK1|NA PCSK1,BTG2,CBX8 Obesity, susceptibility to, BMIQ12 None 162150 612362 5 NA +PCSK1|NEC1|PC1|PC3|BMIQ12 PCSK1|PCSK1|PCSK1|BTG2,CBX8,PCSK1|NA PCSK1,BTG2,CBX8 Obesity with impaired prohormone processing Isolated cases 162150 600955 5 NA CAST|PLACK CAST,CD3EAP,ERC2|NA CD3EAP,CAST,ERC2 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads Autosomal recessive 114090 616295 5 NA GLC1M GLC1M GLC1M Glaucoma 1, open angle, M Autosomal dominant 610535 610535 5 between D5S2051 and D5S2090 SLC25A46|HMSN6B SLC25A46|NA SLC25A46 Neuropathy, hereditary motor and sensory, type VIB Autosomal recessive 610826 616505 5 NA WDR36|TAWDRP|GLC1G WDR36|NA|WDR36 WDR36 Glaucoma 1, open angle, G None 609669 609887 5 NA -APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Adenomatous polyposis coli Autosomal dominant 611731 175100 5 150kb distal to MCC -APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Gastric cancer, somatic None 611731 613659 5 150kb distal to MCC -APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Adenoma, periampullary, somatic None 611731 NA 5 150kb distal to MCC -APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Gardner syndrome Autosomal dominant 611731 175100 5 150kb distal to MCC APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Desmoid disease, hereditary Autosomal dominant 611731 135290 5 150kb distal to MCC APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Colorectal cancer, somatic None 611731 114500 5 150kb distal to MCC APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Brain tumor-polyposis syndrome 2 Autosomal dominant 611731 175100 5 150kb distal to MCC APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Hepatoblastoma, somatic None 611731 114550 5 150kb distal to MCC +APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Adenomatous polyposis coli Autosomal dominant 611731 175100 5 150kb distal to MCC +APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Gastric cancer, somatic None 611731 613659 5 150kb distal to MCC +APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Adenoma, periampullary, somatic None 611731 NA 5 150kb distal to MCC +APC|GS|FPC|BTPS2 APC|NA|NA|NA APC Gardner syndrome Autosomal dominant 611731 175100 5 150kb distal to MCC MCC MCC MCC Colorectal cancer, somatic None 159350 114500 5 NA SCZD1 SCZD1 SCZD1 Schizophrenia Autosomal dominant 181510 181500 5 NA HSD17B4|PRLTS1 HSD17B4|NA HSD17B4 Perrault syndrome 1 Autosomal recessive 601860 233400 5 NA HSD17B4|PRLTS1 HSD17B4|NA HSD17B4 D-bifunctional protein deficiency Autosomal recessive 601860 261515 5 NA +PRDM6|PRISM|PDA3 PRDM6|NA|NA PRDM6 Patent ductus arteriosus 3 Autosomal dominant 616982 617039 5 NA CEP120|CCDC100|SRTD13 CEP120|CEP120|NA CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly Autosomal recessive 613446 616300 5 NA ALDH7A1|ATQ1|EPD|PDE ALDH7A1|ALDH7A1|ALDH7A1|ALDH7A1 ALDH7A1 Epilepsy, pyridoxine-dependent Autosomal recessive 107323 266100 5 NA LMNB1|ADLD LMNB1|NA LMNB1 Leukodystrophy, adult-onset, autosomal dominant Autosomal dominant 150340 169500 5 NA -MEGF10|KIAA1780|EMARDD MEGF10|MEGF10|NA MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Autosomal recessive 612453 614399 5 NA MEGF10|KIAA1780|EMARDD MEGF10|MEGF10|NA MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Autosomal recessive 612453 614399 5 NA +MEGF10|KIAA1780|EMARDD MEGF10|MEGF10|NA MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Autosomal recessive 612453 614399 5 NA FBN2|CCA|EOMD FBN2|FBN2|NA FBN2 Macular degeneration, early-onset Autosomal dominant 612570 616118 5 NA FBN2|CCA|EOMD FBN2|FBN2|NA FBN2 Contractural arachnodactyly, congenital Autosomal dominant 612570 121050 5 NA HINT1|PRKCNH1|NMAN HINT1|HINT1|NA HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive Autosomal recessive 601314 137200 5 NA @@ -1840,15 +1863,15 @@ IBD5 IBD5 IBD5 Inflammatory bowel disease 5 None 606348 606348 5 NA IDDM18 IDDM18 IDDM18 Diabetes mellitus, insulin-dependent, 18 None 605598 605598 5 close to IL12B IGES IGES IGES ?Allergy and asthma susceptibility None 147061 147061 5 NA PDB4 PDB4 PDB4 Paget disease of bone 4 Autosomal dominant 606263 606263 5 NA -ACSL6|FACL6|ACS2 ACSL6|ACSL6|ACSL5,ACSL6 ACSL6,ACSL5 Myelogenous leukemia, acute None 604443 NA 5 NA ACSL6|FACL6|ACS2 ACSL6|ACSL6|ACSL5,ACSL6 ACSL6,ACSL5 Myelodysplastic syndrome None 604443 NA 5 NA +ACSL6|FACL6|ACS2 ACSL6|ACSL6|ACSL5,ACSL6 ACSL6,ACSL5 Myelogenous leukemia, acute None 604443 NA 5 NA RIL PDLIM4 PDLIM4 Osteoporosis, susceptibility to Autosomal dominant 603422 166710 5 NA SLC22A4|OCTN1 SLC22A4|SLC22A4 SLC22A4 Rheumatoid arthritis, susceptibility to None 604190 180300 5 NA SLC22A5|OCTN2|CDSP|SCD SLC22A5|SLC22A5|SLC22A5|SCD,SLC22A5 SLC22A5,SCD Carnitine deficiency, systemic primary Autosomal recessive 603377 212140 5 NA -IRF1|MAR IRF1|IRF1 IRF1 Myelodysplastic syndrome, preleukemic None 147575 NA 5 NA -IRF1|MAR IRF1|IRF1 IRF1 Gastric cancer, somatic None 147575 613659 5 NA IRF1|MAR IRF1|IRF1 IRF1 Nonsmall cell lung cancer, somatic None 147575 211980 5 NA IRF1|MAR IRF1|IRF1 IRF1 Myelogenous leukemia, acute None 147575 NA 5 NA +IRF1|MAR IRF1|IRF1 IRF1 Myelodysplastic syndrome, preleukemic None 147575 NA 5 NA +IRF1|MAR IRF1|IRF1 IRF1 Gastric cancer, somatic None 147575 613659 5 NA RAD50|NBSLD RAD50|NA RAD50 Nijmegen breakage syndrome-like disorder None 604040 613078 5 NA IL13|ALRH|BHR1 IL13|IL13|IL13 IL13 Asthma, susceptibility to Autosomal dominant 147683 600807 5 NA IL13|ALRH|BHR1 IL13|IL13|IL13 IL13 Allergic rhinitis, susceptibility to None 147683 607154 5 NA @@ -1858,19 +1881,19 @@ UBE2B|RAD6B UBE2B|UBE2B UBE2B ?Male infertility None 179095 NA 5 NA SAR1B|CMRD|SARA2|ANDD SAR1B|NA|SAR1B|NA SAR1B Chylomicron retention disease Autosomal recessive 607690 246700 5 NA PITX1|PTX1|BFT|POTX|CCF|LBNBG PITX1|CRP,ERGIC2,PITX1|PITX1|PITX1|NA|NA CRP,PITX1,ERGIC2 Liebenberg syndrome Autosomal dominant 602149 186550 5 NA PITX1|PTX1|BFT|POTX|CCF|LBNBG PITX1|CRP,ERGIC2,PITX1|PITX1|PITX1|NA|NA CRP,PITX1,ERGIC2 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Autosomal dominant 602149 119800 5 NA +TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Thiel-Behnke type Autosomal dominant 601692 602082 5 NA +TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Avellino type Autosomal dominant 601692 607541 5 NA TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Reis-Bucklers type None 601692 608470 5 NA TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, lattice type IIIA Autosomal dominant 601692 608471 5 NA TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, lattice type I Autosomal dominant 601692 122200 5 NA TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Groenouw type I Autosomal dominant 601692 121900 5 NA TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, epithelial basement membrane Autosomal dominant 601692 121820 5 NA -TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Thiel-Behnke type Autosomal dominant 601692 602082 5 NA -TGFBI|CSD2|CDGG1|CSD|BIGH3|CDG2|EBMD TGFBI|TGFBI|TGFBI|CSAD|TGFBI|NA|NA TGFBI,CSAD Corneal dystrophy, Avellino type Autosomal dominant 601692 607541 5 NA KLHL3|PHA2D KLHL3|NA KLHL3 Pseudohypoaldosteronism, type IID Autosomal dominant; Autosomal recessive 605775 614495 5 NA +MYOT|TTOD|MFM3 MYOT|NA|NA MYOT Myopathy, myofibrillar, 3 Autosomal dominant 604103 609200 5 NA MYOT|TTOD|MFM3 MYOT|NA|NA MYOT Muscular dystrophy, limb-girdle, type 1A Autosomal dominant 604103 159000 5 NA MYOT|TTOD|MFM3 MYOT|NA|NA MYOT Myopathy, spheroid body Autosomal dominant 604103 182920 5 NA -MYOT|TTOD|MFM3 MYOT|NA|NA MYOT Myopathy, myofibrillar, 3 Autosomal dominant 604103 609200 5 NA -REEP2|C5orf19|SPG72 REEP2|REEP2|REEP2 REEP2 ?Spastic paraplegia 72, autosomal recessive Autosomal dominant; Autosomal recessive 609347 615625 5 mutation identified in 1 family each SPG72 AR and AD REEP2|C5orf19|SPG72 REEP2|REEP2|REEP2 REEP2 ?Spastic paraplegia 72, autosomal dominant Autosomal dominant; Autosomal recessive 609347 615625 5 mutation identified in 1 family each SPG72 AR and AD +REEP2|C5orf19|SPG72 REEP2|REEP2|REEP2 REEP2 ?Spastic paraplegia 72, autosomal recessive Autosomal dominant; Autosomal recessive 609347 615625 5 mutation identified in 1 family each SPG72 AR and AD HSPA9|HSPA9B|MOT2|GRP75|EVPLS|SIDBA4 HSPA9|HSPA9|NA|HSPA9|NA|NA HSPA9 Even-plus syndrome Autosomal recessive 600548 616854 5 NA HSPA9|HSPA9B|MOT2|GRP75|EVPLS|SIDBA4 HSPA9|HSPA9|NA|HSPA9|NA|NA HSPA9 Anemia, sideroblastic, 4 Autosomal dominant 600548 182170 5 NA CTNNA1|MDPT2 CTNNA1|NA CTNNA1 Macular dystrophy, patterned, 2 Autosomal dominant 116805 608970 5 NA @@ -1892,54 +1915,54 @@ GRXCR2|DFNB101 GRXCR2|GRXCR2 GRXCR2 ?Deafness, autosomal recessive 101 Autosomal LARS|LFIS|ILFS1 LARS|NA|NA LARS ?Infantile liver failure syndrome 1 Autosomal recessive 151350 615438 5 mutation identified in 1 family POU4F3|BRN3C POU4F3|POU4F3 POU4F3 Deafness, autosomal dominant 15 Autosomal dominant 602460 602459 5 NA PPP2R2B PPP2R2B PPP2R2B Spinocerebellar ataxia 12 Autosomal dominant 604325 604326 5 NA +SPINK1|PSTI|PCTT|TATI|TCP SPINK1|SPINK1|SPINK1|SPINK1|NA SPINK1 Fibrocalculous pancreatic diabetes, susceptibility to Autosomal dominant; Autosomal recessive 167790 608189 5 NA SPINK1|PSTI|PCTT|TATI|TCP SPINK1|SPINK1|SPINK1|SPINK1|NA SPINK1 Tropical calcific pancreatitis Autosomal dominant; Autosomal recessive 167790 608189 5 NA SPINK1|PSTI|PCTT|TATI|TCP SPINK1|SPINK1|SPINK1|SPINK1|NA SPINK1 Pancreatitis, hereditary Autosomal dominant 167790 167800 5 NA -SPINK1|PSTI|PCTT|TATI|TCP SPINK1|SPINK1|SPINK1|SPINK1|NA SPINK1 Fibrocalculous pancreatic diabetes, susceptibility to Autosomal dominant; Autosomal recessive 167790 608189 5 NA SCGB3A2|UGRP1 SCGB3A2|SCGB3A2 SCGB3A2 Asthma, susceptibility to Autosomal dominant 606531 600807 5 NA SPINK5|LEKTI SPINK5|SPINK5 SPINK5 Netherton syndrome Autosomal recessive 605010 256500 5 NA SPINK5|LEKTI SPINK5|SPINK5 SPINK5 Atopy Autosomal dominant 605010 147050 5 NA FBXO38|FBX38|MOKA|HMN2D FBXO38|NA|FBXO38|NA FBXO38 Neuronopathy, distal hereditary motor, type IID Autosomal dominant 608533 615575 5 NA -ADRB2 ADRB2 ADRB2 Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 109690 601665 5 NA ADRB2 ADRB2 ADRB2 Asthma, nocturnal, susceptibility to Autosomal dominant 109690 600807 5 NA ADRB2 ADRB2 ADRB2 Beta-2-adrenoreceptor agonist, reduced response to None 109690 NA 5 NA +ADRB2 ADRB2 ADRB2 Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 109690 601665 5 NA SH3TC2|KIAA1985|MNMN SH3TC2|SH3TC2|NA SH3TC2 Mononeuropathy of the median nerve, mild Autosomal dominant 608206 613353 5 NA SH3TC2|KIAA1985|MNMN SH3TC2|SH3TC2|NA SH3TC2 Charcot-Marie-Tooth disease, type 4C Autosomal recessive 608206 601596 5 NA PPARGC1B|PGC1B|PERC PPARGC1B|PPARGC1B|PPARGC1B PPARGC1B Obesity, variation in Autosomal dominant; Autosomal recessive; Multifactorial 608886 601665 5 NA PDE6A|PDEA|RP43 PDE6A|PDE6A|PDE6A PDE6A Retinitis pigmentosa 43 None 180071 613810 5 NA +SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Achondrogenesis Ib Autosomal recessive 606718 600972 5 distal to APC +SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Epiphyseal dysplasia, multiple, 4 Autosomal recessive 606718 226900 5 distal to APC SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Diastrophic dysplasia, broad bone-platyspondylic variant Autosomal recessive 606718 222600 5 distal to APC SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Diastrophic dysplasia Autosomal recessive 606718 222600 5 distal to APC SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 De la Chapelle dysplasia Autosomal recessive 606718 256050 5 distal to APC SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Atelosteogenesis II Autosomal recessive 606718 256050 5 distal to APC -SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Achondrogenesis Ib Autosomal recessive 606718 600972 5 distal to APC -SLC26A2|DTD|DTDST|D5S1708|EDM4 SLC26A2|NQO1,SLC26A2|SLC26A2|NA|SLC26A1 SLC26A1,SLC26A2,NQO1 Epiphyseal dysplasia, multiple, 4 Autosomal recessive 606718 226900 5 distal to APC CSF1R|FMS|HDLS CSF1R|CSF1R|NA CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids Autosomal dominant 164770 221820 5 FMS2 is 5' end +PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Basal ganglia calcification, idiopathic, 4 Autosomal dominant 173410 615007 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Premature aging syndrome, Penttinen type Autosomal dominant 173410 601812 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Myofibromatosis, infantile, 1 Autosomal dominant 173410 228550 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Myeloproliferative disorder with eosinophilia Autosomal dominant 173410 131440 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Kosaki overgrowth syndrome Autosomal dominant 173410 616592 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders -PDGFRB|PDGFR|IBGC4|IMF1|PENTT|KOGS PDGFRB|PDGFRB|NA|NA|NA|NA PDGFRB Basal ganglia calcification, idiopathic, 4 Autosomal dominant 173410 615007 5 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders TCOF1|MFD1|TCS1 TCOF1|NA|TERT TERT,TCOF1 Treacher Collins syndrome 1 Autosomal dominant 606847 154500 5 prox. to SPARC RPS14|EMTB RPS14|RPS14 RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic None 130620 153550 5 NA NDST1|HSST|MRT46 NDST1|NDST1|NA NDST1 Mental retardation, autosomal recessive 46 Autosomal recessive 600853 616116 5 NA IRGM|LRG47|IFI1|IBD19 IRGM|IRGM|IRGM|NA IRGM Mycobacterium tuberculosis, protection against None 608212 607948 5 NA -IRGM|LRG47|IFI1|IBD19 IRGM|IRGM|IRGM|NA IRGM Inflammatory bowel disease 19 None 608212 612278 5 NA +IRGM|LRG47|IFI1|IBD19 IRGM|IRGM|IRGM|NA IRGM Inflammatory bowel disease (Crohn disease) 19 None 608212 612278 5 NA GM2A GM2A GM2A GM2-gangliosidosis, AB variant Autosomal recessive 613109 272750 5 pseudogene on chr.3 SLC36A2|PAT2 SLC36A2|SLC36A2 SLC36A2 Iminoglycinuria, digenic Autosomal recessive 608331 242600 5 NA SLC36A2|PAT2 SLC36A2|SLC36A2 SLC36A2 Hyperglycinuria Autosomal dominant 608331 138500 5 NA SPARC|ON|OI17 SPARC|SPARC|NA SPARC Osteogenesis imperfecta, type XVII Autosomal recessive 182120 616507 5 NA GLRA1|STHE|HKPX1 GLRA1|GLRA1|NA GLRA1 Hyperekplexia, hereditary 1, autosomal dominant or recessive Autosomal dominant; Autosomal recessive 138491 149400 5 NA -SGCD|SGD|LGMD2F|CMD1L SGCD|NA|SGCD|SGCD SGCD Muscular dystrophy, limb-girdle, type 2F None 601411 601287 5 mutant in Syrian hamster cardiomyopathy +SGCD|SGD|LGMD2F|CMD1L SGCD|NA|SGCD|SGCD SGCD Muscular dystrophy, limb-girdle, type 2F Autosomal recessive 601411 601287 5 mutant in Syrian hamster cardiomyopathy SGCD|SGD|LGMD2F|CMD1L SGCD|NA|SGCD|SGCD SGCD Cardiomyopathy, dilated, 1L None 601411 606685 5 mutant in Syrian hamster cardiomyopathy HAVCR1|HAVCR HAVCR1|HAVCR1 HAVCR1 Atopy, resistance to Autosomal dominant 606518 147050 5 NA ITK|EMT|LPFS1 ITK|ITK,SLC22A3|NA ITK,SLC22A3 Lymphoproliferative syndrome 1 Autosomal recessive 186973 613011 5 NA NIPAL4|ICHYN|ARCI6 NIPAL4|NIPAL4|NA NIPAL4 Ichthyosis, congenital, autosomal recessive 6 Autosomal recessive 609383 612281 5 NA IL12B|NKSF2|IMD29 IL12B|IL12B|NA IL12B Immunodeficiency 29, mycobacteriosis Autosomal recessive 161561 614890 5 between GLR1 and GABRA1 -GABRA1|EJM5|ECA4|EIEE19 GABRA1|GABRA1|NA|NA GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5 None 137160 611136 5 in same 200kb as GABRG2 GABRA1|EJM5|ECA4|EIEE19 GABRA1|GABRA1|NA|NA GABRA1 Epilepsy, childhood absence, susceptibility to, 4 None 137160 611136 5 in same 200kb as GABRG2 GABRA1|EJM5|ECA4|EIEE19 GABRA1|GABRA1|NA|NA GABRA1 Epileptic encephalopathy, early infantile, 19 Autosomal dominant 137160 615744 5 in same 200kb as GABRG2 +GABRA1|EJM5|ECA4|EIEE19 GABRA1|GABRA1|NA|NA GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5 None 137160 611136 5 in same 200kb as GABRG2 +GABRG2|GEFSP3|CAE2|ECA2 GABRG2|NA|NA|NA GABRG2 Epilepsy, childhood absence, susceptibility to, 2 Autosomal dominant 137164 607681 5 in alpha/beta/gamma cluster GABRG2|GEFSP3|CAE2|ECA2 GABRG2|NA|NA|NA GABRG2 Febrile seizures, familial, 8 Autosomal dominant 137164 611277 5 in alpha/beta/gamma cluster GABRG2|GEFSP3|CAE2|ECA2 GABRG2|NA|NA|NA GABRG2 Epilepsy, generalized, with febrile seizures plus, type 3 Autosomal dominant 137164 611277 5 in alpha/beta/gamma cluster -GABRG2|GEFSP3|CAE2|ECA2 GABRG2|NA|NA|NA GABRG2 Epilepsy, childhood absence, susceptibility to, 2 Autosomal dominant 137164 607681 5 in alpha/beta/gamma cluster HMMR HMMR HMMR Breast cancer, susceptibility to Autosomal dominant 600936 114480 5 NA WWC1|KIBRA|KIAA0869|MEMRYQTL WWC1|WWC1|WWC1|NA WWC1 Memory, enhanced, QTL None 610533 615602 5 NA RARS|HLD9 RARS|NA RARS Leukodystrophy, hypomyelinating, 9 Autosomal recessive 107820 616140 5 NA @@ -1949,20 +1972,20 @@ FOXI1|FKHL10|FREAC6 FOXI1|FOXI1|FOXI1 FOXI1 Enlarged vestibular aqueduct Autosom KCNMB1 KCNMB1 KCNMB1 Hypertension, diastolic, resistance to Autosomal dominant 603951 608622 5 NA NPM1 NPM1 NPM1 Leukemia, acute myeloid, somatic None 164040 601626 5 fused with RARA in APL SH3PXD2B|TKS4|KIAA1295|FTHS SH3PXD2B|NA|SH3PXD2B|NA SH3PXD2B Frank-ter Haar syndrome Autosomal recessive 613293 249420 5 NA +NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Tetralogy of Fallot Autosomal dominant 600584 187500 5 near border with 5q35 +NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Hypothyroidism, congenital nongoitrous, 5 Autosomal dominant 600584 225250 5 near border with 5q35 NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Hypoplastic left heart syndrome 2 Autosomal dominant 600584 614435 5 near border with 5q35 NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Conotruncal heart malformations, variable None 600584 217095 5 near border with 5q35 NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Atrial septal defect 7, with or without AV conduction defects Autosomal dominant 600584 108900 5 near border with 5q35 NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Ventricular septal defect 3 Autosomal dominant 600584 614432 5 near border with 5q35 -NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Tetrology of Fallot Autosomal dominant 600584 187500 5 near border with 5q35 -NKX2-5|NKX2E|CSX|CHNG5|VSD3|HLHS2 NKX2-5|NKX2-5|NKX2-5|NA|NA|NA NKX2-5 Hypothyroidism, congenital nongoitrous, 5 Autosomal dominant 600584 225250 5 near border with 5q35 +MSX2|CRS2|HOX8 MSX2|MSX2|MSX2 MSX2 Craniosynostosis, type 2 Autosomal dominant 123101 604757 5 NA MSX2|CRS2|HOX8 MSX2|MSX2|MSX2 MSX2 Parietal foramina with cleidocranial dysplasia Autosomal dominant 123101 168550 5 NA MSX2|CRS2|HOX8 MSX2|MSX2|MSX2 MSX2 Parietal foramina 1 Autosomal dominant 123101 168500 5 NA -MSX2|CRS2|HOX8 MSX2|MSX2|MSX2 MSX2 Craniosynostosis, type 2 Autosomal dominant 123101 604757 5 NA SNCB SNCB SNCB Dementia, Lewy body Autosomal dominant 602569 127750 5 NA FGFR4 FGFR4 FGFR4 Cancer progression/metastasis None 134935 NA 5 distal to DRD1 -NSD1|ARA267|STO|SOTOS1 NSD1|NSD1|NSD1|NA NSD1 Beckwith-Wiedemann syndrome Autosomal dominant 606681 130650 5 fusion gene with NUP98 in AML NSD1|ARA267|STO|SOTOS1 NSD1|NSD1|NSD1|NA NSD1 Sotos syndrome 1 Autosomal dominant 606681 117550 5 fusion gene with NUP98 in AML NSD1|ARA267|STO|SOTOS1 NSD1|NSD1|NSD1|NA NSD1 Leukemia, acute myeloid Autosomal dominant 606681 601626 5 fusion gene with NUP98 in AML +NSD1|ARA267|STO|SOTOS1 NSD1|NSD1|NSD1|NA NSD1 Beckwith-Wiedemann syndrome Autosomal dominant 606681 130650 5 fusion gene with NUP98 in AML SLC34A1|SLC17A2|NPT2|NPHLOP1|FRTS2|HCINF2 SLC34A1|SLC17A2,SLC34A1|SLC34A1|NA|NA|NA SLC34A1,SLC17A2 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 Autosomal dominant 182309 612286 5 NA SLC34A1|SLC17A2|NPT2|NPHLOP1|FRTS2|HCINF2 SLC34A1|SLC17A2,SLC34A1|SLC34A1|NA|NA|NA SLC34A1,SLC17A2 Hypercalcemia, infantile, 2 Autosomal recessive 182309 616963 5 NA SLC34A1|SLC17A2|NPT2|NPHLOP1|FRTS2|HCINF2 SLC34A1|SLC17A2,SLC34A1|SLC34A1|NA|NA|NA SLC34A1,SLC17A2 Fanconi renotubular syndrome 2 Autosomal recessive 182309 613388 5 NA @@ -1981,36 +2004,37 @@ SQSTM1|P62|PDB3|FTDALS3 SQSTM1|GTF2H1|SQSTM1|NA SQSTM1,GTF2H1 Frontotemporal dem FLT4|VEGFR3|PCL|LMPH1A FLT4|FLT4|FLT4,PKD2L1|NA FLT4,PKD2L1 Lymphedema, hereditary, IA Autosomal dominant 136352 153100 5 NA FLT4|VEGFR3|PCL|LMPH1A FLT4|FLT4|FLT4,PKD2L1|NA FLT4,PKD2L1 Hemangioma, capillary infantile, somatic None 136352 602089 5 NA IRF4|LSIRF|SHEP8 IRF4|IRF4|NA IRF4 Skin/hair/eye pigmentation, variation in, 8 None 601900 611724 6 disregulated in t(6;14) -FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Iridogoniodysgenesis, type 1 Autosomal dominant 601090 601631 6 NA -FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Axenfeld-Rieger syndrome, type 3 Autosomal dominant 601090 602482 6 NA FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Rieger or Axenfeld anomalies Autosomal dominant 601090 602482 6 NA FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Iris hypoplasia and glaucoma Autosomal dominant 601090 601631 6 NA -SERPINB6|PI6|PTI|SPI3|DFNB91 SERPINB6|SERPINB6|SERPINB6|NA|SERPINB6 SERPINB6 ?Deafness, autosomal recessive 91 None 173321 613453 6 mutation identified in 1 DFNB91 family +FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Iridogoniodysgenesis, type 1 Autosomal dominant 601090 601631 6 NA +FOXC1|FKHL7|FREAC3|IRID1|RIEG3 FOXC1|FOXC1|FOXC1|FOXC1|NA FOXC1 Axenfeld-Rieger syndrome, type 3 Autosomal dominant 601090 602482 6 NA +SERPINB6|PI6|PTI|SPI3|DFNB91 SERPINB6|SERPINB6|SERPINB6|NA|SERPINB6 SERPINB6 ?Deafness, autosomal recessive 91 Autosomal recessive 173321 613453 6 mutation identified in 1 DFNB91 family NQO2|NMOR2 NQO2|NQO2 NQO2 ?Breast cancer susceptibility Autosomal dominant 160998 114480 6 NA TUBB2A|CDCBM5 TUBB2A|NA TUBB2A Cortical dysplasia, complex, with other brain malformations 5 Autosomal dominant 615101 615763 6 NA TUBB2B|PMGYSA TUBB2B|NA TUBB2B Polymicrogyria, symmetric or asymmetric Autosomal dominant 612850 610031 6 TUBB2A is 70kb telomeric to TUBB2B LYRM4|ISD11|C6orf149|COXPD19 LYRM4|LYRM4|LYRM4|NA LYRM4 ?Combined oxidative phosphorylation deficiency 19 Autosomal recessive 613311 615595 6 mutation identified in 1 family -FARS2|FARS1|COXPD14 FARS2|FARS2|NA FARS2 Combined oxidative phosphorylation deficiency 14 Autosomal recessive 611592 614946 6 NA +FARS2|FARS1|COXPD14|SPG77 FARS2|FARS2|NA|NA FARS2 Combined oxidative phosphorylation deficiency 14 Autosomal recessive 611592 614946 6 mutation identified in 1 SPG77 family +FARS2|FARS1|COXPD14|SPG77 FARS2|FARS2|NA|NA FARS2 ?Spastic paraplegia 77, autosomal recessive Autosomal recessive 611592 617046 6 mutation identified in 1 SPG77 family F13A1|F13A F13A1|F13A1 F13A1 Venous thrombosis, protection against Autosomal dominant 134570 188050 6 NA F13A1|F13A F13A1|F13A1 F13A1 Myocardial infarction, protection against None 134570 608446 6 NA F13A1|F13A F13A1|F13A1 F13A1 Factor XIIIA deficiency Autosomal recessive 134570 613225 6 NA OFC1|CL OFC1|NA OFC1 Orofacial cleft-1 Autosomal dominant 119530 119530 6 probable heterogeneity +DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Epidermolysis bullosa, lethal acantholytic Autosomal recessive 125647 609638 6 splice variants result in DP I and DP II +DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis Autosomal dominant 125647 615821 6 splice variants result in DP I and DP II DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Cardiomyopathy, dilated, with woolly hair and keratoderma Autosomal recessive 125647 605676 6 splice variants result in DP I and DP II DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Arrhythmogenic right ventricular dysplasia 8 Autosomal dominant 125647 607450 6 splice variants result in DP I and DP II DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Skin fragility-woolly hair syndrome Autosomal recessive 125647 607655 6 splice variants result in DP I and DP II DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Keratosis palmoplantaris striata II None 125647 612908 6 splice variants result in DP I and DP II -DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Epidermolysis bullosa, lethal acantholytic Autosomal recessive 125647 609638 6 splice variants result in DP I and DP II -DSP|KPPS2|PPKS2|DCWHKTA DSP|DSP|DSP|NA DSP Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis Autosomal dominant 125647 615821 6 splice variants result in DP I and DP II TFAP2A|AP2TF|BOFS TFAP2A|TFAP2A|NA TFAP2A Branchiooculofacial syndrome Autosomal dominant 107580 113620 6 NA -GCNT2|Ii|CTRCT13 GCNT2|NA|NA GCNT2 Adult i phenotype without cataract Autosomal dominant 600429 110800 6 previously assigned to 9q21 GCNT2|Ii|CTRCT13 GCNT2|NA|NA GCNT2 Blood group, Ii Autosomal dominant 600429 110800 6 previously assigned to 9q21 GCNT2|Ii|CTRCT13 GCNT2|NA|NA GCNT2 Cataract 13 with adult i phenotype Autosomal recessive 600429 116700 6 previously assigned to 9q21 +GCNT2|Ii|CTRCT13 GCNT2|NA|NA GCNT2 Adult i phenotype without cataract Autosomal dominant 600429 110800 6 previously assigned to 9q21 MAK|RP62 ALPK3,MAK|MAK ALPK3,MAK Retinitis pigmentosa 62 Autosomal recessive 154235 614181 6 NA GCM2|GCMB GCM2|GCM2 GCM2 Hypoparathyroidism, familial isolated Autosomal dominant 603716 146200 6 NA DFNA21 DFNA21 DFNA21 Deafness, autosomal dominant 21 Autosomal dominant 607017 607017 6 previously mapped to 6p21.3 -EDN1|ARCND3|QME|HDLCQ7 EDN1|NA|NA|NA EDN1 Auriculocondylar syndrome 3 Autosomal recessive 131240 615706 6 NA EDN1|ARCND3|QME|HDLCQ7 EDN1|NA|NA|NA EDN1 High density lipoprotein cholesterol level QTL 7 None 131240 NA 6 NA EDN1|ARCND3|QME|HDLCQ7 EDN1|NA|NA|NA EDN1 Question mark ears, isolated Autosomal dominant 131240 612798 6 NA +EDN1|ARCND3|QME|HDLCQ7 EDN1|NA|NA|NA EDN1 Auriculocondylar syndrome 3 Autosomal recessive 131240 615706 6 NA TBC1D7|PIG51|TBC7|MGCPH TBC1D7|NA|NA|NA TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive Autosomal recessive 612655 248000 6 NA SCAR3|SCABD SCAR3,WASF3|NA SCAR3,WASF3 Spinocerebellar ataxia, autosomal recessive 3 Autosomal recessive 271250 271250 6 NA SCZD3 SCZD3 SCZD3 Schizophrenia Autosomal dominant 600511 181500 6 ?same as DTNBP1; cognitive deficit type @@ -2021,8 +2045,8 @@ NHLRC1|EPM2A|EPM2B NHLRC1|EPM2A|NHLRC1 NHLRC1,EPM2A Epilepsy, progressive myoclo TPMT|TPMTD TPMT|NA TPMT Thiopurines, poor metabolism of, 1 Autosomal recessive 187680 610460 6 NA DEK|D6S231E DEK|DEK DEK Leukemia, acute nonlymphocytic None 125264 125264 6 fused with CAN in t(6;9) CDKAL1 CDKAL1 CDKAL1 Diabetes mellitus, noninsulin-dependent, susceptibility to Autosomal dominant 611259 125853 6 NA -DCDC2|RU2|KIAA1154|NPHP19|DFNB66 DCDC2|DCDC2,KAAG1|DCDC2|NA|DFNB66 KAAG1,DFNB66,DCDC2 ?Deafness, autosomal recessive 66 Autosomal recessive 605755 610212 6 mutation identified in 1 DFNB66 family DCDC2|RU2|KIAA1154|NPHP19|DFNB66 DCDC2|DCDC2,KAAG1|DCDC2|NA|DFNB66 KAAG1,DFNB66,DCDC2 Nephronophthisis 19 Autosomal recessive 605755 616217 6 mutation identified in 1 DFNB66 family +DCDC2|RU2|KIAA1154|NPHP19|DFNB66 DCDC2|DCDC2,KAAG1|DCDC2|NA|DFNB66 KAAG1,DFNB66,DCDC2 ?Deafness, autosomal recessive 66 Autosomal recessive 605755 610212 6 mutation identified in 1 DFNB66 family ALDH5A1|SSADH ALDH5A1|ALDH5A1 ALDH5A1 Succinic semialdehyde dehydrogenase deficiency Autosomal recessive 610045 271980 6 NA KIAA0319|DYX2|DYLX2|DLX2 KIAA0319|DYX2|NA|DLX2 DYX2,DLX2,KIAA0319 Dyslexia, susceptibility to, 2 Autosomal dominant 609269 600202 6 NA TDP2|TTRAP TDP2|TDP2 TDP2 Spinocerebellar ataxia, autosomal recessive 23 Autosomal recessive 605764 616949 6 NA @@ -2030,12 +2054,12 @@ GMNN|MGORS6 GMNN|NA GMNN Meier-Gorlin syndrome 6 None 602842 616835 6 NA FAM65B|C6orf32|KIAA0386|PL48|DFNB104 FAM65B|FAM65B|FAM65B|NA|NA FAM65B ?Deafness, autosomal recessive 104 Autosomal recessive 611410 616515 6 mutation identified in 1 DFNB104 family SLC17A3|NPT4|UAQTL4|GOUT4 SLC17A3|SLC17A3|NA|NA SLC17A3 Gout susceptibility 4 Autosomal dominant 611034 612671 6 NA SLC17A3|NPT4|UAQTL4|GOUT4 SLC17A3|SLC17A3|NA|NA SLC17A3 Uric acid concentration, serum, QTL4 Autosomal dominant 611034 612671 6 NA +HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Porphyria cutanea tarda, susceptibility to Autosomal dominant 613609 176100 6 NA +HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Microvascular complications of diabetes 7 None 613609 612635 6 NA HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Alzheimer disease, susceptibility to Autosomal dominant 613609 104300 6 NA HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Transferrin serum level QTL2 None 613609 614193 6 NA HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Hemochromatosis Autosomal recessive 613609 235200 6 NA HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Porphyria variegata, susceptibility to Autosomal dominant 613609 176200 6 NA -HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Porphyria cutanea tarda, susceptibility to Autosomal dominant 613609 176100 6 NA -HFE|HLA-H|HFE1|MVCD7|TFQTL2 HFE|HFE,HLA-H|NA|NA|NA HLA-H,HFE Microvascular complications of diabetes 7 None 613609 612635 6 NA OR2J3|C3HEXS OR2J3|NA OR2J3 C3HEX, ability to smell Autosomal dominant 615016 615082 6 NA MOG|NRCLP7 MOG|NA MOG ?Narcolepsy 7 Autosomal dominant 159465 614250 6 60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family ZFP57|TNDM1 ZFP57|NA ZFP57 Diabetes mellitus, transient neonatal, 1 None 612192 601410 6 NA @@ -2047,64 +2071,64 @@ IDDM1 HLA-DQB1,INS HLA-DQB1,INS Diabetes mellitus, insulin-dependent-1 Autosomal IGAD1 IGAD1 IGAD1 Immunoglobulin A deficiency Autosomal dominant; Autosomal recessive; Isolated cases 137100 137100 6 NA LAP CEBPB,CENPJ,LAP3 CEBPB,LAP3,CENPJ ?Laryngeal adductor paralysis Autosomal dominant 150270 150270 6 ?linkage to HLA and GLO1 PBLT DPCR1 DPCR1 Panbronchiolitis, diffuse Multifactorial 604809 604809 6 NA -TUBB|TUBB5|M40|CDCBM6|CSCSC1 TUBB,TUBB2A|NA|TUBB|NA|NA TUBB2A,TUBB Cortical dysplasia, complex, with other brain malformations 6 Autosomal dominant 191130 615771 6 NA TUBB|TUBB5|M40|CDCBM6|CSCSC1 TUBB,TUBB2A|NA|TUBB|NA|NA TUBB2A,TUBB Symmetric circumferential skin creases, congenital, 1 Autosomal dominant 191130 156610 6 NA +TUBB|TUBB5|M40|CDCBM6|CSCSC1 TUBB,TUBB2A|NA|TUBB|NA|NA TUBB2A,TUBB Cortical dysplasia, complex, with other brain malformations 6 Autosomal dominant 191130 615771 6 NA VARS2|KIAA1885|COXPD20 VARS,VARS2|VARS2|NA VARS2,VARS Combined oxidative phosphorylation deficiency 20 Autosomal recessive 612802 615917 6 NA -CDSN|HTSS1|HYPT2|PSS1 CDSN|NA|NA|PTDSS1 PTDSS1,CDSN Hypotrichosis 2 Autosomal dominant 602593 146520 6 NA CDSN|HTSS1|HYPT2|PSS1 CDSN|NA|NA|PTDSS1 PTDSS1,CDSN Peeling skin syndrome 1 Autosomal recessive 602593 270300 6 NA -HLA-C|PSORS1 HLA-C|HLA-C HLA-C HIV-1 viremia, susceptibility to None 142840 609423 6 NA +CDSN|HTSS1|HYPT2|PSS1 CDSN|NA|NA|PTDSS1 PTDSS1,CDSN Hypotrichosis 2 Autosomal dominant 602593 146520 6 NA HLA-C|PSORS1 HLA-C|HLA-C HLA-C Psoriasis susceptibility 1 Multifactorial 142840 177900 6 NA +HLA-C|PSORS1 HLA-C|HLA-C HLA-C HIV-1 viremia, susceptibility to None 142840 609423 6 NA +HLA-B|SPDA1 HLA-B|NA HLA-B Stevens-Johnson syndrome, susceptibility to None 142830 608579 6 NA +HLA-B|SPDA1 HLA-B|NA HLA-B Spondyloarthropathy, susceptibility to, 1 Multifactorial 142830 106300 6 NA HLA-B|SPDA1 HLA-B|NA HLA-B Drug-induced liver injury due to flucloxacillin None 142830 NA 6 NA HLA-B|SPDA1 HLA-B|NA HLA-B Abacavir hypersensitivity, susceptibility to None 142830 NA 6 NA HLA-B|SPDA1 HLA-B|NA HLA-B Toxic epidermal necrolysis, susceptibility to None 142830 608579 6 NA HLA-B|SPDA1 HLA-B|NA HLA-B Synovitis, chronic, susceptibility to None 142830 NA 6 NA -HLA-B|SPDA1 HLA-B|NA HLA-B Stevens-Johnson syndrome, susceptibility to None 142830 608579 6 NA -HLA-B|SPDA1 HLA-B|NA HLA-B Spondyloarthropathy, susceptibility to, 1 Multifactorial 142830 106300 6 NA NFKBIL1 NFKBIL1 NFKBIL1 Rheumatoid arthritis, susceptibility to None 601022 180300 6 NA LTA|TNFB LTA|LTA LTA Psoriatic arthritis, susceptibility to None 153440 607507 6 cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B LTA|TNFB LTA|LTA LTA Myocardial infarction, susceptibility to None 153440 608446 6 cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B LTA|TNFB LTA|LTA LTA Leprosy, susceptibility to, 4 None 153440 610988 6 cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B +TNF|TNFA TNF|TNF TNF Asthma, susceptibility to Autosomal dominant 191160 600807 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B +TNF|TNFA TNF|TNF TNF Septic shock, susceptibility to None 191160 NA 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B TNF|TNFA TNF|TNF TNF Migraine without aura, susceptibility to Autosomal dominant 191160 157300 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B TNF|TNFA TNF|TNF TNF Malaria, cerebral, susceptibility to None 191160 611162 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B TNF|TNFA TNF|TNF TNF Dementia, vascular, susceptibility to None 191160 NA 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B -TNF|TNFA TNF|TNF TNF Asthma, susceptibility to Autosomal dominant 191160 600807 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B -TNF|TNFA TNF|TNF TNF Septic shock, susceptibility to None 191160 NA 6 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B NCR3|1C7|NKP30|CD337|MALS NCR3|NCR3|NA|NCR3|NA NCR3 Malaria, mild, susceptibility to None 611550 609148 6 NA NEU1|NEU|SIAL1 NEU1|ERBB2,NEU1|NA ERBB2,NEU1 Sialidosis, type II Autosomal recessive 608272 256550 6 NA NEU1|NEU|SIAL1 NEU1|ERBB2,NEU1|NA ERBB2,NEU1 Sialidosis, type I Autosomal recessive 608272 256550 6 NA C2|ARMD14 C2|NA C2 Macular degeneration, age-related, 14, reduced risk of None 613927 615489 6 no crossover with BF C2|ARMD14 C2|NA C2 C2 deficiency Autosomal recessive 613927 217000 6 no crossover with BF -CFB|BF|GBG|AHUS4|ARMD14|CFBD CFB|CFB|NA|NA|NA|NA CFB ?Complement factor B deficiency None 138470 615561 6 mutation identified in 1 CFBD family CFB|BF|GBG|AHUS4|ARMD14|CFBD CFB|CFB|NA|NA|NA|NA CFB Macular degeneration, age-related, 14, reduced risk of None 138470 615489 6 mutation identified in 1 CFBD family CFB|BF|GBG|AHUS4|ARMD14|CFBD CFB|CFB|NA|NA|NA|NA CFB Hemolytic uremic syndrome, atypical, susceptibility to, 4 Autosomal dominant 138470 612924 6 mutation identified in 1 CFBD family +CFB|BF|GBG|AHUS4|ARMD14|CFBD CFB|CFB|NA|NA|NA|NA CFB ?Complement factor B deficiency None 138470 615561 6 mutation identified in 1 CFBD family SKIV2L|SKI2|SKI2W|THES2 SKIV2L|NA|SKIV2L|NA SKIV2L Trichohepatoenteric syndrome 2 Autosomal recessive 600478 614602 6 NA -C4A|C4S|C4AD C4A|C4A|NA C4A Blood group, Rodgers None 120810 614374 6 order: HLA-B, C2, BF, C4A, C4B, CYP21, DR C4A|C4S|C4AD C4A|C4A|NA C4A C4a deficiency Autosomal recessive 120810 614380 6 order: HLA-B, C2, BF, C4A, C4B, CYP21, DR +C4A|C4S|C4AD C4A|C4A|NA C4A Blood group, Rodgers None 120810 614374 6 order: HLA-B, C2, BF, C4A, C4B, CYP21, DR C4B|C4F|C4BD C4A,C4B|C4B|NA C4A,C4B C4B deficiency None 120820 614379 6 10kb from C4S CYP21A2|CYP21|CA21H CYP21A2|CYP21A2|CYP21A2 CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Autosomal recessive 613815 201910 6 linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p CYP21A2|CYP21|CA21H CYP21A2|CYP21A2|CYP21A2 CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Autosomal recessive 613815 201910 6 linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p -TNXB|TNX|TNXB1|TNXBS|TNXB2|EDS3|VUR8 TNXB|TNXA|TNXB|TNXB|TNXB|NA|NA TNXB,TNXA Ehlers-Danlos syndrome due to tenascin X deficiency Autosomal recessive 600985 606408 6 NA TNXB|TNX|TNXB1|TNXBS|TNXB2|EDS3|VUR8 TNXB|TNXA|TNXB|TNXB|TNXB|NA|NA TNXB,TNXA Vesicoureteral reflux 8 Autosomal dominant 600985 615963 6 NA +TNXB|TNX|TNXB1|TNXBS|TNXB2|EDS3|VUR8 TNXB|TNXA|TNXB|TNXB|TNXB|NA|NA TNXB,TNXA Ehlers-Danlos syndrome due to tenascin X deficiency Autosomal recessive 600985 606408 6 NA BTNL2|SS2 BTNL2|NA BTNL2 Sarcoidosis, susceptibility to, 2 None 606000 612387 6 NA HLA-DRB1|SS1 HLA-DRB1|NA HLA-DRB1 Sarcoidosis, susceptibility to, 1 Isolated cases 142857 181000 6 NA HLA-DRB1|SS1 HLA-DRB1|NA HLA-DRB1 Rheumatoid arthritis, susceptibility to None 142857 180300 6 NA HLA-DRB1|SS1 HLA-DRB1|NA HLA-DRB1 Pemphigoid, susceptibility to None 142857 142857 6 NA HLA-DRB1|SS1 HLA-DRB1|NA HLA-DRB1 Multiple sclerosis, susceptibility to, 1 Multifactorial 142857 126200 6 NA HLA-DQA1|CELIAC1 HLA-DQA1|HLA-DQA1,HLA-DQB1 HLA-DQB1,HLA-DQA1 Celiac disease, susceptibility to Autosomal recessive; Multifactorial 146880 212750 6 NA +HLA-DQB1|CELIAC1 HLA-DQB1|HLA-DQA1,HLA-DQB1 HLA-DQB1,HLA-DQA1 Celiac disease, susceptibility to Autosomal recessive; Multifactorial 604305 212750 6 NA HLA-DQB1|CELIAC1 HLA-DQB1|HLA-DQA1,HLA-DQB1 HLA-DQB1,HLA-DQA1 Multiple sclerosis, susceptibility to, 1 Multifactorial 604305 126200 6 NA HLA-DQB1|CELIAC1 HLA-DQB1|HLA-DQA1,HLA-DQB1 HLA-DQB1,HLA-DQA1 Creutzfeldt-Jakob disease, variant, resistance to Autosomal dominant 604305 123400 6 NA -HLA-DQB1|CELIAC1 HLA-DQB1|HLA-DQA1,HLA-DQB1 HLA-DQB1,HLA-DQA1 Celiac disease, susceptibility to Autosomal recessive; Multifactorial 604305 212750 6 NA -TAP2|ABCB3|PSF2|RING11 SEC14L3,TAP2|TAP2|GINS2,TAP2|TAP2 SEC14L3,GINS2,TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency Autosomal recessive 170261 604571 6 tel-TAP1-LMP2-LMP1-TAP2-cen TAP2|ABCB3|PSF2|RING11 SEC14L3,TAP2|TAP2|GINS2,TAP2|TAP2 SEC14L3,GINS2,TAP2 Wegener-like granulomatosis None 170261 NA 6 tel-TAP1-LMP2-LMP1-TAP2-cen +TAP2|ABCB3|PSF2|RING11 SEC14L3,TAP2|TAP2|GINS2,TAP2|TAP2 SEC14L3,GINS2,TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency Autosomal recessive 170261 604571 6 tel-TAP1-LMP2-LMP1-TAP2-cen PSMB8|LMP7|RING10|JMP|NKJO|ALDD PSMB8|PSMB8|PSMB8|NA|NA|NA PSMB8 Autoinflammation, lipodystrophy, and dermatosis syndrome Autosomal recessive 177046 256040 6 between TAP1 and TAP2 TAP1|ABCB2|TAP1|RING4|PSF1 TAP1|TAP1|TAP1|TAP1|GINS1,TAP1 TAP1,GINS1 Bare lymphocyte syndrome, type I Autosomal recessive 170260 604571 6 ~7kb telomeric to TAP2 HLA-DPB1 HLA-DPB1 HLA-DPB1 Beryllium disease, chronic, susceptibility to None 142858 NA 6 NA -COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Stickler syndrome, type III Autosomal dominant 120290 184840 6 45kb centromeric of HLA-DPB2; 3'--5'-cen -COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Otospondylomegaepiphyseal dysplasia Autosomal recessive 120290 215150 6 45kb centromeric of HLA-DPB2; 3'--5'-cen -COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Fibrochondrogenesis 2 Autosomal dominant; Autosomal recessive 120290 614524 6 45kb centromeric of HLA-DPB2; 3'--5'-cen COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Deafness, autosomal recessive 53 Autosomal recessive 120290 609706 6 45kb centromeric of HLA-DPB2; 3'--5'-cen COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Deafness, autosomal dominant 13 Autosomal dominant 120290 601868 6 45kb centromeric of HLA-DPB2; 3'--5'-cen COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Weissenbacher-Zweymuller syndrome Autosomal dominant 120290 277610 6 45kb centromeric of HLA-DPB2; 3'--5'-cen +COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Stickler syndrome, type III Autosomal dominant 120290 184840 6 45kb centromeric of HLA-DPB2; 3'--5'-cen +COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Otospondylomegaepiphyseal dysplasia Autosomal recessive 120290 215150 6 45kb centromeric of HLA-DPB2; 3'--5'-cen +COL11A2|STL3|DFNA13|DFNB53|FBCG2 COL11A2|NA|COL11A2|COL11A2|NA COL11A2 Fibrochondrogenesis 2 Autosomal dominant; Autosomal recessive 120290 614524 6 45kb centromeric of HLA-DPB2; 3'--5'-cen TAPBP|TPSN TAPBP|NA TAPBP Bare lymphocyte syndrome, type I Autosomal recessive 601962 604571 6 NA SYNGAP1|MRD5 SYNGAP1|NA SYNGAP1 Mental retardation, autosomal dominant 5 Autosomal dominant 603384 612621 6 NA ITPR3 ITPR3 ITPR3 Diabetes, type 1, susceptibility to Autosomal recessive 147267 222100 6 NA @@ -2125,46 +2149,46 @@ TREM2 TREM2 TREM2 Nasu-Hakola disease Autosomal recessive 605086 221770 6 NA GUCA1A|GCAP|COD3|CORD14 GUCA1A|GUCA1A|GUCA1A|GUCA1A GUCA1A Cone-rod dystrophy 14 Autosomal dominant 600364 602093 6 NA GUCA1A|GCAP|COD3|CORD14 GUCA1A|GUCA1A|GUCA1A|GUCA1A GUCA1A Cone dystrophy-3 Autosomal dominant 600364 602093 6 NA GUCA1B|GCAP2|GUCA2|RP48 GUCA1B|GUCA1B|GUCA2A|GUCA1B GUCA2A,GUCA1B Retinitis pigmentosa 48 None 602275 613827 6 NA -PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Macular dystrophy, patterned, 1 Autosomal dominant 179605 169150 6 digenic RP with ROM1 -PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Leber congenital amaurosis 18 Autosomal dominant; Autosomal recessive 179605 608133 6 digenic RP with ROM1 PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Choriodal dystrophy, central areolar 2 Autosomal dominant 179605 613105 6 digenic RP with ROM1 PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Retinitis punctata albescens Autosomal dominant; Autosomal recessive 179605 136880 6 digenic RP with ROM1 PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Retinitis pigmentosa 7 and digenic Autosomal dominant; Autosomal recessive 179605 608133 6 digenic RP with ROM1 PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Macular dystrophy, vitelliform, 3 Autosomal dominant 179605 608161 6 digenic RP with ROM1 +PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Macular dystrophy, patterned, 1 Autosomal dominant 179605 169150 6 digenic RP with ROM1 +PRPH2|DS|RP7|PRPH|AVMD|AOFMD|CACD2|MDBS1 PRPH2|DHDDS|PRPH2|PRPH|NA|NA|PRPH2|NA PRPH2,DHDDS,PRPH Leber congenital amaurosis 18 Autosomal dominant; Autosomal recessive 179605 608133 6 digenic RP with ROM1 GNMT GNMT GNMT Glycine N-methyltransferase deficiency Autosomal recessive 606628 606664 6 NA -PEX6|PXAAA1|PAF2|PBD4A|PDB4B|HMLR2 PEX6|PEX6|NA|NA|NA|NA PEX6 Heimler syndrome 2 Autosomal recessive 601498 616617 6 NA PEX6|PXAAA1|PAF2|PBD4A|PDB4B|HMLR2 PEX6|PEX6|NA|NA|NA|NA PEX6 Peroxisome biogenesis disorder 4B None 601498 614863 6 NA PEX6|PXAAA1|PAF2|PBD4A|PDB4B|HMLR2 PEX6|PEX6|NA|NA|NA|NA PEX6 Peroxisome biogenesis disorder 4A (Zellweger) None 601498 614862 6 NA +PEX6|PXAAA1|PAF2|PBD4A|PDB4B|HMLR2 PEX6|PEX6|NA|NA|NA|NA PEX6 Heimler syndrome 2 Autosomal recessive 601498 616617 6 NA PPP2R5D|MRD35 PPP2R5D|NA PPP2R5D Mental retardation, autosomal dominant 35 Autosomal dominant 601646 616355 6 NA CUL7|3M1 CUL7|NA CUL7 3-M syndrome 1 Autosomal recessive 609577 273750 6 NA -POLR1C|RPA39|RPA40|RPAC1|RPA5|TCS3|HLD11 POLR1C|POLR1C|POLR1C|POLR1C|POLR1C|NA|NA POLR1C Treacher Collins syndrome 3 Autosomal recessive 610060 248390 6 NA POLR1C|RPA39|RPA40|RPAC1|RPA5|TCS3|HLD11 POLR1C|POLR1C|POLR1C|POLR1C|POLR1C|NA|NA POLR1C Leukodystrophy, hypomyelinating, 11 Autosomal recessive 610060 616494 6 NA +POLR1C|RPA39|RPA40|RPAC1|RPA5|TCS3|HLD11 POLR1C|POLR1C|POLR1C|POLR1C|POLR1C|NA|NA POLR1C Treacher Collins syndrome 3 Autosomal recessive 610060 248390 6 NA POLH|XPV POLH,POLQ|NA POLQ,POLH Xeroderma pigmentosum, variant type Autosomal recessive 603968 278750 6 NA RSPH9|CILD12 RSPH9|RSPH9 RSPH9 Ciliary dyskinesia, primary, 12 None 612648 612650 6 NA VEGF|MVCD1 VEGFA|NA VEGFA Microvascular complications of diabetes 1 None 192240 603933 6 NA AARS2|KIAA1270|MTALARS|COXPD8|LKENP AARS2|AARS2|NA|NA|NA AARS2 Leukoencephalopathy, progressive, with ovarian failure Autosomal recessive 612035 615889 6 NA AARS2|KIAA1270|MTALARS|COXPD8|LKENP AARS2|AARS2|NA|NA|NA AARS2 Combined oxidative phosphorylation deficiency 8 Autosomal recessive 612035 614096 6 NA -RUNX2|CBFA1|PEBP2A1|AML3|CCD|CLCD RUNX2|RUNX2|RUNX2|RUNX2|RUNX2|NA RUNX2 Cleidocranial dysplasia Autosomal dominant 600211 119600 6 NA RUNX2|CBFA1|PEBP2A1|AML3|CCD|CLCD RUNX2|RUNX2|RUNX2|RUNX2|RUNX2|NA RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Autosomal dominant 600211 156510 6 NA RUNX2|CBFA1|PEBP2A1|AML3|CCD|CLCD RUNX2|RUNX2|RUNX2|RUNX2|RUNX2|NA RUNX2 Cleidocranial dysplasia, forme fruste, with brachydactyly Autosomal dominant 600211 119600 6 NA RUNX2|CBFA1|PEBP2A1|AML3|CCD|CLCD RUNX2|RUNX2|RUNX2|RUNX2|RUNX2|NA RUNX2 Cleidocranial dysplasia, forme fruste, dental anomalies only Autosomal dominant 600211 119600 6 NA +RUNX2|CBFA1|PEBP2A1|AML3|CCD|CLCD RUNX2|RUNX2|RUNX2|RUNX2|RUNX2|NA RUNX2 Cleidocranial dysplasia Autosomal dominant 600211 119600 6 NA CLIC5|DFNB103 CLIC5,CLIC6|NA CLIC6,CLIC5 ?Deafness, autosomal recessive 103 Autosomal recessive 607293 616042 6 mutation identified in 1 DFNB103 family NYS2|NYSA NYS2|NYS2 NYS2 Nystagmus 2, congenital, autosomal dominant Autosomal dominant 164100 164100 6 NA +PLA2G7|PAFAH|PAFAD PLA2G7|PAFAH1B1,PLA2G7|NA PLA2G7,PAFAH1B1 Platelet-activating factor acetylhydrolase deficiency None 601690 614278 6 NA PLA2G7|PAFAH|PAFAD PLA2G7|PAFAH1B1,PLA2G7|NA PLA2G7,PAFAH1B1 Atopy, susceptibility to Autosomal dominant 601690 147050 6 NA PLA2G7|PAFAH|PAFAD PLA2G7|PAFAH1B1,PLA2G7|NA PLA2G7,PAFAH1B1 Asthma, susceptibility to Autosomal dominant 601690 600807 6 NA -PLA2G7|PAFAH|PAFAD PLA2G7|PAFAH1B1,PLA2G7|NA PLA2G7,PAFAH1B1 Platelet-activating factor acetylhydrolase deficiency None 601690 614278 6 NA CD2AP|CMS CD2AP|CD2AP CD2AP Glomerulosclerosis, focal segmental, 3 None 604241 607832 6 NA MUT|MCM MUT|NA MUT Methylmalonic aciduria, mut(0) type Autosomal recessive 609058 251000 6 NA RHAG|RH50A|OHST RHAG|RHAG|NA RHAG Rh-mod syndrome None 180297 NA 6 NA RHAG|RH50A|OHST RHAG|RHAG|NA RHAG Overhydrated hereditary stomatocytosis Autosomal dominant 180297 185000 6 NA RHAG|RH50A|OHST RHAG|RHAG|NA RHAG Anemia, hemolytic, Rh-null, regulator type Autosomal recessive 180297 268150 6 NA -TFAP2B|CHAR|PDA2 TFAP2B|NA|PDIA2 TFAP2B,PDIA2 Patent ductus arteriosus 2 None 601601 617035 6 NA +TFAP2B|CHAR|PDA2 TFAP2B|NA|PDIA2 TFAP2B,PDIA2 Patent ductus arteriosus 2 Autosomal dominant 601601 617035 6 NA TFAP2B|CHAR|PDA2 TFAP2B|NA|PDIA2 TFAP2B,PDIA2 Char syndrome Autosomal dominant 601601 169100 6 NA FCYT|PKHD1|ARPKD PKHD1|PKHD1|PKHD1 PKHD1 Polycystic kidney and hepatic disease Autosomal recessive 606702 263200 6 NA -MRT24 MRT24 MRT24 Mental retardation, autosomal recessive 24 None 614345 614345 6 between rs651733 and rs1508668 +MRT24 MRT24 MRT24 Mental retardation, autosomal recessive 24 Autosomal recessive 614345 614345 6 between rs651733 and rs1508668 IL17F|ML1|CANDF6 IL17F|IL17F|NA IL17F ?Candidiasis, familial, 6, autosomal dominant None 606496 613956 6 mutation identified in 1 CANDF6 family -EFHC1|FLJ10466|EJM1|JAE|EJA1 EFHC1|EFHC1|EFHC1|NA|NA EFHC1 Myoclonic epilepsy, juvenile, susceptibility to, 1 Autosomal dominant 608815 254770 6 NA EFHC1|FLJ10466|EJM1|JAE|EJA1 EFHC1|EFHC1|EFHC1|NA|NA EFHC1 Epilepsy, juvenile absence, susceptibility to, 1 Autosomal dominant 608815 607631 6 NA +EFHC1|FLJ10466|EJM1|JAE|EJA1 EFHC1|EFHC1|EFHC1|NA|NA EFHC1 Myoclonic epilepsy, juvenile, susceptibility to, 1 Autosomal dominant 608815 254770 6 NA ICK|MRK|KIAA0936|ECO ICK|ICK|ICK|NA ICK Endocrine-cerebroosteodysplasia Autosomal recessive 612325 612651 6 NA ELOVL5|HELO1|SCA38 ELOVL5|ELOVL5|ELOVL5 ELOVL5 Spinocerebellar ataxia 38 Autosomal dominant 611805 615957 6 NA GCLC|GLCLC GCLC|GCLC GCLC Myocardial infarction, susceptibility to None 606857 608446 6 NA @@ -2184,17 +2208,17 @@ KHDC3L|C6orf221|ECAT1|HYDM2 KHDC3L|KHDC3L|KHDC3L|NA KHDC3L Hydatidiform mole, re MTO1|COXPD10 MTO1|NA MTO1 Combined oxidative phosphorylation deficiency 10 Autosomal recessive 614667 614702 6 NA SLC17A5|SIASD|SLD SLC17A5|SLC17A5|SLC17A5 SLC17A5 Sialic acid storage disorder, infantile Autosomal recessive 604322 269920 6 NA SLC17A5|SIASD|SLD SLC17A5|SLC17A5|SLC17A5 SLC17A5 Salla disease Autosomal recessive 604322 604369 6 NA -COL12A1|UCMD2|BTHLM2 COL12A1|NA|NA COL12A1 ?Ullrich congenital muscular dystrophy 2 None 120320 616470 6 mutation identified in 1 UCMD2 family COL12A1|UCMD2|BTHLM2 COL12A1|NA|NA COL12A1 Bethlem myopathy 2 None 120320 616471 6 mutation identified in 1 UCMD2 family +COL12A1|UCMD2|BTHLM2 COL12A1|NA|NA COL12A1 ?Ullrich congenital muscular dystrophy 2 None 120320 616470 6 mutation identified in 1 UCMD2 family PBCRA|CRAPB PBCRA1|PBCRA1 PBCRA1 Chorioretinal atrophy, progressive bifocal Autosomal dominant 600790 600790 6 NA MYO6|DFNA22|DFNB37 MYO6|MYO6|MYO6 MYO6 Deafness, autosomal recessive 37 Autosomal recessive 600970 607821 6 NA MYO6|DFNA22|DFNB37 MYO6|MYO6|MYO6 MYO6 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Autosomal dominant 600970 606346 6 NA MYO6|DFNA22|DFNB37 MYO6|MYO6|MYO6 MYO6 Deafness, autosomal dominant 22 Autosomal dominant 600970 606346 6 NA IMPG1|IPM150|VMD4 IMPG1|IMPG1|NA IMPG1 Macular dystrophy, vitelliform, 4 Autosomal dominant 602870 616151 6 NA LCA5|C6orf152 LCA5|LCA5 LCA5 Leber congenital amaurosis 5 None 611408 604537 6 NA -ELOVL4|ADMD|STGD2|STGD3|ISQMR|SCA34 ELOVL4|NA|ELOVL4|ELOVL4|NA|NA ELOVL4 Stargardt disease 3 Autosomal dominant 605512 600110 6 mutation identified in 1 SCA34 family ELOVL4|ADMD|STGD2|STGD3|ISQMR|SCA34 ELOVL4|NA|ELOVL4|ELOVL4|NA|NA ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation Autosomal recessive 605512 614457 6 mutation identified in 1 SCA34 family ELOVL4|ADMD|STGD2|STGD3|ISQMR|SCA34 ELOVL4|NA|ELOVL4|ELOVL4|NA|NA ELOVL4 ?Spinocerebellar ataxia 34 Autosomal dominant 605512 133190 6 mutation identified in 1 SCA34 family +ELOVL4|ADMD|STGD2|STGD3|ISQMR|SCA34 ELOVL4|NA|ELOVL4|ELOVL4|NA|NA ELOVL4 Stargardt disease 3 Autosomal dominant 605512 600110 6 mutation identified in 1 SCA34 family BCKDHB|E1B BCKDHB|NA BCKDHB Maple syrup urine disease, type Ib Autosomal recessive 248611 248600 6 NA PGM3|AGM1|IMD23 PGM3|PGM3|NA PGM3 Immunodeficiency 23 Autosomal recessive 172100 615816 6 NA RIPPLY2|C6orf59|SCDO6 RIPPLY2|AGPAT4-IT1|NA AGPAT4-IT1,RIPPLY2 ?Spondylocostal dysostosis 6 Autosomal recessive 609891 616566 6 mutation identified in 1 SCDO6 family @@ -2204,7 +2228,7 @@ NT5E|NT5 NT5E|NT5E NT5E Calcification of joints and arteries Autosomal recessive SNX14|SCAR20 SNX14|NA SNX14 Spinocerebellar ataxia, autosomal recessive 20 Autosomal recessive 616105 616354 6 NA SLC35A1|CST|CDG2F SLC35A1|GAL3ST1|NA GAL3ST1,SLC35A1 Congenital disorder of glycosylation, type IIf Autosomal recessive 605634 603585 6 NA RARS2|RARSL|PCH6 RARS2|RARS2|NA RARS2 Pontocerebellar hypoplasia, type 6 Autosomal recessive 611524 611523 6 NA -NDUFAF4|HRPAP20|C6orf66 NDUFAF4|NDUFAF4|NDUFAF4 NDUFAF4 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 611776 252010 6 NA +NDUFAF4|HRPAP20|C6orf66 NDUFAF4|NDUFAF4|NDUFAF4 NDUFAF4 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 611776 252010 6 NA FBXL4|FBL4|MTDPS13 FBXL4|FBXL4,FBXL5|NA FBXL5,FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Autosomal recessive 605654 615471 6 NA DHS6S1|MCDR1 NA|MCDR1 MCDR1 Macular dystrophy, North Carolina type Autosomal dominant 616842 136550 6 upstream of PRDM13 and CCNC SIM1 SIM1 SIM1 Obesity, severe Autosomal dominant; Autosomal recessive; Multifactorial 603128 601665 6 NA @@ -2215,18 +2239,18 @@ BVES|HBVES|POPDC1|LGMD2X BVES|BVES|BVES|NA BVES ?Muscular dystrophy, limb-girdle RTN4IP1|NIMP|OPA10 RTN4IP1|RTN4IP1|NA RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures Autosomal recessive 610502 616732 6 NA PDSS2|DLP1|C6orf210|COQ10D3 PDSS2|NA|PDSS2|NA PDSS2 Coenzyme Q10 deficiency, primary, 3 Autosomal recessive 610564 614652 6 NA SOBP|JXC1|MRAMS SOBP|NA|NA SOBP Mental retardation, anterior maxillary protrusion, and strabismus Autosomal recessive 613667 613671 6 NA -SEC63 SEC63 SEC63 Polycystic liver disease Autosomal dominant 608648 174050 6 NA +SEC63|PCLD2 SEC63|NA SEC63 Polycystic liver disease 2 Autosomal dominant 608648 617004 6 NA OSTM1|GL|OPTB5 OSTM1|OSTM1,PPP1R3B|NA OSTM1,PPP1R3B Osteopetrosis, autosomal recessive 5 Autosomal recessive 607649 259720 6 NA CD164|DFNA66 CD164|NA CD164 ?Deafness, autosomal dominant 66 Autosomal dominant 603356 616969 6 mutation identified in 1 DFNA66 family ZBTB24|PATZ2|ZNF450|KIAA0441|ICF2 ZBTB24|ZBTB24|ZBTB24|ZBTB24|NA ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 Autosomal recessive 614064 614069 6 NA +FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP Charcot-Marie-Tooth disease, type 4J Autosomal recessive 609390 611228 6 mutation identified in 1 BTOP family +FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP Amyotrophic lateral sclerosis 11 Autosomal dominant 609390 612577 6 mutation identified in 1 BTOP family FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP ?Polymicrogyria, bilateral temporooccipital Autosomal recessive 609390 612691 6 mutation identified in 1 BTOP family FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP Yunis-Varon syndrome Autosomal recessive 609390 216340 6 mutation identified in 1 BTOP family -FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP Charcot-Marie-Tooth disease, type 4J Autosomal recessive 609390 611228 6 mutation identified in 1 BTOP family -FIG4|KIAA0274|SAC3|ALS11|YVS|BTOP FIG4|FIG4|FIG4,MCM3AP|FIG4|NA|NA FIG4,MCM3AP Amyotrophic lateral sclerosis 11 None 609390 612577 6 mutation identified in 1 BTOP family TRAF3IP2|C6orf5|ACT1|CIKS|C6orf4|C6orf6|PSORS13|CANDF8 TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|NA|NA TRAF3IP2 Psoriasis susceptibility 13 None 607043 614070 6 mutation identified in 1 family with CANDF8 TRAF3IP2|C6orf5|ACT1|CIKS|C6orf4|C6orf6|PSORS13|CANDF8 TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|TRAF3IP2|NA|NA TRAF3IP2 ?Candidiasis, familial, 8 Autosomal recessive 607043 615527 6 mutation identified in 1 family with CANDF8 -WISP3|PPAC|PPD WISP3|NA|HPD,VSX1 WISP3,VSX1,HPD Arthropathy, progressive pseudorheumatoid, of childhood Autosomal recessive 603400 208230 6 NA WISP3|PPAC|PPD WISP3|NA|HPD,VSX1 WISP3,VSX1,HPD Spondyloepiphyseal dysplasia tarda with progressive arthropathy Autosomal recessive 603400 208230 6 NA +WISP3|PPAC|PPD WISP3|NA|HPD,VSX1 WISP3,VSX1,HPD Arthropathy, progressive pseudorheumatoid, of childhood Autosomal recessive 603400 208230 6 NA LAMA4|LAMA3|CMD1JJ LAMA4|LAMA3,LAMA4|NA LAMA3,LAMA4 Cardiomyopathy, dilated, 1JJ Autosomal dominant 600133 615235 6 NA FEB5 FEB5 FEB5 Febrile seizures, familial, 5 Autosomal dominant 609255 609255 6 between D6S1572 and D6S472 COL10A1 COL10A1 COL10A1 Metaphyseal chondrodysplasia, Schmid type Autosomal dominant 120110 156500 6 NA @@ -2234,17 +2258,18 @@ DSE|SART2|EDSMC2 DSE|DSE|NA DSE ?Ehlers-Danlos syndrome, musculocontractural typ TSPYL1|TSPYL|SIDDT TSPYL1|TSPYL1|NA TSPYL1 Sudden infant death with dysgenesis of the testes syndrome Autosomal recessive 604714 608800 6 NA RSPH4A|CILD11 RSPH4A|RSPH4A RSPH4A Ciliary dyskinesia, primary, 11 None 612647 612649 6 NA RFX6|RFXDC1|MTCHRS RFX6|RFX6|NA RFX6 Mitchell-Riley syndrome Autosomal recessive 612659 615710 6 NA +NUS1|NGBR|C6orf68|CDG1AA NUS1|NA|NUS1|NA NUS1 ?Congenital disorder of glycosylation, type 1aa Autosomal recessive 610463 617082 6 mutation identified in 1 CDG1AA family PLN|PLB|CMD1P|CMH18 PLN|PLB1,PLN|PLN|NA PLN,PLB1 Cardiomyopathy, hypertrophic, 18 Autosomal dominant 172405 613874 6 NA PLN|PLB|CMD1P|CMH18 PLN|PLB1,PLN|PLN|NA PLN,PLB1 Cardiomyopathy, dilated, 1P None 172405 609909 6 NA MCM9|MCMDC1|ODG4 MCM9|MCM9|NA MCM9 Ovarian dysgenesis 4 Autosomal recessive 610098 616185 6 NA +GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Atrioventricular septal defect 3 Autosomal dominant 121014 600309 6 pseudogene on chr.5 +GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Oculodentodigital dysplasia, autosomal recessive Autosomal recessive 121014 257850 6 pseudogene on chr.5 +GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Oculodentodigital dysplasia Autosomal dominant 121014 164200 6 pseudogene on chr.5 GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Hypoplastic left heart syndrome 1 Autosomal recessive 121014 241550 6 pseudogene on chr.5 GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Erythrokeratodermia variabilis et progressiva Autosomal dominant; Autosomal recessive 121014 133200 6 pseudogene on chr.5 GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Syndactyly, type III Autosomal dominant 121014 186100 6 pseudogene on chr.5 GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Craniometaphyseal dysplasia, autosomal recessive Autosomal recessive 121014 218400 6 pseudogene on chr.5 GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Palmoplantar keratoderma with congenital alopecia Autosomal dominant 121014 104100 6 pseudogene on chr.5 -GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Atrioventricular septal defect 3 Autosomal dominant 121014 600309 6 pseudogene on chr.5 -GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Oculodentodigital dysplasia, autosomal recessive Autosomal recessive 121014 257850 6 pseudogene on chr.5 -GJA1|CX43|ODDD|SDTY3|ODOD|HSS|AVSD3|HLHS1|CMDR|EKVP GJA1|GJA1|GJA1|GJA1|GJA1|GFER,PANK2,SGSH,SPAG9|NA|NA|NA|NA SPAG9,GJA1,GFER,PANK2,SGSH Oculodentodigital dysplasia Autosomal dominant 121014 164200 6 pseudogene on chr.5 TRDN|TDN|CPVT5 TRDN|NA|NA TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Autosomal recessive 603283 615441 6 NA LAMA2|LAMM LAMA2|LAMA2 LAMA2 Muscular dystrophy, congenital, due to partial LAMA2 deficiency Autosomal recessive 156225 607855 6 NA LAMA2|LAMM LAMA2|LAMA2 LAMA2 Muscular dystrophy, congenital merosin-deficient Autosomal recessive 156225 607855 6 NA @@ -2254,29 +2279,28 @@ MAFD6|BPAD NA|MAFD1 MAFD1 Major affective disorder 6 None 611536 611536 6 NA RP63 RP63 RP63 Retinitis pigmentosa 63 Autosomal dominant 614494 614494 6 between D6S457 and D6S1656 SPG25 SPG25 SPG25 Spastic paraplegia 25, autosomal recessive Autosomal recessive 608220 608220 6 NA ARG1 ARG1,TINAGL1 ARG1,TINAGL1 Argininemia Autosomal recessive 608313 207800 6 NA -MED23|MRT18 MED23|MRT18 MED23,MRT18 Mental retardation, autosomal recessive 18 None 605042 614249 6 NA +MED23|MRT18 MED23|MRT18 MED23,MRT18 Mental retardation, autosomal recessive 18 Autosomal recessive 605042 614249 6 NA +ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Hypophosphatemic rickets, autosomal recessive, 2 None 173335 613312 6 NA +ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Cole disease Autosomal dominant 173335 615522 6 NA ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Arterial calcification, generalized, of infancy, 1 Autosomal recessive 173335 208000 6 NA ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Obesity, susceptibility to Autosomal dominant; Autosomal recessive; Multifactorial 173335 601665 6 NA ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Diabetes mellitus, non-insulin-dependent, susceptibility to Autosomal dominant 173335 125853 6 NA -ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Hypophosphatemic rickets, autosomal recessive, 2 None 173335 613312 6 NA -ENPP1|PDNP1|NPPS|M6S1|PCA1|ARHR2|COLED ENPP1|ENPP1|ENPP1|ENPP1|ENPP1,PCAT1|NA|NA PCAT1,ENPP1 Cole disease Autosomal dominant 173335 615522 6 NA VNN1|HDLCQ8 VNN1|NA VNN1 High density lipoprotein cholesterol level QTL 8 None 603570 NA 6 NA -EYA4|DFNA10|CMD1J EYA4|EYA4|EYA4 EYA4 Deafness, autosomal dominant 10 Autosomal dominant 603550 601316 6 NA EYA4|DFNA10|CMD1J EYA4|EYA4|EYA4 EYA4 Cardiomyopathy, dilated, 1J None 603550 605362 6 NA +EYA4|DFNA10|CMD1J EYA4|EYA4|EYA4 EYA4 Deafness, autosomal dominant 10 Autosomal dominant 603550 601316 6 NA MYB MYB MYB T-cell acute lymphoblastic leukemia None 189990 NA 6 NA AHI1 AHI1 AHI1 Joubert syndrome-3 Autosomal recessive 608894 608629 6 NA PEX7|RCDP1|PBD9B PEX7|NA|NA PEX7 Rhizomelic chondrodysplasia punctata, type 1 Autosomal recessive 601757 215100 6 NA PEX7|RCDP1|PBD9B PEX7|NA|NA PEX7 Peroxisome biogenesis disorder 9B None 601757 614879 6 NA -IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Hepatitis B virus infection, susceptibility to None 107470 610424 6 NA -IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 H. pylori infection, susceptibility to None 107470 600263 6 NA -IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Immunodeficiency 27B, mycobacteriosis, AD Autosomal dominant 107470 615978 6 NA IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Immunodeficiency 27A, mycobacteriosis, AR Autosomal recessive 107470 209950 6 NA IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Tuberculosis, susceptibility to None 107470 607948 6 NA IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Tuberculosis infection, protection against None 107470 607948 6 NA +IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Hepatitis B virus infection, susceptibility to None 107470 610424 6 NA +IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 H. pylori infection, susceptibility to None 107470 600263 6 NA +IFNGR1|IMD27A|IMD27B IFNGR1|NA|NA IFNGR1 Immunodeficiency 27B, mycobacteriosis, AD Autosomal dominant 107470 615978 6 NA TNFAIP3|A20|OTUD7C|AISBL TNFAIP3|TNFAIP3,IGKV1-27|TNFAIP3|NA IGKV1-27,TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like Autosomal dominant 191163 616744 6 NA CITED2|MRG1|P35SRJ|VSD2|ASD8 CITED2|CITED2,MEIS2,MORF4L1P1|NA|NA|NA CITED2,MEIS2,MORF4L1P1 Ventricular septal defect 2 Autosomal dominant 602937 614431 6 ?pseudogene on 1q22 CITED2|MRG1|P35SRJ|VSD2|ASD8 CITED2|CITED2,MEIS2,MORF4L1P1|NA|NA|NA CITED2,MEIS2,MORF4L1P1 Atrial septal defect 8 Autosomal dominant 602937 614433 6 ?pseudogene on 1q22 -GPR126|VIGR|LCCS9 GPR126|NA|NA GPR126 Lethal congenital contracture syndrome 9 Autosomal recessive 612243 616503 6 NA HIVEP2|MRD43 HIVEP2|NA HIVEP2 Mental retardation, autosomal dominant 43 Autosomal dominant 143054 616977 6 NA PEX3|PBD10A PEX3|NA PEX3 Peroxisome biogenesis disorder 10A (Zellweger) None 603164 614882 6 NA PLAGL1|ZAC|LOT1 PLAGL1|PLAGL1,ZACN|PLAGL1 ZACN,PLAGL1 Diabetes mellitus, transient neonatal None 603044 601410 6 relaxed imprinting in TNDM @@ -2290,14 +2314,14 @@ TAB2|MAP3K7IP2|KIAA0733|CHTD2 TAB2|TAB2|TAB2|NA TAB2 Congenital heart defects, n SUMO4|IDDM5 SUMO4|SUMO4 SUMO4 Diabetes mellitus, insulin-dependent, 5 None 608829 600320 6 NA IYD|DEHAL1|TDH4 IYD|IYD|NA IYD Thyroid dyshormonogenesis 4 Autosomal recessive 612025 274800 6 NA RMND1|COXPD11 RMND1|NA RMND1 Combined oxidative phosphorylation deficiency 11 Autosomal recessive 614917 614922 6 NA +ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 HDL response to hormone replacement, augmented None 133430 NA 6 NA +ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Breast cancer Autosomal dominant 133430 114480 6 NA ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Atherosclerosis, susceptibility to None 133430 NA 6 NA ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Estrogen resistance Autosomal recessive 133430 615363 6 NA ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Myocardial infarction, susceptibility to None 133430 608446 6 NA ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Migraine, susceptibility to Autosomal dominant 133430 157300 6 NA -ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 HDL response to hormone replacement, augmented None 133430 NA 6 NA -ESR1|ESR|ESTRR ESR1|ESR1|NA ESR1 Breast cancer Autosomal dominant 133430 114480 6 NA -SYNE1|KIAA0796|KIAA1756|KIAA1262|SCAR8|EDMD4 SYNE1|SYNE1|NA|NA|SYNE1|NA SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal dominant 608441 612998 6 NA SYNE1|KIAA0796|KIAA1756|KIAA1262|SCAR8|EDMD4 SYNE1|SYNE1|NA|NA|SYNE1|NA SYNE1 Spinocerebellar ataxia, autosomal recessive 8 Autosomal recessive 608441 610743 6 NA +SYNE1|KIAA0796|KIAA1756|KIAA1262|SCAR8|EDMD4 SYNE1|SYNE1|NA|NA|SYNE1|NA SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal dominant 608441 612998 6 NA ARID1B|BAF250B|KIAA1235|MRD12|CSS1 ARID1B|NA|ARID1B|NA|CHSY1 ARID1B,CHSY1 Coffin-Siris syndrome 1 Autosomal dominant 614556 135900 6 NA SERAC1|MEGDEL SERAC1|NA SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Autosomal recessive 614725 614739 6 NA GTF2H5|TTD3|TFB5|C6orf175|TTDA GTF2H5|NA|GTF2H5|GTF2H5|GTF2H5 GTF2H5 Trichothiodystrophy 3, photosensitive None 608780 616395 6 NA @@ -2305,16 +2329,16 @@ RSPH3|RSHL2|RSP3|CILD32 RSPH3|RSPH3|RSPH3|NA RSPH3 Ciliary dyskinesia, primary, SOD2|MNSOD|MVCD6 SOD2|NA|NA SOD2 Microvascular complications of diabetes 6 None 147460 612634 6 NA ACAT2 ACAT2,SOAT2 SOAT2,ACAT2 ?ACAT2 deficiency Isolated cases 100678 614055 6 encoded on strand opposite TCP1 IGF2R|MPRI IGF2R|IGF2R IGF2R Hepatocellular carcinoma, somatic None 147280 114550 6 behaves as a tumor suppressor -LPA LPA LPA Coronary artery disease, susceptibility to None 152200 NA 6 absent in mice LPA LPA LPA LPA deficiency, congenital None 152200 NA 6 absent in mice +LPA LPA LPA Coronary artery disease, susceptibility to None 152200 NA 6 absent in mice DFNB38 DFNB38 DFNB38 Deafness, autosomal recessive 38 Autosomal recessive 608219 608219 6 NA -MRT28 MRT28 MRT28 Mental retardation, autosomal recessive 28 None 614347 614347 6 between rs6935718 and rs3886091 +MRT28 MRT28 MRT28 Mental retardation, autosomal recessive 28 Autosomal recessive 614347 614347 6 between rs6935718 and rs3886091 PLG PLG PLG Plasminogen deficiency, type I Autosomal recessive 173350 217090 6 20cM from TCP10A PLG PLG PLG Dysplasminogenemia Autosomal recessive 173350 217090 6 20cM from TCP10A +PRKN|PARK2|PDJ|LPRS2 NA|PARK2|PARK2|NA PARK2 Adenocarcinoma of lung, somatic None 602544 211980 6 shares 5' regulatory region and both 3' UTRs with PACRG PRKN|PARK2|PDJ|LPRS2 NA|PARK2|PARK2|NA PARK2 Leprosy, susceptibility to None 602544 607572 6 shares 5' regulatory region and both 3' UTRs with PACRG PRKN|PARK2|PDJ|LPRS2 NA|PARK2|PARK2|NA PARK2 Parkinson disease, juvenile, type 2 Autosomal recessive 602544 600116 6 shares 5' regulatory region and both 3' UTRs with PACRG PRKN|PARK2|PDJ|LPRS2 NA|PARK2|PARK2|NA PARK2 Adenocarcinoma, ovarian, somatic None 602544 167000 6 shares 5' regulatory region and both 3' UTRs with PACRG -PRKN|PARK2|PDJ|LPRS2 NA|PARK2|PARK2|NA PARK2 Adenocarcinoma of lung, somatic None 602544 211980 6 shares 5' regulatory region and both 3' UTRs with PACRG PDE10A|IOLOD|ADSD2 PDE10A|NA|NA PDE10A Striatal degeneration, autosomal dominant Autosomal dominant 610652 616922 6 NA PDE10A|IOLOD|ADSD2 PDE10A|NA|NA PDE10A Dyskinesia, limb and orofacial, infantile-onset Autosomal recessive 610652 616921 6 NA T|TFT|SAVA T|NA|NA T Neural tube defects, susceptibility to Autosomal dominant 601397 182940 6 NA @@ -2333,45 +2357,46 @@ MAD1L1|TXBP181 MAD1L1|MAD1L1 MAD1L1 Prostate cancer, somatic None 602686 176807 MAD1L1|TXBP181 MAD1L1|MAD1L1 MAD1L1 Lymphoma, somatic None 602686 NA 7 NA LFNG|SCDO3 LFNG|LFNG LFNG ?Spondylocostal dysostosis 3, autosomal recessive None 602576 609813 7 mutation identified in 1 SDO3 family BRAT1|BAAT1|C7orf27|RMFSL BRAT1|BRAT1|BRAT1|NA BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal Autosomal recessive 614506 614498 7 NA -CARD11|CARMA1|BIMP3|PPBL|BENTA|IMD11 CARD11|CARD11|CARD11|NA|NA|NA CARD11 B-cell expansion with NFKB and T-cell anergy Autosomal dominant 607210 616452 7 NA CARD11|CARMA1|BIMP3|PPBL|BENTA|IMD11 CARD11|CARD11|CARD11|NA|NA|NA CARD11 Immunodeficiency 11 Autosomal recessive 607210 615206 7 NA +CARD11|CARMA1|BIMP3|PPBL|BENTA|IMD11 CARD11|CARD11|CARD11|NA|NA|NA CARD11 B-cell expansion with NFKB and T-cell anergy Autosomal dominant 607210 616452 7 NA AP5Z1|KIAA0415|SPG48 AP5Z1|AP5Z1|AP5Z1 AP5Z1 Spastic paraplegia 48, autosomal recessive Autosomal recessive 613653 613647 7 NA ACTB|BRWS1 ACTB|NA ACTB Baraitser-Winter syndrome 1 Autosomal dominant 102630 243310 7 ~20 pseudogenes also; mutation identified in twin DJO patients ACTB|BRWS1 ACTB|NA ACTB ?Dystonia, juvenile-onset Autosomal dominant 102630 607371 7 ~20 pseudogenes also; mutation identified in twin DJO patients RNF216|TRIAD3|ZIN|CAHH RNF216|RNF216|RNF216,STRN4|NA STRN4,RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism Autosomal recessive 609948 212840 7 NA -PMS2|PMSL2|HNPCC4 PMS2|PMS2|PMS2 PMS2 Colorectal cancer, hereditary nonpolyposis, type 4 None 600259 614337 7 NA PMS2|PMSL2|HNPCC4 PMS2|PMS2|PMS2 PMS2 Mismatch repair cancer syndrome Autosomal recessive 600259 276300 7 NA +PMS2|PMSL2|HNPCC4 PMS2|PMS2|PMS2 PMS2 Colorectal cancer, hereditary nonpolyposis, type 4 None 600259 614337 7 NA MDDC CYMD CYMD Macular dystrophy, dominant cystoid Autosomal dominant 153880 153880 7 ?allelic to RP9 GLCCI1|TSSN1|GCTR GLCCI1|GLCCI1|NA GLCCI1 Glucocorticoid therapy, response to None 614283 614400 7 NA -ISPD|MDDGA7|MDDGC7 ISPD|NA|NA ISPD Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 Autosomal recessive 614631 616052 7 NA ISPD|MDDGA7|MDDGC7 ISPD|NA|NA ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Autosomal recessive 614631 614643 7 NA +ISPD|MDDGA7|MDDGC7 ISPD|NA|NA ISPD Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 Autosomal recessive 614631 616052 7 NA +TWIST1|ACS3|SCS|CRS1 TWIST1|ACSL3,TWIST1|TWIST1|TWIST1 TWIST1,ACSL3 Craniosynostosis, type 1 Autosomal dominant 601622 123100 7 NA TWIST1|ACS3|SCS|CRS1 TWIST1|ACSL3,TWIST1|TWIST1|TWIST1 TWIST1,ACSL3 Saethre-Chotzen syndrome with eyelid anomalies Autosomal dominant 601622 101400 7 NA TWIST1|ACS3|SCS|CRS1 TWIST1|ACSL3,TWIST1|TWIST1|TWIST1 TWIST1,ACSL3 Saethre-Chotzen syndrome Autosomal dominant 601622 101400 7 NA TWIST1|ACS3|SCS|CRS1 TWIST1|ACSL3,TWIST1|TWIST1|TWIST1 TWIST1,ACSL3 Robinow-Sorauf syndrome Autosomal dominant 601622 180750 7 NA -TWIST1|ACS3|SCS|CRS1 TWIST1|ACSL3,TWIST1|TWIST1|TWIST1 TWIST1,ACSL3 Craniosynostosis, type 1 Autosomal dominant 601622 123100 7 NA MYP17|MYP4 MYP17|MYP4 MYP4,MYP17 Myopia 17 Autosomal dominant 608367 608367 7 previously assigned to 7q36 (MYP4) DNAH11|DNAHC11|CILD7|DNAHBL DNAH11|DNAH11|DNAH11|DNAH11 DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus Autosomal recessive 603339 611884 7 NA +IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Rheumatoid arthritis, systemic juvenile None 147620 604302 7 NA +IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Kaposi sarcoma, susceptibility to Autosomal dominant 147620 148000 7 NA IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to Autosomal dominant 147620 108010 7 NA IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Diabetes, susceptibility to, Autosomal recessive 147620 222100 7 NA IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Crohn disease-associated growth failure Multifactorial 147620 266600 7 NA -IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Rheumatoid arthritis, systemic juvenile None 147620 604302 7 NA -IL6|IFNB2|BSF2|HSF|HGF IL6|IL6|IL6|IL6|HGF,IL6,SOS1 IL6,HGF,SOS1 Kaposi sarcoma, susceptibility to Autosomal dominant 147620 148000 7 NA FAM126A|DRCTNNB1A|HLD5 FAM126A|FAM126A|NA FAM126A Leukodystrophy, hypomyelinating, 5 Autosomal recessive 610531 610532 7 NA -KLHL7|RP42 KLHL7|DCUN1D1,KLHL7 KLHL7,DCUN1D1 Retinitis pigmentosa 42 Autosomal dominant 611119 612943 7 NA +KLHL7|RP42|CISS3 KLHL7|DCUN1D1,KLHL7|NA KLHL7,DCUN1D1 Retinitis pigmentosa 42 Autosomal dominant 611119 612943 7 NA +KLHL7|RP42|CISS3 KLHL7|DCUN1D1,KLHL7|NA KLHL7,DCUN1D1 Cold-induced sweating syndrome 3 None 611119 617055 7 NA DFNA5 DFNA5 DFNA5 Deafness, autosomal dominant 5 Autosomal dominant 608798 600994 7 NA CYCS|CYC|THC4 CYCS|CYCS|NA CYCS Thrombocytopenia 4 Autosomal dominant 123970 612004 7 NA HNRPA2B1|IBMPFD2 HNRNPA2B1|NA HNRNPA2B1 ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 None 600124 615422 7 mutation identified in 1 family SNX10|OPTB8 SNX10|NA SNX10 Osteopetrosis, autosomal recessive 8 Autosomal recessive 614780 615085 7 NA -HOXA1|HOX1F|BSAS HOXA1|HOXA1|NA HOXA1 Athabaskan brainstem dysgenesis syndrome None 142955 601536 7 NA HOXA1|HOX1F|BSAS HOXA1|HOXA1|NA HOXA1 Bosley-Salih-Alorainy syndrome None 142955 601536 7 NA +HOXA1|HOX1F|BSAS HOXA1|HOXA1|NA HOXA1 Athabaskan brainstem dysgenesis syndrome None 142955 601536 7 NA HOXA2|MCOHI HOXA2|NA HOXA2 ?Microtia, hearing impairment, and cleft palate (AR) Autosomal dominant; Autosomal recessive 604685 612290 7 NA HOXA2|MCOHI HOXA2|NA HOXA2 ?Microtia with or without hearing impairment (AD) Autosomal dominant; Autosomal recessive 604685 612290 7 NA HOXA11|HOX1I|RUSAT1 HOXA11|HOXA11|NA HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Autosomal dominant 142958 605432 7 NA HOXA13|HOX1J HOXA13|HOXA13 HOXA13 Hand-foot-uterus syndrome Autosomal dominant 142959 140000 7 NA HOXA13|HOX1J HOXA13|HOXA13 HOXA13 Guttmacher syndrome Autosomal dominant 142959 176305 7 NA FKBP14|EDSKMH FKBP14|NA FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Autosomal recessive 614505 614557 7 NA -GARS|SMAD1|CMT2D|HMN5 GARS|GARS,SMAD1|GARS|NA GARS,SMAD1 Charcot-Marie-Tooth disease, type 2D Autosomal dominant 600287 601472 7 NA GARS|SMAD1|CMT2D|HMN5 GARS|GARS,SMAD1|GARS|NA GARS,SMAD1 Neuropathy, distal hereditary motor, type VA Autosomal dominant 600287 600794 7 NA +GARS|SMAD1|CMT2D|HMN5 GARS|GARS,SMAD1|GARS|NA GARS,SMAD1 Charcot-Marie-Tooth disease, type 2D Autosomal dominant 600287 601472 7 NA AQP1|CHIP28|CO AQP1|AQP1|AQP1 AQP1 Blood group, Colton None 107776 110450 7 NA AQP1|CHIP28|CO AQP1|AQP1|AQP1 AQP1 Aquaporin-1 deficiency None 107776 NA 7 NA GHRHR|GHRFR|IGHD1B GHRHR|NA|NA GHRHR Growth hormone deficiency, isolated, type IB None 139191 612781 7 NA @@ -2385,20 +2410,20 @@ TBX20|ASD4 TBX20|NA TBX20 Atrial septal defect 4 None 606061 611363 7 NA ANLN|FSFS8 ANLN|NA ANLN Focal segmental glomerulosclerosis 8 Autosomal dominant 616027 616032 7 NA NME8|TXNDC3|SPTRX2|CILD6 NME8|NME8|NME8|NME8 NME8 Ciliary dyskinesia, primary, 6 Autosomal recessive 607421 610852 7 NA SFRP4|FRPHE|PYL SFRP4|SFRP4|NA SFRP4 Pyle disease Autosomal recessive 606570 265900 7 NA -POU6F2|WTSL|WT5 POU6F2|NA|NA POU6F2 Wilms tumor susceptibility-5 Autosomal dominant; Somatic mutation 609062 601583 7 NA +POU6F2|WTSL|WT5 POU6F2|NA|NA POU6F2 Wilms tumor susceptibility-5 Somatic mutation; Autosomal dominant 609062 601583 7 NA MPLKIP|C7orf11|ABHS|TTDN1|TTD4 MPLKIP|MPLKIP|NA|MPLKIP|NA MPLKIP Trichothiodystrophy 4, nonphotosensitive Autosomal recessive 609188 234050 7 NA C7orf10|GA3 SUGCT|NA SUGCT Glutaric aciduria III Autosomal recessive 609187 231690 7 NA +GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Polydactyly, preaxial, type IV Autosomal dominant 165240 174700 7 amplified in glioblastoma +GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Polydactyly, postaxial, types A1 and B Autosomal dominant 165240 174200 7 amplified in glioblastoma GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Pallister-Hall syndrome Autosomal dominant 165240 146510 7 amplified in glioblastoma GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Greig cephalopolysyndactyly syndrome Autosomal dominant 165240 175700 7 amplified in glioblastoma GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Hypothalamic hamartomas, somatic None 165240 241800 7 amplified in glioblastoma -GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Polydactyly, preaxial, type IV Autosomal dominant 165240 174700 7 amplified in glioblastoma -GLI3|PAPA|PAPB GLI3|GLI3,PAPPA|GLI3 GLI3,PAPPA Polydactyly, postaxial, types A1 and B Autosomal dominant 165240 174200 7 amplified in glioblastoma BLVRA BLVRA BLVRA Hyperbiliverdinemia Autosomal dominant; Autosomal recessive 109750 614156 7 NA PGAM2|PGAMM|GSD10 PGAM2|NA|NA PGAM2 Glycogen storage disease X Autosomal recessive 612931 261670 7 NA -GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 Diabetes mellitus, noninsulin-dependent, late onset Autosomal dominant 138079 125853 7 proximal to TCRB -GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 MODY, type II Autosomal dominant 138079 125851 7 proximal to TCRB GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 Hyperinsulinemic hypoglycemia, familial, 3 Autosomal dominant 138079 602485 7 proximal to TCRB GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 Diabetes mellitus, permanent neonatal Autosomal dominant 138079 606176 7 proximal to TCRB +GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 Diabetes mellitus, noninsulin-dependent, late onset Autosomal dominant 138079 125853 7 proximal to TCRB +GCK|HHF3 GCK,MAP4K2|NA GCK,MAP4K2 MODY, type II Autosomal dominant 138079 125851 7 proximal to TCRB NPC1L1 NPC1L1 NPC1L1 Ezetimibe, nonresponse to None 608010 NA 7 NA OGDH OGDH OGDH Alpha-ketoglutarate dehydrogenase deficiency Autosomal recessive 613022 203740 7 NA C7orf22|CCM2|MGC4067 CCM2|CCM2|NA CCM2 Cerebral cavernous malformations-2 Autosomal dominant 607929 603284 7 NA @@ -2407,10 +2432,10 @@ IKZF1|ZNFN1A1|IK1|LYF1|CVID13 IKZF1|IKZF1|NA|NA|NA IKZF1 Immunodeficiency, commo DDC DDC DDC Aromatic L-amino acid decarboxylase deficiency Autosomal recessive 107930 608643 7 NA NYS3 NYS3 NYS3 Nystagmus 3, congenital, autosomal dominant Autosomal dominant 608345 608345 7 translocation t(7;15)(p11.2;q11.2) SRS|RSS RSS,SMS|RSS,SEPN1 SEPN1,SMS,RSS Silver-Russell syndrome Isolated cases 180860 180860 7 maternal uniparental disomy of chromosome 7 +EGFR|NISBD2 EGFR|NA EGFR ?Inflammatory skin and bowel disease, neonatal, 2 Autosomal recessive 131550 616069 7 same as oncogene ERBB; mutation identified in 1 NISBD2 family EGFR|NISBD2 EGFR|NA EGFR Nonsmall cell lung cancer, susceptibility to Autosomal recessive 131550 211980 7 same as oncogene ERBB; mutation identified in 1 NISBD2 family EGFR|NISBD2 EGFR|NA EGFR Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in Autosomal recessive 131550 211980 7 same as oncogene ERBB; mutation identified in 1 NISBD2 family EGFR|NISBD2 EGFR|NA EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in Autosomal recessive 131550 211980 7 same as oncogene ERBB; mutation identified in 1 NISBD2 family -EGFR|NISBD2 EGFR|NA EGFR ?Inflammatory skin and bowel disease, neonatal, 2 Autosomal recessive 131550 616069 7 same as oncogene ERBB; mutation identified in 1 NISBD2 family PSPH|PSP|PSPHD PSPH|BPIFA2,HRSP12,MSMB,PSPH,PSPN,REG1A|NA PSPN,REG1A,PSPH,BPIFA2,HRSP12,MSMB Phosphoserine phosphatase deficiency Autosomal recessive 172480 614023 7 NA CHCHD2|PARK22 CHCHD2|NA CHCHD2 Parkinson disease 22, autosomal dominant None 616244 616710 7 NA ANIB1 ANIB1 ANIB1 Aneurysm, intracranial berry, 1 Autosomal dominant 105800 105800 7 in or near ELN @@ -2422,8 +2447,8 @@ SBDS|SDS SBDS|SBDS,SDS SBDS,SDS Aplastic anemia, susceptibility to None 607444 6 SBDS|SDS SBDS|SBDS,SDS SBDS,SDS Shwachman-Diamond syndrome Autosomal recessive 607444 260400 7 NA KIAA0442|MRD26 AUTS2|NA AUTS2 Mental retardation, autosomal dominant 26 Autosomal dominant 607270 615834 7 translocation break at 7q11.2 WBS|WMS|WS|DEL7q11|C7DELq11 WBS2,ELN|FBN1|WBS2,ELN|NA|NA ELN,WBS2,FBN1 Williams-Beuren syndrome Autosomal dominant 194050 194050 7 contiguous gene syndrome -ELN ELN ELN Cutis laxa, AD Autosomal dominant 130160 123700 7 NA ELN ELN ELN Supravalvar aortic stenosis Autosomal dominant 130160 185500 7 NA +ELN ELN ELN Cutis laxa, AD Autosomal dominant 130160 123700 7 NA NCF1 NCF1 NCF1 Chronic granulomatous disease due to deficiency of NCF-1 Autosomal recessive 608512 233700 7 NA HIP1 HIP1 HIP1 Prostate cancer, progression of Autosomal dominant 601767 176807 7 NA POR POR POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase None 124015 613571 7 NA @@ -2432,11 +2457,11 @@ HSPB1|HSP27|CMT2F|HMN2B HSPB1|HSPB1|NA|NA HSPB1 Neuropathy, distal hereditary mo HSPB1|HSP27|CMT2F|HMN2B HSPB1|HSPB1|NA|NA HSPB1 Charcot-Marie-Tooth disease, axonal, type 2F Autosomal dominant 602195 606595 7 NA PTPN12|PTPG1 PTPN12|PTPN12 PTPN12 Colon cancer, somatic None 600079 114500 7 NA MHS3 CACNA2D1 CACNA2D1 Malignant hyperthermia susceptibility 3 Autosomal dominant 154276 154276 7 ?mutation in CACNA2 +CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Macrothrombocytopenia None 173510 NA 7 NA +CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Platelet glycoprotein IV deficiency Autosomal recessive 173510 608404 7 NA CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Malaria, cerebral, susceptibility to None 173510 611162 7 NA CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Malaria, cerebral, reduced risk of None 173510 611162 7 NA CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Coronary heart disease, susceptibility to, 7 None 173510 610938 7 NA -CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Macrothrombocytopenia None 173510 NA 7 NA -CD36|CHDS7|BDPLT10 CD36|NA|NA CD36 Platelet glycoprotein IV deficiency Autosomal recessive 173510 608404 7 NA HGF|DFNB39 HGF,IL6,SOS1|HGF HGF,IL6,SOS1 Deafness, autosomal recessive 39 Autosomal recessive 142409 608265 7 NA PCLO|PCH3 PCLO|CLAM CLAM,PCLO ?Pontocerebellar hypoplasia, type 3 Autosomal recessive 604918 608027 7 mutation identified in 1 PCHD3 family SEMA3E|SEMAH|KIAA0331 SEMA3E|SEMA3E|SEMA3E SEMA3E ?CHARGE syndrome Autosomal dominant 608166 214800 7 mutation identified in 1 CHARGE patient @@ -2448,30 +2473,32 @@ ABCB1|PGY1|MDR1|IBD13|CLCs ABCB1|ABCB1|ABCB1,TBC1D9|NA|NA TBC1D9,ABCB1 Inflammat ABCB1|PGY1|MDR1|IBD13|CLCs ABCB1|ABCB1|ABCB1,TBC1D9|NA|NA TBC1D9,ABCB1 Colchicine resistance None 171050 120080 7 NA SHFM1|SHFD1|SHSF1 SHFM1|SHFM1|SHFM1 SHFM1 Split hand/foot malformation 1 Autosomal dominant 183600 183600 7 contiguous gene deletion syndrome AKAP9|YOTIAO|AKAP450 AKAP9|AKAP9|AKAP9 AKAP9 ?Long QT syndrome-11 None 604001 611820 7 mutation identified in 1 LQT11 family +CCM1|CAM|KRIT1 KRIT1|KRIT1|KRIT1 KRIT1 Cavernous malformations of CNS and retina Autosomal dominant 604214 116860 7 NA CCM1|CAM|KRIT1 KRIT1|KRIT1|KRIT1 KRIT1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations Autosomal dominant 604214 116860 7 NA CCM1|CAM|KRIT1 KRIT1|KRIT1|KRIT1 KRIT1 Cerebral cavernous malformations-1 Autosomal dominant 604214 116860 7 NA -CCM1|CAM|KRIT1 KRIT1|KRIT1|KRIT1 KRIT1 Cavernous malformations of CNS and retina Autosomal dominant 604214 116860 7 NA GATAD1|ODAG|CMD2B GATAD1|GATAD1|NA GATAD1 ?Cardiomyopathy, dilated, 2B Autosomal recessive 614518 614672 7 mutation identified in 1 GATAD1 family -PEX1|ZWS1|PBD1A|PBD1B|HMLR1 PEX1|PEX1|NA|NA|NA PEX1 Heimler syndrome 1 Autosomal recessive 602136 234580 7 NA PEX1|ZWS1|PBD1A|PBD1B|HMLR1 PEX1|PEX1|NA|NA|NA PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD) None 602136 601539 7 NA PEX1|ZWS1|PBD1A|PBD1B|HMLR1 PEX1|PEX1|NA|NA|NA PEX1 Peroxisome biogenesis disorder 1A (Zellweger) Autosomal recessive 602136 214100 7 NA +PEX1|ZWS1|PBD1A|PBD1B|HMLR1 PEX1|PEX1|NA|NA|NA PEX1 Heimler syndrome 1 Autosomal recessive 602136 234580 7 NA CDK6|PLSTIRE|MCPH12 CDK6|CDK6|NA CDK6 ?Microcephaly 12, primary, autosomal recessive Autosomal recessive 603368 616080 7 mutation identified in 1 MCPH12 family -SAMD9|NFTC SAMD9|NA SAMD9 Tumoral calcinosis, familial, normophosphatemic Autosomal recessive 610456 610455 7 NA +SAMD9|NFTC|MIRAGE SAMD9|NA|NA SAMD9 MIRAGE syndrome Autosomal dominant 610456 617053 7 NA +SAMD9|NFTC|MIRAGE SAMD9|NA|NA SAMD9 Tumoral calcinosis, familial, normophosphatemic Autosomal recessive 610456 610455 7 NA +SAMD9L|ATXPC SAMD9L|NA SAMD9L Ataxia-pancytopenia syndrome Autosomal dominant 611170 159550 7 NA CALCR|CRT CALCR|CALR CALCR,CALR Osteoporosis, postmenopausal, susceptibility Autosomal dominant 114131 166710 7 not deleted in Williams syndrome +COL1A2 COL1A2 COL1A2 Osteogenesis imperfecta, type IV Autosomal dominant 120160 166220 7 ~17cM from CF +COL1A2 COL1A2 COL1A2 Osteogenesis imperfecta, type III Autosomal dominant 120160 259420 7 ~17cM from CF COL1A2 COL1A2 COL1A2 Osteogenesis imperfecta, type II Autosomal dominant 120160 166210 7 ~17cM from CF COL1A2 COL1A2 COL1A2 Ehlers-Danlos syndrome, type VIIB Autosomal dominant 120160 130060 7 ~17cM from CF COL1A2 COL1A2 COL1A2 Ehlers-Danlos syndrome, cardiac valvular form Autosomal recessive 120160 225320 7 ~17cM from CF COL1A2 COL1A2 COL1A2 Osteoporosis, postmenopausal Autosomal dominant 120160 166710 7 ~17cM from CF -COL1A2 COL1A2 COL1A2 Osteogenesis imperfecta, type IV Autosomal dominant 120160 166220 7 ~17cM from CF -COL1A2 COL1A2 COL1A2 Osteogenesis imperfecta, type III Autosomal dominant 120160 259420 7 ~17cM from CF SGCE|DYT11 SGCE|SGCE SGCE Dystonia-11, myoclonic Autosomal dominant 604149 159900 7 pseudogene on 2q21; maternally imprinted PON1|PON|ESA|MVCD5 PON1|PON1|EPCAM,FLOT2,PON1|NA EPCAM,PON1,FLOT2 Organophosphate poisoning, sensitivity to None 168820 NA 7 NA PON1|PON|ESA|MVCD5 PON1|PON1|EPCAM,FLOT2,PON1|NA EPCAM,PON1,FLOT2 Microvascular complications of diabetes 5 None 168820 612633 7 NA PON1|PON|ESA|MVCD5 PON1|PON1|EPCAM,FLOT2,PON1|NA EPCAM,PON1,FLOT2 Coronary artery spasm 2, susceptibility to None 168820 NA 7 NA PON1|PON|ESA|MVCD5 PON1|PON1|EPCAM,FLOT2,PON1|NA EPCAM,PON1,FLOT2 Coronary artery disease, susceptibility to None 168820 NA 7 NA PON2 PON2 PON2 Coronary artery disease, susceptibility to None 602447 NA 7 NA -SLC25A13|CTLN2 SLC25A13|SLC25A13 SLC25A13 Citrullinemia, type II, neonatal-onset Autosomal recessive 603859 605814 7 NA SLC25A13|CTLN2 SLC25A13|SLC25A13 SLC25A13 Citrullinemia, adult-onset type II Autosomal recessive 603859 603471 7 NA +SLC25A13|CTLN2 SLC25A13|SLC25A13 SLC25A13 Citrullinemia, type II, neonatal-onset Autosomal recessive 603859 605814 7 NA DLX5|SHFM1D DLX5|NA DLX5 ?Split-hand/foot malformation 1 with sensorineural hearing loss Autosomal recessive 600028 220600 7 mutation identified in 1 family ASNS|ASNSD ASNS|NA ASNS Asparagine synthetase deficiency Autosomal recessive 108370 615574 7 temperature sensitive G1 mutant AUTS1 AUTS1 AUTS1 Autism susceptibility 1 Isolated cases; Multifactorial 209850 209850 7 NA @@ -2479,6 +2506,7 @@ NM|NCR NM|NA NM ?Neutrophil chemotactic response, abnormal Autosomal dominant 16 SCA18|SMNA SCA18|SCA18 SCA18 Spinocerebellar ataxia 18 Autosomal dominant 607458 607458 7 between D7S2418 and D7S1804 CYP3A5|P450PCN3 CYP3A5|CYP3A5 CYP3A5 Hypertension, salt-sensitive essential, susceptibility to Multifactorial 605325 145500 7 NA AP4M1|SPG50|CPSQ3 AP4M1|AP4M1|NA AP4M1 Spastic paraplegia 50, autosomal recessive Autosomal recessive 602296 612936 7 NA +TAF6|TAF2E|TAFII80|ALYUS TAF6|TAF6|TAF6|NA TAF6 Alazami-Yuan syndrome None 602955 617126 7 NA STAG3|POF8 STAG3|NA STAG3 Premature ovarian failure 8 Autosomal recessive 608489 615723 7 NA TFR2|HFE3 TFR2|TFR2 TFR2 Hemochromatosis, type 3 None 604720 604250 7 NA EPO|MVCD2 EPO,EPX,TIMP1|NA EPO,TIMP1,EPX Microvascular complications of diabetes 2 None 133170 612623 7 close to COL1A2; no recombination @@ -2488,8 +2516,8 @@ PAI1|PLANH1|SERPINE1 SERPINE1|SERPINE1|SERPINE1 SERPINE1 Plasminogen activator i AP1S1|CLAPS1|AP19|MEDNIK AP1S1|AP1S1|AP1S1|NA AP1S1 MEDNIK syndrome Autosomal recessive 603531 609313 7 NA PLOD3|LH3 PLOD3|PLOD3 PLOD3 Lysyl hydroxylase 3 deficiency Autosomal recessive 603066 612394 7 previously assigned to 7q36 SLC26A5|PRES|DFNB61 SLC26A5|SLC26A5|SLC26A5 SLC26A5 ?Deafness, autosomal recessive 61 Autosomal recessive 604943 613865 7 mutation identified in 1 DFNB61 family -RELN|RL|LIS2|ETL7 RELN|RELN|PAFAH1B1P1|NA RELN,PAFAH1B1P1 Epilepsy, familial temporal lobe, 7 Autosomal dominant 600514 616436 7 NA RELN|RL|LIS2|ETL7 RELN|RELN|PAFAH1B1P1|NA RELN,PAFAH1B1P1 Lissencephaly 2 (Norman-Roberts type) Autosomal recessive 600514 257320 7 NA +RELN|RL|LIS2|ETL7 RELN|RELN|PAFAH1B1P1|NA RELN,PAFAH1B1P1 Epilepsy, familial temporal lobe, 7 Autosomal dominant 600514 616436 7 NA CMD1Q CMD1Q CMD1Q Cardiomyopathy, dilated, 1Q None 609915 609915 7 between D7S2545 and D7S2554 COG5|GOLTC1|GTC90|CDG2I COG5|COG5|COG5|NA COG5 Congenital disorder of glycosylation, type IIi None 606821 613612 7 NA SLC26A4|PDS|DFNB4|EVA|TDH2B SLC26A4|SLC26A4|SLC26A4|MPZL2|NA MPZL2,SLC26A4 Pendred syndrome Autosomal recessive 605646 274600 7 some patients have digenic mutations with FOXI1 @@ -2509,22 +2537,22 @@ MET|DFNB97|OSFD MET|NA|NA MET Hepatocellular carcinoma, childhood type, somatic MET|DFNB97|OSFD MET|NA|NA MET ?Deafness, autosomal recessive 97 Autosomal recessive 164860 616705 7 mutation identified in 1 DFNB97 family MET|DFNB97|OSFD MET|NA|NA MET Osteofibrous dysplasia, susceptibility to Autosomal dominant 164860 607278 7 mutation identified in 1 DFNB97 family MET|DFNB97|OSFD MET|NA|NA MET Renal cell carcinoma, papillary, 1, familial and somatic None 164860 605074 7 mutation identified in 1 DFNB97 family -CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Bronchiectasis with or without elevated sweat chloride 1, modifier of Autosomal dominant 602421 211400 7 distal and 5' to MET CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Sweat chloride elevation without CF None 602421 NA 7 distal and 5' to MET CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Cystic fibrosis Autosomal recessive 602421 219700 7 distal and 5' to MET CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Congenital bilateral absence of vas deferens Autosomal recessive 602421 277180 7 distal and 5' to MET CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Pancreatitis, idiopathic Autosomal dominant 602421 167800 7 distal and 5' to MET CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Hypertrypsinemia, neonatal None 602421 NA 7 distal and 5' to MET +CFTR|ABCC7|CF|MRP7 CFTR|CFTR|CFTR|ABCC10,CFTR CFTR,ABCC10 Bronchiectasis with or without elevated sweat chloride 1, modifier of Autosomal dominant 602421 211400 7 distal and 5' to MET TSPAN12|NET2|EVR5 TSPAN12|SRSF11|NA TSPAN12,SRSF11 Exudative vitreoretinopathy 5 Autosomal dominant 613138 613310 7 NA PTPRZ1|PTP18 PTPRZ1|PTPRZ1 PTPRZ1 H. pylori infection, susceptibility to None 176891 600263 7 NA -AASS AASS AASS Hyperlysinemia Autosomal recessive 605113 238700 7 NA AASS AASS AASS Saccharopinuria Autosomal recessive 605113 268700 7 NA +AASS AASS AASS Hyperlysinemia Autosomal recessive 605113 238700 7 NA FEZF1|FEZ|ZNF312B|HH22 FEZF1|NA|FEZF1|NA FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia Autosomal recessive 613301 616030 7 NA TAS2R16|T2R16 TAS2R16|TAS2R16 TAS2R16 Alcohol dependence Multifactorial 604867 103780 7 NA POT1|CMM10|GLM9 POT1|NA|NA POT1 Melanoma, cutaneous malignant, susceptibility to, 10 Autosomal dominant 606478 615848 7 NA POT1|CMM10|GLM9 POT1|NA|NA POT1 Glioma susceptibility 9 Autosomal dominant 606478 616568 7 NA PPR3 PVRL3 PVRL3 Photoparoxysmal response 3 None 609573 609573 7 max lod at D7S1804 -SCA32 SCA32 SCA32 Spinocerebellar ataxia 32 None 613909 613909 7 between rs3847110 and rs2241728 +SCA32 SCA32 SCA32 Spinocerebellar ataxia 32 Autosomal dominant 613909 613909 7 between rs3847110 and rs2241728 PAX4|MODY9|KPD PAX4|PAX4|NA PAX4 Diabetes mellitus, ketosis-prone, susceptibility to Autosomal dominant 167413 612227 7 NA PAX4|MODY9|KPD PAX4|PAX4|NA PAX4 Maturity-onset diabetes of the young, type IX None 167413 612225 7 NA PAX4|MODY9|KPD PAX4|PAX4|NA PAX4 Diabetes mellitus, type 2 Autosomal dominant 167413 125853 7 NA @@ -2533,30 +2561,33 @@ RBM28|ANES RBM28|NA RBM28 ?Alopecia, neurologic defects, and endocrinopathy synd IMPDH1|RP10|LCA11 IMPDH1|IMPDH1|IMPDH1 IMPDH1 Leber congenital amaurosis 11 None 146690 613837 7 pseudogene on 16p13.13 IMPDH1|RP10|LCA11 IMPDH1|IMPDH1|IMPDH1 IMPDH1 Retinitis pigmentosa 10 Autosomal dominant 146690 180105 7 pseudogene on 16p13.13 OPN1SW|BCP|CBT OPN1SW|OPN1SW|OPN1SW OPN1SW Colorblindness, tritan Autosomal dominant 613522 190900 7 NA -FLNC|FLN2|ABPA|ABPL|MFM5|MPD4 FLNC|FLNC|NA|FLNC|NA|NA FLNC Myopathy, myofibrillar, 5 Autosomal dominant 102565 609524 7 NA -FLNC|FLN2|ABPA|ABPL|MFM5|MPD4 FLNC|FLNC|NA|FLNC|NA|NA FLNC Myopathy, distal, 4 Autosomal dominant 102565 614065 7 NA -IRF5|IBD14|SLEB10 IRF5|NA|NA IRF5 Inflammatory bowel disease 14 None 607218 612245 7 NA +FLNC|FLN2|ABPA|ABPL|MFM5|MPD4|CMH26|RCM5 FLNC|FLNC|NA|FLNC|NA|NA|NA|NA FLNC Cardiomyopathy, familial restrictive 5 Autosomal dominant 102565 617047 7 NA +FLNC|FLN2|ABPA|ABPL|MFM5|MPD4|CMH26|RCM5 FLNC|FLNC|NA|FLNC|NA|NA|NA|NA FLNC Cardiomyopathy, familial hypertrophic, 26 None 102565 NA 7 NA +FLNC|FLN2|ABPA|ABPL|MFM5|MPD4|CMH26|RCM5 FLNC|FLNC|NA|FLNC|NA|NA|NA|NA FLNC Myopathy, myofibrillar, 5 Autosomal dominant 102565 609524 7 NA +FLNC|FLN2|ABPA|ABPL|MFM5|MPD4|CMH26|RCM5 FLNC|FLNC|NA|FLNC|NA|NA|NA|NA FLNC Myopathy, distal, 4 Autosomal dominant 102565 614065 7 NA IRF5|IBD14|SLEB10 IRF5|NA|NA IRF5 Systemic lupus erythematosus, susceptibility to, 10 None 607218 612251 7 NA +IRF5|IBD14|SLEB10 IRF5|NA|NA IRF5 Inflammatory bowel disease 14 None 607218 612245 7 NA TNPO3|TRNSR|LGMD1F TNPO3|NA|TNPO3 TNPO3 Muscular dystrophy, limb-girdle, type 1F Autosomal dominant 610032 608423 7 NA -SMOH|SMO SMO|SMO,SMOX SMO,SMOX Basal cell carcinoma, somatic None 601500 NA 7 NA +SMOH|SMO|CRJS SMO|SMO,SMOX|NA SMO,SMOX Curry-Jones syndrome, somatic mosaic None 601500 601707 7 NA +SMOH|SMO|CRJS SMO|SMO,SMOX|NA SMO,SMOX Basal cell carcinoma, somatic None 601500 605462 7 NA MIR96|MIRN96|DFNA50 MIR96|MIR96|MIR96 MIR96 Deafness, autosomal dominant 50 Autosomal dominant 611606 613074 7 NA CEP41|TSGA14|JBTS15 CEP41|CEP41|CEP41 CEP41 Joubert syndrome 15 Autosomal recessive 610523 614464 7 NA BMIQ1 BMIQ1 BMIQ1 Body mass index QTL1 None 606641 606641 7 max lod at D7S1804 BPGM BPGM BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency Autosomal recessive 613896 222800 7 NA NUP205|C7orf14|KIAA0225|NPHS13 NUP205|NUP205|NUP205|NA NUP205 ?Nephrotic syndrome, type 13 None 614352 616893 7 mutation identified in 1 NPHS13 family AKR1D1|SRD5B1|CBAS2 AKR1D1|AKR1D1|NA AKR1D1 Bile acid synthesis defect, congenital, 2 Autosomal recessive 604741 235555 7 NA -DFNB13 DFNB13 DFNB13 Deafness, autosomal recessive 13 None 603098 603098 7 NA +DFNB13 DFNB13 DFNB13 Deafness, autosomal recessive 13 Autosomal recessive 603098 603098 7 NA OTSC2 OTSC2 OTSC2 Otosclerosis 2 None 605727 605727 7 NA ATP6V0A4|ATP6N1B|VPP2|RTA1C|RTADR ATP6V0A4|ATP6V0A4|ATP6V1A,ATP6V0A4|ATP6V0A4|ATP6V0A4 ATP6V0A4,ATP6V1A Renal tubular acidosis, distal, autosomal recessive None 605239 602722 7 NA -TBXAS1|GHOSAL|CYP5|BDPLT14 TBXAS1|NA|TBXAS1|NA TBXAS1 Ghosal hematodiaphyseal syndrome Autosomal recessive 274180 231095 7 NA TBXAS1|GHOSAL|CYP5|BDPLT14 TBXAS1|NA|TBXAS1|NA TBXAS1 ?Thromboxane synthase deficiency Autosomal dominant 274180 614158 7 NA +TBXAS1|GHOSAL|CYP5|BDPLT14 TBXAS1|NA|TBXAS1|NA TBXAS1 Ghosal hematodiaphyseal syndrome Autosomal recessive 274180 231095 7 NA +BRAF|NS7 BRAF|NA BRAF LEOPARD syndrome 3 Autosomal dominant 164757 613707 7 pseudogene BRAF2 on Xq13 or 7q +BRAF|NS7 BRAF|NA BRAF Colorectal cancer, somatic None 164757 NA 7 pseudogene BRAF2 on Xq13 or 7q BRAF|NS7 BRAF|NA BRAF Cardiofaciocutaneous syndrome Autosomal dominant 164757 115150 7 pseudogene BRAF2 on Xq13 or 7q BRAF|NS7 BRAF|NA BRAF Noonan syndrome 7 None 164757 613706 7 pseudogene BRAF2 on Xq13 or 7q BRAF|NS7 BRAF|NA BRAF Adenocarcinoma of lung, somatic None 164757 211980 7 pseudogene BRAF2 on Xq13 or 7q BRAF|NS7 BRAF|NA BRAF Nonsmall cell lung cancer, somatic None 164757 NA 7 pseudogene BRAF2 on Xq13 or 7q BRAF|NS7 BRAF|NA BRAF Melanoma, malignant, somatic None 164757 NA 7 pseudogene BRAF2 on Xq13 or 7q -BRAF|NS7 BRAF|NA BRAF LEOPARD syndrome 3 Autosomal dominant 164757 613707 7 pseudogene BRAF2 on Xq13 or 7q -BRAF|NS7 BRAF|NA BRAF Colorectal cancer, somatic None 164757 NA 7 pseudogene BRAF2 on Xq13 or 7q AGK|MULK|MTDPS10|CATC5|CTRCT38 AGK|AGK|NA|NA|NA AGK Sengers syndrome Autosomal recessive 610345 212350 7 NA AGK|MULK|MTDPS10|CATC5|CTRCT38 AGK|AGK|NA|NA|NA AGK Cataract 38, autosomal recessive Autosomal recessive 610345 614691 7 NA TAS2R38|T2R61|PTC TAS2R38|TAS2R38|CCDC6,RET,TAS2R38 CCDC6,RET,TAS2R38 Phenylthiocarbamide tasting Autosomal dominant 607751 171200 7 NA @@ -2564,44 +2595,43 @@ PRSS1|TRY1 PRSS1|PRSS1 PRSS1 Trypsinogen deficiency Autosomal recessive 276000 6 PRSS1|TRY1 PRSS1|PRSS1 PRSS1 Pancreatitis, hereditary Autosomal dominant 276000 167800 7 8 trypsinogen genes embedded in TCRB locus PRSS2|TRY2 PRSS2|PRSS2 PRSS2 Pancreatitis, chronic, protection against Autosomal dominant 601564 167800 7 NA KEL KEL KEL Blood group, Kell None 613883 110900 7 NA -CLCN1 CLCN1 CLCN1 Myotonia levior, recessive None 118425 NA 7 NA CLCN1 CLCN1 CLCN1 Myotonia congenita, recessive Autosomal recessive 118425 255700 7 NA CLCN1 CLCN1 CLCN1 Myotonia congenita, dominant Autosomal dominant 118425 160800 7 NA +CLCN1 CLCN1 CLCN1 Myotonia levior, recessive None 118425 NA 7 NA GPDS1|PDS1 GPDS1|NA GPDS1 Pigment dispersion syndrome Autosomal dominant 600510 600510 7 NA NOBOX|POF5 NOBOX|NA NOBOX Premature ovarian failure 5 Autosomal dominant 610934 611548 7 NA TPK1|THMD5 TPK1|NA TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Autosomal recessive 606370 614458 7 NA -CNTNAP2|CASPR2|NRXN4|CDFE|AUTS15|PTHSL1 CNTNAP2|NA|CNTNAP1,CNTNAP2|NA|NA|NA CNTNAP1,CNTNAP2 Cortical dysplasia-focal epilepsy syndrome None 604569 610042 7 NA CNTNAP2|CASPR2|NRXN4|CDFE|AUTS15|PTHSL1 CNTNAP2|NA|CNTNAP1,CNTNAP2|NA|NA|NA CNTNAP1,CNTNAP2 Autism susceptibility 15 None 604569 612100 7 NA CNTNAP2|CASPR2|NRXN4|CDFE|AUTS15|PTHSL1 CNTNAP2|NA|CNTNAP1,CNTNAP2|NA|NA|NA CNTNAP1,CNTNAP2 Pitt-Hopkins like syndrome 1 None 604569 610042 7 NA +CNTNAP2|CASPR2|NRXN4|CDFE|AUTS15|PTHSL1 CNTNAP2|NA|CNTNAP1,CNTNAP2|NA|NA|NA CNTNAP1,CNTNAP2 Cortical dysplasia-focal epilepsy syndrome None 604569 610042 7 NA EZH2|EZH1|WVS EZH2|EZH1,EZH2|NA EZH1,EZH2 Weaver syndrome Autosomal dominant 601573 277590 7 pseudogene on 21q22 -KCNH2|LQT2|HERG|SQT1 KCNH2|KCNH2|KCNH2|NA KCNH2 Long QT syndrome 2 Autosomal dominant 152427 613688 7 NA KCNH2|LQT2|HERG|SQT1 KCNH2|KCNH2|KCNH2|NA KCNH2 Long QT syndrome 2, acquired, susceptibility to Autosomal dominant 152427 613688 7 NA KCNH2|LQT2|HERG|SQT1 KCNH2|KCNH2|KCNH2|NA KCNH2 Short QT syndrome 1 None 152427 609620 7 NA +KCNH2|LQT2|HERG|SQT1 KCNH2|KCNH2|KCNH2|NA KCNH2 Long QT syndrome 2 Autosomal dominant 152427 613688 7 NA +NOS3 NANOS3,NOS3 NANOS3,NOS3 Ischemic stroke, susceptibility to Multifactorial 163729 601367 7 NA +NOS3 NANOS3,NOS3 NANOS3,NOS3 Hypertension, susceptibility to Multifactorial 163729 145500 7 NA NOS3 NANOS3,NOS3 NANOS3,NOS3 Hypertension, pregnancy-induced Autosomal dominant 163729 189800 7 NA NOS3 NANOS3,NOS3 NANOS3,NOS3 Coronary artery spasm 1, susceptibility to None 163729 NA 7 NA NOS3 NANOS3,NOS3 NANOS3,NOS3 Alzheimer disease, late-onset, susceptibility to Autosomal dominant 163729 104300 7 NA NOS3 NANOS3,NOS3 NANOS3,NOS3 Placental abruption None 163729 NA 7 NA -NOS3 NANOS3,NOS3 NANOS3,NOS3 Ischemic stroke, susceptibility to Multifactorial 163729 601367 7 NA -NOS3 NANOS3,NOS3 NANOS3,NOS3 Hypertension, susceptibility to Multifactorial 163729 145500 7 NA CDK5|LIS7 CDK5|NA CDK5 ?Lissencephaly 7 with cerebellar hypoplasia Autosomal recessive 123831 616342 7 mutation identified in 1 LIS7 family ASB10|GLC1F ASB10|ASB10 ASB10 Glaucoma 1, open angle, F None 615054 603383 7 NA +PRKAG2|WPWS|CMH6 PRKAG2|PRKAG2|PRKAG2 PRKAG2 Cardiomyopathy, hypertrophic 6 Autosomal dominant 602743 600858 7 NA PRKAG2|WPWS|CMH6 PRKAG2|PRKAG2|PRKAG2 PRKAG2 Wolff-Parkinson-White syndrome ?Autosomal dominant 602743 194200 7 NA PRKAG2|WPWS|CMH6 PRKAG2|PRKAG2|PRKAG2 PRKAG2 Glycogen storage disease of heart, lethal congenital Autosomal dominant 602743 261740 7 NA -PRKAG2|WPWS|CMH6 PRKAG2|PRKAG2|PRKAG2 PRKAG2 Cardiomyopathy, hypertrophic 6 Autosomal dominant 602743 600858 7 NA -DPP6|VF2|MRD33 DPP6|NA|NA DPP6 Ventricular fibrillation, paroxysmal familial, 2 Autosomal dominant 126141 612956 7 NA DPP6|VF2|MRD33 DPP6|NA|NA DPP6 Mental retardation, autosomal dominant 33 None 126141 616311 7 NA -PACIP1|PAXIP1L|PTIP NA|PAXIP1|PAXIP1 PAXIP1 Alzheimer disease, susceptibility to Autosomal dominant 608254 104300 7 NA +DPP6|VF2|MRD33 DPP6|NA|NA DPP6 Ventricular fibrillation, paroxysmal familial, 2 Autosomal dominant 126141 612956 7 NA +SHH|HPE3|HLP3|SMMCI|MCOPCB5 SHH|SHH|SHH,VSNL1|SHH|SHH SHH,VSNL1 Single median maxillary central incisor Autosomal dominant 600725 147250 7 separate from TPT1 SHH|HPE3|HLP3|SMMCI|MCOPCB5 SHH|SHH|SHH,VSNL1|SHH|SHH SHH,VSNL1 Schizencephaly None 600725 269160 7 separate from TPT1 SHH|HPE3|HLP3|SMMCI|MCOPCB5 SHH|SHH|SHH,VSNL1|SHH|SHH SHH,VSNL1 Microphthalmia with coloboma 5 Autosomal dominant 600725 611638 7 separate from TPT1 SHH|HPE3|HLP3|SMMCI|MCOPCB5 SHH|SHH|SHH,VSNL1|SHH|SHH SHH,VSNL1 Holoprosencephaly 3 Autosomal dominant 600725 142945 7 separate from TPT1 -SHH|HPE3|HLP3|SMMCI|MCOPCB5 SHH|SHH|SHH,VSNL1|SHH|SHH SHH,VSNL1 Single median maxillary central incisor Autosomal dominant 600725 147250 7 separate from TPT1 +LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Laurin-Sandrow syndrome Autosomal dominant 605522 135750 7 NA +LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Hypoplastic or aplastic tibia with polydactyly Autosomal dominant 605522 188740 7 NA +LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Triphalangeal thumb-polysyndactyly syndrome Autosomal dominant 605522 174500 7 NA LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Acheiropody Autosomal recessive 605522 200500 7 NA LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Triphalangeal thumb, type I Autosomal dominant 605522 174500 7 NA LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Syndactyly, type IV Autosomal dominant 605522 186200 7 NA LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Polydactyly, preaxial type II Autosomal dominant 605522 174500 7 NA -LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Laurin-Sandrow syndrome Autosomal dominant 605522 135750 7 NA -LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Hypoplastic or aplastic tibia with polydactyly Autosomal dominant 605522 188740 7 NA -LMBR1|ACHP|C7orf2|PPD2|THYP|LSS LMBR1|LMBR1|LMBR1|NA|NA|LSS LSS,LMBR1 Triphalangeal thumb-polysyndactyly syndrome Autosomal dominant 605522 174500 7 NA MNX1|HLXB9|HOXHB9|SCRA1 MNX1|MNX1|MNX1|MNX1 MNX1 Currarino syndrome Autosomal dominant 142994 176450 7 NA DNAJB6|MRJ|DJ4|LGMD1E DNAJB6|DNAJB6|NA|CMD1F CMD1F,DNAJB6 Muscular dystrophy, limb-girdle, type 1E Autosomal dominant 611332 603511 7 previously assigned to 11q25 WDR60|SRTD8|SRPS6 WDR60|NA|NA WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly Autosomal recessive 615462 615503 7 NA @@ -2615,14 +2645,14 @@ MCPH1 MCPH1 MCPH1 Microcephaly 1, primary, autosomal recessive Autosomal recessi MFHAS1|MASL1 MFHAS1|MFHAS1 MFHAS1 Malignant fibrous histiocytoma None 605352 605352 8 NA RP1L1 RP1L1 RP1L1 Occult macular dystrophy Autosomal dominant 608581 613587 8 NA BLK|MODY11 BLK|NA BLK Maturity-onset diabetes of the young, type 11 Autosomal dominant 191305 613375 8 NA +GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Ventricular septal defect 1 Autosomal dominant 600576 614429 8 mutations identified in 1 TACHD family +GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Tetralogy of Fallot Autosomal dominant 600576 187500 8 mutations identified in 1 TACHD family GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Atrioventricular septal defect 4 Autosomal dominant 600576 614430 8 mutations identified in 1 TACHD family GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Atrial septal defect 2 Autosomal dominant 600576 607941 8 mutations identified in 1 TACHD family GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 ?Testicular anomalies with or without congenital heart disease Autosomal dominant 600576 615542 8 mutations identified in 1 TACHD family -GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Ventricular septal defect 1 Autosomal dominant 600576 614429 8 mutations identified in 1 TACHD family -GATA4|ASD2|VSD1|TACHD|TOF GATA4|NA|AVSD1|NA|FEZF2 GATA4,AVSD1,FEZF2 Tetralogy of Fallot Autosomal dominant 600576 187500 8 mutations identified in 1 TACHD family DFNB71 DFNB71 DFNB71 Deafness, autosomal recessive 71 Autosomal recessive 612789 612789 8 max lod at D8S261 DLC1 DLC1,DLEC1,DYNLL1 DLEC1,DYNLL1,DLC1 Colorectal cancer, somatic None 604258 114500 8 NA -TUSC3|M33|D8S1992|MRT7|MRT22 TUSC3|NA|NA|TUSC3|MRT22 MRT22,TUSC3 Mental retardation, autosomal recessive 7 None 601385 611093 8 NA +TUSC3|M33|D8S1992|MRT7|MRT22 TUSC3|NA|NA|TUSC3|MRT22 MRT22,TUSC3 Mental retardation, autosomal recessive 7 Autosomal recessive 601385 611093 8 NA MSR1|SCARA1|SRA MSR1|MSR1|SRA1 SRA1,MSR1 Prostate cancer, hereditary Autosomal dominant 153622 176807 8 ~11cM distal to LPL MSR1|SCARA1|SRA MSR1|MSR1|SRA1 SRA1,MSR1 Barrett esophagus/esophageal adenocarcinoma None 153622 614266 8 ~11cM distal to LPL FGF20|RHDA2 FGF20|NA FGF20 ?Renal hypodysplasia/aplasia 2 Autosomal recessive 605558 615721 8 mutation identified in 1 RHDA2 family @@ -2645,10 +2675,10 @@ HR|AU|MUHH1|HYPT4 HR|HR|NA|NA HR Atrichia with papular lesions Autosomal recessi HR|AU|MUHH1|HYPT4 HR|HR|NA|NA HR Alopecia universalis Autosomal recessive 602302 203655 8 NA SFTPC|SFTP2|SMDP2 SFTPC|SFTPC|SFTPC SFTPC Surfactant metabolism dysfunction, pulmonary, 2 Autosomal dominant 178620 610913 8 NA BMP1|OI13 BMP1|NA BMP1 Osteogenesis imperfecta, type XIII Autosomal recessive 112264 614856 8 1kb 3' to SFTP2 -SLC39A14|ZIP14|KIAA0062|HMNDYT2 SLC39A14|SLC39A14|SLC39A14|NA SLC39A14 Hypermanganesemia with dystonia 2 None 608736 617013 8 NA +SLC39A14|ZIP14|KIAA0062|HMNDYT2 SLC39A14|SLC39A14|SLC39A14|NA SLC39A14 Hypermanganesemia with dystonia 2 Autosomal recessive 608736 617013 8 NA TNFRSF10B|DR5|TRAILR2 TNFRSF10B|TNFRSF10B|NA TNFRSF10B Squamous cell carcinoma, head and neck Autosomal recessive 603612 275355 8 NA -NKX2-6|CSX2|CTHM NKX2-6|NKX2-6|CTHM CTHM,NKX2-6 Persistent truncus arteriosus None 611770 217095 8 NA NKX2-6|CSX2|CTHM NKX2-6|NKX2-6|CTHM CTHM,NKX2-6 Conotruncal heart malformations None 611770 217095 8 NA +NKX2-6|CSX2|CTHM NKX2-6|NKX2-6|CTHM CTHM,NKX2-6 Persistent truncus arteriosus None 611770 217095 8 NA NEFL|CMT2E|CMT1F NEFL|NEFL|NEFL NEFL Charcot-Marie-Tooth disease, type 2E Autosomal dominant 162280 607684 8 NA NEFL|CMT2E|CMT1F NEFL|NEFL|NEFL NEFL Charcot-Marie-Tooth disease, type 1F Autosomal dominant; Autosomal recessive 162280 607734 8 NA GNRH1|LNRH|HH12 GNRH1|NA|NA GNRH1 ?Hypogonadotropic hypogonadism 12 with or without anosmia Autosomal recessive 152760 614841 8 mutation identified in 1 HH12 family @@ -2668,35 +2698,35 @@ ADRB3 ADRB3 ADRB3 Obesity, susceptibility to Autosomal dominant; Autosomal reces STAR GUCY2C,STAR GUCY2C,STAR Lipoid adrenal hyperplasia Autosomal recessive 600617 201710 8 NA DDHD2|KIAA0725|SPG54 DDHD2|DDHD2|DDHD2 DDHD2 Spastic paraplegia 54, autosomal recessive Autosomal recessive 615003 615033 8 NA WHSC1L1|NSD3 WHSC1L1|WHSC1L1 WHSC1L1 Leukemia, acute myeloid Autosomal dominant 607083 601626 8 pseudogene on 17q21; fusion partner with NUP98 in AML +FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Jackson-Weiss syndrome Autosomal dominant 136350 123150 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies +FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia Autosomal dominant 136350 147950 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Hartsfield syndrome Autosomal dominant 136350 615465 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Trigonocephaly 1 Autosomal dominant 136350 190440 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Encephalocraniocutaneous lipomatosis Somatic mosaicism 136350 613001 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Pfeiffer syndrome Autosomal dominant 136350 101600 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Osteoglophonic dysplasia Autosomal dominant 136350 166250 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies -FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Jackson-Weiss syndrome Autosomal dominant 136350 123150 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies -FGFR1|FLT2|OGD|KAL2|HH2|HRTFDS|ECCL FGFR1|FGFR1|NA|FGFR1|NA|NA|NA FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia Autosomal dominant 136350 147950 8 fused with BCR, CEP1, FOP, FIM in hematologic malignancies ADAM9|MDC9|MCMP|CORD9 ADAM9|ADAM9|ADAM9|ADAM9 ADAM9 Cone-rod dystrophy 9 None 602713 612775 8 NA ANK1|SPH1 ANK1|ANK1 ANK1 Spherocytosis, type 1 Autosomal dominant 612641 182900 8 NA KAT6A|MYST3|MOZ|ZNF220|MRD32 KAT6A|KAT6A|KAT6A|KAT6A|NA KAT6A Mental retardation, autosomal dominant 32 Autosomal dominant 601408 616268 8 NA -PLAT|TPA PLAT|NA PLAT Thrombophilia, familial, due to decreased release of PLAT None 173370 612348 8 NA PLAT|TPA PLAT|NA PLAT Hyperfibrinolysis, familial, due to increased release of PLAT None 173370 612348 8 NA +PLAT|TPA PLAT|NA PLAT Thrombophilia, familial, due to decreased release of PLAT None 173370 612348 8 NA IKBKB|NFKBIKB|IMD15 IKBKB|IKBKB|NA IKBKB Immunodeficiency 15 Autosomal recessive 603258 615592 8 NA SLC20A2|MLVAR|GLVR2|IBGC1 SLC20A2|SLC20A2|SLC20A2|IBGC1 SLC20A2,IBGC1 Basal ganglia calcification, idiopathic, 1 Autosomal dominant 158378 213600 8 NA THAP1|DYT6 THAP1|THAP1 THAP1 Dystonia 6, torsion Autosomal dominant 609520 602629 8 NA RNF170|SNAX1 RNF170|RNF170 RNF170 Ataxia, sensory, 1, autosomal dominant Autosomal dominant 614649 608984 8 NA POMK|SGK196|MDDGA12|MDDGC12 POMK|NA|NA|NA POMK Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 Autosomal recessive 615247 615249 8 mutation in 1 MDDGC12 family has been reported POMK|SGK196|MDDGA12|MDDGC12 POMK|NA|NA|NA POMK ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 Autosomal recessive 615247 616094 8 mutation in 1 MDDGC12 family has been reported -HGSNAT|TMEM76|MPS3C|RP73 HGSNAT|HGSNAT|NA|NA HGSNAT Retinitis pigmentosa 73 Autosomal recessive 610453 616544 8 NA HGSNAT|TMEM76|MPS3C|RP73 HGSNAT|HGSNAT|NA|NA HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) Autosomal recessive 610453 252930 8 NA +HGSNAT|TMEM76|MPS3C|RP73 HGSNAT|HGSNAT|NA|NA HGSNAT Retinitis pigmentosa 73 Autosomal recessive 610453 616544 8 NA CCAL1 CCAL1 CCAL1 Chondrocalcinosis with early-onset osteoarthritis Autosomal dominant 600668 600668 8 NA GCCD3|FGD3|GCCD2 NA|FGD3|NA FGD3 Glucocorticoid deficiency 3 Autosomal recessive 609197 609197 8 between D8S285 and D8S1718 PRKDC|HYRC1|DNPK1|IMD26 PRKDC|PRKDC|PRKDC|NA PRKDC Immunodeficiency 26, with or without neurologic abnormalities Autosomal recessive 600899 615966 8 NA MCM4|NKGCD|NKCD MCM4|NA|NA MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect Autosomal recessive 602638 609981 8 NA -SNAI2|SLUG|WS2D SNAI2|SNAI2|NA SNAI2 Piebaldism Autosomal dominant 602150 172800 8 NA SNAI2|SLUG|WS2D SNAI2|SNAI2|NA SNAI2 Waardenburg syndrome, type 2D Autosomal recessive 602150 608890 8 NA +SNAI2|SLUG|WS2D SNAI2|SNAI2|NA SNAI2 Piebaldism Autosomal dominant 602150 172800 8 NA RB1CC1|CC1|KIAA0203 RB1CC1|NA|RB1CC1 RB1CC1 Breast cancer, somatic None 606837 114480 8 NA SOX17|VUR3 SOX17|NA SOX17 Vesicoureteral reflux 3 Autosomal dominant 610928 613674 8 NA -RP1|ORP1 MAPRE2,RP1,STK19|OSBPL1A RP1,OSBPL1A,STK19,MAPRE2 Retinitis pigmentosa 1 Autosomal dominant 603937 180100 8 NA +RP1|ORP1 MAPRE2,RP1,STK19|OSBPL1A RP1,OSBPL1A,STK19,MAPRE2 Retinitis pigmentosa 1 Autosomal dominant; Autosomal recessive 603937 180100 8 NA PLAG1|SGPA|PSA PLAG1|NA|KLK3,NPEPPS,PSAT1 PSAT1,NPEPPS,KLK3,PLAG1 Adenomas, salivary gland pleomorphic, somatic None 603026 181030 8 fused with CTNNB1 in SGPA IMPAD1|GPAPP|IMPA3 IMPAD1|NA|IMPAD1 IMPAD1 Chondrodysplasia with joint dislocations, GPAPP type Autosomal recessive 614010 614078 8 NA CA8|CALS|CARP|CAMRQ3 CA8|CA8|ANKRD1,CA8,FAM188A|NA FAM188A,CA8,ANKRD1 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Autosomal recessive 114815 613227 8 NA @@ -2704,69 +2734,69 @@ CHD7|HH5 CHD7|NA CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia No CHD7|HH5 CHD7|NA CHD7 CHARGE syndrome Autosomal dominant 608892 214800 8 NA ASPH|HAAH|FDLAB ASPH|ASPH|NA ASPH Traboulsi syndrome Autosomal recessive 600582 601552 8 NA TTPA|TTP1|AVED TTPA|COPRS|TTPA COPRS,TTPA Ataxia with isolated vitamin E deficiency Autosomal recessive 600415 277460 8 NA -CYP7B1|CBAS3|SPG5A CYP7B1|NA|CYP7B1 CYP7B1 Bile acid synthesis defect, congenital, 3 Autosomal recessive 603711 613812 8 NA CYP7B1|CBAS3|SPG5A CYP7B1|NA|CYP7B1 CYP7B1 Spastic paraplegia 5A, autosomal recessive Autosomal recessive 603711 270800 8 NA +CYP7B1|CBAS3|SPG5A CYP7B1|NA|CYP7B1 CYP7B1 Bile acid synthesis defect, congenital, 3 Autosomal recessive 603711 613812 8 NA DURS1|DUS DURS1|NA DURS1 Duane retraction syndrome 1 Autosomal dominant 126800 126800 8 NA FEB1 FEB1 FEB1 Febrile seizures, familial, 1 Autosomal dominant 121210 121210 8 NA CSPP1|CSPP|JBTS21 CSPP1|CSPP1|CSPP1 CSPP1 Joubert syndrome 21 Autosomal recessive 611654 615636 8 NA CPA6|CPAH|ETL5|FEB11 CPA6,CYP2A6|CPA6|NA|NA CPA6,CYP2A6 Febrile seizures, familial, 11 Autosomal recessive 609562 614418 8 NA CPA6|CPAH|ETL5|FEB11 CPA6,CYP2A6|CPA6|NA|NA CPA6,CYP2A6 Epilepsy, familial temporal lobe, 5 Autosomal dominant 609562 614417 8 NA -EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 Branchiootorenal syndrome 1, with or without cataracts Autosomal dominant 601653 113650 8 mutation identified in 1 OFC1 family -EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 Branchiootic syndrome 1 Autosomal dominant 601653 602588 8 mutation identified in 1 OFC1 family EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 Anterior segment anomalies with or without cataract Autosomal dominant 601653 113650 8 mutation identified in 1 OFC1 family EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 ?Otofaciocervical syndrome Autosomal dominant 601653 166780 8 mutation identified in 1 OFC1 family +EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 Branchiootorenal syndrome 1, with or without cataracts Autosomal dominant 601653 113650 8 mutation identified in 1 OFC1 family +EYA1|BOR|BOS1|OFC1 EYA1|CDCA8,EYA1|NA|OFC1 CDCA8,OFC1,EYA1 Branchiootic syndrome 1 Autosomal dominant 601653 602588 8 mutation identified in 1 OFC1 family OPA6 OPA6 OPA6 Optic atrophy 6 Autosomal recessive 258500 258500 8 between D8S1702 and D8S1794 TRPA1|ANKTM1|FEPS TRPA1|TRPA1|NA TRPA1 Episodic pain syndrome, familial Autosomal dominant 604775 615040 8 NA TMEM70|MC5DN2 TMEM70|NA TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Autosomal recessive 612418 614052 8 NA JPH1|JP1|CMT2K JPH1|TRGJP1|NA TRGJP1,JPH1 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K Autosomal dominant; Autosomal recessive 605266 607831 8 mutation identified in 1 CMT2K family +GDAP1|CMT4A|CMT2K|CMTRIA GDAP1|GDAP1|NA|NA GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A Autosomal recessive 606598 608340 8 NA GDAP1|CMT4A|CMT2K|CMTRIA GDAP1|GDAP1|NA|NA GDAP1 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Autosomal recessive 606598 607706 8 NA GDAP1|CMT4A|CMT2K|CMTRIA GDAP1|GDAP1|NA|NA GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K Autosomal dominant; Autosomal recessive 606598 607831 8 NA GDAP1|CMT4A|CMT2K|CMTRIA GDAP1|GDAP1|NA|NA GDAP1 Charcot-Marie-Tooth disease, type 4A Autosomal recessive 606598 214400 8 NA -GDAP1|CMT4A|CMT2K|CMTRIA GDAP1|GDAP1|NA|NA GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A Autosomal recessive 606598 608340 8 NA ZFHX4|ZFH4 ZFHX4|ZFHX4 ZFHX4 ?Ptosis, congenital Autosomal dominant 606940 178300 8 NA PEX2|PAF1|PMP35|PBD5A|PBD5B|PXMP3 PEX2|PAF1|PEX2|NA|NA|PEX2 PAF1,PEX2 Peroxisome biogenesis disorder 5B Autosomal recessive 170993 614867 8 NA PEX2|PAF1|PMP35|PBD5A|PBD5B|PXMP3 PEX2|PAF1|PEX2|NA|NA|PEX2 PAF1,PEX2 Peroxisome biogenesis disorder 5A (Zellweger) Autosomal recessive 170993 614866 8 NA CA2 CA2 CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Autosomal recessive 611492 259730 8 CA1, CA2 linked in monkey and mouse -CNGB3|ACHM3|ACHM1 CNGB3|CNGB3|CNGB3 CNGB3 Achromatopsia-3 Autosomal recessive 605080 262300 8 NA CNGB3|ACHM3|ACHM1 CNGB3|CNGB3|CNGB3 CNGB3 Macular degeneration, juvenile Autosomal recessive 605080 248200 8 NA -NBN|NBS1 ARTN,NBN|NBN,NLRP2 NLRP2,NBN,ARTN Nijmegen breakage syndrome Autosomal recessive 602667 251260 8 NA +CNGB3|ACHM3|ACHM1 CNGB3|CNGB3|CNGB3 CNGB3 Achromatopsia-3 Autosomal recessive 605080 262300 8 NA NBN|NBS1 ARTN,NBN|NBN,NLRP2 NLRP2,NBN,ARTN Leukemia, acute lymphoblastic None 602667 613065 8 NA NBN|NBS1 ARTN,NBN|NBN,NLRP2 NLRP2,NBN,ARTN Aplastic anemia None 602667 609135 8 NA +NBN|NBS1 ARTN,NBN|NBN,NLRP2 NLRP2,NBN,ARTN Nijmegen breakage syndrome Autosomal recessive 602667 251260 8 NA HTC1 HTC1 HTC1 ?Hypertrichosis universalis congenita, Ambras type Autosomal dominant 145701 145701 8 NA +TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 Bardet-Biedl syndrome 14, modifier of Autosomal recessive 609884 615991 8 NA TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 Nephronophthisis 11 Autosomal recessive 609884 613550 8 NA TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 Meckel syndrome 3 Autosomal recessive 609884 607361 8 NA TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 Joubert syndrome 6 Autosomal recessive 609884 610688 8 NA TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 COACH syndrome Autosomal recessive 609884 216360 8 NA -TMEM67|MKS3|JBTS6|NPHP11 TMEM67|TMEM67|TMEM67|TMEM67 TMEM67 Bardet-Biedl syndrome 14, modifier of Autosomal recessive 609884 615991 8 NA PDP1|PPM2C|PDP1|PDPC PDP1,PPAPDC2|PDP1|PDP1,PPAPDC2|NA PDP1,PPAPDC2 Pyruvate dehydrogenase phosphatase deficiency Autosomal recessive 605993 608782 8 NA -RAD54B RAD54B RAD54B Colon cancer, somatic None 604289 114500 8 NA RAD54B RAD54B RAD54B Lymphoma, non-Hodgkin, somatic None 604289 605027 8 NA +RAD54B RAD54B RAD54B Colon cancer, somatic None 604289 114500 8 NA NDUFAF6|C8orf38 NDUFAF6|NDUFAF6 NDUFAF6 Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial; Autosomal recessive 612392 256000 8 NA C8orf37|CORD16|RP64 C8orf37|C8orf37|C8orf37 C8orf37 Retinitis pigmentosa 64 Autosomal recessive 614477 614500 8 NA C8orf37|CORD16|RP64 C8orf37|C8orf37|C8orf37 C8orf37 Cone-rod dystrophy 16 Autosomal recessive 614477 614500 8 NA +GDF6|MCOP4|KFS1|MCOPCB6|LCA17 GDF6|NA|GDF6|NA|NA GDF6 Klippel-Feil syndrome 1, autosomal dominant Autosomal dominant 601147 118100 8 NA GDF6|MCOP4|KFS1|MCOPCB6|LCA17 GDF6|NA|GDF6|NA|NA GDF6 Microphthalmia, isolated 4 None 601147 613094 8 NA GDF6|MCOP4|KFS1|MCOPCB6|LCA17 GDF6|NA|GDF6|NA|NA GDF6 Microphthalmia with coloboma 6, digenic None 601147 613703 8 NA GDF6|MCOP4|KFS1|MCOPCB6|LCA17 GDF6|NA|GDF6|NA|NA GDF6 Leber congenital amaurosis 17 Autosomal recessive 601147 615360 8 NA -GDF6|MCOP4|KFS1|MCOPCB6|LCA17 GDF6|NA|GDF6|NA|NA GDF6 Klippel-Feil syndrome 1, autosomal dominant Autosomal dominant 601147 118100 8 NA UQCRB|UQBP|QPC|MC3DN3 UQCRB|UQCRB|NA|NA UQCRB Mitochondrial complex III deficiency, nuclear type 3 Autosomal recessive 191330 615158 8 NA PTDSS1|PSS1|KIAA0024|LMHD PTDSS1|PTDSS1|PTDSS1|NA PTDSS1 Lenz-Majewski hyperostotic dwarfism Autosomal dominant 612792 151050 8 NA VPS13B|KIAA0532|COH1 VPS13B|NA|VPS13B VPS13B Cohen syndrome Autosomal recessive 607817 216550 8 NA SPAG1|CILD28 SPAG1|SPAG8 SPAG8,SPAG1 Ciliary dyskinesia, primary, 28 Autosomal recessive 603395 615505 8 NA MMD2 MMD2 MMD2 Miyoshi muscular dystrophy 2 None 613318 613318 8 max lod at D10S2325 -GRHL2|TFCP2L3|DFNA28|ECTDS GRHL2|GRHL2|GRHL2|NA GRHL2 Deafness, autosomal dominant 28 Autosomal dominant 608576 608641 8 NA GRHL2|TFCP2L3|DFNA28|ECTDS GRHL2|GRHL2|GRHL2|NA GRHL2 Ectodermal dysplasia/short stature syndrome Autosomal recessive 608576 616029 8 NA +GRHL2|TFCP2L3|DFNA28|ECTDS GRHL2|GRHL2|GRHL2|NA GRHL2 Deafness, autosomal dominant 28 Autosomal dominant 608576 608641 8 NA +RRM2B|P53R2|PEOA5|MTDPS8A|MTDPS8B RRM2B|NA|NA|NA|NA RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Autosomal recessive 604712 612075 8 NA RRM2B|P53R2|PEOA5|MTDPS8A|MTDPS8B RRM2B|NA|NA|NA|NA RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant 604712 613077 8 NA RRM2B|P53R2|PEOA5|MTDPS8A|MTDPS8B RRM2B|NA|NA|NA|NA RRM2B Mitochondrial DNA depletion syndrome 8B (MNGIE type) Autosomal recessive 604712 612075 8 NA -RRM2B|P53R2|PEOA5|MTDPS8A|MTDPS8B RRM2B|NA|NA|NA|NA RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Autosomal recessive 604712 612075 8 NA FZD6|NDNC10 FZD6|NA FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) Autosomal recessive 603409 614157 8 NA CTHRC1 CTHRC1 CTHRC1 Barrett esophagus/esophageal adenocarcinoma None 610635 614266 8 NA SLC25A32|MFT|RREI SLC25A32|NA|NA SLC25A32 ?Exercise intolerance, riboflavin-responsive Autosomal recessive 610815 616839 8 mutation identified in 1 RREI patient DPYS|DHP DPYS|NA DPYS Dihydropyrimidinuria Autosomal recessive 613326 222748 8 NA GLC1D GLC1D GLC1D Glaucoma 1D, primary open angle None 602429 602429 8 NA MYMY3 MYMY3 MYMY3 Moyamoya disease 3 None 608796 608796 8 max lod at D8S546 -ZFPM2|FOG2|DIH3|SRXY9 ZFPM2|ZFPM2|NA|NA ZFPM2 46XY sex reversal 9 Autosomal dominant 603693 616067 8 NA ZFPM2|FOG2|DIH3|SRXY9 ZFPM2|ZFPM2|NA|NA ZFPM2 Tetralogy of Fallot Autosomal dominant 603693 187500 8 NA ZFPM2|FOG2|DIH3|SRXY9 ZFPM2|ZFPM2|NA|NA ZFPM2 Diaphragmatic hernia 3 None 603693 610187 8 NA +ZFPM2|FOG2|DIH3|SRXY9 ZFPM2|ZFPM2|NA|NA ZFPM2 46XY sex reversal 9 Autosomal dominant 603693 616067 8 NA TRHR TRHR TRHR Thyrotropin-releasing hormone resistance, generalized None 188545 NA 8 NA TRPS1 TRPS1 TRPS1 Trichorhinophalangeal syndrome, type III Autosomal dominant 604386 190351 8 NA TRPS1 TRPS1 TRPS1 Trichorhinophalangeal syndrome, type I Autosomal dominant 604386 190350 8 NA @@ -2776,12 +2806,12 @@ THM THM THM ?Tibial hemimelia Autosomal recessive 275220 275220 8 NA TRPS2|LGCR|LGS NA|EXT1,TRPS1|EXT1,LGSN TRPS1,LGSN,EXT1 Trichorhinophalangeal syndrome, type II Autosomal dominant 150230 150230 8 contiguous gene syndrome involving TRPS1 and EXT1 RAD21|SCC1|NXP1|KIAA0078|CDLS4 RAD21|RAD21|NA|RAD21|NA RAD21 Cornelia de Lange syndrome 4 Autosomal dominant 606462 614701 8 NA SLC30A8|ZNT8 SLC30A8|SLC30A10 SLC30A10,SLC30A8 Diabetes mellitus, noninsulin-dependent, susceptibility to Autosomal dominant 611145 125853 8 NA -EXT1 EXT1 EXT1 Chondrosarcoma Autosomal recessive 608177 215300 8 distal to TRPS1 EXT1 EXT1 EXT1 Exostoses, multiple, type 1 Autosomal dominant 608177 133700 8 distal to TRPS1 +EXT1 EXT1 EXT1 Chondrosarcoma Autosomal recessive 608177 215300 8 distal to TRPS1 TNFRSF11B|OPG|OCIF|PDB5 TNFRSF11B,BTF3P11|TNFRSF11B,BTF3P11|TNFRSF11B,BTF3P11|PDB5 BTF3P11,PDB5,TNFRSF11B Paget disease of bone 5, juvenile-onset Autosomal recessive 602643 239000 8 NA TAF2|TAF2B|TAFII150|CIF150|MRT40 TAF2|TAF2|TAF2|TAF2|NA TAF2 Mental retardation, autosomal recessive 40 Autosomal recessive 604912 615599 8 NA RNF139|TRC8|RCA1 RNF139|RNF139|RCA1,RNF139 RNF139,RCA1 Renal cell carcinoma None 603046 144700 8 NA -NDUFB9|UQOR22 NDUFB9|NDUFB9 NDUFB9 ?Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 601445 252010 8 mutation identified in 1 family +NDUFB9|UQOR22 NDUFB9|NDUFB9 NDUFB9 ?Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 601445 252010 8 mutation identified in 1 family KIAA0196|SPG8|RTSC1 KIAA0196|KIAA0196|NA KIAA0196 Spastic paraplegia 8, autosomal dominant Autosomal dominant 610657 603563 8 NA KIAA0196|SPG8|RTSC1 KIAA0196|KIAA0196|NA KIAA0196 Ritscher-Schinzel syndrome 1 Autosomal recessive 610657 220210 8 NA MYC MYC MYC Burkitt lymphoma Isolated cases 190080 113970 8 cen-5'-3'-ter @@ -2796,26 +2826,26 @@ TRAPPC9|NIBP|KIAA1882|MRT13 TRAPPC9|TRAPPC9|TRAPPC9|TRAPPC9 TRAPPC9 Mental retar SLURP1|MDM SLURP1|SLURP1 SLURP1 Meleda disease Autosomal recessive 606119 248300 8 NA CYP11B1|P450C11|FHI CYP11B1|CYP11B1|CYP11B1 CYP11B1 Aldosteronism, glucocorticoid-remediable Autosomal dominant 610613 103900 8 chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like CYP11B1|P450C11|FHI CYP11B1|CYP11B1|CYP11B1 CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Autosomal recessive 610613 202010 8 chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like +CYP11B2 CYP11B2 CYP11B2 Aldosterone to renin ratio raised None 124080 NA 8 NA CYP11B2 CYP11B2 CYP11B2 Low renin hypertension, susceptibility to None 124080 NA 8 NA CYP11B2 CYP11B2 CYP11B2 Hypoaldosteronism, congenital, due to CMO II deficiency Autosomal recessive 124080 610600 8 NA CYP11B2 CYP11B2 CYP11B2 Hypoaldosteronism, congenital, due to CMO I deficiency Autosomal recessive 124080 203400 8 NA -CYP11B2 CYP11B2 CYP11B2 Aldosterone to renin ratio raised None 124080 NA 8 NA GPIHBP1|HYPL1D GPIHBP1|NA GPIHBP1 Hyperlipoproteinemia, type 1D Autosomal recessive 612757 615947 8 NA FAM83H|AI3 FAM83H|NA FAM83H Amelogenesis imperfecta, type III Autosomal dominant 611927 130900 8 NA PUF60|FIR|SIAHBP1|VRJS PUF60|FARP2,PUF60|PUF60|NA PUF60,FARP2 Verheij syndrome Autosomal dominant 604819 615583 8 NA +PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC Epidermolysis bullosa simplex with muscular dystrophy Autosomal recessive 601282 226670 8 mutation identified in 1 EBSND family +PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC ?Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive 601282 616487 8 mutation identified in 1 EBSND family PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC Muscular dystrophy, limb-girdle, type 2Q Autosomal recessive 601282 613723 8 mutation identified in 1 EBSND family PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC Epidermolysis bullosa simplex, Ogna type Autosomal dominant 601282 131950 8 mutation identified in 1 EBSND family PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC Epidermolysis bullosa simplex with pyloric atresia Autosomal recessive 601282 612138 8 mutation identified in 1 EBSND family -PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC Epidermolysis bullosa simplex with muscular dystrophy Autosomal recessive 601282 226670 8 mutation identified in 1 EBSND family -PLEC1|PLEC|PLTN|EBS1|LGMD2Q|EBSOG|EBSPA|EBSMD|EBSND PLEC|PLEC|PLEC|PLEC|NA|NA|NA|NA|NA PLEC ?Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive 601282 616487 8 mutation identified in 1 EBSND family OPLAH|OPLAHD OPLAH|NA OPLAH 5-oxoprolinase deficiency Autosomal recessive 614243 260005 8 NA CYC1|MC3DN6 CYC1|NA CYC1 Mitochondrial complex III deficiency, nuclear type 6 Autosomal recessive 123980 615453 8 NA DGAT1|ARGP1|DIAR7 DGAT1|DGAT1|NA DGAT1 ?Diarrhea 7 Autosomal recessive 604900 615863 8 mutation identified in 1 DIAR7 family SLC52A2|GPR172A|GPCR41|PAR1|FLJ11856|BVVLS2 SLC52A2|SLC52A2|SLC52A2|F2R,SLC52A2,PWAR1|SLC52A2|NA F2R,SLC52A2,PWAR1 Brown-Vialetto-Van Laere syndrome 2 Autosomal recessive 607882 614707 8 NA SLC39A4|ZIP4 SLC39A4|SLC39A4 SLC39A4 Acrodermatitis enteropathica Autosomal recessive 607059 201100 8 NA -RECQL4|RTS|RECQ4 RECQL4|CREBBP|NA RECQL4,CREBBP Rothmund-Thomson syndrome Autosomal recessive 603780 268400 8 NA RECQL4|RTS|RECQ4 RECQL4|CREBBP|NA RECQL4,CREBBP RAPADILINO syndrome Autosomal recessive 603780 266280 8 NA RECQL4|RTS|RECQ4 RECQL4|CREBBP|NA RECQL4,CREBBP Baller-Gerold syndrome Autosomal recessive 603780 218600 8 NA +RECQL4|RTS|RECQ4 RECQL4|CREBBP|NA RECQL4,CREBBP Rothmund-Thomson syndrome Autosomal recessive 603780 268400 8 NA AIS3|VAMAS4 AIS3|NA AIS3 Autoimmune disease, susceptibility to, 3 None 608392 608392 8 NA HDLCQ1 HDLCQ1 HDLCQ1 High density lipoprotein cholesterol level QTL 1 None 606613 606613 9 NA DOCK8 DOCK8 DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive Autosomal recessive 611432 243700 9 NA @@ -2826,12 +2856,12 @@ KCNV2|KV11.1|RCD3B KCNV2|NA|NA KCNV2 Retinal cone dystrophy 3B Autosomal recessi GLIS3|ZNF515|NDH GLIS3|GLIS3|NA GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism Autosomal recessive 610192 610199 9 NA SLC1A1|EAAC1|SCZD18|DCBXA SLC1A1|SLC1A1|NA|NA SLC1A1 ?Schizophrenia susceptibility 18 None 133550 615232 9 mutation identified in 1 SCZD18 family SLC1A1|EAAC1|SCZD18|DCBXA SLC1A1|SLC1A1|NA|NA SLC1A1 Dicarboxylic aminoaciduria Autosomal recessive 133550 222730 9 mutation identified in 1 SCZD18 family -JAK2|THCYT3 JAK2|NA JAK2 Thrombocythemia 3 Autosomal dominant; Somatic mutation 147796 614521 9 NA -JAK2|THCYT3 JAK2|NA JAK2 Polycythemia vera, somatic None 147796 263300 9 NA -JAK2|THCYT3 JAK2|NA JAK2 Myelofibrosis, somatic None 147796 254450 9 NA JAK2|THCYT3 JAK2|NA JAK2 Leukemia, acute myeloid, somatic None 147796 601626 9 NA JAK2|THCYT3 JAK2|NA JAK2 Erythrocytosis, somatic None 147796 133100 9 NA JAK2|THCYT3 JAK2|NA JAK2 Budd-Chiari syndrome, somatic None 147796 600800 9 NA +JAK2|THCYT3 JAK2|NA JAK2 Thrombocythemia 3 Somatic mutation; Autosomal dominant 147796 614521 9 NA +JAK2|THCYT3 JAK2|NA JAK2 Polycythemia vera, somatic None 147796 263300 9 NA +JAK2|THCYT3 JAK2|NA JAK2 Myelofibrosis, somatic None 147796 254450 9 NA GLDC|HYGN1|GCSP|GCE|NKH GLDC|NA|GLDC|NA|AMT,GLDC GLDC,AMT Glycine encephalopathy Autosomal recessive 238300 605899 9 NA DFNB83 DFNB83 DFNB83 Deafness, autosomal recessive 83 Autosomal recessive 613685 613685 9 between rs4742645 and rs1471364 FRDA2 FRDA2 FRDA2 Friedreich ataxia 2 Autosomal recessive 601992 601992 9 NA @@ -2845,10 +2875,11 @@ FREM1|C9orf154|BNAR|MOTA|TRIGNO2 FREM1|FREM1|NA|NA|NA FREM1 Bifid nose with or w MFT2|TEM NA|TNMD TNMD Trichoepithelioma, multiple familial, 2 None 612099 612099 9 max lod at D9S171 IFNA1|IFNA@ IFNA1|IFNA1 IFNA1 Interferon, alpha, deficiency None 147660 NA 9 very close to IFF by Fd, LD; 15-30 genes MTAP|DMSMFH MTAP|NA MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma Autosomal dominant 156540 112250 9 NA +CDKN2A|MTS1|P16|MLM|CMM2 CDKN2A|CDKN2A,S100A4|NA|CDKN2A|CDKN2A S100A4,CDKN2A Melanoma, cutaneous malignant, 2 Autosomal dominant 600160 155601 9 NA CDKN2A|MTS1|P16|MLM|CMM2 CDKN2A|CDKN2A,S100A4|NA|CDKN2A|CDKN2A S100A4,CDKN2A Pancreatic cancer/melanoma syndrome Autosomal dominant 600160 606719 9 NA CDKN2A|MTS1|P16|MLM|CMM2 CDKN2A|CDKN2A,S100A4|NA|CDKN2A|CDKN2A S100A4,CDKN2A Orolaryngeal cancer, multiple None 600160 NA 9 NA CDKN2A|MTS1|P16|MLM|CMM2 CDKN2A|CDKN2A,S100A4|NA|CDKN2A|CDKN2A S100A4,CDKN2A Melanoma and neural system tumor syndrome Autosomal dominant 600160 155755 9 NA -CDKN2A|MTS1|P16|MLM|CMM2 CDKN2A|CDKN2A,S100A4|NA|CDKN2A|CDKN2A S100A4,CDKN2A Melanoma, cutaneous malignant, 2 Autosomal dominant 600160 155601 9 NA +IFT74|CCDC2|CMG1|BBS20 IFT74|IFT74|IFT74|NA IFT74 ?Bardet-Biedl syndrome 20 Autosomal recessive 608040 617119 9 mutation identified in 1 BBS20 patient TEK|TIE2|VMCM TEK|TEK|TEK TEK Venous malformations, multiple cutaneous and mucosal Autosomal dominant 600221 600195 9 NA C9orf72|FTDALS1|FTDALS|ALSFTD C9orf72|NA|NA|NA C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Autosomal dominant 614260 105550 9 NA DDX58|RIGI|SGMRT2 DDX58|NA|NA DDX58 Singleton-Merten syndrome 2 Autosomal dominant 609631 616298 9 NA @@ -2858,26 +2889,26 @@ B4GALT1|GGTB2|GT1|GTB|CDG2D B4GALT1|B4GALT1|MYL4|NA|NA B4GALT1,MYL4 Congenital d AQP7|GLYCQTL AQP7|NA AQP7 Glycerol quantitative trait locus Autosomal recessive 602974 614411 9 NA AQP3 AQP3 AQP3 Blood group GIL None 600170 607457 9 incorrectly mapped to chr.7 DNAI1|CILD1|ICS|PCD DNAI1|DNAI1|NA|DNAAF3,DNAH5,DNAI1,PCBD1 DNAI1,DNAAF3,PCBD1,DNAH5 Ciliary dyskinesia, primary, 1, with or without situs inversus Autosomal recessive 604366 244400 9 NA -SIGMAR1|SRBP|ALS16|DSMA2 SIGMAR1|NA|NA|NA SIGMAR1 ?Spinal muscular atrophy, distal, autosomal recessive, 2 Autosomal recessive 601978 605726 9 mutation identified in 1 ALS16 family and 1 DSMA2 family SIGMAR1|SRBP|ALS16|DSMA2 SIGMAR1|NA|NA|NA SIGMAR1 ?Amyotrophic lateral sclerosis 16, juvenile Autosomal recessive 601978 614373 9 mutation identified in 1 ALS16 family and 1 DSMA2 family +SIGMAR1|SRBP|ALS16|DSMA2 SIGMAR1|NA|NA|NA SIGMAR1 ?Spinal muscular atrophy, distal, autosomal recessive, 2 Autosomal recessive 601978 605726 9 mutation identified in 1 ALS16 family and 1 DSMA2 family GALT GALT GALT Galactosemia Autosomal recessive 606999 230400 9 NA IL11RA|CRSDA IL11RA|NA IL11RA Craniosynostosis and dental anomalies Autosomal recessive 600939 614188 9 NA +VCP|IBMPFD1|ALS14|CMT2Y VCP|NA|NA|NA VCP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 Autosomal dominant 601023 167320 9 NA VCP|IBMPFD1|ALS14|CMT2Y VCP|NA|NA|NA VCP Charcot-Marie-Tooth disease, type 2Y Autosomal dominant 601023 616687 9 NA VCP|IBMPFD1|ALS14|CMT2Y VCP|NA|NA|NA VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia None 601023 613954 9 NA -VCP|IBMPFD1|ALS14|CMT2Y VCP|NA|NA|NA VCP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 Autosomal dominant 601023 167320 9 NA XRCC9|FANCG FANCG|FANCG FANCG Fanconi anemia, complementation group G None 602956 614082 9 NA PIGO|HPMRS2 PIGO|NA PIGO Hyperphosphatasia with mental retardation syndrome 2 Autosomal recessive 614730 614749 9 NA -RMRP|RMRPR|CHH RMRP|RMRP|RMRP RMRP Metaphyseal dysplasia without hypotrichosis Autosomal recessive 157660 250460 9 NA RMRP|RMRPR|CHH RMRP|RMRP|RMRP RMRP Cartilage-hair hypoplasia Autosomal recessive 157660 250250 9 NA RMRP|RMRPR|CHH RMRP|RMRP|RMRP RMRP Anauxetic dysplasia Autosomal recessive 157660 607095 9 NA +RMRP|RMRPR|CHH RMRP|RMRP|RMRP RMRP Metaphyseal dysplasia without hypotrichosis Autosomal recessive 157660 250460 9 NA +TPM2|TMSB|AMCD1|DA1|DA2B|NEM4 TPM2|NA|TPM2|TPM2,IGHD4-11|TNNI2,TNNT3|TPM2 TNNT3,TNNI2,TPM2,IGHD4-11 Arthrogryposis multiplex congenita, distal, type 1 Autosomal dominant 190990 108120 9 NA TPM2|TMSB|AMCD1|DA1|DA2B|NEM4 TPM2|NA|TPM2|TPM2,IGHD4-11|TNNI2,TNNT3|TPM2 TNNT3,TNNI2,TPM2,IGHD4-11 Nemaline myopathy 4, autosomal dominant Autosomal dominant 190990 609285 9 NA TPM2|TMSB|AMCD1|DA1|DA2B|NEM4 TPM2|NA|TPM2|TPM2,IGHD4-11|TNNI2,TNNT3|TPM2 TNNT3,TNNI2,TPM2,IGHD4-11 CAP myopathy 2 Autosomal dominant 190990 609285 9 NA TPM2|TMSB|AMCD1|DA1|DA2B|NEM4 TPM2|NA|TPM2|TPM2,IGHD4-11|TNNI2,TNNT3|TPM2 TNNT3,TNNI2,TPM2,IGHD4-11 Arthrogryposis, distal, type 2B Autosomal dominant 190990 601680 9 NA -TPM2|TMSB|AMCD1|DA1|DA2B|NEM4 TPM2|NA|TPM2|TPM2,IGHD4-11|TNNI2,TNNT3|TPM2 TNNT3,TNNI2,TPM2,IGHD4-11 Arthrogryposis multiplex congenita, distal, type 1 Autosomal dominant 190990 108120 9 NA GBA2|KIAA1605|SPG46 GBA2|GBA2|GBA2 GBA2 Spastic paraplegia 46, autosomal recessive Autosomal recessive 609471 614409 9 NA -NPR2|ANPRB|AMDM|ECDM|SNSK NPR2,NPRL2|NPR2|NPR2|NA|NA NPR2,NPRL2 Short stature with nonspecific skeletal abnormalities Autosomal dominant 108961 616255 9 NA NPR2|ANPRB|AMDM|ECDM|SNSK NPR2,NPRL2|NPR2|NPR2|NA|NA NPR2,NPRL2 Epiphyseal chondrodysplasia, Miura type Autosomal dominant 108961 615923 9 NA NPR2|ANPRB|AMDM|ECDM|SNSK NPR2,NPRL2|NPR2|NPR2|NA|NA NPR2,NPRL2 Acromesomelic dysplasia, Maroteaux type Autosomal recessive 108961 602875 9 NA +NPR2|ANPRB|AMDM|ECDM|SNSK NPR2,NPRL2|NPR2|NPR2|NA|NA NPR2,NPRL2 Short stature with nonspecific skeletal abnormalities Autosomal dominant 108961 616255 9 NA GNE|GLCNE|IBM2|DMRV|NM GNE|NA|GNE|NA|NM NM,GNE Sialuria Autosomal dominant 603824 269921 9 NA GNE|GLCNE|IBM2|DMRV|NM GNE|NA|GNE|NA|NM NM,GNE Nonaka myopathy Autosomal recessive 603824 605820 9 NA PAX5|BSAP|ALL3 PAX5|PAX5|NA PAX5 Leukemia, acute lymphoblastic, susceptibility to, 3 None 167414 615545 9 NA @@ -2894,15 +2925,15 @@ DFNA51|C9DUPq21.11|DUP9q21.11 TJP2|NA|NA TJP2 Deafness, autosomal dominant 51 Au PRKACG|BDPLT19 PRKACG|NA PRKACG ?Bleeding disorder, platelet-type, 19 Autosomal recessive 176893 616176 9 mutation identified in 1 BDPLT19 family FXN|FRDA|FARR|X25 FXN|FXN|FXN|FXN FXN Friedreich ataxia with retained reflexes Autosomal recessive 606829 229300 9 NA FXN|FRDA|FARR|X25 FXN|FXN|FXN|FXN FXN Friedreich ataxia Autosomal recessive 606829 229300 9 NA -TJP2|ZO2|PFIC4 TJP2|TJP2|NA TJP2 Cholestasis, progressive familial intrahepatic 4 Autosomal recessive 607709 615878 9 NA TJP2|ZO2|PFIC4 TJP2|TJP2|NA TJP2 Hypercholanemia, familial None 607709 607748 9 NA +TJP2|ZO2|PFIC4 TJP2|TJP2|NA TJP2 Cholestasis, progressive familial intrahepatic 4 Autosomal recessive 607709 615878 9 NA MIR204|MIRN204|RDICC MIR204|MIR204|NA MIR204 ?Retinal dystrophy and iris coloboma with or without cataract Autosomal dominant 610942 616722 9 mutation identified in 1 RDICC family -TMC1|DFNB7|DFNB11|DFNA36 TMC1|TMC1|TMC1|TMC1 TMC1 Deafness, autosomal recessive 7 Autosomal recessive 606706 600974 9 NA TMC1|DFNB7|DFNB11|DFNA36 TMC1|TMC1|TMC1|TMC1 TMC1 Deafness, autosomal dominant 36 Autosomal dominant 606706 606705 9 NA +TMC1|DFNB7|DFNB11|DFNA36 TMC1|TMC1|TMC1|TMC1 TMC1 Deafness, autosomal recessive 7 Autosomal recessive 606706 600974 9 NA TRPM6|CHAK2|HOMG1 TRPM6|TRPM6|NA TRPM6 Hypomagnesemia 1, intestinal Autosomal recessive 607009 602014 9 NA VPS13A|CHAC VPS13A|VPS13A VPS13A Choreoacanthocytosis Autosomal recessive 605978 200150 9 NA -GNAQ|SWS|CMC1 GNAQ|NA|CMC1 CMC1,GNAQ Capillary malformations, congenital, 1, somatic, mosaic None 600998 163000 9 pseudogene on 2q GNAQ|SWS|CMC1 GNAQ|NA|CMC1 CMC1,GNAQ Sturge-Weber syndrome, somatic, mosaic None 600998 185300 9 pseudogene on 2q +GNAQ|SWS|CMC1 GNAQ|NA|CMC1 CMC1,GNAQ Capillary malformations, congenital, 1, somatic, mosaic None 600998 163000 9 pseudogene on 2q PSAT1|PSAT|EPIP|PSATD|NLS2 PSAT1|NA|NA|NA|NA PSAT1 Neu-Laxova syndrome 2 Autosomal recessive 610936 616038 9 mutation identified in 1 PSATD family PSAT1|PSAT|EPIP|PSATD|NLS2 PSAT1|NA|NA|NA|NA PSAT1 ?Phosphoserine aminotransferase deficiency Autosomal recessive 610936 610992 9 mutation identified in 1 PSATD family FHL1|HPLH1|HLH1 HPLH1,CFH,FHL1|HPLH1|NA HPLH1,FHL1,CFH Hemophagocytic lymphohistiocytosis, familial, 1 Autosomal recessive 267700 267700 9 NA @@ -2911,9 +2942,10 @@ NTRK2|TRKB NTRK2|NTRK2 NTRK2 ?Obesity, hyperphagia, and developmental delay None JOAG2 GLC1J GLC1J Glaucoma, primary open angle, juvenile-onset, 2 None 608695 608695 9 between D9S1803 and D9S196 SECISBP2|SBP2 SECISBP2|NA SECISBP2 Thyroid hormone metabolism, abnormal None 607693 609698 9 NA AUH AUH AUH 3-methylglutaconic aciduria, type I Autosomal recessive 600529 250950 9 NA -ROR2|BDB1|BDB|NTRKR2 ROR2,RORA|ROR2|ROR2|ROR2 ROR2,RORA Brachydactyly, type B1 Autosomal dominant 602337 113000 9 NA ROR2|BDB1|BDB|NTRKR2 ROR2,RORA|ROR2|ROR2|ROR2 ROR2,RORA Robinow syndrome, autosomal recessive Autosomal recessive 602337 268310 9 NA +ROR2|BDB1|BDB|NTRKR2 ROR2,RORA|ROR2|ROR2|ROR2 ROR2,RORA Brachydactyly, type B1 Autosomal dominant 602337 113000 9 NA SPTLC1|LBC1|SPT1|HSN1|HSAN SPTLC1|NA|NA|SPTLC1|NA SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA Autosomal dominant 605712 162400 9 NA +IARS|GRIDHH IARS|NA IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy Autosomal recessive 600709 617093 9 NA ASPN|PLAP1|OS3 ASPN|ASPN|NA ASPN Osteoarthritis susceptibility 3 Autosomal dominant 608135 607850 9 NA ASPN|PLAP1|OS3 ASPN|ASPN|NA ASPN Lumbar disc degeneration None 608135 603932 9 NA BICD2|KIAA0699|SMALED2 BICD2|BICD2|NA BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD Autosomal dominant 609797 615290 9 NA @@ -2928,7 +2960,7 @@ TDRD7|KIAA1529|TRAP|CATC4|CTRCT36 TDRD7|CCDC180|ACP5,CD40LG,SCYL1|NA|NA CCDC180, XPA|XPAC XPA|XPA XPA Xeroderma pigmentosum, group A Autosomal recessive 611153 278700 9 NA FOXE1|FKHL15|TITF2|TTF2|NMTC4 FOXE1|FOXE1|FOXE1|TTF2|NA TTF2,FOXE1 Thyroid cancer, nonmedullary, 4 Autosomal dominant 602617 616534 9 NA FOXE1|FKHL15|TITF2|TTF2|NMTC4 FOXE1|FOXE1|FOXE1|TTF2|NA TTF2,FOXE1 Bamforth-Lazarus syndrome Autosomal recessive 602617 241850 9 NA -NANS|SAS|SEMDG NANS|NANS,TSPAN31|NA NANS,TSPAN31 Spondyloepimetaphyseal dysplasia, Genevieve type Autosomal recessive 605202 610442 9 NA +NANS|SAS|SEMDCG NANS|NANS,TSPAN31|NA NANS,TSPAN31 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type Autosomal recessive 605202 610442 9 NA GPR51|GABBR2 GABBR2|GABBR2 GABBR2 Nicotine dependence, susceptibility to None 607340 188890 9 NA GPR51|GABBR2 GABBR2|GABBR2 GABBR2 Nicotine dependence, protection against None 607340 188890 9 NA ANKS6|PKDR1|NPHP16 ANKS6|NA|ANKS6 ANKS6 Nephronophthisis 16 Autosomal recessive 615370 615382 9 NA @@ -2941,19 +2973,19 @@ CSMF NR4A3 NR4A3 Chondrosarcoma, extraskeletal myxoid None 600542 612237 9 t(9;1 INVS|INV|NPHP2|NPH2 INVS|NA|INVS|NXPH2 NXPH2,INVS Nephronophthisis 2, infantile Autosomal recessive 243305 602088 9 NA BAAT BAAT BAAT Hypercholanemia, familial None 602938 607748 9 NA ALDOB ALDOB ALDOB Fructose intolerance Autosomal recessive 612724 229600 9 NA -ABCA1|ABC1|HDLDT1|TGD ABCA1|ABCA1,HEATR6|ABCA1|ABCA1 HEATR6,ABCA1 Coronary artery disease in familial hypercholesterolemia, protection against Autosomal dominant 600046 143890 9 NA ABCA1|ABC1|HDLDT1|TGD ABCA1|ABCA1,HEATR6|ABCA1|ABCA1 HEATR6,ABCA1 Tangier disease Autosomal recessive 600046 205400 9 NA ABCA1|ABC1|HDLDT1|TGD ABCA1|ABCA1,HEATR6|ABCA1|ABCA1 HEATR6,ABCA1 HDL deficiency, type 2 None 600046 604091 9 NA -FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 Autosomal recessive 607440 611588 9 NA -FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Autosomal recessive 607440 613152 9 NA +ABCA1|ABC1|HDLDT1|TGD ABCA1|ABCA1,HEATR6|ABCA1|ABCA1 HEATR6,ABCA1 Coronary artery disease in familial hypercholesterolemia, protection against Autosomal dominant 600046 143890 9 NA FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive 607440 253800 9 NA FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Cardiomyopathy, dilated, 1X Autosomal recessive 607440 611615 9 NA +FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 Autosomal recessive 607440 611588 9 NA +FKTN|FCMD|CMD1X|LGMD2M|MDDGA4|MDDGB4|MDDGC4 FKTN|FKTN|NA|FKTN|NA|NA|NA FKTN Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Autosomal recessive 607440 613152 9 NA TAL2 TAL2 TAL2 Leukemia, T-cell acute lymphocytic, somatic None 186855 613065 9 33kb from breakpoint in t(7;9) TMEM38B|TRICB|OI14 TMEM38B|NA|NA TMEM38B Osteogenesis imperfecta, type XIV None 611236 615066 9 NA IKBKAP|IKAP IKBKAP|IKBKAP IKBKAP Dysautonomia, familial Autosomal recessive 603722 223900 9 NA FRRS1L|C9orf4|CG6|EIEE37 FRRS1L|FRRS1L|NA|NA FRRS1L Epileptic encephalopathy, early infantile, 37 Autosomal recessive 604574 616981 9 NA -MUSK|CMS9|FADS MUSK|NA|NA MUSK Fetal akinesia deformation sequence Autosomal recessive 601296 208150 9 NA MUSK|CMS9|FADS MUSK|NA|NA MUSK Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency Autosomal recessive 601296 616325 9 NA +MUSK|CMS9|FADS MUSK|NA|NA MUSK Fetal akinesia deformation sequence Autosomal recessive 601296 208150 9 NA ARMD10 TLR4 TLR4 Macular degeneration, age-related, 10 None 611488 611488 9 NA PRPF4|PRP4|HPRP4|RP70 PRPF4|PRPF4|PRPF4|NA PRPF4 Retinitis pigmentosa 70 Autosomal dominant 607795 615922 9 NA ALAD|ALADH|PBGS ALAD|ALAD|ALAD ALAD Lead poisoning, susceptibility to Autosomal recessive 125270 612740 9 linked to ABO; ORM-ALAD-AK-ABO @@ -2963,8 +2995,8 @@ WHRN|CIP98|KIAA1526|DFNB31|USH2D DFNB31|DFNB31|NA|DFNB31|DFNB31 DFNB31 Usher syn WHRN|CIP98|KIAA1526|DFNB31|USH2D DFNB31|DFNB31|NA|DFNB31|DFNB31 DFNB31 Deafness, autosomal recessive 31 Autosomal recessive 607928 607084 9 NA TNC|HXB|DFNA56 TNC|TNC|TNC TNC Deafness, autosomal dominant 56 Autosomal dominant 187380 615629 9 proximal to ABL DEC1 BHLHE40,DEC1 BHLHE40,DEC1 Esophageal squamous cell carcinoma Autosomal dominant 604767 133239 9 NA -TRIM32|HT2A|LGMD2H|BBS11 TRIM32|TRIM32|TRIM32|TRIM32 TRIM32 Muscular dystrophy, limb-girdle, type 2H Autosomal recessive 602290 254110 9 mutation identified in 1 BBS11 family TRIM32|HT2A|LGMD2H|BBS11 TRIM32|TRIM32|TRIM32|TRIM32 TRIM32 ?Bardet-Biedl syndrome 11 Autosomal recessive 602290 615988 9 mutation identified in 1 BBS11 family +TRIM32|HT2A|LGMD2H|BBS11 TRIM32|TRIM32|TRIM32|TRIM32 TRIM32 Muscular dystrophy, limb-girdle, type 2H Autosomal recessive 602290 254110 9 mutation identified in 1 BBS11 family CDK5RAP2|KIAA1633|MCPH3 CDK5RAP2|NA|CDK5RAP2 CDK5RAP2 Microcephaly 3, primary, autosomal recessive Autosomal recessive 608201 604804 9 NA C5|C5D|ECLZB C5|NA|NA C5 Eculizumab, poor response to Autosomal dominant 120900 615749 9 NA C5|C5D|ECLZB C5|NA|NA C5 C5 deficiency None 120900 609536 9 NA @@ -2998,21 +3030,20 @@ ASS1|ASS ASS1|ASS1 ASS1 Citrullinemia Autosomal recessive 603470 215700 9 14 pse PRDM12|HSAN8 PRDM12|NA PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII Autosomal recessive 616458 616488 9 NA ABL1 ABL1 ABL1 Leukemia, Philadelphia chromosome-positive, resistant to imatinib None 189980 NA 9 fusion hybrid gene with BCR1 in CML LAMC3|OCCM LAMC3|NA LAMC3 Cortical malformations, occipital Autosomal recessive 604349 614115 9 NA -NUP214|D9S46E|CAN|CAIN NUP214|NUP214|NUP214|NUP214 NUP214 Leukemia, T-cell acute lymphoblastic, somatic None 114350 613065 9 fused with DEK in AML; fused with ABL1 in T-ALL NUP214|D9S46E|CAN|CAIN NUP214|NUP214|NUP214|NUP214 NUP214 Leukemia, acute myeloid, somatic None 114350 601626 9 fused with DEK in AML; fused with ABL1 in T-ALL -POMT1|MDDGA1|MDDGB1|MDDGC1 POMT1|NA|NA|NA POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Autosomal recessive 607423 236670 9 NA +NUP214|D9S46E|CAN|CAIN NUP214|NUP214|NUP214|NUP214 NUP214 Leukemia, T-cell acute lymphoblastic, somatic None 114350 613065 9 fused with DEK in AML; fused with ABL1 in T-ALL POMT1|MDDGA1|MDDGB1|MDDGC1 POMT1|NA|NA|NA POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 Autosomal recessive 607423 609308 9 NA POMT1|MDDGA1|MDDGB1|MDDGC1 POMT1|NA|NA|NA POMT1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Autosomal recessive 607423 613155 9 NA +POMT1|MDDGA1|MDDGB1|MDDGC1 POMT1|NA|NA|NA POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Autosomal recessive 607423 236670 9 NA SETX|SCAR1|AOA2|ALS4 SETX|SETX,WASF1|SETX|SETX SETX,WASF1 Spinocerebellar ataxia, autosomal recessive 1 Autosomal recessive 608465 606002 9 NA SETX|SCAR1|AOA2|ALS4 SETX|SETX,WASF1|SETX|SETX SETX,WASF1 Amyotrophic lateral sclerosis 4, juvenile Autosomal dominant 608465 602433 9 NA -TSC1|LAM TSC1|TSC1,TSC2 TSC2,TSC1 Focal cortical dysplasia, Taylor balloon cell type Isolated cases 605284 607341 9 linked to ABO, ABL -TSC1|LAM TSC1|TSC1,TSC2 TSC2,TSC1 Tuberous sclerosis-1 Autosomal dominant 605284 191100 9 linked to ABO, ABL TSC1|LAM TSC1|TSC1,TSC2 TSC2,TSC1 Lymphangioleiomyomatosis None 605284 606690 9 linked to ABO, ABL +TSC1|LAM TSC1|TSC1,TSC2 TSC2,TSC1 Tuberous sclerosis-1 Autosomal dominant 605284 191100 9 linked to ABO, ABL GFI1B|BDPLT17 GFI1B|NA GFI1B Bleeding disorder, platelet-type, 17 Autosomal dominant 604383 187900 9 NA CEL|BSSL|CELL|MODY8 CEL|CEL|CELP|CEL CEL,CELP Maturity-onset diabetes of the young, type VIII Autosomal dominant 114840 609812 9 NA ABO ABO ABO Blood group, ABO system None 110300 616093 9 linked to AK1 -SURF1|CMT4K SURF1|NA SURF1 Charcot-Marie-Tooth disease, type 4K Autosomal recessive 185620 616684 9 distal to ABL, CAN SURF1|CMT4K SURF1|NA SURF1 Leigh syndrome, due to COX IV deficiency Mitochondrial; Autosomal recessive 185620 256000 9 distal to ABL, CAN +SURF1|CMT4K SURF1|NA SURF1 Charcot-Marie-Tooth disease, type 4K Autosomal recessive 185620 616684 9 distal to ABL, CAN ADAMTS13|VWFCP|TTP ADAMTS13|ADAMTS13|ADAMTS13,ZFP36 ADAMTS13,ZFP36 Thrombotic thrombocytopenic purpura, familial Autosomal recessive 604134 274150 9 NA ADAMTSL2|KIAA0605|GPHYSD1 ADAMTSL2|ADAMTSL2|NA ADAMTSL2 Geleophysic dysplasia 1 Autosomal recessive 612277 231050 9 NA DBH DBH DBH Dopamine-beta-hydroxylase activity levels, plasma None 609312 NA 9 tightly linked to ABO @@ -3024,8 +3055,8 @@ KCNT1|KIAA1422|EIEE14|ENFL5 KCNT1|KCNT1|NA|NA KCNT1 Epilepsy, nocturnal frontal LHX3|CPHD3 LHX3|NA LHX3 Pituitary hormone deficiency, combined, 3 Autosomal recessive 600577 221750 9 in mouse, close to Notch1; centromeric to ABL CARD9|CANDF2 CARD9|NA CARD9 Candidiasis, familial, 2, autosomal recessive Autosomal recessive 607212 212050 9 NA PMPCA|KIAA0123|SCAR2 PMPCA|PMPCA|SCAR2,WASF2 SCAR2,WASF2,PMPCA Spinocerebellar ataxia, autosomal recessive 2 Autosomal recessive 613036 213200 9 NA -INPP5E|MORMS|JBTS1|CORS1 INPP5E,PMPCA|NA|INPP5E|INPP5E INPP5E,PMPCA Mental retardation, truncal obesity, retinal dystrophy, and micropenis Autosomal recessive 613037 610156 9 NA INPP5E|MORMS|JBTS1|CORS1 INPP5E,PMPCA|NA|INPP5E|INPP5E INPP5E,PMPCA Joubert syndrome 1 Autosomal recessive 613037 213300 9 NA +INPP5E|MORMS|JBTS1|CORS1 INPP5E,PMPCA|NA|INPP5E|INPP5E INPP5E,PMPCA Mental retardation, truncal obesity, retinal dystrophy, and micropenis Autosomal recessive 613037 610156 9 NA NOTCH1|TAN1|AOS5|AOVD1 NOTCH1|NOTCH1|NA|NA NOTCH1 Aortic valve disease 1 Autosomal dominant 190198 109730 9 NA NOTCH1|TAN1|AOS5|AOVD1 NOTCH1|NOTCH1|NA|NA NOTCH1 Adams-Oliver syndrome 5 Autosomal dominant 190198 616028 9 NA AGPAT2|LPAAB|BSCL|BSCL1 AGPAT2|NA|AGPAT2|NA AGPAT2 Lipodystrophy, congenital generalized, type 1 Autosomal recessive 603100 608594 9 NA @@ -3034,26 +3065,26 @@ GRIN1|NMDAR1|MRD8 GPRIN1,GRIN1|GRIN1|NA GRIN1,GPRIN1 Mental retardation, autosom TPRN|C9orf75|DFNB79 TPRN|TPRN|TPRN TPRN Deafness, autosomal recessive 79 Autosomal recessive 613354 613307 9 NA SLC34A3|NPTIIC|HHRH SLC34A3|NA|NA SLC34A3 Hypophosphatemic rickets with hypercalciuria Autosomal recessive 609826 241530 9 NA NSMF|NELF|HH9 NSMF|NSMF|NA NSMF Hypogonadotropic hypogonadism 9 with or without anosmia None 608137 614838 9 NA -EHMT1|EUHMTASE1|DEL9q34 EHMT1|NA|NA EHMT1 Kleefstra syndrome Autosomal dominant; Isolated cases 607001 610253 9 NA +EHMT1|EUHMTASE1|DEL9q34 EHMT1|NA|NA EHMT1 Kleefstra syndrome Autosomal dominant 607001 610253 9 NA CACNA1B|CACNL1A5|DYT23 CACNA1B|CACNA1B|ANO3 CACNA1B,ANO3 ?Dystonia 23 Autosomal dominant 601012 614860 9 mutation identified in 1 DYT23 family ST12|PAC1 KLF6|ADCYAP1R1,KLF6,PSMG1 KLF6,ADCYAP1R1,PSMG1 Prostate adenocarcinoma None 601188 601188 10 NA TUBB8|OOMD2 TUBB8|NA TUBB8 Oocyte maturation defect 2 Autosomal dominant 616768 616780 10 NA ZMYND11|BS69|BRAM1|MRD30 ZMYND11|ZMYND11|NA|NA ZMYND11 Mental retardation, autosomal dominant 30 Autosomal dominant 608668 616083 10 NA -KLF6|COPEB|BCD1|ZF9 KLF6|KLF6|KLF6,ZNHIT6|NA KLF6,ZNHIT6 Prostate cancer, somatic None 602053 176807 10 NA KLF6|COPEB|BCD1|ZF9 KLF6|KLF6|KLF6,ZNHIT6|NA KLF6,ZNHIT6 Gastric cancer, somatic None 602053 613659 10 NA +KLF6|COPEB|BCD1|ZF9 KLF6|KLF6|KLF6,ZNHIT6|NA KLF6,ZNHIT6 Prostate cancer, somatic None 602053 176807 10 NA MS2 ADAM8 ADAM8 Multiple sclerosis, susceptibility to, 2 None 612594 612594 10 associated with rs12722489 and rs2104286 AKR1C2|DDH2|DD2|HAKRD|SRXY8 AKR1C2|AKR1C2|AKR1C2|AKR1C2|NA AKR1C2 Obesity, hyperphagia, and developmental delay None 600450 NA 10 NA AKR1C2|DDH2|DD2|HAKRD|SRXY8 AKR1C2|AKR1C2|AKR1C2|AKR1C2|NA AKR1C2 46XY sex reversal 8 Autosomal recessive 600450 614279 10 NA AKR1C4|CHDR|CDR|HAKRA|DD4 AKR1C4|AKR1C4|AKR1C4,CDR1,RUNX1T1|AKR1C4|AKR1C4 AKR1C4,CDR1,RUNX1T1 46XY sex reversal 8, modifier of Autosomal recessive 600451 614279 10 NA -IL2RA|CD25|IL2R|IDDM10|IMD41 IL2RA|IL2RA,ISG20|IL2RA|IL2RA|NA ISG20,IL2RA Diabetes, mellitus, insulin-dependent, susceptibility to, 10 None 147730 601942 10 NA IL2RA|CD25|IL2R|IDDM10|IMD41 IL2RA|IL2RA,ISG20|IL2RA|IL2RA|NA ISG20,IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity Autosomal recessive 147730 606367 10 NA +IL2RA|CD25|IL2R|IDDM10|IMD41 IL2RA|IL2RA,ISG20|IL2RA|IL2RA|NA ISG20,IL2RA Diabetes, mellitus, insulin-dependent, susceptibility to, 10 None 147730 601942 10 NA DGCR2|DGS2 DGCR2|NA DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 None 601362 601362 10 NA GATA3|HDR|HDRS GATA3|GATA3|NA GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia Autosomal dominant 131320 146255 10 NA -DHTKD1|KIAA1630|AMOXAD|CMT2Q DHTKD1|DHTKD1|NA|NA DHTKD1 2-aminoadipic 2-oxoadipic aciduria Autosomal recessive 614984 204750 10 mutation identified in 1 CMT2Q family DHTKD1|KIAA1630|AMOXAD|CMT2Q DHTKD1|DHTKD1|NA|NA DHTKD1 ?Charcot-Marie-Tooth disease, axonal, type 2Q Autosomal dominant 614984 615025 10 mutation identified in 1 CMT2Q family +DHTKD1|KIAA1630|AMOXAD|CMT2Q DHTKD1|DHTKD1|NA|NA DHTKD1 2-aminoadipic 2-oxoadipic aciduria Autosomal recessive 614984 204750 10 mutation identified in 1 CMT2Q family +OPTN|GLC1E|FIP2|HYPL|NRP|ALS12 OPTN|OPTN|OPTN|OPTN|NAP1L1,NRP1,OPTN|NA NAP1L1,OPTN,NRP1 Glaucoma, normal tension, susceptibility to None 602432 606657 10 NA OPTN|GLC1E|FIP2|HYPL|NRP|ALS12 OPTN|OPTN|OPTN|OPTN|NAP1L1,NRP1,OPTN|NA NAP1L1,OPTN,NRP1 Glaucoma 1, open angle, E Autosomal dominant 602432 137760 10 NA OPTN|GLC1E|FIP2|HYPL|NRP|ALS12 OPTN|OPTN|OPTN|OPTN|NAP1L1,NRP1,OPTN|NA NAP1L1,OPTN,NRP1 Amyotrophic lateral sclerosis 12 None 602432 613435 10 NA -OPTN|GLC1E|FIP2|HYPL|NRP|ALS12 OPTN|OPTN|OPTN|OPTN|NAP1L1,NRP1,OPTN|NA NAP1L1,OPTN,NRP1 Glaucoma, normal tension, susceptibility to None 602432 606657 10 NA PHYH|PAHX PHYH|PHYH PHYH Refsum disease Autosomal recessive 602026 266500 10 NA FRMD4A|KIAA1294|CCAFCA FRMD4A|FRMD4A|NA FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia Autosomal recessive 616305 616819 10 mutation identified in 1 CCAFCA family DCLRE1C|ARTEMIS|SCIDA DCLRE1C|DCLRE1C|DCLRE1C DCLRE1C Severe combined immunodeficiency, Athabascan type Autosomal recessive 605988 602450 10 NA @@ -3063,8 +3094,8 @@ CUBN|IFCR|MGA1 CUBN|CUBN|CUBN CUBN Megaloblastic anemia-1, Finnish type Autosoma VIM|CTRCT30 VIM|NA VIM ?Cataract 30, pulverulent Autosomal dominant 193060 116300 10 mutation identified in 1 CTRCT30 patient CACNB2 CACNB2 CACNB2 Brugada syndrome 4 None 600003 611876 10 NA AF10 MLLT10 MLLT10 Leukemia, acute myeloid Autosomal dominant 602409 601626 10 fuses with MLL and HEAB -PTF1A|PACA|PAGEN2 PTF1A|NA|NA PTF1A Pancreatic agenesis 2 Autosomal recessive 607194 615935 10 NA PTF1A|PACA|PAGEN2 PTF1A|NA|NA PTF1A Pancreatic and cerebellar agenesis Autosomal recessive 607194 609069 10 NA +PTF1A|PACA|PAGEN2 PTF1A|NA|NA PTF1A Pancreatic agenesis 2 Autosomal recessive 607194 615935 10 NA MYO3A|DFNB30 MYO3A|MYO3A MYO3A Deafness, autosomal recessive 30 Autosomal recessive 606808 607101 10 NA PDSS1|TPT|COQ1|COQ10D2 PDSS1|PDSS1,SHH|PDSS1|NA SHH,PDSS1 Coenzyme Q10 deficiency, primary, 2 Autosomal recessive 607429 614651 10 NA ANKRD26|KIAA1074|THC2 ANKRD26|ANKRD26|ANKRD26,MASTL ANKRD26,MASTL Thrombocytopenia 2 Autosomal dominant 610855 188000 10 NA @@ -3079,43 +3110,43 @@ ZEB1|TCF8|NIL2A|PPCD3|FECD6 ZEB1|ZEB1|NA|ZEB1|ZEB1 ZEB1 Corneal dystrophy, poste ZEB1|TCF8|NIL2A|PPCD3|FECD6 ZEB1|ZEB1|NA|ZEB1|ZEB1 ZEB1 Corneal dystrophy, Fuchs endothelial, 6 None 189909 613270 10 NA USH1K USH1K USH1K Usher syndrome, type IK Autosomal recessive 614990 614990 10 max lod at D10S539 BMS1|BMS1L|KIAA0187|ACC BMS1|BMS1|BMS1|ACACA BMS1,ACACA ?Aplasia cutis congenita, nonsyndromic Autosomal dominant; Autosomal recessive 611448 107600 10 mutation identified in one ACC family -RET|MEN2A|HSCR1 RET|RET|RET RET Pheochromocytoma Autosomal dominant 164761 171300 10 NA -RET|MEN2A|HSCR1 RET|RET|RET RET Multiple endocrine neoplasia IIB Autosomal dominant 164761 162300 10 NA -RET|MEN2A|HSCR1 RET|RET|RET RET Multiple endocrine neoplasia IIA Autosomal dominant 164761 171400 10 NA RET|MEN2A|HSCR1 RET|RET|RET RET Medullary thyroid carcinoma Autosomal dominant 164761 155240 10 NA RET|MEN2A|HSCR1 RET|RET|RET RET Central hypoventilation syndrome, congenital Autosomal dominant 164761 209880 10 NA RET|MEN2A|HSCR1 RET|RET|RET RET Hirschsprung disease, susceptibility to, 1 Autosomal dominant 164761 142623 10 NA +RET|MEN2A|HSCR1 RET|RET|RET RET Pheochromocytoma Autosomal dominant 164761 171300 10 NA +RET|MEN2A|HSCR1 RET|RET|RET RET Multiple endocrine neoplasia IIB Autosomal dominant 164761 162300 10 NA +RET|MEN2A|HSCR1 RET|RET|RET RET Multiple endocrine neoplasia IIA Autosomal dominant 164761 171400 10 NA CXCL12|SDF1 CXCL12|CXCL12 CXCL12 AIDS, resistance to None 600835 609423 10 NA -ALOX5 ALOX5 ALOX5 Atherosclerosis, susceptibility to None 152390 NA 10 NA ALOX5 ALOX5 ALOX5 Asthma, diminished response to antileukotriene treatment in Autosomal dominant 152390 600807 10 NA +ALOX5 ALOX5 ALOX5 Atherosclerosis, susceptibility to None 152390 NA 10 NA MSMB|HPC13 MSMB|NA MSMB Prostate cancer, hereditary, 13 None 157145 611928 10 NA GDF2|BMP9|HHT5 GDF2|GDF2|NA GDF2 Telangiectasia, hereditary hemorrhagic, type 5 Autosomal dominant 605120 615506 10 NA RBP3|RP66 E2F1,RBP3|ARL2BP,RBP3 ARL2BP,RBP3,E2F1 ?Retinitis pigmentosa 66 Autosomal recessive 180290 615233 10 1 family identified with mutation +ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Macular degeneration, age-related, susceptibility to 5 None 609413 613761 10 NA +ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Cerebrooculofacioskeletal syndrome 1 Autosomal recessive 609413 214150 10 NA +ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Lung cancer, susceptibility to Autosomal recessive 609413 211980 10 NA ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 UV-sensitive syndrome 1 Autosomal recessive 609413 600630 10 NA ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Premature ovarian failure 11 Autosomal dominant 609413 616946 10 NA ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 De Sanctis-Cacchione syndrome Autosomal recessive 609413 278800 10 NA ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Cockayne syndrome, type B Autosomal recessive 609413 133540 10 NA -ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Macular degeneration, age-related, susceptibility to 5 None 609413 613761 10 NA -ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Cerebrooculofacioskeletal syndrome 1 Autosomal recessive 609413 214150 10 NA -ERCC6|CKN2|COFS1|CSB|ARMD5|UVSS1|POF11 ERCC6|ERCC6|NA|CSH2,ERCC6|ERCC6|NA|NA CSH2,ERCC6 Lung cancer, susceptibility to Autosomal recessive 609413 211980 10 NA CHAT|CMS6 CHAT|NA CHAT Myasthenic syndrome, congenital, 6, presynaptic Autosomal recessive 118490 254210 10 NA PRKG1|PRKG1B|PRKGR1B|AAT8 PRKG1|PRKG1|PRKG1|NA PRKG1 Aortic aneurysm, familial thoracic 8 Autosomal dominant 176894 615436 10 NA MYP15 MYP15 MYP15 Myopia 15 Autosomal dominant 612717 612717 10 max lod at D10S1643 MBL2|MBL|MBP1|MBL2D|MBPD MBL2|MBL2,MBL3P|NA|NA|NA MBL3P,MBL2 Chronic infections, due to MBL deficiency Autosomal dominant 154545 614372 10 near MEN2A -PCDH15|DFNB23|USH1F PCDH15|PCDH15|PCDH15 PCDH15 Usher syndrome, type 1F Autosomal recessive 605514 602083 10 NA PCDH15|DFNB23|USH1F PCDH15|PCDH15|PCDH15 PCDH15 Usher syndrome, type 1D/F digenic Digenic recessive; Autosomal recessive 605514 601067 10 NA PCDH15|DFNB23|USH1F PCDH15|PCDH15|PCDH15 PCDH15 Deafness, autosomal recessive 23 Autosomal recessive 605514 609533 10 NA +PCDH15|DFNB23|USH1F PCDH15|PCDH15|PCDH15 PCDH15 Usher syndrome, type 1F Autosomal recessive 605514 602083 10 NA BICC1|BICC|CYSRD BICC1|NA|NA BICC1 Renal dysplasia, cystic, susceptibility to Autosomal dominant 614295 601331 10 NA ANK3|MRT37 ANK3|NA ANK3 ?Mental retardation, autosomal recessive, 37 Autosomal recessive 600465 615493 10 mutation identified in 1 family ZNF365|UAN ZNF365|ZNF365 ZNF365 Nephrolithiasis, uric acid, susceptibility to None 607818 605990 10 NA HCFP2 MBS3 MBS3 Facial paresis, hereditary congenital, 2 Autosomal dominant 604185 604185 10 NA +EGR2|KROX20 EGR2|EGR2 EGR2 Neuropathy, congenital hypomyelinating, 1 Autosomal dominant; Autosomal recessive 129010 605253 10 NA EGR2|KROX20 EGR2|EGR2 EGR2 Dejerine-Sottas disease Autosomal dominant; Autosomal recessive 129010 145900 10 NA EGR2|KROX20 EGR2|EGR2 EGR2 Charcot-Marie-Tooth disease, type 1D Autosomal dominant 129010 607678 10 NA -EGR2|KROX20 EGR2|EGR2 EGR2 Neuropathy, congenital hypomyelinating, 1 Autosomal dominant; Autosomal recessive 129010 605253 10 NA CTNNA3|ARVD13 CTNNA3|NA CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13 Autosomal dominant 607667 615616 10 NA -MYPN|CMD1DD|CMH22|RCM4 MYPN|NA|NA|NA MYPN Cardiomyopathy, hypertrophic, 22 Autosomal dominant 608517 615248 10 NA MYPN|CMD1DD|CMH22|RCM4 MYPN|NA|NA|NA MYPN Cardiomyopathy, familial restrictive, 4 Autosomal dominant 608517 615248 10 NA MYPN|CMD1DD|CMH22|RCM4 MYPN|NA|NA|NA MYPN Cardiomyopathy, dilated, 1KK Autosomal dominant 608517 615248 10 NA +MYPN|CMD1DD|CMH22|RCM4 MYPN|NA|NA|NA MYPN Cardiomyopathy, hypertrophic, 22 Autosomal dominant 608517 615248 10 NA ATOH7|PHPVAR|NCRNA ATOH7|NA|NA ATOH7 Persistent hyperplastic primary vitreous, autosomal recessive Autosomal recessive 609875 221900 10 NA DNA2|DNA2L|KIAA0083|PEOA6|SCKL8 DNA2|DNA2|DNA2|NA|NA DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 Autosomal dominant 601810 615156 10 mutation identified in 1 SCKL8 family DNA2|DNA2L|KIAA0083|PEOA6|SCKL8 DNA2|DNA2|DNA2|NA|NA DNA2 ?Seckel syndrome 8 Autosomal recessive 601810 615807 10 mutation identified in 1 SCKL8 family @@ -3123,30 +3154,30 @@ MRT8 MRT8 MRT8 Mental retardation, autosomal recessive, 8 None 611094 611094 10 SPG27 SPG27 SPG27 Spastic paraplegia 27, autosomal recessive Autosomal recessive 609041 609041 10 between D10S606 and D10S1758 STOX1|PEE4 STOX1|NA STOX1 Preeclampsia/eclampsia 4 None 609397 609404 10 NA KIAA1279 KIAA1279 KIAA1279 Goldberg-Shprintzen megacolon syndrome Autosomal recessive 609367 609460 10 NA -HK1|HKD|HMSNR HK1,HOOK1,KCNA4|NA|NA KCNA4,HK1,HOOK1 Neuropathy, hereditary motor and sensory, Russe type Autosomal recessive 142600 605285 10 10p11.2 conflicting assignment; ?2 loci on chr.10 HK1|HKD|HMSNR HK1,HOOK1,KCNA4|NA|NA KCNA4,HK1,HOOK1 Hemolytic anemia due to hexokinase deficiency Autosomal recessive 142600 235700 10 10p11.2 conflicting assignment; ?2 loci on chr.10 +HK1|HKD|HMSNR HK1,HOOK1,KCNA4|NA|NA KCNA4,HK1,HOOK1 Neuropathy, hereditary motor and sensory, Russe type Autosomal recessive 142600 605285 10 10p11.2 conflicting assignment; ?2 loci on chr.10 NEUROG3|NGN3|ATOH5 NEUROG3|NA|NA NEUROG3 Diarrhea 4, malabsorptive, congenital Autosomal recessive 604882 610370 10 NA COL13A1|CMS19 COL13A1|NA COL13A1 Myasthenic syndrome, congenital, 19 Autosomal recessive 120350 616720 10 ~550kb proximal to P4HA NODAL|HTX5 NODAL|NA NODAL Heterotaxy, visceral, 5 Autosomal dominant 601265 270100 10 NA +PRF1|HPLH2|FLH2 PRF1|PRF1|NA PRF1 Lymphoma, non-Hodgkin None 170280 605027 10 mistakenly assigned to chr.17 PRF1|HPLH2|FLH2 PRF1|PRF1|NA PRF1 Hemophagocytic lymphohistiocytosis, familial, 2 Autosomal recessive 170280 603553 10 mistakenly assigned to chr.17 PRF1|HPLH2|FLH2 PRF1|PRF1|NA PRF1 Aplastic anemia None 170280 609135 10 mistakenly assigned to chr.17 -PRF1|HPLH2|FLH2 PRF1|PRF1|NA PRF1 Lymphoma, non-Hodgkin None 170280 605027 10 mistakenly assigned to chr.17 PCBD1|DCOH PCBD1|PCBD1 PCBD1 Hyperphenylalaninemia, BH4-deficient, D Autosomal recessive 126090 264070 10 NA SLC29A3|ENT3|PHID|HCLAP SLC29A3|SLC29A3|NA|NA SLC29A3 Histiocytosis-lymphadenopathy plus syndrome Autosomal recessive 612373 602782 10 NA CDH23|USH1D CDH23|CDH23 CDH23 Usher syndrome, type 1D/F digenic Digenic recessive; Autosomal recessive 605516 601067 10 between D10S529 and D10S573 CDH23|USH1D CDH23|CDH23 CDH23 Usher syndrome, type 1D Digenic recessive; Autosomal recessive 605516 601067 10 between D10S529 and D10S573 CDH23|USH1D CDH23|CDH23 CDH23 Deafness, autosomal recessive 12 Autosomal recessive 605516 601386 10 between D10S529 and D10S573 +PSAP|SAP1 MTCH1,PSAP|DEFB4A,ELK4,PSAP ELK4,PSAP,DEFB4A,MTCH1 Combined SAP deficiency Autosomal recessive 176801 611721 10 NA PSAP|SAP1 MTCH1,PSAP|DEFB4A,ELK4,PSAP ELK4,PSAP,DEFB4A,MTCH1 Metachromatic leukodystrophy due to SAP-b deficiency Autosomal recessive 176801 249900 10 NA PSAP|SAP1 MTCH1,PSAP|DEFB4A,ELK4,PSAP ELK4,PSAP,DEFB4A,MTCH1 Krabbe disease, atypical Autosomal recessive 176801 611722 10 NA PSAP|SAP1 MTCH1,PSAP|DEFB4A,ELK4,PSAP ELK4,PSAP,DEFB4A,MTCH1 Gaucher disease, atypical None 176801 610539 10 NA -PSAP|SAP1 MTCH1,PSAP|DEFB4A,ELK4,PSAP ELK4,PSAP,DEFB4A,MTCH1 Combined SAP deficiency Autosomal recessive 176801 611721 10 NA CHST3|C6ST|C6ST1|HSD CHST3|CHST1,CHST2,CHST3|CHST3|NA CHST1,CHST3,CHST2 Spondyloepiphyseal dysplasia with congenital joint dislocations Autosomal recessive 603799 143095 10 NA -ASCC1|p50|SMABF2 ASCC1|CD40,NFKB1|NA NFKB1,ASCC1,CD40 Barrett esophagus/esophageal adenocarcinoma None 614215 614266 10 mutation identified in 1 SMABF2 family ASCC1|p50|SMABF2 ASCC1|CD40,NFKB1|NA NFKB1,ASCC1,CD40 ?Spinal muscular atrophy with congenital bone fractures 2 Autosomal recessive 614215 616867 10 mutation identified in 1 SMABF2 family +ASCC1|p50|SMABF2 ASCC1|CD40,NFKB1|NA NFKB1,ASCC1,CD40 Barrett esophagus/esophageal adenocarcinoma None 614215 614266 10 mutation identified in 1 SMABF2 family MICU1|CBARA1|MPXPS MICU1|MICU1|NA MICU1 Myopathy with extrapyramidal signs Autosomal recessive 605084 615673 10 NA MRPS16|COXPD2 MRPS16|NA MRPS16 Combined oxidative phosphorylation deficiency 2 Autosomal recessive 609204 610498 10 NA -PLAU|URK|QPD|BDPLT5 PLAU|PLAU|NA|NA PLAU Alzheimer disease, late-onset, susceptibility to Autosomal dominant 191840 104300 10 proximal to HOX11 PLAU|URK|QPD|BDPLT5 PLAU|PLAU|NA|NA PLAU Quebec platelet disorder Autosomal dominant 191840 601709 10 proximal to HOX11 +PLAU|URK|QPD|BDPLT5 PLAU|PLAU|NA|NA PLAU Alzheimer disease, late-onset, susceptibility to Autosomal dominant 191840 104300 10 proximal to HOX11 VCL|CMD1W|CMH15 VCL|NA|NA VCL Cardiomyopathy, hypertrophic, 15 None 193065 613255 10 NA VCL|CMD1W|CMH15 VCL|NA|NA VCL Cardiomyopathy, dilated, 1W None 193065 611407 10 NA ADK ADK ADK Hypermethioninemia due to adenosine kinase deficiency Autosomal recessive 102750 614300 10 NA @@ -3164,17 +3195,21 @@ MAT1A|MATA1|SAMS1 MAT1A|MAT1A|MAT1A MAT1A Hypermethioninemia, persistent, autoso CDHR1|PCDH21|PRCAD|CORD15|RP65 CDHR1|CDHR1|NA|CDHR1|CDHR1 CDHR1 Retinitis pigmentosa 65 Autosomal recessive 609502 613660 10 NA CDHR1|PCDH21|PRCAD|CORD15|RP65 CDHR1|CDHR1|NA|CDHR1|CDHR1 CDHR1 Cone-rod dystrophy 15 Autosomal recessive 609502 613660 10 NA RGR|RP44 RGR|RGR RGR Retinitis pigmentosa 44 None 600342 613769 10 NA -LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Myopathy, myofibrillar, 4 Autosomal dominant 605906 609452 10 NA -LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Left ventricular noncompaction 3 Autosomal dominant 605906 601493 10 NA LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Cardiomyopathy, hypertrophic, 24 Autosomal dominant 605906 601493 10 NA LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC Autosomal dominant 605906 601493 10 NA -BMPR1A|ACVRLK3|ALK3 BMPR1A|BMPR1A|BMPR1A BMPR1A Juvenile polyposis syndrome, infantile form Autosomal dominant 601299 174900 10 NA +LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Myopathy, myofibrillar, 4 Autosomal dominant 605906 609452 10 NA +LDB3|ZASP|CYPHER|KIAA01613|MFM4|CMD1C|CMH24|LVNC3 LDB3|LDB3|NA|NA|NA|LDB3|NA|NA LDB3 Left ventricular noncompaction 3 Autosomal dominant 605906 601493 10 NA BMPR1A|ACVRLK3|ALK3 BMPR1A|BMPR1A|BMPR1A BMPR1A Polyposis, juvenile intestinal Autosomal dominant 601299 174900 10 NA BMPR1A|ACVRLK3|ALK3 BMPR1A|BMPR1A|BMPR1A BMPR1A Polyposis syndrome, hereditary mixed, 2 None 601299 610069 10 NA +BMPR1A|ACVRLK3|ALK3 BMPR1A|BMPR1A|BMPR1A BMPR1A Juvenile polyposis syndrome, infantile form Autosomal dominant 601299 174900 10 NA GLUD1 GLUD1 GLUD1 Hyperinsulinism-hyperammonemia syndrome Autosomal dominant 138130 606762 10 pseudogene on Xq26-q28 MINPP1|HIPER1 MINPP1|NA MINPP1 Thyroid carcinoma, follicular Autosomal dominant 605391 188470 10 NA PAPSS2|ATPSK2|BCYM4 PAPSS2|PAPSS2|NA PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes Autosomal recessive 603005 612847 10 NA KLLN|CWS4 KLLN|NA KLLN Cowden syndrome 4 None 612105 615107 10 NA +PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Malignant melanoma, somatic None 601728 155600 10 NA +PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Meningioma Autosomal dominant 601728 607174 10 NA +PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Macrocephaly/autism syndrome Autosomal dominant 601728 605309 10 NA +PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Glioma susceptibility 2 None 601728 613028 10 NA PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Lhermitte-Duclos syndrome Autosomal dominant 601728 158350 10 NA PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN VATER association with macrocephaly and ventriculomegaly Autosomal recessive 601728 276950 10 NA PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Endometrial carcinoma, somatic None 601728 608089 10 NA @@ -3183,33 +3218,29 @@ PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Cowden syndrome 1 Autosomal dominant 6 PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN PTEN hamartoma tumor syndrome None 601728 NA 10 NA PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Prostate cancer, somatic None 601728 176807 10 NA PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Bannayan-Riley-Ruvalcaba syndrome Autosomal dominant 601728 153480 10 NA -PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Malignant melanoma, somatic None 601728 155600 10 NA -PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Meningioma Autosomal dominant 601728 607174 10 NA -PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Macrocephaly/autism syndrome Autosomal dominant 601728 605309 10 NA -PTEN|MMAC1|GLM2|CWS1 PTEN|PTEN|NA|NA PTEN Glioma susceptibility 2 None 601728 613028 10 NA LIPN|LIPL4|ARCI8|LI4 LIPN|LIPN|NA|NA LIPN Ichthyosis, congenital, autosomal recessive 8 Autosomal recessive 613924 613943 10 NA -ACTA2|ACTSA|AAT6|MYMY5 ACTA2|ACTA2|NA|NA ACTA2 Multisystemic smooth muscle dysfunction syndrome Autosomal dominant 102620 613834 10 NA ACTA2|ACTSA|AAT6|MYMY5 ACTA2|ACTA2|NA|NA ACTA2 Moyamoya disease 5 None 102620 614042 10 NA -ACTA2|ACTSA|AAT6|MYMY5 ACTA2|ACTA2|NA|NA ACTA2 Aortic aneurysm, familial thoracic 6 None 102620 611788 10 NA +ACTA2|ACTSA|AAT6|MYMY5 ACTA2|ACTA2|NA|NA ACTA2 Aortic aneurysm, familial thoracic 6 Autosomal dominant 102620 611788 10 NA +ACTA2|ACTSA|AAT6|MYMY5 ACTA2|ACTA2|NA|NA ACTA2 Multisystemic smooth muscle dysfunction syndrome Autosomal dominant 102620 613834 10 NA FAS|TNFRSF6|APT1|CD95|ALPS1A FAS,FASN|FAS|FAS|FAS|NA FAS,FASN Autoimmune lymphoproliferative syndrome Autosomal dominant 134637 601859 10 NA FAS|TNFRSF6|APT1|CD95|ALPS1A FAS,FASN|FAS|FAS|FAS|NA FAS,FASN Squamous cell carcinoma, burn scar-related, somatic None 134637 NA 10 NA FAS|TNFRSF6|APT1|CD95|ALPS1A FAS,FASN|FAS|FAS|FAS|NA FAS,FASN Autoimmune lymphoproliferative syndrome, type IA Autosomal dominant 134637 601859 10 NA LIPA|CESD LIPA,SCGB1D1|LIPA LIPA,SCGB1D1 Wolman disease Autosomal recessive 613497 278000 10 ?close to GOT LIPA|CESD LIPA,SCGB1D1|LIPA LIPA,SCGB1D1 Cholesteryl ester storage disease Autosomal recessive 613497 278000 10 ?close to GOT -SLC16A12|MCT12|CJMG SLC16A12|SLC16A12|NA SLC16A12 Cataract, juvenile, with microcornea and glucosuria None 611910 612018 10 NA +SLC16A12|MCT12|CTRCT47 SLC16A12|SLC16A12|NA SLC16A12 Cataract 47, juvenile, with microcornea Autosomal dominant 611910 612018 10 mutation identified in 1 CTRCT47 family KIF11|KNSL1|MCLMR KIF11|KIF11|NA KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Autosomal dominant 148760 152950 10 NA CYP26C1|FFDD4 CYP26C1|NA CYP26C1 Focal facial dermal dysplasia 4 Autosomal recessive 608428 614974 10 NA FFAR4|O3FAR1|GPR120|PGR4|BMIQ10 FFAR4|FFAR4|FFAR4|FFAR4|NA FFAR4 Obesity, susceptibility to None 609044 607514 10 NA -RBP4|RDCCAS|MCOPCB10 POLR2D,RBP4|NA|NA POLR2D,RBP4 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Autosomal recessive 180250 615147 10 just centromeric of CYP2C cluster RBP4|RDCCAS|MCOPCB10 POLR2D,RBP4|NA|NA POLR2D,RBP4 Microphthalmia, isolated, with coloboma 10 Autosomal dominant 180250 616428 10 just centromeric of CYP2C cluster +RBP4|RDCCAS|MCOPCB10 POLR2D,RBP4|NA|NA POLR2D,RBP4 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Autosomal recessive 180250 615147 10 just centromeric of CYP2C cluster PDE6C|PDEA2|COD4 PDE6C|PDE6C|PDE6C PDE6C Cone dystrophy 4 Autosomal recessive 600827 613093 10 NA LGI1|EPT|ETL1|ADLTE|ADPEAF LGI1|LGI1|LGI1,SMARCAD1|NA|NA SMARCAD1,LGI1 Epilepsy, familial temporal lobe, 1 Autosomal dominant 604619 600512 10 NA PLCE1|KIAA1516|NPHS3 PLCE1|PLCE1|PLCE1 PLCE1 Nephrotic syndrome, type 3 Autosomal recessive 608414 610725 10 NA HELLS|LSH|ICF4 HELLS|HELLS,SLC11A1|NA HELLS,SLC11A1 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Autosomal recessive 603946 616911 10 NA -CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Mephenytoin poor metabolizer Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel -CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Clopidogrel, impaired responsiveness to Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Proguanil poor metabolizer Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Omeprazole poor metabolizer Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel +CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Mephenytoin poor metabolizer Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel +CYP2C|CYP2C19 CYP2C18,CYP2C19|CYP2C19 CYP2C19,CYP2C18 Clopidogrel, impaired responsiveness to Autosomal recessive 124020 609535 10 4 genes in order: cen-C18-C19-C9-C8-tel CYP2C9 CYP2C9 CYP2C9 Warfarin sensitivity Autosomal dominant 601130 122700 10 NA CYP2C9 CYP2C9 CYP2C9 Tolbutamide poor metabolizer None 601130 NA 10 NA CYP2C8 CYP2C8 CYP2C8 Rhabdomyolysis, cerivastatin-induced None 601129 NA 10 NA @@ -3227,31 +3258,31 @@ ZFYVE27|SPG33 ZFYVE27|ZFYVE27 ZFYVE27 Spastic paraplegia 33, autosomal dominant HPS1 HPS1 HPS1 Hermansky-Pudlak syndrome 1 Autosomal recessive 604982 203300 10 NA HPSE2|HPA2|UFS1 HPSE2|HPSE2|NA HPSE2 Urofacial syndrome 1 Autosomal recessive 613469 236730 10 NA GOT1|ASTQTL1 GOLT1A,GOLT1B,GOT1|NA GOLT1B,GOLT1A,GOT1 Aspartate aminotransferase, serum level of, QTL1 None 138180 614419 10 10q26.1 = conflicting localization -COX15|CEMCOX2 COX15|NA COX15 Leigh syndrome due to cytochrome c oxidase deficiency Mitochondrial; Autosomal recessive 603646 256000 10 NA COX15|CEMCOX2 COX15|NA COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Autosomal recessive 603646 615119 10 NA +COX15|CEMCOX2 COX15|NA COX15 Leigh syndrome due to cytochrome c oxidase deficiency Mitochondrial; Autosomal recessive 603646 256000 10 NA ABCC2|CMOAT ABCC2|ABCC2 ABCC2 Dubin-Johnson syndrome Autosomal recessive 601107 237500 10 NA CPN1|SCPN|CPN CPN1,CPNE1,CYP11B1|NA|NA CYP11B1,CPN1,CPNE1 Carboxypeptidase N deficiency Autosomal recessive 603103 212070 10 NA -ERLIN1|SPG62 ERLIN1|ERLIN1 ERLIN1 Spastic paraplegia 62 None 611604 615681 10 NA +ERLIN1|SPG62 ERLIN1|ERLIN1 ERLIN1 Spastic paraplegia 62 Autosomal recessive 611604 615681 10 NA CHUK|IKBKA|NFKBIKA|IKKA|IKK1 CHUK|NA|CHUK|CHUK|CHUK CHUK Cocoon syndrome None 600664 613630 10 NA -CWF19L1|C19L1|SCAR17 CWF19L1|NA|NA CWF19L1 ?Spinocerebellar ataxia, autosomal recessive 17 Autosomal recessive 616120 616127 10 mutation identified in 1 SCAR17 family -PAX2|PAPRS|FSGS7 PAX2|NA|NA PAX2 Papillorenal syndrome Autosomal dominant 167409 120330 10 NA +CWF19L1|C19L1|SCAR17 CWF19L1|NA|NA CWF19L1 Spinocerebellar ataxia, autosomal recessive 17 Autosomal recessive 616120 616127 10 NA PAX2|PAPRS|FSGS7 PAX2|NA|NA PAX2 Glomerulosclerosis, focal segmental, 7 Autosomal dominant 167409 616002 10 NA +PAX2|PAPRS|FSGS7 PAX2|NA|NA PAX2 Papillorenal syndrome Autosomal dominant 167409 120330 10 NA +C10orf2|TWINKLE|PEOA3|IOSCA|MTDPS7|PRLTS5 C10orf2|C10orf2|NA|C10orf2|NA|NA C10orf2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Autosomal recessive 606075 271245 10 PEO digenic with POLG C10orf2|TWINKLE|PEOA3|IOSCA|MTDPS7|PRLTS5 C10orf2|C10orf2|NA|C10orf2|NA|NA C10orf2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Autosomal dominant 606075 609286 10 PEO digenic with POLG C10orf2|TWINKLE|PEOA3|IOSCA|MTDPS7|PRLTS5 C10orf2|C10orf2|NA|C10orf2|NA|NA C10orf2 Perrault syndrome 5 Autosomal recessive 606075 616138 10 PEO digenic with POLG -C10orf2|TWINKLE|PEOA3|IOSCA|MTDPS7|PRLTS5 C10orf2|C10orf2|NA|C10orf2|NA|NA C10orf2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Autosomal recessive 606075 271245 10 PEO digenic with POLG PDZD7 PDZD7 PDZD7 Retinal disease in Usher syndrome type IIA, modifier of Autosomal recessive 612971 276901 10 NA -PDZD7 PDZD7 PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic Digenic dominant; Autosomal recessive 612971 605472 10 NA +PDZD7 PDZD7 PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic Autosomal recessive; Digenic dominant 612971 605472 10 NA FGF8|HH6 FGF8|NA FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia None 600483 612702 10 NA HPS6|RU HPS6|NA HPS6 Hermansky-Pudlak syndrome 6 None 607522 614075 10 NA -PITX3|CTPP4|CTRCT11 PITX3|NA|NA PITX3 Cataract 11, syndromic Autosomal dominant 602669 610623 10 NA PITX3|CTPP4|CTRCT11 PITX3|NA|NA PITX3 Cataract 11, multiple types Autosomal dominant 602669 610623 10 NA PITX3|CTPP4|CTRCT11 PITX3|NA|NA PITX3 Anterior segment mesenchymal dysgenesis Autosomal dominant 602669 107250 10 NA +PITX3|CTPP4|CTRCT11 PITX3|NA|NA PITX3 Cataract 11, syndromic Autosomal dominant 602669 610623 10 NA NFKB2|LYT10|CVID10 NFKB2|NA|NA NFKB2 Immunodeficiency, common variable, 10 Autosomal dominant 164012 615577 10 NA +SUFU|SUFUXL|SUFUH SUFU|SUFU|SUFU SUFU Meningioma, familial, susceptibility to Autosomal dominant 607035 607174 10 NA SUFU|SUFUXL|SUFUH SUFU|SUFU|SUFU SUFU Medulloblastoma, desmoplastic Autosomal dominant 607035 155255 10 NA SUFU|SUFUXL|SUFUH SUFU|SUFU|SUFU SUFU Basal cell nevus syndrome Autosomal dominant 607035 109400 10 NA -SUFU|SUFUXL|SUFUH SUFU|SUFU|SUFU SUFU Meningioma, familial, susceptibility to Autosomal dominant 607035 607174 10 NA -CYP17A1|CYP17|P450C17 CYP17A1|CYP17A1|CYP17A1 CYP17A1 17,20-lyase deficiency, isolated Autosomal recessive 609300 202110 10 at least 2 genes; distal to GOT1 CYP17A1|CYP17|P450C17 CYP17A1|CYP17A1|CYP17A1 CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency Autosomal recessive 609300 202110 10 at least 2 genes; distal to GOT1 +CYP17A1|CYP17|P450C17 CYP17A1|CYP17A1|CYP17A1 CYP17A1 17,20-lyase deficiency, isolated Autosomal recessive 609300 202110 10 at least 2 genes; distal to GOT1 CNNM2|ACDP2|HOMG6|HOMGSMR CNNM2|CNNM2|NA|NA CNNM2 Hypomagnesemia, seizures, and mental retardation Autosomal dominant; Autosomal recessive 607803 616418 10 NA CNNM2|ACDP2|HOMG6|HOMGSMR CNNM2|CNNM2|NA|NA CNNM2 Hypomagnesemia 6, renal Autosomal dominant 607803 613882 10 NA NT5C2|NT5B|PNT5|SPG45 NT5C2|NT5C2|NT5C2|SPG45 SPG45,NT5C2 Spastic paraplegia 45, autosomal recessive Autosomal recessive 600417 613162 10 NA @@ -3281,6 +3312,10 @@ SFXN4|COXPD18 SFXN4|NA SFXN4 Combined oxidative phosphorylation deficiency 18 Au BAG3|MFM6 BAG3|NA BAG3 Myopathy, myofibrillar, 6 Autosomal dominant 603883 612954 10 NA BAG3|MFM6 BAG3|NA BAG3 Cardiomyopathy, dilated, 1HH Autosomal dominant 603883 613881 10 NA WDR11|DR11|KIAA1351|BRWD2|HH14 PHIP,WDR11|WDR11|WDR11|PHIP,WDR11|WDR11 WDR11,PHIP Hypogonadotropic hypogonadism 14 with or without anosmia Autosomal dominant 606417 614858 10 NA +FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Craniofacial-skeletal-dermatologic dysplasia Autosomal dominant 176943 101600 10 NA +FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 LADD syndrome Autosomal dominant 176943 149730 10 NA +FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Bent bone dysplasia syndrome Autosomal dominant 176943 614592 10 NA +FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Jackson-Weiss syndrome Autosomal dominant 176943 123150 10 NA FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Scaphocephaly, maxillary retrusion, and mental retardation None 176943 609579 10 NA FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Beare-Stevenson cutis gyrata syndrome Autosomal dominant 176943 123790 10 NA FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Gastric cancer, somatic None 176943 613659 10 NA @@ -3291,15 +3326,11 @@ FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Autosomal recessive 176943 207410 10 NA FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Craniosynostosis, nonspecific None 176943 NA 10 NA FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Pfeiffer syndrome Autosomal dominant 176943 101600 10 NA -FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Craniofacial-skeletal-dermatologic dysplasia Autosomal dominant 176943 101600 10 NA -FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 LADD syndrome Autosomal dominant 176943 149730 10 NA -FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Bent bone dysplasia syndrome Autosomal dominant 176943 614592 10 NA -FGFR2|BEK|CFD1|JWS|TK14|BBDS FGFR2|FGFR2|FGFR2,NUBP2|FGFR2|FGFR2|NA NUBP2,FGFR2 Jackson-Weiss syndrome Autosomal dominant 176943 123150 10 NA LOC387715|ARMD8 ARMS2|ARMS2 ARMS2 Macular degeneration, age-related, 8 None 611313 613778 10 NA -HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Autosomal dominant 602194 616779 10 NA -HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 CARASIL syndrome Autosomal recessive 602194 600142 10 NA HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 Macular degeneration, age-related, neovascular type None 602194 610149 10 NA HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 Macular degeneration, age-related, 7 None 602194 610149 10 NA +HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Autosomal dominant 602194 616779 10 NA +HTRA1|PRSS11|ARMD7|CARASIL|CADASIL2 HTRA1|HTRA1|HTRA1|NA|NA HTRA1 CARASIL syndrome Autosomal recessive 602194 600142 10 NA ACADSB|SBCAD ACADSB|ACADSB ACADSB 2-methylbutyrylglycinuria Autosomal recessive 600301 610006 10 NA OAT|GACR OAT|NA OAT Gyrate atrophy of choroid and retina with or without ornithinemia Autosomal recessive 613349 258870 10 pseudogene at Xp11.2 MMP21|HTX7 MMP21,MMP23A|NA MMP21,MMP23A Heterotaxy, visceral, 7, autosomal Autosomal recessive 608416 616749 10 NA @@ -3313,17 +3344,17 @@ NNO1 NNO1 NNO1 Nanophthalmos-1 Autosomal dominant 600165 600165 11 NA SLEN3 SLEN3 SLEN3 Systemic lupus erythematosus with nephritis, susceptibility to, 3 None 607967 607967 11 NA IFITM5|OI5 IFITM5|NA IFITM5 Osteogenesis imperfecta, type V Autosomal dominant 614757 610967 11 NA IFITM3 IFITM3 IFITM3 Influenza, severe, susceptibility to None 605579 614680 11 NA +HRAS HRAS HRAS Nevus sebaceous or woolly hair nevus, somatic None 190020 162900 11 pseudogene HRASP on X +HRAS HRAS HRAS Bladder cancer, somatic None 190020 109800 11 pseudogene HRASP on X HRAS HRAS HRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic None 190020 163200 11 pseudogene HRASP on X HRAS HRAS HRAS Costello syndrome Autosomal dominant; Isolated cases 190020 218040 11 pseudogene HRASP on X HRAS HRAS HRAS Thyroid carcinoma, follicular, somatic None 190020 188470 11 pseudogene HRASP on X HRAS HRAS HRAS Congenital myopathy with excess of muscle spindles Autosomal dominant; Isolated cases 190020 218040 11 pseudogene HRASP on X HRAS HRAS HRAS Spitz nevus or nevus spilus, somatic None 190020 137550 11 pseudogene HRASP on X -HRAS HRAS HRAS Nevus sebaceous or woolly hair nevus, somatic None 190020 162900 11 pseudogene HRASP on X -HRAS HRAS HRAS Bladder cancer, somatic None 190020 109800 11 pseudogene HRASP on X IRF7|IRF7A|IRF7B|IRF7C|IRF7H|IMD39 IRF7|NA|NA|NA|NA|NA IRF7 ?Immunodeficiency 39 Autosomal recessive 605047 616345 11 mutation identified in 1 family -DRD4 DRD4 DRD4 Autonomic nervous system dysfunction None 126452 NA 11 proximal to HRAS DRD4 DRD4 DRD4 Attention deficit-hyperactivity disorder Autosomal dominant 126452 143465 11 proximal to HRAS DRD4 DRD4 DRD4 Novelty seeking personality ?Autosomal dominant 126452 601696 11 proximal to HRAS +DRD4 DRD4 DRD4 Autonomic nervous system dysfunction None 126452 NA 11 proximal to HRAS DEAF1|SPN|ZMYND5|MRD24 DEAF1|DEAF1,SPN|DEAF1|NA DEAF1,SPN Mental retardation, autosomal dominant 24 Autosomal dominant 602635 615828 11 NA TALDO1 TALDO1 TALDO1 Transaldolase deficiency Autosomal recessive 602063 606003 11 pseudogene on chr.1 SLC25A22|GC1|EIEE3 SLC25A22|OLFM4,SLC25A22|SLC25A22 SLC25A22,OLFM4 Epileptic encephalopathy, early infantile, 3 Autosomal recessive 609302 609304 11 NA @@ -3334,40 +3365,40 @@ MUC5B MUC5B MUC5B Pulmonary fibrosis, idiopathic, susceptibility to Autosomal do CTSD|CPSD|CLN10 CTSD|CTSD|CTSD CTSD Ceroid lipofuscinosis, neuronal, 10 Autosomal recessive 116840 610127 11 NA TNNI2|AMCD2B|DA2B|FSSV TNNI2|TNNI2,TNNT3|TNNI2,TNNT3|TNNI2,TNNT3 TNNT3,TNNI2 Arthrogryposis multiplex congenita, distal, type 2B Autosomal dominant 191043 601680 11 NA TNNT3|AMCD2B|DA2B|FSSV TNNT3|TNNI2,TNNT3|TNNI2,TNNT3|TNNI2,TNNT3 TNNT3,TNNI2 Arthyrgryposis, distal, type 2B Autosomal dominant 600692 601680 11 NA -H19|D11S813E|ASM1|BWS|WT2 H19|H19|H19|CDKN1C|WT2 CDKN1C,H19,WT2 Wilms tumor 2 Autosomal dominant; Somatic mutation 103280 194071 11 same 200kb fragment as IGF2 H19|D11S813E|ASM1|BWS|WT2 H19|H19|H19|CDKN1C|WT2 CDKN1C,H19,WT2 Silver-Russell syndrome Isolated cases 103280 180860 11 same 200kb fragment as IGF2 H19|D11S813E|ASM1|BWS|WT2 H19|H19|H19|CDKN1C|WT2 CDKN1C,H19,WT2 Beckwith-Wiedemann syndrome Autosomal dominant 103280 130650 11 same 200kb fragment as IGF2 +H19|D11S813E|ASM1|BWS|WT2 H19|H19|H19|CDKN1C|WT2 CDKN1C,H19,WT2 Wilms tumor 2 Somatic mutation; Autosomal dominant 103280 194071 11 same 200kb fragment as IGF2 IGF2|GRDF IGF2|NA IGF2 ?Growth restriction, severe, with distinctive facies X-linked recessive 147470 616489 11 mutation identified in 1 GRDF family -INS|MODY10|IDDM2 INS|NA|INS INS Diabetes mellitus, permanent neonatal Autosomal dominant 176730 606176 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH -INS|MODY10|IDDM2 INS|NA|INS INS Diabetes mellitus, insulin-dependent, 2 Autosomal dominant 176730 125852 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH INS|MODY10|IDDM2 INS|NA|INS INS Maturity-onset diabetes of the young, type 10 Autosomal dominant 176730 613370 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH INS|MODY10|IDDM2 INS|NA|INS INS Hyperproinsulinemia Autosomal dominant 176730 616214 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH +INS|MODY10|IDDM2 INS|NA|INS INS Diabetes mellitus, permanent neonatal Autosomal dominant 176730 606176 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH +INS|MODY10|IDDM2 INS|NA|INS INS Diabetes mellitus, insulin-dependent, 2 Autosomal dominant 176730 125852 11 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH TH|TYH TH|NA TH Segawa syndrome, recessive Autosomal recessive 191290 605407 11 distal to HRAS1 CD81|TAPA1|CVID6 CD81|CD81|NA CD81 Immunodeficiency, common variable, 6 Autosomal recessive 186845 613496 11 NA +KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Atrial fibrillation, familial, 3 Autosomal dominant 607542 607554 11 NA KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Long QT syndrome 1, acquired, susceptibility to Autosomal dominant 607542 192500 11 NA KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Short QT syndrome 2 None 607542 609621 11 NA KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Long QT syndrome 1 Autosomal dominant 607542 192500 11 NA KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Jervell and Lange-Nielsen syndrome Autosomal recessive 607542 220400 11 NA -KCNQ1|KCNA9|LQT1|KVLQT1|ATFB3|SQT2 KCNQ1|KCNQ1|KCNQ1|KCNQ1|NA|NA KCNQ1 Atrial fibrillation, familial, 3 Autosomal dominant 607542 607554 11 NA KCNQ1OT1|LIT1 KCNQ1OT1|KCNQ1OT1 KCNQ1OT1 Beckwith-Wiedemann syndrome Autosomal dominant 604115 130650 11 NA CDKN1C|KIP2|BWS|IMAGE CDKN1C|CDKN1C,CIB2|CDKN1C|NA CDKN1C,CIB2 IMAGE syndrome Autosomal dominant 600856 614732 11 rare cause of BWS CDKN1C|KIP2|BWS|IMAGE CDKN1C|CDKN1C,CIB2|CDKN1C|NA CDKN1C,CIB2 Beckwith-Wiedemann syndrome Autosomal dominant 600856 130650 11 rare cause of BWS -SLC22A1L|BWSCR1A|IMPT1 SLC22A18|SLC22A18|SLC22A18 SLC22A18 Breast cancer, somatic None 602631 114480 11 NA SLC22A1L|BWSCR1A|IMPT1 SLC22A18|SLC22A18|SLC22A18 SLC22A18 Rhabdomyosarcoma, somatic None 602631 268210 11 NA SLC22A1L|BWSCR1A|IMPT1 SLC22A18|SLC22A18|SLC22A18 SLC22A18 Lung cancer, somatic None 602631 211980 11 NA +SLC22A1L|BWSCR1A|IMPT1 SLC22A18|SLC22A18|SLC22A18 SLC22A18 Breast cancer, somatic None 602631 114480 11 NA PGAP2|FRAG1|HPMRS3|MRT17|MRT21 PGAP2|ATAD5,PGAP2|NA|MRT17|PGAP2 ATAD5,MRT17,PGAP2 Hyperphosphatasia with mental retardation syndrome 3 Autosomal recessive 615187 614207 11 NA STIM1|TAM1|IMD10|STRMK STIM1|NA|NA|NA STIM1 Stormorken syndrome Autosomal dominant 605921 185070 11 NA STIM1|TAM1|IMD10|STRMK STIM1|NA|NA|NA STIM1 Myopathy, tubular aggregate, 1 Autosomal dominant 605921 160565 11 NA STIM1|TAM1|IMD10|STRMK STIM1|NA|NA|NA STIM1 Immunodeficiency 10 Autosomal recessive 605921 612783 11 NA +HBB HBB,KRT89P KRT89P,HBB Delta-beta thalassemia Autosomal dominant 141900 141749 11 pseudogene HBBP1 between HBG and HBD loci +HBB HBB,KRT89P KRT89P,HBB Sickle cell anemia Autosomal recessive 141900 603903 11 pseudogene HBBP1 between HBG and HBD loci +HBB HBB,KRT89P KRT89P,HBB Methemoglobinemias, beta- None 141900 NA 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Hereditary persistence of fetal hemoglobin Autosomal dominant 141900 141749 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Malaria, resistance to None 141900 611162 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Heinz body anemias, beta- Autosomal dominant 141900 140700 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Thalassemias, beta- None 141900 613985 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Erythremias, beta- None 141900 NA 11 pseudogene HBBP1 between HBG and HBD loci HBB HBB,KRT89P KRT89P,HBB Thalassemia-beta, dominant inclusion-body None 141900 603902 11 pseudogene HBBP1 between HBG and HBD loci -HBB HBB,KRT89P KRT89P,HBB Delta-beta thalassemia Autosomal dominant 141900 141749 11 pseudogene HBBP1 between HBG and HBD loci -HBB HBB,KRT89P KRT89P,HBB Sickle cell anemia Autosomal recessive 141900 603903 11 pseudogene HBBP1 between HBG and HBD loci -HBB HBB,KRT89P KRT89P,HBB Methemoglobinemias, beta- None 141900 NA 11 pseudogene HBBP1 between HBG and HBD loci HBD HBB,HBD,KRT87P KRT87P,HBD,HBB Thalassemia, delta- None 142000 NA 11 NA HBD HBB,HBD,KRT87P KRT87P,HBD,HBB Thalassemia due to Hb Lepore None 142000 NA 11 NA HBG1 HBG1 HBG1 Fetal hemoglobin quantitative trait locus 1 Autosomal dominant 142200 141749 11 NA @@ -3389,17 +3420,17 @@ PTH PTH PTH Hypoparathyroidism, autosomal dominant Autosomal dominant 168450 146 FAR1|MLSTD2|PFCRD FAR1|FAR1|NA FAR1 Peroxisomal fatty acyl-CoA reductase 1 disorder Autosomal recessive 616107 616154 11 NA RRAS2|TC21 RRAS2|RRAS2 RRAS2 Ovarian carcinoma None 600098 NA 11 NA CYP2R1 CYP2R1 CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation Autosomal recessive 608713 600081 11 NA +KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes mellitus, permanent neonatal, with neurologic features Autosomal dominant 600937 606176 11 4.5kb 3' of SUR +KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes mellitus, type 2, susceptibility to Autosomal dominant 600937 125853 11 4.5kb 3' of SUR KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Maturity-onset diabetes of the young, type 13 Autosomal dominant 600937 616329 11 4.5kb 3' of SUR KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Hyperinsulinemic hypoglycemia, familial, 2 Autosomal recessive 600937 601820 11 4.5kb 3' of SUR KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes, permanent neonatal Autosomal dominant 600937 606176 11 4.5kb 3' of SUR KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes mellitus, transient neonatal, 3 None 600937 610582 11 4.5kb 3' of SUR -KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes mellitus, permanent neonatal, with neurologic features Autosomal dominant 600937 606176 11 4.5kb 3' of SUR -KCNJ11|BIR|PHHI|HHF2|TNDM3|MODY13 KCNJ11|KCNJ11|ABCC8|NA|NA|NA KCNJ11,ABCC8 Diabetes mellitus, type 2, susceptibility to Autosomal dominant 600937 125853 11 4.5kb 3' of SUR +ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Diabetes mellitus, noninsulin-dependent Autosomal dominant 600509 125853 11 NA +ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Hypoglycemia of infancy, leucine-sensitive Autosomal dominant 600509 240800 11 NA ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Hyperinsulinemic hypoglycemia, familial, 1 Autosomal dominant; Autosomal recessive 600509 256450 11 NA ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Diabetes mellitus, transient neonatal 2 None 600509 610374 11 NA ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Diabetes mellitus, permanent neonatal Autosomal dominant 600509 606176 11 NA -ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Diabetes mellitus, noninsulin-dependent Autosomal dominant 600509 125853 11 NA -ABCC8|SUR|PHHI|SUR1|HHF1|TNDM2 ABCC8|ABCC8|ABCC8|ABCC8|ABCC8|ABCC8 ABCC8 Hypoglycemia of infancy, leucine-sensitive Autosomal dominant 600509 240800 11 NA USH1C|DFNB18A USH1C|NA USH1C Usher syndrome, type 1C Autosomal recessive 605242 276904 11 Acadian and Samaritan variety USH1C|DFNB18A USH1C|NA USH1C Deafness, autosomal recessive 18A Autosomal recessive 605242 602092 11 Acadian and Samaritan variety OTOG|OTGN|DFNB18B OTOG|OTOG|NA OTOG Deafness, autosomal recessive 18B Autosomal recessive 604487 614945 11 NA @@ -3407,31 +3438,33 @@ KCNC1|EPM7 KCNC1|NA KCNC1 Epilepsy, progressive myoclonic 7 Autosomal dominant 1 HPS5|RU2|KIAA1017 HPS5|DCDC2,KAAG1|NA HPS5,KAAG1,DCDC2 Hermansky-Pudlak syndrome 5 None 607521 614074 11 NA LDHA|LDH1|GSD11 LDHA|NA|NA LDHA Glycogen storage disease XI Autosomal recessive 150000 612933 11 NA TSG101 TSG101 TSG101 Breast cancer, somatic None 601387 114480 11 NA -CSRP3|CRP3|CLP|CMD1M|CMH12 CSRP3|CEBPD|CALML3,COTL1,CSRP3|CSRP3|NA CALML3,CSRP3,COTL1,CEBPD ?Cardiomyopathy, dilated, 1M None 600824 607482 11 mutation identified in 1 CMD1M family CSRP3|CRP3|CLP|CMD1M|CMH12 CSRP3|CEBPD|CALML3,COTL1,CSRP3|CSRP3|NA CALML3,CSRP3,COTL1,CEBPD Cardiomyopathy, hypertrophic, 12 Autosomal dominant 600824 612124 11 mutation identified in 1 CMD1M family +CSRP3|CRP3|CLP|CMD1M|CMH12 CSRP3|CEBPD|CALML3,COTL1,CSRP3|CSRP3|NA CALML3,CSRP3,COTL1,CEBPD ?Cardiomyopathy, dilated, 1M None 600824 607482 11 mutation identified in 1 CMD1M family SLC6A5|GLYT2|HKPX3 SLC6A2,SLC6A5|SLC6A5,GGTA1P|NA SLC6A2,GGTA1P,SLC6A5 Hyperekplexia 3 Autosomal dominant; Autosomal recessive 604159 614618 11 NA TST1 CCDC6 CCDC6 Tuberculin skin test reactivity, absence of None 613636 613636 11 at chr11:26.37M -ANO5|TMEM16E|GDD1|LGMD2L ANO5|ANO5|ANO5|ANO5 ANO5 Gnathodiaphyseal dysplasia Autosomal dominant 608662 166260 11 NA ANO5|TMEM16E|GDD1|LGMD2L ANO5|ANO5|ANO5|ANO5 ANO5 Muscular dystrophy, limb-girdle, type 2L Autosomal recessive 608662 611307 11 NA ANO5|TMEM16E|GDD1|LGMD2L ANO5|ANO5|ANO5|ANO5 ANO5 Miyoshi muscular dystrophy 3 Autosomal recessive 608662 613319 11 NA +ANO5|TMEM16E|GDD1|LGMD2L ANO5|ANO5|ANO5|ANO5 ANO5 Gnathodiaphyseal dysplasia Autosomal dominant 608662 166260 11 NA FANCF FANCF FANCF Fanconi anemia, complementation group F None 613897 603467 11 NA ANO3|TMEM16C|C11orf25|DYT24 ANO3|ANO3|ANO3|NA ANO3 Dystonia 24 Autosomal dominant 610110 615034 11 NA DFNA59 DFNA59 DFNA59 Deafness, autosomal dominant 59 Autosomal dominant 612642 612642 11 between D22S929 and D11S480 SPG41 SPG41 SPG41 ?Spastic paraplegia 41, autosomal dominant Autosomal dominant 613364 613364 11 max lod 2.36; between D11S1324 and D11S1993 LGR4|GPR48|BNMD17 LGR4|LGR4|NA LGR4 Bone mineral density, low, susceptibility to None 606666 615311 11 previously mapped to 5q34-q35.1 +BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Obsessive-compulsive disorder, protection against Autosomal dominant 113505 164230 11 homeology with NRF3 on 12p; at p14 boundary +BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Memory impairment, susceptibility to None 113505 NA 11 homeology with NRF3 on 12p; at p14 boundary BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Bulimia nervosa, age of onset of weight loss in Multifactorial 113505 607499 11 homeology with NRF3 on 12p; at p14 boundary BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Anorexia nervosa, susceptibility to None 113505 610269 11 homeology with NRF3 on 12p; at p14 boundary BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Central hypoventilation syndrome, congenital Autosomal dominant 113505 209880 11 homeology with NRF3 on 12p; at p14 boundary -BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Obsessive-compulsive disorder, protection against Autosomal dominant 113505 164230 11 homeology with NRF3 on 12p; at p14 boundary -BDNF|BULN2|ANON2 BDNF|NA|NA BDNF Memory impairment, susceptibility to None 113505 NA 11 homeology with NRF3 on 12p; at p14 boundary FSHB|HH24 FSHB|NA FSHB Hypogonadotropic hypogonadism 24 without anosmia Autosomal recessive 136530 229070 11 distal to AN2 CANDF3|CANDN1|FCNC CANDN1|CANDN1|CANDN1 CANDN1 Candidiasis, familial, 3 Autosomal dominant 607644 607644 11 between D11S1312 and D11S4191 -DEL11p13|C11DELp13|WAGR NA|NA|PAX6,WT1 WT1,PAX6 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Autosomal dominant; Somatic mutation 194072 194072 11 deletion of WT1 and PAX6 genes +DEL11p13|C11DELp13|WAGR NA|NA|PAX6,WT1 WT1,PAX6 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Somatic mutation; Autosomal dominant 194072 194072 11 deletion of WT1 and PAX6 genes DFNB51 DFNB51 DFNB51 Deafness, autosomal recessive 51 Autosomal recessive 609941 609941 11 max lod at D11S4102 EVR3 EVR3 EVR3 Exudative vitreoretinopathy 3 Autosomal dominant 605750 605750 11 NA -MRT23 MRT23 MRT23 Mental retardation, autosomal recessive 23 None 614344 614344 11 between rs604518 and rs10899421 +MRT23 MRT23 MRT23 Mental retardation, autosomal recessive 23 Autosomal recessive 614344 614344 11 between rs604518 and rs10899421 MYP7 MYP7 MYP7 Myopia 7 Multifactorial 609256 609256 11 NA ELP4|PAX6NEB|AN ELP4|NA|CCDC102B,DIAPH3,PAX6 PAX6,ELP4,CCDC102B,DIAPH3 ?Aniridia Autosomal dominant 606985 106210 11 mutation identified in 1 AN patients +PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Coloboma of optic nerve Autosomal dominant 607108 120430 11 mutation identified in 1 MGDA patient +PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Peters anomaly None 607108 604229 11 mutation identified in 1 MGDA patient PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Cataract with late-onset corneal dystrophy Autosomal dominant 607108 106210 11 mutation identified in 1 MGDA patient PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Optic nerve hypoplasia Autosomal dominant 607108 165550 11 mutation identified in 1 MGDA patient PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Aniridia Autosomal dominant 607108 106210 11 mutation identified in 1 MGDA patient @@ -3439,55 +3472,54 @@ PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Keratitis Autosomal dominant 607108 1481 PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 ?Morning glory disc anomaly Autosomal dominant 607108 120430 11 mutation identified in 1 MGDA patient PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Foveal hypoplasia 1 Autosomal dominant 607108 136520 11 mutation identified in 1 MGDA patient PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Coloboma, ocular Autosomal dominant 607108 120200 11 mutation identified in 1 MGDA patient -PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Coloboma of optic nerve Autosomal dominant 607108 120430 11 mutation identified in 1 MGDA patient -PAX6|AN2|MGDA|FVH1 PAX6|PAX6|NA|NA PAX6 Peters anomaly None 607108 604229 11 mutation identified in 1 MGDA patient +WT1|NPHS4 WT1|NA WT1 Nephrotic syndrome, type 4 Autosomal dominant 607102 256370 11 clumped: pter-FSHB-AN2-WT1-CAT WT1|NPHS4 WT1|NA WT1 Mesothelioma, somatic None 607102 156240 11 clumped: pter-FSHB-AN2-WT1-CAT WT1|NPHS4 WT1|NA WT1 Meacham syndrome None 607102 608978 11 clumped: pter-FSHB-AN2-WT1-CAT -WT1|NPHS4 WT1|NA WT1 Frasier syndrome Autosomal dominant; Somatic mutation 607102 136680 11 clumped: pter-FSHB-AN2-WT1-CAT -WT1|NPHS4 WT1|NA WT1 Denys-Drash syndrome Autosomal dominant; Somatic mutation 607102 194080 11 clumped: pter-FSHB-AN2-WT1-CAT -WT1|NPHS4 WT1|NA WT1 Wilms tumor, type 1 Autosomal dominant; Somatic mutation 607102 194070 11 clumped: pter-FSHB-AN2-WT1-CAT -WT1|NPHS4 WT1|NA WT1 Nephrotic syndrome, type 4 Autosomal dominant 607102 256370 11 clumped: pter-FSHB-AN2-WT1-CAT +WT1|NPHS4 WT1|NA WT1 Frasier syndrome Somatic mutation; Autosomal dominant 607102 136680 11 clumped: pter-FSHB-AN2-WT1-CAT +WT1|NPHS4 WT1|NA WT1 Denys-Drash syndrome Somatic mutation; Autosomal dominant 607102 194080 11 clumped: pter-FSHB-AN2-WT1-CAT +WT1|NPHS4 WT1|NA WT1 Wilms tumor, type 1 Somatic mutation; Autosomal dominant 607102 194070 11 clumped: pter-FSHB-AN2-WT1-CAT CD59|MIC11 CD59|CD59 CD59 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy Autosomal recessive 107271 612300 11 in mouse Ly-6 = multigene complex LMO2|RBTNL1|RHOM2|TTG2 LMO2|LMO2|LMO2|LMO2 LMO2 Leukemia, acute T-cell None 180385 180385 11 3rd rhombotin gene not on 11 CAT CAT CAT Acatalasemia None 115500 614097 11 cen-CAT-WT1-AN2-pter PDX1 PDHX,PDX1 PDHX,PDX1 Lacticacidemia due to PDX1 deficiency Autosomal recessive 608769 245349 11 NA CD44|MDU2|MDU3|MIC4|IN CD44|CD44|CD44|CD44|CD44 CD44 Blood group, Indian system None 107269 609027 11 NA +SLC1A2|EAAT2|EIEE41 SLC1A2|SLC1A2|NA SLC1A2 Epileptic encephalopathy, early infantile, 41 Autosomal dominant 600300 617105 11 NA +RAG1 RAG1 RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity None 179615 609889 11 assignment to 14 in error RAG1 RAG1 RAG1 Severe combined immunodeficiency, B cell-negative Autosomal recessive 179615 601457 11 assignment to 14 in error RAG1 RAG1 RAG1 Omenn syndrome Autosomal recessive 179615 603554 11 assignment to 14 in error RAG1 RAG1 RAG1 Combined cellular and humoral immune defects with granulomas Autosomal recessive 179615 233650 11 assignment to 14 in error -RAG1 RAG1 RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity None 179615 609889 11 assignment to 14 in error -RAG2 RAG2 RAG2 Combined cellular and humoral immune defects with granulomas Autosomal recessive 179616 233650 11 assignment to 14 in error RAG2 RAG2 RAG2 Severe combined immunodeficiency, B cell-negative Autosomal recessive 179616 601457 11 assignment to 14 in error RAG2 RAG2 RAG2 Omenn syndrome Autosomal recessive 179616 603554 11 assignment to 14 in error +RAG2 RAG2 RAG2 Combined cellular and humoral immune defects with granulomas Autosomal recessive 179616 233650 11 assignment to 14 in error EXT2|SSMS EXT3,EXT2|NA EXT3,EXT2 Exostoses, multiple, type 2 Autosomal dominant 608210 133701 11 mutation identified in 1 SSMS family EXT2|SSMS EXT3,EXT2|NA EXT3,EXT2 ?Seizures, scoliosis, and macrocephaly syndrome Autosomal recessive 608210 616682 11 mutation identified in 1 SSMS family -ALX4|PFM2|FPP|FND2|CRS5 ALX4|ALX4,PRDM5|ALX4,MSX2|NA|NA PRDM5,MSX2,ALX4 Frontonasal dysplasia 2 Autosomal recessive 605420 613451 11 NA ALX4|PFM2|FPP|FND2|CRS5 ALX4|ALX4,PRDM5|ALX4,MSX2|NA|NA PRDM5,MSX2,ALX4 Craniosynostosis 5, susceptibility to Autosomal dominant 605420 615529 11 NA ALX4|PFM2|FPP|FND2|CRS5 ALX4|ALX4,PRDM5|ALX4,MSX2|NA|NA PRDM5,MSX2,ALX4 Parietal foramina 2 Autosomal dominant 605420 609597 11 NA +ALX4|PFM2|FPP|FND2|CRS5 ALX4|ALX4,PRDM5|ALX4,MSX2|NA|NA PRDM5,MSX2,ALX4 Frontonasal dysplasia 2 Autosomal recessive 605420 613451 11 NA CD82|SAR2|KAI1|ST6 CD82|NA|CD82|CD82 CD82 Prostate cancer, susceptibility to Autosomal dominant 600623 176807 11 NA SLC35C1|FUCT1|CDG2C SLC35C1|SLC35C1|NA SLC35C1 Congenital disorder of glycosylation, type IIc Autosomal recessive 605881 266265 11 NA MAPK8IP1|IB1 MAPK8IP1|MAPK8IP1 MAPK8IP1 Diabetes mellitus, noninsulin-dependent Autosomal dominant 604641 125853 11 NA -PEX16|PBD8A|PBD8B PEX16|NA|NA PEX16 Peroxisome biogenesis disorder 8B None 603360 614877 11 NA PEX16|PBD8A|PBD8B PEX16|NA|NA PEX16 Peroxisome biogenesis disorder 8A, (Zellweger) None 603360 614876 11 NA +PEX16|PBD8A|PBD8B PEX16|NA|NA PEX16 Peroxisome biogenesis disorder 8B None 603360 614877 11 NA ZNF408|EVR6|RP72 ZNF408|NA|NA ZNF408 Retinitis pigmentosa 72 Autosomal recessive 616454 616469 11 mutation identified in 1 EVR6 family ZNF408|EVR6|RP72 ZNF408|NA|NA ZNF408 ?Exudative vitreoretinopathy 6 Autosomal dominant 616454 616468 11 mutation identified in 1 EVR6 family +F2|THPH1|RPRGL2 F2|NA|NA F2 Pregnancy loss, recurrent, susceptibility to, 2 Autosomal dominant 176930 614390 11 NA +F2|THPH1|RPRGL2 F2|NA|NA F2 Thrombophilia due to thrombin defect Autosomal dominant 176930 188050 11 NA F2|THPH1|RPRGL2 F2|NA|NA F2 Hypoprothrombinemia Autosomal recessive 176930 613679 11 NA F2|THPH1|RPRGL2 F2|NA|NA F2 Dysprothrombinemia Autosomal recessive 176930 613679 11 NA F2|THPH1|RPRGL2 F2|NA|NA F2 Stroke, ischemic, susceptibility to Multifactorial 176930 601367 11 NA -F2|THPH1|RPRGL2 F2|NA|NA F2 Pregnancy loss, recurrent, susceptibility to, 2 Autosomal dominant 176930 614390 11 NA -F2|THPH1|RPRGL2 F2|NA|NA F2 Thrombophilia due to thrombin defect Autosomal dominant 176930 188050 11 NA -LRP4|MEGF7|CLSS|SOST2|CMS17 LRP4|LRP4|LRP4|LRP4|NA LRP4 Sclerosteosis 2 Autosomal dominant; Autosomal recessive 604270 614305 11 mutation identified in 1 CMS17 family LRP4|MEGF7|CLSS|SOST2|CMS17 LRP4|LRP4|LRP4|LRP4|NA LRP4 Cenani-Lenz syndactyly syndrome Autosomal recessive 604270 212780 11 mutation identified in 1 CMS17 family LRP4|MEGF7|CLSS|SOST2|CMS17 LRP4|LRP4|LRP4|LRP4|NA LRP4 ?Myasthenic syndrome, congenital, 17 Autosomal recessive 604270 616304 11 mutation identified in 1 CMS17 family +LRP4|MEGF7|CLSS|SOST2|CMS17 LRP4|LRP4|LRP4|LRP4|NA LRP4 Sclerosteosis 2 Autosomal dominant; Autosomal recessive 604270 614305 11 mutation identified in 1 CMS17 family DDB2 DDB2 DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype Autosomal recessive 600811 278740 11 NA ACP2 ACP2 ACP2 ?Lysosomal acid phosphatase deficiency Autosomal recessive 171650 200950 11 NA MYBPC3|CMH4|CMD1MM|LVNC10 MYBPC3|MYBPC3|NA|NA MYBPC3 Left ventricular noncompaction 10 Autosomal dominant 600958 615396 11 NA MYBPC3|CMH4|CMD1MM|LVNC10 MYBPC3|MYBPC3|NA|NA MYBPC3 Cardiomyopathy, hypertrophic, 4 Autosomal dominant 600958 115197 11 NA MYBPC3|CMH4|CMD1MM|LVNC10 MYBPC3|MYBPC3|NA|NA MYBPC3 Cardiomyopathy, dilated, 1MM Autosomal dominant 600958 615396 11 NA SLC39A13 SLC39A13 SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Autosomal recessive 608735 612350 11 NA -RAPSN|CMS1D|CMS11|FADS RAPSN|RAPSN|NA|NA RAPSN Fetal akinesia deformation sequence Autosomal recessive 601592 208150 11 NA RAPSN|CMS1D|CMS11|FADS RAPSN|RAPSN|NA|NA RAPSN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Autosomal recessive 601592 616326 11 NA -NDUFS3 NDUFS3 NDUFS3 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 603846 252010 11 NA +RAPSN|CMS1D|CMS11|FADS RAPSN|RAPSN|NA|NA RAPSN Fetal akinesia deformation sequence Autosomal recessive 601592 208150 11 NA +NDUFS3 NDUFS3 NDUFS3 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 603846 252010 11 NA NDUFS3 NDUFS3 NDUFS3 Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial; Autosomal recessive 603846 256000 11 NA PTPRJ|DEP1 PTPRJ|PTPRJ PTPRJ Colon cancer, somatic None 600925 114500 11 NA SCA20|DUP11q12|C11DUPq12 SCA20|NA|NA SCA20 Spinocerebellar ataxia 20 Autosomal dominant 608687 608687 11 contiguous gene duplication syndrome @@ -3502,23 +3534,24 @@ MS4A2|FCER1B MS4A1,MS4A2|MS4A2 MS4A2,MS4A1 Atopy, susceptibility to Autosomal do MS4A1|CD20|CVID5 MS4A1,MS4A2|MS4A1|NA MS4A2,MS4A1 Immunodeficiency, common variable, 5 Autosomal recessive 112210 613495 11 NA ZP1|OOMD1 ZP1|NA ZP1 Oocyte maturation defect 1 Autosomal recessive 195000 615774 11 NA TMEM138|JBTS16 TMEM138|TMEM138 TMEM138 Joubert syndrome 16 Autosomal recessive 614459 614465 11 NA -TMEM216|JBTS2|CORS2|MKS2 TMEM216|TMEM216|TMEM216|TMEM216 TMEM216 Joubert syndrome 2 Autosomal recessive 613277 608091 11 NA TMEM216|JBTS2|CORS2|MKS2 TMEM216|TMEM216|TMEM216|TMEM216 TMEM216 Meckel syndrome 2 Autosomal recessive 613277 603194 11 NA +TMEM216|JBTS2|CORS2|MKS2 TMEM216|TMEM216|TMEM216|TMEM216 TMEM216 Joubert syndrome 2 Autosomal recessive 613277 608091 11 NA SDHAF2|SDH5|PGL2 SDHAF2|SDHAF2|SDHAF2 SDHAF2 Paragangliomas 2 Autosomal dominant 613019 601650 11 NA +BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Autosomal dominant 607854 193220 11 NA BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Macular dystrophy, vitelliform, 2 Autosomal dominant 607854 153700 11 NA BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Bestrophinopathy, autosomal recessive None 607854 611809 11 NA BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Vitreoretinochoroidopathy Autosomal dominant 607854 193220 11 NA BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Retinitis pigmentosa-50 None 607854 613194 11 NA BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Retinitis pigmentosa, concentric None 607854 613194 11 NA -BEST1|VMD2|ARB|RP50 BEST1|BEST1|NA|BEST1 BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Autosomal dominant 607854 193220 11 NA FTH1|FTHL6|HFE5 FTH1|FTH1|NA FTH1 ?Hemochromatosis, type 5 Autosomal dominant 134770 615517 11 mutation identified in 1 family ROM1|ROSP1|RP7 ROM1|NA|PRPH2 PRPH2,ROM1 Retinitis pigmentosa 7, digenic Autosomal dominant; Autosomal recessive 180721 608133 11 digenic RP with RDS B3GAT3|GLCATI|JDSCD B3GAT3|NA|NA B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects Autosomal recessive 606374 245600 11 pseudogene on chr.3 +GANAB|PKD3 GANAB|PKD3 PKD3,GANAB Polycyctic kidney disease 3 Autosomal dominant 104160 600666 11 NA UQCC3|C11orf83|MC3DN9 UQCC3|UQCC3|NA UQCC3 ?Mitochondrial complex III deficiency, nuclear type 9 Autosomal recessive 616097 616111 11 mutation identified in 1 MC3DN9 patient +BSCL2|SPG17|HMN5|PELD BSCL2|BSCL2|NA|NA BSCL2 Silver spastic paraplegia syndrome Autosomal dominant 606158 270685 11 NA BSCL2|SPG17|HMN5|PELD BSCL2|BSCL2|NA|NA BSCL2 Neuropathy, distal hereditary motor, type VA Autosomal dominant 606158 600794 11 NA BSCL2|SPG17|HMN5|PELD BSCL2|BSCL2|NA|NA BSCL2 Lipodystrophy, congenital generalized, type 2 Autosomal recessive 606158 269700 11 NA BSCL2|SPG17|HMN5|PELD BSCL2|BSCL2|NA|NA BSCL2 Encephalopathy, progressive, with or without lipodystrophy Autosomal recessive 606158 615924 11 NA -BSCL2|SPG17|HMN5|PELD BSCL2|BSCL2|NA|NA BSCL2 Silver spastic paraplegia syndrome Autosomal dominant 606158 270685 11 NA IDDM4 IDDM4 IDDM4 Diabetes mellitus, insulin-dependent, 4 None 600319 600319 11 NA ST3 ST3 ST3 Cervical carcinoma None 191181 191181 11 NA ATL3|HSN1F ATL3|NA ATL3 Neuropathy, hereditary sensory, type IF Autosomal dominant 609369 615632 11 NA @@ -3527,20 +3560,21 @@ KIND3|URP2|MIG2B|FERMT3 FERMT3|FERMT3|FERMT3|FERMT3 FERMT3 Leukocyte adhesion de SLC22A12|OAT4L|URAT1 SLC22A12|SLC22A12|SLC22A12 SLC22A12 Hypouricemia, renal Autosomal recessive 607096 220150 11 NA RASGRP2|CDC25L RASGRP2|RASGRF1 RASGRP2,RASGRF1 ?Bleeding disorder, platelet-type, 18 Autosomal recessive 605577 615888 11 mutation identified in 1 BDPLT18 family PYGM PYGM PYGM McArdle disease Autosomal recessive 608455 232600 11 NA +MEN1 MEN1 MEN1 Angiofibroma, somatic None 613733 NA 11 linked distal to PYGM +MEN1 MEN1 MEN1 Adrenal adenoma, somatic None 613733 NA 11 linked distal to PYGM MEN1 MEN1 MEN1 Parathyroid adenoma, somatic None 613733 NA 11 linked distal to PYGM MEN1 MEN1 MEN1 Multiple endocrine neoplasia 1 Autosomal dominant 613733 131100 11 linked distal to PYGM MEN1 MEN1 MEN1 Lipoma, somatic None 613733 NA 11 linked distal to PYGM MEN1 MEN1 MEN1 Carcinoid tumor of lung None 613733 NA 11 linked distal to PYGM -MEN1 MEN1 MEN1 Angiofibroma, somatic None 613733 NA 11 linked distal to PYGM -MEN1 MEN1 MEN1 Adrenal adenoma, somatic None 613733 NA 11 linked distal to PYGM CAPN1|SPG76 CAPN1|NA CAPN1 Spastic paraplegia 76, autosomal recessive Autosomal recessive 114220 616907 11 NA SCYL1|NTKL|SCAR21 CCL13,SCYL1|SCYL1|NA CCL13,SCYL1 Spinocerebellar ataxia, autosomal recessive 21 Autosomal recessive 607982 616719 11 NA LTBP3|LTBP2|DASS LTBP2,LTBP3|LTBP2,LTBP3|NA LTBP3,LTBP2 Dental anomalies and short stature Autosomal recessive 602090 601216 11 NA RNASEH2C|AYP1|FLJ20974|AGS3 RNASEH2C|RNASEH2C|NA|GPSM1,RNASEH2C RNASEH2C,GPSM1 Aicardi-Goutieres syndrome 3 Autosomal recessive 610330 610329 11 NA EFEMP2|FBLN4|UPH1|ARCL1B EFEMP2|EFEMP2|EFEMP2|NA EFEMP2 Cutis laxa, autosomal recessive, type IB Autosomal recessive 604633 614437 11 NA +FIBP|TROFAS FIBP|NA FIBP Thauvin-Robinet-Faivre syndrome Autosomal recessive 608296 617107 11 NA BANF1|BAF|NGPS BANF1|BANF1|NA BANF1 Nestor-Guillermo progeria syndrome Autosomal recessive 603811 614008 11 NA CATSPER1|CATSPER|SPGF7 CATSPER1|CATSPER1|NA CATSPER1 Spermatogenic failure 7 Autosomal recessive 606389 612997 11 NA -PACS1|MRD17 PACS1|NA PACS1 Mental retardation, autosomal dominant 17 None 607492 615009 11 NA +PACS1|SHMS|MRD17 PACS1|NA|NA PACS1 Schuss-Hoeijmakers sydnrome Autosomal dominant 607492 615009 11 NA KLC2|SPOAN KLC2|NA KLC2 Spastic paraplegia, optic atrophy, and neuropathy Autosomal recessive 611729 609541 11 NA B3GNT1|IGNT|IGAT|MDDGA13 B3GNT2,B4GAT1|GCNT2|NA|NA B4GAT1,B3GNT2,GCNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 Autosomal recessive 605517 615287 11 NA BBS1 BBS1 BBS1 Bardet-Biedl syndrome 1 Digenic recessive; Autosomal recessive 209901 209900 11 NA @@ -3553,13 +3587,14 @@ PC PC,PODXL PODXL,PC Pyruvate carboxylase deficiency Autosomal recessive 608786 CLCF1|BSF3|CLC|CISS2 CLCF1|CLCF1|CLC,CLCF1|CLCF1 CLCF1,CLC Cold-induced sweating syndrome 2 Autosomal recessive 607672 610313 11 NA CABP4|CRSD|CSNB2B CABP4|NA|CABP4 CABP4 Cone-rod synaptic disorder, congenital nonprogressive Autosomal recessive 608965 610427 11 NA AIP|XAP2|ARA9 AIP,AURKAIP1|AIP|AIP AURKAIP1,AIP Pituitary adenoma, prolactin-secreting None 605555 600634 11 NA -AIP|XAP2|ARA9 AIP,AURKAIP1|AIP|AIP AURKAIP1,AIP Pituitary adenoma, growth hormone-secreting Autosomal dominant; Somatic mutation 605555 102200 11 NA +AIP|XAP2|ARA9 AIP,AURKAIP1|AIP|AIP AURKAIP1,AIP Pituitary adenoma, growth hormone-secreting Somatic mutation; Autosomal dominant 605555 102200 11 NA AIP|XAP2|ARA9 AIP,AURKAIP1|AIP|AIP AURKAIP1,AIP Pituitary adenoma, ACTH-secreting Autosomal recessive 605555 219090 11 NA CABP2|DFNB93 CABP2|DFNB93 DFNB93,CABP2 Deafness, autosomal recessive 93 Autosomal recessive 607314 614899 11 NA -NDUFV1|UQOR1 NDUFV1|NA NDUFV1 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 161015 252010 11 NA +NDUFV1|UQOR1 NDUFV1|NA NDUFV1 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 161015 252010 11 NA UNC93B1|IIAE1 UNC93B1|NA UNC93B1 Herpes simplex encephalitis, susceptibility to, 1 None 608204 610551 11 NA NDUFS8 NDUFS8 NDUFS8 Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial; Autosomal recessive 602141 256000 11 previously assigned to 3q28 TCIRG1|TIRC7|OC116|OPTB1 TCIRG1|TCIRG1|TCIRG1|NA TCIRG1 Osteopetrosis, autosomal recessive 1 Autosomal recessive 604592 259700 11 NA +LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Osteopetrosis, autosomal dominant 1 Autosomal dominant 603506 607634 11 NA LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Osteoporosis Autosomal dominant 603506 166710 11 NA LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Hyperostosis, endosteal Autosomal dominant 603506 144750 11 NA LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Bone mineral density variability 1 Autosomal dominant 603506 601884 11 NA @@ -3567,15 +3602,14 @@ LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 van Buchem disease, type 2 Autosomal dominant 603506 607636 11 NA LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Osteosclerosis Autosomal dominant 603506 144750 11 NA LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Osteoporosis-pseudoglioma syndrome Autosomal recessive 603506 259770 11 NA -LRP5|BMND1|LRP7|LR3|OPPG|VBCH2|OPTA1|EVR4 LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5|LRP5 LRP5 Osteopetrosis, autosomal dominant 1 Autosomal dominant 603506 607634 11 NA GAL|GALN|GLNN|ETL8 GAL|GAL|GAL|NA GAL ?Epilepsy, familial temporal lobe, 8 Autosomal dominant 137035 616461 11 mutation identified in 1 ETL8 family CPT1A CPT1A CPT1A CPT deficiency, hepatic, type IA Autosomal recessive 600528 255120 11 NA IGHMBP2|SMUBP2|CATF1|SMARD1|HMN6|CMT2S IGHMBP2|IGHMBP2|IGHMBP2|IGHMBP2|IGHMBP2|NA IGHMBP2 Neuronopathy, distal hereditary motor, type VI Autosomal recessive 600502 604320 11 NA IGHMBP2|SMUBP2|CATF1|SMARD1|HMN6|CMT2S IGHMBP2|IGHMBP2|IGHMBP2|IGHMBP2|IGHMBP2|NA IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S Autosomal recessive 600502 616155 11 NA TPCN2|TPC2|SHEP10 TPCN2|TPCN2|NA TPCN2 Skin/hair/eye pigmentation 10, blond/brown hair None 612163 612267 11 NA -CCND1|PRAD1|BCL1 CCND1|CCND1|CCND1 CCND1 Colorectal cancer, susceptibility to Autosomal dominant 168461 114500 11 pseudogene on 11q13 CCND1|PRAD1|BCL1 CCND1|CCND1|CCND1 CCND1 von Hippel-Lindau syndrome, modifier of Autosomal dominant 168461 193300 11 pseudogene on 11q13 CCND1|PRAD1|BCL1 CCND1|CCND1|CCND1 CCND1 Multiple myeloma, susceptibility to Somatic mutation 168461 254500 11 pseudogene on 11q13 +CCND1|PRAD1|BCL1 CCND1|CCND1|CCND1 CCND1 Colorectal cancer, susceptibility to Autosomal dominant 168461 114500 11 pseudogene on 11q13 FGF3|INT2 FGF3|FGF3,INTS2 INTS2,FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia Autosomal recessive 164950 610706 11 35kb 5' to HST1 FADD FADD FADD Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations Autosomal recessive 602457 613759 11 NA SHANK2|CORTBP1|AUTS17 SHANK2|SHANK2|NA SHANK2 Autism susceptibility 17 None 603290 613436 11 NA @@ -3586,6 +3620,7 @@ FOLR1 FOLR1 FOLR1 Neurodegeneration due to cerebral folate transport deficiency INPPL1|OPSMD INPPL1|NA INPPL1 Opsismodysplasia Autosomal recessive 600829 258480 11 NA PHOX2A|ARIX|CFEOM2 PHOX2A|PHOX2A|PHOX2A PHOX2A Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive 602753 602078 11 NA CLPB|SKD3|MEGCANN|MGCA7 CLPB|CLPB|NA|NA CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia Autosomal recessive 616254 616271 11 NA +DNAJB13|TSARG6|CILD34 DNAJB13|DNAJB13|NA DNAJB13 Ciliary dyskinesia, primary, 34 Autosomal recessive 610263 617091 11 NA UCP2|BMIQ4 UCP2|UCP2 UCP2 Obesity, susceptibility to, BMIQ4 None 601693 607447 11 NA UCP3 UCP3 UCP3 Obesity, severe, and type II diabetes Autosomal dominant; Autosomal recessive; Multifactorial 602044 601665 11 NA C2CD3|OFD14 C2CD3|NA C2CD3 ?Orofaciodigital syndrome XIV Autosomal recessive 615944 615948 11 mutation identified in 1 OFD14 patient and 1 OFD14 fetus @@ -3601,6 +3636,7 @@ SLEH1 SLEH1 SLEH1 Systemic lupus erythematosus with hemolytic anemia None 607279 ALG8|CDG1H ALG8|NA ALG8 Congenital disorder of glycosylation, type Ih None 608103 608104 11 NA NARS2|COXPD24 NARS2|NA NARS2 Combined oxidative phosphorylation deficiency 24 Autosomal recessive 612803 616239 11 NA TENM4|ODZ4|TNM4|DOC4|KIAA1302|ETM5 TENM4|TENM4|NA|NA|TENM4|NA TENM4 Tremor, hereditary essential, 5 Autosomal dominant 610084 616736 11 NA +TMEM126B TMEM126B TMEM126B Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 615533 252010 11 NA TMEM126A|OPA7 TMEM126A|TMEM126A TMEM126A Optic atrophy 7 Autosomal recessive 612988 612989 11 NA PICALM|CALM|CLTH|LAP PICALM|PICALM,SNAP91|PICALM|CEBPB,CENPJ,LAP3 SNAP91,CEBPB,LAP3,CENPJ,PICALM Leukemia, acute myeloid, somatic None 603025 601626 11 fuses with AF10 in t(10;11) C11orf73|HIKESHI|HLD13 C11orf73|NA|NA C11orf73 Leukodystrophy, hypomyelinating, 13 Autosomal recessive 614908 616881 11 NA @@ -3609,12 +3645,12 @@ FZD4|EVR1 FZD4|FZD4,LRP5 FZD4,LRP5 Exudative vitreoretinopathy 1 Autosomal domin CTSC|CPPI|PALS|PLS|HMS|PDON1|JPD CTSC|NA|CTSC|CTSC|NA|NA|JPD CTSC,JPD Periodontitis 1, juvenile Autosomal recessive 602365 170650 11 NA CTSC|CPPI|PALS|PLS|HMS|PDON1|JPD CTSC|NA|CTSC|CTSC|NA|NA|JPD CTSC,JPD Papillon-Lefevre syndrome Autosomal recessive 602365 245000 11 NA CTSC|CPPI|PALS|PLS|HMS|PDON1|JPD CTSC|NA|CTSC|CTSC|NA|NA|JPD CTSC,JPD Haim-Munk syndrome Autosomal recessive 602365 245010 11 NA +TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Melanoma, cutaneous malignant, susceptibility to, 8 None 606933 601800 11 NA TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Skin/hair/eye pigmentation 3, light/dark/freckling skin None 606933 601800 11 NA TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Skin/hair/eye pigmentation 3, blue/green eyes None 606933 601800 11 NA TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Waardenburg syndrome/albinism, digenic Autosomal dominant 606933 103470 11 NA TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Albinism, oculocutaneous, type IB None 606933 606952 11 NA TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Albinism, oculocutaneous, type IA Autosomal recessive 606933 203100 11 NA -TYR|SHEP3|CMM8|OCA1A|ATN TYR|NA|NA|TYR|NA TYR Melanoma, cutaneous malignant, susceptibility to, 8 None 606933 601800 11 NA MTNR1B MTNR1B MTNR1B Diabetes mellitus, type 2, susceptibility to Autosomal dominant 600804 125853 11 NA MED17|CRSP6|CRSP77|TRAP80|DRIP80 MED17|MED17|MED17|MED17|MED17 MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy Autosomal recessive 603810 613668 11 NA MRE11A|MRE11|ATLD MRE11A|MRE11A|MRE11A MRE11A Ataxia-telangiectasia-like disorder Autosomal recessive 600814 604391 11 like gene on 7q11.2-q11.3 @@ -3623,41 +3659,42 @@ MTMR2|CMT4B1 MTMR2|NA MTMR2 Charcot-Marie-Tooth disease, type 4B1 Autosomal rece MAML2|MAM3 MAML2|MAML2 MAML2 Mucoepidermoid salivary gland carcinoma None 607537 NA 11 t(11;19) PGR PGR PGR ?Progesterone resistance Autosomal recessive 607311 264080 11 11q13 = earlier regionalization TRPC6|TRP6|FSGS2 TRPC6|TRPC6|TRPC6 TRPC6 Glomerulosclerosis, focal segmental, 2 None 603652 603965 11 NA -YAP1|COB1 YAP1|NA YAP1 Coloboma, ocular Autosomal dominant 606608 120433 11 NA YAP1|COB1 YAP1|NA YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Autosomal dominant 606608 120433 11 NA +YAP1|COB1 YAP1|NA YAP1 Coloboma, ocular Autosomal dominant 606608 120433 11 NA MMP20|AI2A2 MMP20,MMP25|NA MMP25,MMP20 Amelogenesis imperfecta, type IIA2 Autosomal recessive 604629 612529 11 NA -MMP1|CLG MMP1|MMP1,PLEKHG2 PLEKHG2,MMP1 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of Autosomal recessive 120353 226600 11 NA MMP1|CLG MMP1|MMP1,PLEKHG2 PLEKHG2,MMP1 COPD, rate of decline of lung function in None 120353 606963 11 NA +MMP1|CLG MMP1|MMP1,PLEKHG2 PLEKHG2,MMP1 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of Autosomal recessive 120353 226600 11 NA MMP3|STMY1|CHDS6 MMP3|MMP3|NA MMP3 Coronary heart disease, susceptibility to, 6 None 185250 614466 11 NA -MMP13|CLG3|MANDP1 MMP13|MMP13|NA MMP13 Metaphyseal anadysplasia 1 Autosomal dominant 600108 602111 11 NA -MMP13|CLG3|MANDP1 MMP13|MMP13|NA MMP13 Spondyloepimetaphyseal dysplasia, Missouri type Autosomal dominant 600108 602111 11 NA +MMP13|CLG3|MANDP1|MDST MMP13|MMP13|NA|NA MMP13 Spondyloepimetaphyseal dysplasia, Missouri type Autosomal dominant 600108 602111 11 NA +MMP13|CLG3|MANDP1|MDST MMP13|MMP13|NA|NA MMP13 Metaphyseal dysplasia, Spahr type Autosomal recessive 600108 250400 11 NA +MMP13|CLG3|MANDP1|MDST MMP13|MMP13|NA|NA MMP13 Metaphyseal anadysplasia 1 Autosomal dominant 600108 602111 11 NA DYNC2H1|DNCH2|DHC2|ATD3|SRPS2B|SRTD3 DYNC2H1|DYNC2H1|DYNC2H1|NA|NA|NA DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly Digenic recessive; Autosomal recessive 603297 613091 11 1 patient showed heterozygous NEK2 and DYNC2H1 mutations CASP12|CASP12P1 CASP12|CASP12 CASP12 Sepsis, susceptibility to None 608633 NA 11 NA ACAT1 ACAT1 ACAT1 Alpha-methylacetoacetic aciduria Autosomal recessive 607809 203750 11 cluster: cen-STMY2-CLG-STMY1-ter +ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 Lymphoma, mantle cell, somatic None 607585 NA 11 NA ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 Lymphoma, B-cell non-Hodgkin, somatic None 607585 NA 11 NA ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 Ataxia-telangiectasia Autosomal recessive 607585 208900 11 NA ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 Breast cancer, susceptibility to Autosomal dominant 607585 114480 11 NA ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 T-cell prolymphocytic leukemia, somatic None 607585 NA 11 NA -ATM|ATA|AT1 ATM|ATM|AGTR1,SLC33A1 AGTR1,ATM,SLC33A1 Lymphoma, mantle cell, somatic None 607585 NA 11 NA EXPH5|SLAC2B|KIAA0624 EXPH5|NA|NA EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive Autosomal recessive 612878 615028 11 NA RDX|DFNB24 RDX|RDX RDX Deafness, autosomal recessive 24 Autosomal recessive 179410 611022 11 NA GTS GTS GTS Tourette syndrome Autosomal dominant 137580 137580 11 several loci suspected (e.g., 17q25) JBS JBS JBS Jacobsen syndrome Isolated cases 147791 147791 11 contiguous gene deletion syndrome PPP2R1B PPP2R1B PPP2R1B Lung cancer Autosomal recessive 603113 211980 11 NA -ALG9|DIBD1|CDG1L|GIKANIS ALG9|ALG9|NA|NA ALG9 Congenital disorder of glycosylation, type Il None 606941 608776 11 NA ALG9|DIBD1|CDG1L|GIKANIS ALG9|ALG9|NA|NA ALG9 Gillessen-Kaesbach-Nishimura syndrome Autosomal recessive 606941 263210 11 NA -CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related Autosomal recessive 123590 613869 11 NA -CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Myopathy, myofibrillar, 2 Autosomal dominant 123590 608810 11 NA +ALG9|DIBD1|CDG1L|GIKANIS ALG9|ALG9|NA|NA ALG9 Congenital disorder of glycosylation, type Il None 606941 608776 11 NA CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Cataract 16, multiple types Autosomal dominant; Autosomal recessive 123590 613763 11 NA CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Cardiomyopathy, dilated, 1II Autosomal dominant 123590 615184 11 NA +CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related Autosomal recessive 123590 613869 11 NA +CRYAB|CRYA2|CTPP2|CMD1II|CTRCT16|MFM2 CRYAB|CRYAB|NA|NA|NA|NA CRYAB Myopathy, myofibrillar, 2 Autosomal dominant 123590 608810 11 NA DLAT|PDCE2 DLAT|NA DLAT Pyruvate dehydrogenase E2 deficiency Autosomal recessive 608770 245348 11 NA -SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Merkel cell carcinoma, somatic None 602690 NA 11 NA -SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Cowden syndrome 3 None 602690 615106 11 NA -SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Pheochromocytoma Autosomal dominant 602690 171300 11 NA SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Carcinoid tumors, intestinal Autosomal dominant 602690 114900 11 NA SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Paragangliomas 1, with or without deafness Autosomal dominant 602690 168000 11 NA SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Paraganglioma and gastric stromal sarcoma None 602690 606864 11 NA SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Mitochondrial complex II deficiency Autosomal recessive 602690 252011 11 NA +SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Merkel cell carcinoma, somatic None 602690 NA 11 NA +SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Cowden syndrome 3 None 602690 615106 11 NA +SDHD|PGL1|CWS3 SDHD|SDHD|NA SDHD Pheochromocytoma Autosomal dominant 602690 171300 11 NA PTS PTS PTS Hyperphenylalaninemia, BH4-deficient, A Autosomal recessive 612719 261640 11 NA ANKK1 ANKK1 ANKK1 Dopamine receptor D2, reduced brain density of None 608774 NA 11 NA ZBTB16|ZNF145|PLZF ZBTB16|ZBTB16|ZBTB16 ZBTB16 Skeletal defects, genital hypoplasia, and mental retardation Autosomal recessive 176797 612447 11 fused with RARA in APL of t(11;17) type @@ -3667,15 +3704,15 @@ AAT1|FAA1 MAATS1|NA MAATS1 Aortic aneurysm, familial thoracic 1 None 607086 6070 APOA5 APOA5 APOA5 Hypertriglyceridemia, susceptibility to Autosomal dominant 606368 145750 11 proximal to APOA1, APOC3, APOA4 APOA5 APOA5 APOA5 Hyperchylomicronemia, late-onset Autosomal dominant 606368 144650 11 proximal to APOA1, APOC3, APOA4 APOC3|HALP2 APOC3|NA APOC3 Apolipoprotein C-III deficiency None 107720 614028 11 2.6kb 3' to APOA1 -APOA1 APOA1 APOA1 Hypoalphalipoproteinemia None 107680 604091 11 NA -APOA1 APOA1 APOA1 Corneal clouding, autosomal recessive None 107680 NA 11 NA APOA1 APOA1 APOA1 ApoA-I and apoC-III deficiency, combined None 107680 NA 11 NA APOA1 APOA1 APOA1 Amyloidosis, 3 or more types Autosomal dominant 107680 105200 11 NA +APOA1 APOA1 APOA1 Hypoalphalipoproteinemia None 107680 604091 11 NA +APOA1 APOA1 APOA1 Corneal clouding, autosomal recessive None 107680 NA 11 NA CEP164|KIAA1052 CEP164|CEP164 CEP164 Nephronophthisis 15 Autosomal recessive 614848 614845 11 NA FXYD2|ATP1G1|HOMG2 FXYD2|FXYD2|FXYD2 FXYD2 Hypomagnesemia 2, renal Autosomal dominant 601814 154020 11 NA IL10RA|IL10R|IBD28 IL10RA|IL10RA|NA IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive Autosomal recessive 146933 613148 11 NA -SCN4B|LQT10|ATFB17 SCN4B|SCN4B|NA SCN4B Long QT syndrome-10 Autosomal dominant 608256 611819 11 NA SCN4B|LQT10|ATFB17 SCN4B|SCN4B|NA SCN4B Atrial fibrillation, familial, 17 Autosomal dominant 608256 611819 11 NA +SCN4B|LQT10|ATFB17 SCN4B|SCN4B|NA SCN4B Long QT syndrome-10 Autosomal dominant 608256 611819 11 NA SCN2B|ATFB14 SCN2B|NA SCN2B Atrial fibrillation, familial, 14 Autosomal dominant 601327 615378 11 NA CD3E|IMD18 CD3E|NA CD3E Immunodeficiency 18, SCID variant Autosomal recessive 186830 615615 11 NA CD3E|IMD18 CD3E|NA CD3E Immunodeficiency 18 Autosomal recessive 186830 615615 11 NA @@ -3689,10 +3726,10 @@ SLC37A4|G6PT1 SLC37A4|SLC37A4 SLC37A4 Glycogen storage disease Ib Autosomal rece VPS11|HLD12 VPS11|NA VPS11 Leukodystrophy, hypomyelinating, 12 Autosomal recessive 608549 616683 11 NA HMBS|PBGD|UPS HMBS|HMBS|HMBS HMBS Porphyria, acute intermittent, nonerythroid variant Autosomal dominant 609806 176000 11 NA HMBS|PBGD|UPS HMBS|HMBS|HMBS HMBS Porphyria, acute intermittent Autosomal dominant 609806 176000 11 NA -DPAGT1|DPAGT2|DGPT|CDG1J|CMSTA2|CMS13 DPAGT1|DPAGT1|DPAGT1|NA|NA|NA DPAGT1 Congenital disorder of glycosylation, type Ij Autosomal recessive 191350 608093 11 NA DPAGT1|DPAGT2|DGPT|CDG1J|CMSTA2|CMS13 DPAGT1|DPAGT1|DPAGT1|NA|NA|NA DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates Autosomal recessive 191350 614750 11 NA +DPAGT1|DPAGT2|DGPT|CDG1J|CMSTA2|CMS13 DPAGT1|DPAGT1|DPAGT1|NA|NA|NA DPAGT1 Congenital disorder of glycosylation, type Ij Autosomal recessive 191350 608093 11 NA CBL|CBL2|NSLL CBL|CBL|NA CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Autosomal dominant 165360 613563 11 mutation identified in 1 JMML family -CBL|CBL2|NSLL CBL|CBL|NA CBL ?Juvenile myelomonocytic leukemia Autosomal dominant; Somatic mutation 165360 607785 11 mutation identified in 1 JMML family +CBL|CBL2|NSLL CBL|CBL|NA CBL ?Juvenile myelomonocytic leukemia Somatic mutation; Autosomal dominant 165360 607785 11 mutation identified in 1 JMML family C1QTNF5|CTRP5|LORD C1QTNF5,MFRP|C1QTNF5|C1QTNF5 MFRP,C1QTNF5 Retinal degeneration, late-onset, autosomal dominant Autosomal dominant 608752 605670 11 NA MFRP|MCOP5|NNO2 MFRP|NA|MFRP MFRP Nanophthalmos 2 None 606227 609549 11 NA MFRP|MCOP5|NNO2 MFRP|NA|MFRP MFRP Microphthalmia, isolated 5 Autosomal recessive 606227 611040 11 NA @@ -3701,7 +3738,6 @@ NECTIN1|PVRL1|HVEC|PVRR1|PRR1|ED4|OFC7|CLPED1 NA|PVRL1|PVRL1|PVRL1|PVRL1|PVRL1|P TECTA|DFNA8|DFNA12|DFNB21 TECTA|TECTA|TECTA|TECTA TECTA Deafness, autosomal recessive 21 Autosomal recessive 602574 603629 11 NA TECTA|DFNA8|DFNA12|DFNB21 TECTA|TECTA|TECTA|TECTA TECTA Deafness, autosomal dominant 8/12 Autosomal dominant 602574 601543 11 NA SC5DL|ERG3 SC5D|NA SC5D Lathosterolosis Autosomal recessive 602286 607330 11 NA -SORL1|LR11|SORLA SORL1|SORL1|NA SORL1 Alzheimer disease, pathogenesis, association with Autosomal dominant 602005 104300 11 NA CLMP|ASAM|ACAM|CSBS CLMP|CLMP|CLMP|NA CLMP Congenital short bowel syndrome Autosomal recessive 611693 615237 11 NA SCN3B|SCNB3|BRGDA7|ATFB16 SCN3B|NA|NA|NA SCN3B Brugada syndrome 7 Autosomal dominant 608214 613120 11 NA SCN3B|SCNB3|BRGDA7|ATFB16 SCN3B|NA|NA|NA SCN3B Atrial fibrillation, familial, 16 Autosomal dominant 608214 613120 11 NA @@ -3711,13 +3747,14 @@ HEPACAM|MLC2A|MLC2B HEPACAM|NA|NA HEPACAM Megalencephalic leukoencephalopathy wi HEPACAM|MLC2A|MLC2B HEPACAM|NA|NA HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A Autosomal recessive 611642 613925 11 NA STT3A|ITM1|TMC STT3A|STT3A|STT3A STT3A ?Congenital disorder of glycosylation, type Iw Autosomal recessive 601134 615596 11 mutation identified in 1 family HYLS1|FLJ32915 HYLS1|HYLS1 HYLS1 Hydrolethalus syndrome Autosomal recessive 610693 236680 11 NA +PUS3|MRT55 PUS3|NA PUS3 ?Mental retardation, autosomal recessive 55 Autosomal recessive 616283 617051 11 mutation identified in 1 MRT55 family CDON|CDO|HPE11 CDON|CDON|NA CDON Holoprosencephaly 11 Autosomal dominant; Isolated cases 608707 614226 11 NA -FOXRED1 FOXRED1 FOXRED1 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 613622 252010 11 NA +FOXRED1 FOXRED1 FOXRED1 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 613622 252010 11 NA FOXRED1 FOXRED1 FOXRED1 Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial; Autosomal recessive 613622 256000 11 NA -TIRAP|BACTS1 TIRAP|NA TIRAP Bacteremia, protection against None 606252 614382 11 NA -TIRAP|BACTS1 TIRAP|NA TIRAP Tuberculosis, protection against None 606252 607948 11 NA TIRAP|BACTS1 TIRAP|NA TIRAP Pneumococcal disease, invasive, protection against None 606252 610799 11 NA TIRAP|BACTS1 TIRAP|NA TIRAP Malaria, protection against None 606252 611162 11 NA +TIRAP|BACTS1 TIRAP|NA TIRAP Bacteremia, protection against None 606252 614382 11 NA +TIRAP|BACTS1 TIRAP|NA TIRAP Tuberculosis, protection against None 606252 607948 11 NA DCPS|HINT5|DCS1|ARS DCPS|NA|NA|RIEG2,SLURP1 DCPS,RIEG2,SLURP1 Al-Raqad syndrome Autosomal recessive 610534 616459 11 NA KIRREL3|NEPH2|KIAA1867|KIRRE|MRD4 KIRREL3|KIRREL3|KIRREL3|KIRREL3|NA KIRREL3 Mental retardation, autosomal dominant 4 None 607761 612581 11 NA KCNJ1|ROMK1 KCNJ1|KCNJ1 KCNJ1 Bartter syndrome, type 2 Autosomal recessive 600359 241200 11 NA @@ -3728,42 +3765,42 @@ DFNB20 DFNB20 DFNB20 Deafness, autosomal recessive 20 Autosomal recessive 604060 OPCML OPCML OPCML Ovarian cancer, somatic None 600632 167000 11 NA JAM3 JAM3 JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Autosomal recessive 606871 613730 11 NA ACAD8 ACAD8 ACAD8 Isobutyryl-CoA dehydrogenase deficiency None 604773 611283 11 NA -WNK1|PRKWNK1|KDP|PHA2C|HSAN2|HSN2 WNK1|WNK1|NA|NA|WNK1|WNK1 WNK1 Pseudohypoaldosteronism, type IIC Autosomal dominant 605232 614492 12 NA WNK1|PRKWNK1|KDP|PHA2C|HSAN2|HSN2 WNK1|WNK1|NA|NA|WNK1|WNK1 WNK1 Neuropathy, hereditary sensory and autonomic, type II Autosomal recessive 605232 201300 12 NA +WNK1|PRKWNK1|KDP|PHA2C|HSAN2|HSN2 WNK1|WNK1|NA|NA|WNK1|WNK1 WNK1 Pseudohypoaldosteronism, type IIC Autosomal dominant 605232 614492 12 NA CACNA2D4|RCD4 CACNA2D4|NA CACNA2D4 Retinal cone dystrophy 4 None 608171 610478 12 NA CACNA1C|CACNL1A1|CCHL1A1|TS CACNA1C|CACNA1C|CACNA1C|CACNA1C,TBXAS1,TYMS TYMS,CACNA1C,TBXAS1 Timothy syndrome Autosomal dominant 114205 601005 12 NA CACNA1C|CACNL1A1|CCHL1A1|TS CACNA1C|CACNA1C|CACNA1C|CACNA1C,TBXAS1,TYMS TYMS,CACNA1C,TBXAS1 Brugada syndrome 3 None 114205 611875 12 NA CCND2|MPPH3 CCND2|NA CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Autosomal dominant 123833 615938 12 NA +FGF23|ADHR|HPDR2|PHPTC FGF23|NA|NA|NA FGF23 Tumoral calcinosis, hyperphosphatemic, familial Autosomal recessive 605380 211900 12 NA FGF23|ADHR|HPDR2|PHPTC FGF23|NA|NA|NA FGF23 Osteomalacia, tumor-induced None 605380 NA 12 NA FGF23|ADHR|HPDR2|PHPTC FGF23|NA|NA|NA FGF23 Hypophosphatemic rickets, autosomal dominant Autosomal dominant 605380 193100 12 NA -FGF23|ADHR|HPDR2|PHPTC FGF23|NA|NA|NA FGF23 Tumoral calcinosis, hyperphosphatemic, familial Autosomal recessive 605380 211900 12 NA NDUFA9 NDUFA9 NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial; Autosomal recessive 603834 256000 12 NA KCNA1|AEMK|EA1 KCNA1|KCNA1|NA KCNA1 Episodic ataxia/myokymia syndrome Autosomal dominant 176260 160120 12 close to VWF KCNA5|ATFB7 KCNA5|NA KCNA5 Atrial fibrillation, familial, 7 Autosomal dominant 176267 612240 12 NA +VWF|F8VWF VWF|VWF VWF von Willibrand disease, type 3 Autosomal recessive 613160 277480 12 pseudogene on chr. 22 VWF|F8VWF VWF|VWF VWF von Willebrand disease, types 2A, 2B, 2M, and 2N Autosomal dominant; Autosomal recessive 613160 613554 12 pseudogene on chr. 22 VWF|F8VWF VWF|VWF VWF von Willebrand disease, type 1 Autosomal dominant 613160 193400 12 pseudogene on chr. 22 -VWF|F8VWF VWF|VWF VWF von Willibrand disease, type 3 Autosomal recessive 613160 277480 12 pseudogene on chr. 22 TNFRSF1A|TNFR1|TNFAR|FPF|MS5 TNFRSF1A|TNFRSF1A|TNFRSF1A|NA|NA TNFRSF1A Multiple sclerosis, susceptibility to, 5 None 191190 614810 12 NA TNFRSF1A|TNFR1|TNFAR|FPF|MS5 TNFRSF1A|TNFRSF1A|TNFRSF1A|NA|NA TNFRSF1A Periodic fever, familial Autosomal dominant 191190 142680 12 NA -SCNN1A|BESC2 SCNN1A|NA SCNN1A Bronchiectasis with or without elevated sweat chloride 2 Autosomal dominant 600228 613021 12 NA SCNN1A|BESC2 SCNN1A|NA SCNN1A Pseudohypoaldosteronism, type I Autosomal recessive 600228 264350 12 NA +SCNN1A|BESC2 SCNN1A|NA SCNN1A Bronchiectasis with or without elevated sweat chloride 2 Autosomal dominant 600228 613021 12 NA TNFRSF7|CD27|S152.LPFS2 CD27|CD27|NA CD27 Lymphoproliferative syndrome 2 Autosomal recessive 186711 615122 12 NA VAMP1|SYB1|SPAX1 VAMP1|VAMP1|SAX1 VAMP1,SAX1 Spastic ataxia 1, autosomal dominant Autosomal dominant 185880 108600 12 NA CD4 CD4 CD4 OKT4 epitope deficiency None 186940 613949 12 CD = \'cluster of differentiation\' = nomenclature of leukocyte differentiation antigens GNB3|CSNB1H GNB3|NA GNB3 Hypertension, essential, susceptibility to Multifactorial 139130 145500 12 NA -GNB3|CSNB1H GNB3|NA GNB3 Night blindness, congenital stationary, type 1H None 139130 617024 12 NA +GNB3|CSNB1H GNB3|NA GNB3 Night blindness, congenital stationary, type 1H Autosomal recessive 139130 617024 12 NA TPI1|TPID TPI1|NA TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency Autosomal recessive 190450 615512 12 NA ATN1|DRPLA|HRS|NOD ATN1|ATN1|SRSF5|NA SRSF5,ATN1 Dentatorubro-pallidoluysian atrophy Autosomal dominant 607462 125370 12 NA C12orf57|C10|TEMTYS C12orf57|C12orf57|NA C12orf57 Temtamy syndrome Autosomal recessive 615140 218340 12 NA EMG1|NEP1|C2F|BWCNS EMG1|EMG1|EMG1|NA EMG1 Bowen-Conradi syndrome Autosomal recessive 611531 211180 12 NA C1S C1S C1S C1s deficiency None 120580 613783 12 NA C1R C1R C1R C1r/C1s deficiency, combined Autosomal recessive 613785 216950 12 NA +PEX5|PXR1|PTS1R|PBD2A|PBD2B|RCDP5 PEX5|PEX5|PEX5|NA|NA|NA PEX5 Peroxisome biogenesis disorder 2A (Zellweger) Autosomal recessive 600414 214110 12 NA PEX5|PXR1|PTS1R|PBD2A|PBD2B|RCDP5 PEX5|PEX5|PEX5|NA|NA|NA PEX5 Rhizomelic chondrodysplasia punctata, type 5 Autosomal recessive 600414 616716 12 NA PEX5|PXR1|PTS1R|PBD2A|PBD2B|RCDP5 PEX5|PEX5|PEX5|NA|NA|NA PEX5 Peroxisome biogenesis disorder 2B Autosomal recessive 600414 202370 12 NA -PEX5|PXR1|PTS1R|PBD2A|PBD2B|RCDP5 PEX5|PEX5|PEX5|NA|NA|NA PEX5 Peroxisome biogenesis disorder 2A (Zellweger) Autosomal recessive 600414 214110 12 NA +GDF3|KFS3|MCOPCB6|MCOP7 GDF3|NA|NA|NA GDF3 Klippel-Feil syndrome 3, autosomal dominant None 606522 613702 12 NA GDF3|KFS3|MCOPCB6|MCOP7 GDF3|NA|NA|NA GDF3 Microphthalmia, isolated 7 None 606522 613704 12 NA GDF3|KFS3|MCOPCB6|MCOP7 GDF3|NA|NA|NA GDF3 Microphthalmia with coloboma 6 None 606522 613703 12 NA -GDF3|KFS3|MCOPCB6|MCOP7 GDF3|NA|NA|NA GDF3 Klippel-Feil syndrome 3, autosomal dominant None 606522 613702 12 NA NECAP1|EIEE21 NECAP1|NA NECAP1 ?Epileptic encephalopathy, early infantile, 21 Autosomal recessive 611623 615833 12 mutation identified in 1 EIEE21 family AICDA|AID|HIGM2 AICDA|AICDA|AICDA AICDA Immunodeficiency with hyper-IgM, type 2 Autosomal recessive 605257 605258 12 NA MFAP5|MAGP2|AAT9 MFAP5|MFAP5|NA MFAP5 Aortic aneurysm, familial thoracic 9 Autosomal dominant 601103 616166 12 NA @@ -3775,15 +3812,15 @@ IBD2 IBD2,SEL1L SEL1L,IBD2 Inflammatory bowel disease 2 None 601458 601458 12 ma CLEC7A|CLECSF12|DECTIN1|CANDF4 CLEC7A|CLEC7A|NA|NA CLEC7A Aspergillosis, susceptibility to None 606264 614079 12 in natural killer gene complex CLEC7A|CLECSF12|DECTIN1|CANDF4 CLEC7A|CLEC7A|NA|NA CLEC7A Candidiasis, familial, 4, autosomal recessive Autosomal recessive 606264 613108 12 in natural killer gene complex OLR1|LOX1 OLR1|NA OLR1 Myocardial infarction, susceptibility to None 602601 608446 12 NA -ETV6|TEL|THC5 ETV6|ETV6|NA ETV6 Leukemia, acute myeloid, somatic None 600618 601626 12 fused to PDGFRB or AML1 in leukemia ETV6|TEL|THC5 ETV6|ETV6|NA ETV6 Thrombocytopenia 5 Autosomal dominant 600618 616216 12 fused to PDGFRB or AML1 in leukemia -LRP6|ADCAD2|STHAG7 LRP6|LRP6|NA LRP6 Tooth agenesis, selective, 7 Autosomal dominant 603507 616724 12 NA +ETV6|TEL|THC5 ETV6|ETV6|NA ETV6 Leukemia, acute myeloid, somatic None 600618 601626 12 fused to PDGFRB or AML1 in leukemia LRP6|ADCAD2|STHAG7 LRP6|LRP6|NA LRP6 Coronary artery disease, autosomal dominant, 2 Autosomal dominant 603507 610947 12 NA +LRP6|ADCAD2|STHAG7 LRP6|LRP6|NA LRP6 Tooth agenesis, selective, 7 Autosomal dominant 603507 616724 12 NA CDKN1B|KIP1|CDKN4|MEN4 CDKN1B|CDKN1B|NA|NA CDKN1B Multiple endocrine neoplasia, type IV Autosomal dominant 600778 610755 12 NA -GRIN2B|NMDAR2B|MRD6|EIEE27 GRIN2B|GRIN2B|NA|NA GRIN2B Epileptic encephalopathy, early infantile, 27 Autosomal dominant 138252 616139 12 NA GRIN2B|NMDAR2B|MRD6|EIEE27 GRIN2B|GRIN2B|NA|NA GRIN2B Mental retardation, autosomal dominant 6 None 138252 613970 12 NA -GUCY2C|GUC2C|DIAR6|MECIL GUCY2C|GUCY2C|NA|NA GUCY2C Diarrhea 6 Autosomal dominant 601330 614616 12 NA +GRIN2B|NMDAR2B|MRD6|EIEE27 GRIN2B|GRIN2B|NA|NA GRIN2B Epileptic encephalopathy, early infantile, 27 Autosomal dominant 138252 616139 12 NA GUCY2C|GUC2C|DIAR6|MECIL GUCY2C|GUCY2C|NA|NA GUCY2C Meconium ileus Autosomal recessive 601330 614665 12 NA +GUCY2C|GUC2C|DIAR6|MECIL GUCY2C|GUCY2C|NA|NA GUCY2C Diarrhea 6 Autosomal dominant 601330 614616 12 NA ART4|DO|DOK1 ART4|ART4|ART4,DOK1 DOK1,ART4 Blood group, Dombrock None 110600 616060 12 NA MGP MGP MGP Keutel syndrome Autosomal recessive 154870 245150 12 NA PDE6H|RCD3|ACHM6 PDE6H|NA|NA PDE6H Retinal cone dystrophy 3 Autosomal dominant; Autosomal recessive 601190 610024 12 NA @@ -3800,24 +3837,24 @@ ABCC9|SUR2|CMD1O|ATFB12|CANTU ABCC9|ABCC9|ABCC9|NA|NA ABCC9 Cardiomyopathy, dila ABCC9|SUR2|CMD1O|ATFB12|CANTU ABCC9|ABCC9|ABCC9|NA|NA ABCC9 Atrial fibrillation, familial, 12 Autosomal dominant 601439 614050 12 NA SOX5|LAMSHF SOX5|NA SOX5 Lamb-Shaffer syndrome Autosomal dominant 604975 616803 12 some LAMSHF patients have 12p12 deletions BCAT1|BCT1 BCAT1|BCAT1 BCAT1 ?Hyperleucinemia-isoleucinemia or hypervalinemia None 113520 NA 12 NA +KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic None 190070 163200 12 pseudogene KRAS1P on 6p12-p11 +KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Gastric cancer, somatic None 190070 137215 12 pseudogene KRAS1P on 6p12-p11 +KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS RAS-associated autoimmune leukoproliferative disorder Autosomal dominant 190070 614470 12 pseudogene KRAS1P on 6p12-p11 +KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Cardiofaciocutaneous syndrome 2 None 190070 615278 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Pancreatic carcinoma, somatic None 190070 260350 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Breast cancer, somatic None 190070 114480 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Noonan syndrome 3 None 190070 609942 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Bladder cancer, somatic None 190070 109800 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Lung cancer, somatic None 190070 211980 12 pseudogene KRAS1P on 6p12-p11 KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Leukemia, acute myeloid Autosomal dominant 190070 601626 12 pseudogene KRAS1P on 6p12-p11 -KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic None 190070 163200 12 pseudogene KRAS1P on 6p12-p11 -KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Gastric cancer, somatic None 190070 137215 12 pseudogene KRAS1P on 6p12-p11 -KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS RAS-associated autoimmune leukoproliferative disorder Autosomal dominant 190070 614470 12 pseudogene KRAS1P on 6p12-p11 -KRAS|KRAS2|RASK2|NS|CFC2|RALD KRAS|KRAS|NA|GNL3,SPINK5|NA|NA GNL3,SPINK5,KRAS Cardiofaciocutaneous syndrome 2 None 190070 615278 12 pseudogene KRAS1P on 6p12-p11 BHLHE41|BHLHB3|DEC2|SHARP1 BHLHE41|BHLHE41|BHLHE41|BHLHE41 BHLHE41 Short sleeper Autosomal dominant 606200 612975 12 NA -AD5 AD5 AD5 Alzheimer disease-5 Autosomal dominant 602096 104300 12 NA +AD5 AD5 AD5 Alzheimer disease-5 Autosomal dominant 602096 602096 12 NA ITPR2|ANHD ITPR2|NA ITPR2 ?Anhidrosis, isolated, with normal sweat glands Autosomal recessive 600144 106190 12 mutation has been identified in 1 ANHD family -PTHLH|BDE2 PTHLH|NA PTHLH Brachydactyly, type E2 Autosomal dominant 168470 613382 12 NA PTHLH|BDE2 PTHLH|NA PTHLH Humoral hypercalcemia of malignancy None 168470 NA 12 NA +PTHLH|BDE2 PTHLH|NA PTHLH Brachydactyly, type E2 Autosomal dominant 168470 613382 12 NA DDX11|CHLR1|KRG2 DDX11|DDX11|DDX11 DDX11 Warsaw breakage syndrome Autosomal recessive 601150 613398 12 NA FGD4|FRABIN|CMT4H FGD4|NA|FGD4 FGD4 Charcot-Marie-Tooth disease, type 4H Autosomal recessive 611104 609311 12 NA -DNM1L|DRP1|DVLP|DYMPLE|EMPF DNM1L|DENR,DNM1L,UTRN|DNM1L|DNM1L|NA DNM1L,UTRN,DENR Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Autosomal dominant 603850 614388 12 NA +DNM1L|DRP1|DVLP|DYMPLE|EMPF1 DNM1L|DENR,DNM1L,UTRN|DNM1L|DNM1L|NA DNM1L,UTRN,DENR Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1 Autosomal dominant 603850 614388 12 NA YARS2|TYRRS|MLASA2 YARS2|NA|NA YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2 Autosomal recessive 610957 613561 12 NA PKP2|ARVD9 PKP2|NA PKP2 Arrhythmogenic right ventricular dysplasia 9 Autosomal dominant 602861 609040 12 pseudogene on 12p13 ALG10|KCR1 ALG10|ALG10B ALG10,ALG10B Long QT syndrome, acquired, reduced susceptibility to Autosomal dominant 603313 613688 12 NA @@ -3826,15 +3863,21 @@ KIF21A|KIAA1708|FEOM1|CFEOM1|CFEOM3B KIF21A|NA|KIF21A|NA|NA KIF21A Fibrosis of e LRRK2|PARK8 LRRK2|LRRK2 LRRK2 Parkinson disease 8 Autosomal dominant 609007 607060 12 NA CNTN1|MYPCN CNTN1|NA CNTN1 ?Myopathy, congenital, Compton-North Autosomal recessive 600016 612540 12 mutation identified in 1 MYPCN family PRICKLE1|RILP|EPM1B PRICKLE1|RILP|PRICKLE1 PRICKLE1,RILP Epilepsy, progressive myoclonic 1B Autosomal recessive 608500 612437 12 NA -IRAK4|REN64|IPD1 IRAK4|NA|NA IRAK4 Invasive pneumococcal disease, recurrent isolated, 1 None 606883 610799 12 NA IRAK4|REN64|IPD1 IRAK4|NA|NA IRAK4 IRAK4 deficiency None 606883 607676 12 NA +IRAK4|REN64|IPD1 IRAK4|NA|NA IRAK4 Invasive pneumococcal disease, recurrent isolated, 1 None 606883 610799 12 NA ANO6|TMEM16F|SCTS|BDPLT7 ANO6|ANO6|NA|NA ANO6 Scott syndrome Autosomal recessive 608663 262890 12 NA DFNA48 DFNA48,MYO1A DFNA48,MYO1A Deafness, autosomal dominant 48 Autosomal dominant 607841 607841 12 NA ENUR2 ENUR2 ENUR2 Enuresis, nocturnal, 2 Autosomal dominant 600808 600808 12 NA -MRT25 MRT25 MRT25 Mental retardation, autosomal recessive 25 None 614346 614346 12 between rs4760658 and rs1882033 +MRT25 MRT25 MRT25 Mental retardation, autosomal recessive 25 Autosomal recessive 614346 614346 12 between rs4760658 and rs1882033 VDR VDR VDR Rickets, vitamin D-resistant, type IIA Autosomal recessive 601769 277440 12 NA VDR VDR VDR ?Osteoporosis, involutional Autosomal dominant 601769 166710 12 NA -COL2A1 COL2A1 COL2A1 Stickler sydrome, type I, nonsyndromic ocular None 120140 609508 12 NA +COL2A1 COL2A1 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia None 120140 NA 12 NA +COL2A1 COL2A1 COL2A1 Kniest dysplasia Autosomal dominant 120140 156550 12 NA +COL2A1 COL2A1 COL2A1 SED congenita Autosomal dominant 120140 183900 12 NA +COL2A1 COL2A1 COL2A1 Stickler syndrome, type I Autosomal dominant 120140 108300 12 NA +COL2A1 COL2A1 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness Autosomal dominant 120140 132450 12 NA +COL2A1 COL2A1 COL2A1 Platyspondylic skeletal dysplasia, Torrance type Autosomal dominant 120140 151210 12 NA +COL2A1 COL2A1 COL2A1 Stickler sydrome, type I, nonsyndromic ocular Autosomal dominant 120140 609508 12 NA COL2A1 COL2A1 COL2A1 Czech dysplasia Autosomal dominant 120140 609162 12 NA COL2A1 COL2A1 COL2A1 Otospondylomegaepiphyseal dysplasia Autosomal recessive 120140 215150 12 NA COL2A1 COL2A1 COL2A1 Spondyloperipheral dysplasia Autosomal dominant 120140 271700 12 NA @@ -3844,17 +3887,12 @@ COL2A1 COL2A1 COL2A1 Spondyloepiphyseal dysplasia, Stanescu type Autosomal domin COL2A1 COL2A1 COL2A1 Achondrogenesis, type II or hypochondrogenesis Autosomal dominant 120140 200610 12 NA COL2A1 COL2A1 COL2A1 Legg-Calve-Perthes disease Autosomal dominant 120140 150600 12 NA COL2A1 COL2A1 COL2A1 SMED Strudwick type Autosomal dominant 120140 184250 12 NA -COL2A1 COL2A1 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia None 120140 NA 12 NA -COL2A1 COL2A1 COL2A1 Kniest dysplasia Autosomal dominant 120140 156550 12 NA -COL2A1 COL2A1 COL2A1 SED congenita Autosomal dominant 120140 183900 12 NA -COL2A1 COL2A1 COL2A1 Stickler syndrome, type I Autosomal dominant 120140 108300 12 NA -COL2A1 COL2A1 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness Autosomal dominant 120140 132450 12 NA -COL2A1 COL2A1 COL2A1 Platyspondylic skeletal dysplasia, Torrance type Autosomal dominant 120140 151210 12 NA PFKM|GSD7 PFKM|NA PFKM Glycogen storage disease VII Autosomal recessive 610681 232800 12 incorrectly assigned to chr.1 SNORA2C|SNORA34|ACA34|MIR1291 NA|SNORA34|SNORA34|MIR1291 MIR1291,SNORA34 Small nucleolar RNA, H/ACA box, 2C None 615487 615487 12 MIR1291 in intron of SNORA34 ADCY6|LCCS8 ADCY6|NA ADCY6 ?Lethal congenital contracture syndrome 8 Autosomal recessive 600294 616287 12 mutation identified in 1 LCCS8 family CCDC65|CILD27 CCDC65|CCDC65 CCDC65 Ciliary dyskinesia, primary, 27 Autosomal recessive 611088 615504 12 NA -WNT10B|SHFM6 WNT10B|WNT10B WNT10B Split-hand/foot malformation 6 Autosomal recessive 601906 225300 12 NA +WNT10B|SHFM6|STHAG8 WNT10B|WNT10B|NA WNT10B Tooth agenesis, selective, 8 Autosomal dominant 601906 617073 12 NA +WNT10B|SHFM6|STHAG8 WNT10B|WNT10B|NA WNT10B Split-hand/foot malformation 6 Autosomal recessive 601906 225300 12 NA WNT1|INT1|OI15|BMND16 WNT1|INTS1,WNT1|NA|NA WNT1,INTS1 Osteoporosis, early-onset, susceptibility to, autosomal dominant None 164820 615221 12 NA WNT1|INT1|OI15|BMND16 WNT1|INTS1,WNT1|NA|NA WNT1,INTS1 Osteogenesis imperfecta, type XV Autosomal recessive 164820 615220 12 NA KMT2D|MLL2|ALR|KABUK1 KMT2D|KMT2B,KMT2D|AKR1A1,GFER,KMT2D|NA KMT2B,GFER,AKR1A1,KMT2D Kabuki syndrome 1 Autosomal dominant 602113 147920 12 NA @@ -3868,8 +3906,9 @@ GPD1|HTGTI GPD1|NA GPD1 Hypertriglyceridemia, transient infantile Autosomal rece COX14|C12orf62 COX14|COX14 COX14 ?Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 614478 220110 12 mutation identified in 1 Cox4 deficient family DIP2B|KIAA1463 DIP2B|DIP2B DIP2B Mental retardation, FRA12A type Autosomal dominant 611379 136630 12 NA SLC11A2|NRAMP2|DCT1|DMT1|AHMIO1 SLC11A2|SLC11A2|SLC11A2|DMRT1,SLC11A2|NA DMRT1,SLC11A2 Anemia, hypochromic microcytic, with iron overload 1 Autosomal recessive 600523 206100 12 NA -SCN8A|CIAT|EIEE13 SCN8A|NA|NA SCN8A Epileptic encephalopathy, early infantile, 13 Autosomal dominant 600702 614558 12 mutation identified in 1 CIAT family -SCN8A|CIAT|EIEE13 SCN8A|NA|NA SCN8A ?Cognitive impairment with or without cerebellar ataxia Autosomal dominant 600702 614306 12 mutation identified in 1 CIAT family +SCN8A|CIAT|EIEE13|BFIS5 SCN8A|NA|NA|NA SCN8A Seizures, benign familial infantile, 5 Autosomal dominant 600702 617080 12 mutation identified in 1 CIAT family +SCN8A|CIAT|EIEE13|BFIS5 SCN8A|NA|NA|NA SCN8A Epileptic encephalopathy, early infantile, 13 Autosomal dominant 600702 614558 12 mutation identified in 1 CIAT family +SCN8A|CIAT|EIEE13|BFIS5 SCN8A|NA|NA|NA SCN8A ?Cognitive impairment with or without cerebellar ataxia Autosomal dominant 600702 614306 12 mutation identified in 1 CIAT family ACVRL1|ACVRLK1|ALK1|HHT2 ACVRL1|ACVRL1|ACVRL1,SLPI|ACVRL1 SLPI,ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2 Autosomal dominant 601284 600376 12 NA ACVR1B|ACVRLK4|ALK4 ACVR1B|ACVR1B,TGFBR1|ACVR1B TGFBR1,ACVR1B Pancreatic cancer, somatic None 601300 NA 12 NA KRT86|KRTHB6|HB6 KRT86|KRT86|ENTPD3 ENTPD3,KRT86 Monilethrix Autosomal dominant 601928 158000 12 NA @@ -3880,36 +3919,36 @@ KRT75|K6HF|PFB KRT75|KRT75|NA KRT75 Pseudofolliculitis barbae, susceptibility to KRT6B|PC4 KRT6B|IFRD1,PCSK4,SUB1 KRT6B,IFRD1,PCSK4,SUB1 Pachyonychia congenita 4 None 148042 615728 12 NA KRT6C|PPKNEFD KRT6A,KRT6C|NA KRT6C,KRT6A Palmoplantar keratoderma, nonepidermolytic, focal or diffuse Autosomal dominant 612315 615735 12 NA KRT6A|PC3 KRT6A|BTG2,CBX8,PCSK1 PCSK1,CBX8,BTG2,KRT6A Pachyonychia congenita 3 None 148041 615726 12 NA +KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex, Dowling-Meara type Autosomal dominant 148040 131760 12 NA +KRT5|DDD1 KRT5|NA KRT5 Epidermylysis bullosa simplex-MCR None 148040 609352 12 NA +KRT5|DDD1 KRT5|NA KRT5 Dowling-Degos disease 1 Autosomal dominant 148040 179850 12 NA KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex-MP Autosomal dominant 148040 131960 12 NA KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex, Weber-Cockayne type Autosomal dominant 148040 131800 12 NA KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex, recessive 1 Autosomal recessive 148040 601001 12 NA KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex, Koebner type Autosomal dominant 148040 131900 12 NA -KRT5|DDD1 KRT5|NA KRT5 Epidermolysis bullosa simplex, Dowling-Meara type Autosomal dominant 148040 131760 12 NA -KRT5|DDD1 KRT5|NA KRT5 Epidermylysis bullosa simplex-MCR None 148040 609352 12 NA -KRT5|DDD1 KRT5|NA KRT5 Dowling-Degos disease 1 Autosomal dominant 148040 179850 12 NA KRT71|K6IRS1|KRT6IRS1|HYPT13 KRT71|KRT71|KRT71|NA KRT71 ?Hypotrichosis 13 Autosomal dominant 608245 615896 12 mutation identified in 1 HYPT13 family KRT74|K6IRS4|KRT6IRS4|HTSS2|HYPT3|ADWH KRT74|KRT74|KRT74|NA|NA|NA KRT74 ?Ectodermal dysplasia 7, hair/nail type Autosomal recessive 608248 614929 12 mutation identified in 1 HYPT3 family and ECTD7 family KRT74|K6IRS4|KRT6IRS4|HTSS2|HYPT3|ADWH KRT74|KRT74|KRT74|NA|NA|NA KRT74 Woolly hair, autosomal dominant Autosomal dominant 608248 194300 12 mutation identified in 1 HYPT3 family and ECTD7 family KRT74|K6IRS4|KRT6IRS4|HTSS2|HYPT3|ADWH KRT74|KRT74|KRT74|NA|NA|NA KRT74 ?Hypotrichosis 3 None 608248 613981 12 mutation identified in 1 HYPT3 family and ECTD7 family KRT2|KRT2A|KRT2E KRT2|KRT2|NA KRT2 Ichthyosis bullosa of Siemens Autosomal dominant 600194 146800 12 NA +KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Keratosis palmoplantaris striata III None 139350 607654 12 close to Hox-3 in mouse; class II keratin +KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Ichthyosis, cyclic, with epidermolytic hyperkeratosis Autosomal dominant 139350 607602 12 close to Hox-3 in mouse; class II keratin KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Ichthyosis histrix, Curth-Macklin type Autosomal dominant 139350 146590 12 close to Hox-3 in mouse; class II keratin KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Epidermolytic hyperkeratosis Autosomal dominant 139350 113800 12 close to Hox-3 in mouse; class II keratin KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Palmoplantar keratoderma, nonepidermolytic Autosomal dominant 139350 600962 12 close to Hox-3 in mouse; class II keratin KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Palmoplantar keratoderma, epidermolytic Autosomal dominant 139350 144200 12 close to Hox-3 in mouse; class II keratin -KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Keratosis palmoplantaris striata III None 139350 607654 12 close to Hox-3 in mouse; class II keratin -KRT1|EPPK|NEPPK|EHK KRT1|KRT9|KRT16|NA KRT16,KRT1,KRT9 Ichthyosis, cyclic, with epidermolytic hyperkeratosis Autosomal dominant 139350 607602 12 close to Hox-3 in mouse; class II keratin KRT3 KRT3 KRT3 Meesmann corneal dystrophy Autosomal dominant 148043 122100 12 NA KRT4|CYK4|WSN1 KRT4|KRT4|NA KRT4 White sponge nevus 1 Autosomal dominant 123940 193900 12 class II keratin -KRT8 KRT8 KRT8 Cirrhosis, cryptogenic Autosomal recessive 148060 215600 12 NA KRT8 KRT8 KRT8 Cirrhosis, noncryptogenic, susceptibility to Autosomal recessive 148060 215600 12 NA -KRT18 KRT18 KRT18 Cirrhosis, noncryptogenic, susceptibility to Autosomal recessive 148070 215600 12 contiguous to KRT8, type II heteromer partner +KRT8 KRT8 KRT8 Cirrhosis, cryptogenic Autosomal recessive 148060 215600 12 NA KRT18 KRT18 KRT18 Cirrhosis, cryptogenic Autosomal recessive 148070 215600 12 contiguous to KRT8, type II heteromer partner +KRT18 KRT18 KRT18 Cirrhosis, noncryptogenic, susceptibility to Autosomal recessive 148070 215600 12 contiguous to KRT8, type II heteromer partner AAAS|AAA AAAS|NA AAAS Achalasia-addisonianism-alacrimia syndrome Autosomal recessive 605378 231550 12 NA SP7|OSX|OI12 SP7|SP7|NA SP7 ?Osteogenesis imperfecta, type XII Autosomal recessive 606633 613849 12 mutation identified in 1 OI12 patient AMHR2|AMHR AMHR2|NA AMHR2 Persistent Mullerian duct syndrome, type II Autosomal recessive 600956 261550 12 NA HOXC13|HOX3G|ECTD9 HOXC13|HOXC13|NA HOXC13 Ectodermal dysplasia 9, hair/nail type Autosomal recessive 142976 614931 12 fused with NUP98 in AML -HNRNPA1|IBMPFD3|ALS20 HNRNPA1|NA|HNRNPA1 HNRNPA1 Amyotrophic lateral sclerosis 20 Autosomal dominant 164017 615426 12 mutation identified in 1 family with IBMPFD3 HNRNPA1|IBMPFD3|ALS20 HNRNPA1|NA|HNRNPA1 HNRNPA1 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 Autosomal dominant 164017 615424 12 mutation identified in 1 family with IBMPFD3 +HNRNPA1|IBMPFD3|ALS20 HNRNPA1|NA|HNRNPA1 HNRNPA1 Amyotrophic lateral sclerosis 20 Autosomal dominant 164017 615426 12 mutation identified in 1 family with IBMPFD3 ITGA7 ITGA7 ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency Autosomal recessive 600536 613204 12 NA RDH5 RDH5 RDH5 Fundus albipunctatus Autosomal dominant; Autosomal recessive 601617 136880 12 NA MMP19|MMP18|CODA MMP19|MMP19|NA MMP19 Cavitary optic disc anomalies Autosomal dominant 601807 611543 12 triplication in upstream regulatory region @@ -3942,11 +3981,11 @@ MSRB3|DFNB74 MSRB3|MSRB3 MSRB3 Deafness, autosomal recessive 74 Autosomal recess HMGA2|HMGIC|BABL HMGA2|HMGA2|HMGA2 HMGA2 Leiomyoma, uterine, somatic None 600698 150699 12 fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas IRAK3|IRAKM|ASRT5 IRAK3|NA|NA IRAK3 Asthma susceptibility 5 None 604459 611064 12 NA GRIP1 GRIP1,LGALS12,NCOA2 GRIP1,LGALS12,NCOA2 Fraser syndrome Autosomal recessive 604597 219000 12 NA +IFNG|IFG|IFI IFNG|NA|NA IFNG Tuberculosis, protection against None 147570 607948 12 3 introns; none in IFF, IFL IFNG|IFG|IFI IFNG|NA|NA IFNG TSC2 angiomyolipomas, renal, modifier of Autosomal dominant 147570 613254 12 3 introns; none in IFF, IFL IFNG|IFG|IFI IFNG|NA|NA IFNG Hepatitis C virus, response to therapy of None 147570 609532 12 3 introns; none in IFF, IFL IFNG|IFG|IFI IFNG|NA|NA IFNG Aplastic anemia None 147570 609135 12 3 introns; none in IFF, IFL IFNG|IFG|IFI IFNG|NA|NA IFNG AIDS, rapid progression to None 147570 609423 12 3 introns; none in IFF, IFL -IFNG|IFG|IFI IFNG|NA|NA IFNG Tuberculosis, protection against None 147570 607948 12 3 introns; none in IFF, IFL NUP107|NUP84|NPHS11 NUP107|NUP107|NA NUP107 Nephrotic syndrome, type 11 Autosomal recessive 607617 616730 12 NA MDM2|ACTFS MDM2|NA MDM2 Accelerated tumor formation, susceptibility to None 164785 614401 12 NA LYZ LYZ LYZ Amyloidosis, renal Autosomal dominant 153450 105200 12 NA @@ -3958,17 +3997,18 @@ OTOGL|C12orf64|DFNB84B OTOGL|OTOGL|NA OTOGL Deafness, autosomal recessive 84B Au PTPRQ|PTPGMC1|DFNB84A PTPRQ,PTPRR|NA|NA PTPRR,PTPRQ Deafness, autosomal recessive 84A Autosomal recessive 603317 613391 12 NA MYF6|CNM3 MYF6|NA MYF6 Myopathy, centronuclear, 3 Autosomal dominant 159991 614408 12 6.5kb upstream from MYF5; both prob. 12q15, by H ALX1|CART1|FND3 ALX1|ALX1,TRAF4|NA ALX1,TRAF4 ?Frontonasal dysplasia 3 None 601527 613456 12 mutation identified in 1 FND3 patient +CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 Senior-Loken syndrome 6 Autosomal recessive 610142 610189 12 mutation identified in 1 BBS14 family CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 Meckel syndrome 4 Autosomal recessive 610142 611134 12 mutation identified in 1 BBS14 family CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 Leber congenital amaurosis 10 None 610142 611755 12 mutation identified in 1 BBS14 family CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 Joubert syndrome 5 Autosomal recessive 610142 610188 12 mutation identified in 1 BBS14 family CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 ?Bardet-Biedl syndrome 14 Autosomal recessive 610142 615991 12 mutation identified in 1 BBS14 family -CEP290|KIAA0373|3H11AG|JBTS5|SLSN6|LCA10|BBS14 CEP290|CEP290|NA|CEP290|CEP290|CEP290|CEP290 CEP290 Senior-Loken syndrome 6 Autosomal recessive 610142 610189 12 mutation identified in 1 BBS14 family +KITLG|MGF|SF|SCF|SHEP7|FPHH|DCUA|DFNA69 KITLG|KITLG,STAT5A|HGF,KITLG|KITLG|NA|NA|NA|NA HGF,KITLG,STAT5A Hyperpigmentation with or without hypopigmentation Autosomal dominant 184745 145250 12 associated with dbSNP rs12821256 KITLG|MGF|SF|SCF|SHEP7|FPHH|DCUA|DFNA69 KITLG|KITLG,STAT5A|HGF,KITLG|KITLG|NA|NA|NA|NA HGF,KITLG,STAT5A Deafness, autosomal dominant 69, unilateral or asymmetric Autosomal dominant 184745 616697 12 associated with dbSNP rs12821256 KITLG|MGF|SF|SCF|SHEP7|FPHH|DCUA|DFNA69 KITLG|KITLG,STAT5A|HGF,KITLG|KITLG|NA|NA|NA|NA HGF,KITLG,STAT5A Skin/hair/eye pigmentation 7, blond/brown hair None 184745 611664 12 associated with dbSNP rs12821256 -KITLG|MGF|SF|SCF|SHEP7|FPHH|DCUA|DFNA69 KITLG|KITLG,STAT5A|HGF,KITLG|KITLG|NA|NA|NA|NA HGF,KITLG,STAT5A Hyperpigmentation with or without hypopigmentation Autosomal dominant 184745 145250 12 associated with dbSNP rs12821256 +CNA1 CNA1,PPP3CA CNA1,PPP3CA Cornea plana 1, autosomal dominant Autosomal dominant 121400 121400 12 between D12S82 and D12S351 DUSP6|MKP3|PYST1|HH19 DUSP6|NA|DUSP6|NA DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia Autosomal dominant 602748 615269 12 NA POC1B|PIX1|CORD20 POC1B|NA|NA POC1B Cone-rod dystrophy 20 Autosomal recessive 614784 615973 12 NA -KERA|CNA2 KERA|KERA,PPP3CB PPP3CB,KERA Cornea plana congenita, recessive Autosomal recessive 603288 217300 12 NA +KERA|CNA2 KERA|KERA,PPP3CB PPP3CB,KERA Cornea plana 2, autosomal recessive Autosomal recessive 603288 217300 12 NA DCN|CSCD DCN|NA DCN Corneal dystrophy, congenital stromal Autosomal dominant 125255 610048 12 conflicting assignments to 12q23 and 12q13.2 CRADD|RAIDD|MRT34 CRADD|CRADD|NA CRADD Mental retardation, autosomal recessive 34 None 603454 614499 12 NA CEP83|CCDC41|NPHP18 CEP83|CEP83|CEP83 CEP83 Nephronophthisis 18 Autosomal recessive 615847 615862 12 NA @@ -3978,15 +4018,16 @@ HAL|HSTD HAL|NA HAL Histidinemia Autosomal dominant 609457 235800 12 NA TMPO|LAP2|CMD1T TMPO|ERBB2IP,TMPO|NA TMPO,ERBB2IP ?Cardiomyopathy, dilated, 1T None 188380 613740 12 mutation identified in 1 family with CMD1T SLC25A3|PHC SLC25A3|SLC25A3 SLC25A3 Mitochondrial phosphate carrier deficiency None 600370 610773 12 NA SLC17A8|VGLUT3|DFNA25 SLC17A8|SLC17A8|SLC17A8 SLC17A8 Deafness, autosomal dominant 25 Autosomal dominant 607557 605583 12 NA -MYBPC1|LCCS4 MYBPC1|NA MYBPC1 Lethal congenital contracture syndrome 4 Autosomal recessive 160794 614915 12 NA +NR1H4|FXR|RIP14|PFIC5 NR1H4|NR1H4|NR1H4|NA NR1H4 Cholestasis, progressive familial intrahepatic, 5 Autosomal recessive 603826 617049 12 NA MYBPC1|LCCS4 MYBPC1|NA MYBPC1 Arthrogryposis, distal, type 1B None 160794 614335 12 NA -SYCP3|SCP3|COR1|SPGF4|RPRGL4 SYCP3|CTDSPL|NA|NA|NA CTDSPL,SYCP3 Spermatogenic failure 4 Autosomal dominant 604759 270960 12 NA +MYBPC1|LCCS4 MYBPC1|NA MYBPC1 Lethal congenital contracture syndrome 4 Autosomal recessive 160794 614915 12 NA SYCP3|SCP3|COR1|SPGF4|RPRGL4 SYCP3|CTDSPL|NA|NA|NA CTDSPL,SYCP3 Pregnancy loss, recurrent, 4 Autosomal dominant 604759 270960 12 NA -GNPTAB|GNPTA GNPTAB|GNPTAB GNPTAB Mucolipidosis II alpha/beta Autosomal recessive 607840 252500 12 conflicting assignment to 4q +SYCP3|SCP3|COR1|SPGF4|RPRGL4 SYCP3|CTDSPL|NA|NA|NA CTDSPL,SYCP3 Spermatogenic failure 4 Autosomal dominant 604759 270960 12 NA GNPTAB|GNPTA GNPTAB|GNPTAB GNPTAB Mucolipidosis III alpha/beta Autosomal recessive 607840 252600 12 conflicting assignment to 4q +GNPTAB|GNPTA GNPTAB|GNPTAB GNPTAB Mucolipidosis II alpha/beta Autosomal recessive 607840 252500 12 conflicting assignment to 4q IGF1 IGF1 IGF1 Growth retardation with deafness and mental retardation due to IGF1 deficiency Autosomal recessive 147440 608747 12 NA -PAH|PKU1 PAH|NA PAH Phenylketonuria Autosomal recessive 612349 261600 12 close to IGF1 PAH|PKU1 PAH|NA PAH Hyperphenylalaninemia, non-PKU mild Autosomal recessive 612349 261600 12 close to IGF1 +PAH|PKU1 PAH|NA PAH Phenylketonuria Autosomal recessive 612349 261600 12 close to IGF1 ASCL1|ASH1 ASCL1|ASCL1,ASH1L ASH1L,ASCL1 Haddad syndrome Autosomal dominant 100790 209880 12 distal to PAH and proximal to TRA1 ASCL1|ASH1 ASCL1|ASCL1,ASH1L ASH1L,ASCL1 Central hypoventilation syndrome, congenital Autosomal dominant 100790 209880 12 distal to PAH and proximal to TRA1 KIAA1033|SWIP|MRT43 KIAA1033|KIAA1033|NA KIAA1033 ?Mental retardation, autosomal recessive 43 Autosomal recessive 615748 615817 12 mutation identified in 1 MRT43 family @@ -3996,9 +4037,11 @@ DAO|DAMOX AOC1,DAO|DAO AOC1,DAO Schizophrenia Autosomal dominant 124050 181500 1 UNG|DGU|HIGM5 UNG|UNG|NA UNG Immunodeficiency with hyper IgM, type 5 Autosomal recessive 191525 608106 12 NA UBE3B|BPIDS|KOS UBE3B|NA|NA UBE3B Kaufman oculocerebrofacial syndrome Autosomal recessive 608047 244450 12 NA MMAB MMAB MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type Autosomal recessive 607568 251110 12 NA +MVK|MVLK|POROK3 MVK|NA|NA MVK Hyper-IgD syndrome Autosomal recessive 251170 260920 12 NA MVK|MVLK|POROK3 MVK|NA|NA MVK Porokeratosis 3, multiple types Autosomal dominant 251170 175900 12 NA MVK|MVLK|POROK3 MVK|NA|NA MVK Mevalonic aciduria Autosomal recessive 251170 610377 12 NA -MVK|MVLK|POROK3 MVK|NA|NA MVK Hyper-IgD syndrome Autosomal recessive 251170 260920 12 NA +TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Metatropic dysplasia Autosomal dominant 605427 156530 12 NA +TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Spondylometaphyseal dysplasia, Kozlowski type Autosomal dominant 605427 184252 12 NA TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Hereditary motor and sensory neuropathy, type IIc Autosomal dominant 605427 606071 12 NA TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive Autosomal dominant 605427 600175 12 NA TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Digital arthropathy-brachydactyly, familial Autosomal dominant 605427 606835 12 NA @@ -4007,45 +4050,44 @@ TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|N TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Scapuloperoneal spinal muscular atrophy Autosomal dominant 605427 181405 12 NA TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Parastremmatic dwarfism Autosomal dominant 605427 168400 12 NA TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Sodium serum level QTL 1 None 605427 613508 12 NA -TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Metatropic dysplasia Autosomal dominant 605427 156530 12 NA -TRPV4|VROAC|HMSN2C|CMT2C|SPSMA|SSQTL1|SMAL|BCYM3 TRPV4|TRPV4|NA|TRPV4|NA|NA|NA|NA TRPV4 Spondylometaphyseal dysplasia, Kozlowski type Autosomal dominant 605427 184252 12 NA ATP2A2|ATP2B|DAR ATP2A2|ATP2A2|ATP2A2 ATP2A2 Darier disease Autosomal dominant 108740 124200 12 NA ATP2A2|ATP2B|DAR ATP2A2|ATP2A2|ATP2A2 ATP2A2 Acrokeratosis verruciformis Autosomal dominant 108740 101900 12 NA TECT1|JBTS13 TCTN1|TCTN1 TCTN1 Joubert syndrome 13 Autosomal recessive 609863 614173 12 NA MYL2|CMH10 MYL2|MYL2 MYL2 Cardiomyopathy, hypertrophic, 10 None 160781 608758 12 NA -SH2B3|LNK SH2B3|SH2B3 SH2B3 Erythrocytosis, somatic None 605093 133100 12 NA SH2B3|LNK SH2B3|SH2B3 SH2B3 Thrombocythemia, somatic None 605093 187950 12 NA SH2B3|LNK SH2B3|SH2B3 SH2B3 Myelofibrosis, somatic None 605093 254450 12 NA +SH2B3|LNK SH2B3|SH2B3 SH2B3 Erythrocytosis, somatic None 605093 133100 12 NA +ATXN2|ATX2|SCA2|ASL13 ATXN2|ATXN2|ATXN2|NA ATXN2 Parkinson disease, late-onset, susceptibility to Isolated cases; Multifactorial 601517 168600 12 NA ATXN2|ATX2|SCA2|ASL13 ATXN2|ATXN2|ATXN2|NA ATXN2 Amyotrophic lateral sclerosis, susceptibility to, 13 Autosomal dominant 601517 183090 12 NA ATXN2|ATX2|SCA2|ASL13 ATXN2|ATXN2|ATXN2|NA ATXN2 Spinocerebellar ataxia 2 Autosomal dominant 601517 183090 12 NA -ATXN2|ATX2|SCA2|ASL13 ATXN2|ATXN2|ATXN2|NA ATXN2 Parkinson disease, late-onset, susceptibility to Isolated cases; Multifactorial 601517 168600 12 NA -ALDH2 ALDH2 ALDH2 Sublingual nitroglycerin, susceptibility to poor response to None 100650 NA 12 NA -ALDH2 ALDH2 ALDH2 Hangover, susceptibility to None 100650 610251 12 NA ALDH2 ALDH2 ALDH2 Esophageal cancer, alcohol-related, susceptibility to None 100650 NA 12 NA ALDH2 ALDH2 ALDH2 Alcohol sensitivity, acute None 100650 610251 12 NA +ALDH2 ALDH2 ALDH2 Sublingual nitroglycerin, susceptibility to poor response to None 100650 NA 12 NA +ALDH2 ALDH2 ALDH2 Hangover, susceptibility to None 100650 610251 12 NA +PTPN11|PTP2C|SHP2|NS1|JMML|METCDS PTPN11|PTPN11|PTPN11|PTPN11|NA|NA PTPN11 Noonan syndrome 1 Autosomal dominant 176876 163950 12 NA PTPN11|PTP2C|SHP2|NS1|JMML|METCDS PTPN11|PTPN11|PTPN11|PTPN11|NA|NA PTPN11 Metachondromatosis Autosomal dominant 176876 156250 12 NA PTPN11|PTP2C|SHP2|NS1|JMML|METCDS PTPN11|PTPN11|PTPN11|PTPN11|NA|NA PTPN11 Leukemia, juvenile myelomonocytic, somatic None 176876 607785 12 NA PTPN11|PTP2C|SHP2|NS1|JMML|METCDS PTPN11|PTPN11|PTPN11|PTPN11|NA|NA PTPN11 LEOPARD syndrome 1 Autosomal dominant 176876 151100 12 NA -PTPN11|PTP2C|SHP2|NS1|JMML|METCDS PTPN11|PTPN11|PTPN11|PTPN11|NA|NA PTPN11 Noonan syndrome 1 Autosomal dominant 176876 163950 12 NA -OAS1|OIAS OAS1|OAS1 OAS1 Viral infection, susceptibility to None 164350 NA 12 NA OAS1|OIAS OAS1|OAS1 OAS1 Diabetes mellitus, type 1, susceptibility to Autosomal recessive 164350 222100 12 NA +OAS1|OIAS OAS1|OAS1 OAS1 Viral infection, susceptibility to None 164350 NA 12 NA NIDDM2 NIDDM2 NIDDM2 Diabetes mellitus, noninsulin-dependent, 2 None 601407 601407 12 no mutations found in HNF1A TBX5 TBX5 TBX5 Holt-Oram syndrome Autosomal dominant 601620 142900 12 NA TBX3 TBX3 TBX3 Ulnar-mammary syndrome Autosomal dominant 601621 181450 12 NA -MED13L|THRAP2|PROSIT240|TRAP240L|KIAA1025|MRFACD MED13L|MED13L|NA|MED13L|MED13L|NA MED13L Transposition of the great arteries, dextro-looped 1 Autosomal dominant 608771 608808 12 NA MED13L|THRAP2|PROSIT240|TRAP240L|KIAA1025|MRFACD MED13L|MED13L|NA|MED13L|MED13L|NA MED13L Mental retardation and distinctive facial features with or without cardiac defects Autosomal dominant 608771 616789 12 NA +MED13L|THRAP2|PROSIT240|TRAP240L|KIAA1025|MRFACD MED13L|MED13L|NA|MED13L|MED13L|NA MED13L Transposition of the great arteries, dextro-looped 1 Autosomal dominant 608771 608808 12 NA HSPB8|H11|E2IG1|DHMN2|CMT2L|HMN2A HSPB8|HSPB8|HSPB8|NA|NA|NA HSPB8 Neuropathy, distal hereditary motor, type IIA Autosomal dominant 608014 158590 12 NA HSPB8|H11|E2IG1|DHMN2|CMT2L|HMN2A HSPB8|HSPB8|HSPB8|NA|NA|NA HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L Autosomal dominant 608014 608673 12 NA +CIT|STK21|CRIK|MCPH17 CIT|CIT|CIT|NA CIT Microcephaly 17, primary, autosomal recessive Autosomal recessive 605629 617090 12 NA COX6A1|CMTRID COX6A1|NA COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D Autosomal recessive 602072 616039 12 pseudogenes on chr.7 and chr.6 ACADS|SCAD ACADS|ACADS ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of Autosomal recessive 606885 201470 12 NA +HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 MODY, type III Autosomal dominant 142410 600496 12 NA +HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Hepatic adenoma, somatic None 142410 142330 12 NA HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Diabetes mellitus, insulin-dependent, 20 None 142410 612520 12 NA HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Diabetes mellitus, noninsulin-dependent, 2 Autosomal dominant 142410 125853 12 NA HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Diabetes mellitus, insulin-dependent Autosomal recessive 142410 222100 12 NA HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Renal cell carcinoma None 142410 144700 12 NA -HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 MODY, type III Autosomal dominant 142410 600496 12 NA -HNF1A|TCF1|MODY3|IDDM20 HNF1A|HNF1A|HNF1A|SH2B3 HNF1A,SH2B3 Hepatic adenoma, somatic None 142410 142330 12 NA -ORAI1|TMEM142A|CRACM1|IMD9|TAM2 ORAI1|ORAI1|ORAI1|NA|NA ORAI1 Immunodeficiency 9 Autosomal recessive 610277 612782 12 NA ORAI1|TMEM142A|CRACM1|IMD9|TAM2 ORAI1|ORAI1|ORAI1|NA|NA ORAI1 Myopathy, tubular aggregate, 2 Autosomal dominant 610277 615883 12 NA +ORAI1|TMEM142A|CRACM1|IMD9|TAM2 ORAI1|ORAI1|ORAI1|NA|NA ORAI1 Immunodeficiency 9 Autosomal recessive 610277 612782 12 NA HPD HPD HPD Tyrosinemia, type III Autosomal recessive 609695 276710 12 NA HPD HPD HPD Hawkinsinuria Autosomal dominant 609695 140350 12 NA BCL7A|BCL7 BCL7A|BCL7A BCL7A B-cell non-Hodgkin lymphoma, high-grade None 601406 NA 12 NA @@ -4055,8 +4097,8 @@ C12orf65|COXPD7|SPG55 C12orf65|NA|C12orf65 C12orf65 Combined oxidative phosphory EIF2B1|EIF2BA EIF2B1|EIF2B1 EIF2B1 Leukoencephalopathy with vanishing white matter Autosomal recessive 606686 603896 12 NA TCTN2|TECT2|MKS8|JBTS24 TCTN2|TCTN2|TCTN2|NA TCTN2 Joubert syndrome 24 Autosomal recessive 613846 616654 12 mutation identified in 1 MKS8 family TCTN2|TECT2|MKS8|JBTS24 TCTN2|TCTN2|TCTN2|NA TCTN2 ?Meckel syndrome 8 Autosomal recessive 613846 613885 12 mutation identified in 1 MKS8 family -ATP6V0A2|WSS|ARCL2A ATP6V0A2|NA|NA ATP6V0A2 Wrinkly skin syndrome Autosomal recessive 611716 278250 12 NA ATP6V0A2|WSS|ARCL2A ATP6V0A2|NA|NA ATP6V0A2 Cutis laxa, autosomal recessive, type IIA Autosomal recessive 611716 219200 12 NA +ATP6V0A2|WSS|ARCL2A ATP6V0A2|NA|NA ATP6V0A2 Wrinkly skin syndrome Autosomal recessive 611716 278250 12 NA SCARB1|CD36L1|CLA1|HDLQTL6 SCARB1|SCARB1|SCAR2,SCARB1|NA SCARB1,SCAR2 High density lipoprotein cholesterol level QTL6 None 601040 610762 12 NA PUS1|MLASA1 PUS1|NA PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1 Autosomal recessive 608109 600462 12 NA P2RX2|P2X2|DFNA41 P2RX2|P2RX2|P2RX2 P2RX2 Deafness, autosomal dominant 41 Autosomal dominant 600844 608224 12 NA @@ -4065,45 +4107,45 @@ POLE1|CRCS12|FILS POLE|NA|NA POLE FILS syndrome Autosomal recessive 174762 61513 ANKLE2|LEM4|KIAA0692|MCPH16 ANKLE2|NA|ANKLE2|NA ANKLE2 ?Microcephaly 16, primary, autosomal recessive Autosomal recessive 616062 616681 12 mutation identified in 1 MCPH16 family CLQTL1|CLF NA|CRLF1,CRNKL1 CRNKL1,CRLF1 Cholesterol level QTL 1 None 604595 604595 13 NA GJA3|CX46|CZP3|CAE3|CTRCT14 GJA3|GJA3|GJA3|NA|NA GJA3 Cataract 14, multiple types Autosomal dominant 121015 601885 13 NA -GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Deafness, autosomal recessive 1A Digenic dominant; Autosomal recessive 121011 220290 13 NA +GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Keratitis-ichthyosis-deafness syndrome Autosomal dominant 121011 148210 13 NA +GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Hystrix-like ichthyosis with deafness Autosomal dominant 121011 602540 13 NA +GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Deafness, autosomal recessive 1A Autosomal recessive; Digenic dominant 121011 220290 13 NA GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Deafness, autosomal dominant 3A Autosomal dominant 121011 601544 13 NA GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Vohwinkel syndrome Autosomal dominant 121011 124500 13 NA GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Bart-Pumphrey syndrome Autosomal dominant 121011 149200 13 NA GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Keratoderma, palmoplantar, with deafness Autosomal dominant 121011 148350 13 NA -GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Keratitis-ichthyosis-deafness syndrome Autosomal dominant 121011 148210 13 NA -GJB2|CX26|DFNB1A|PPK|DFNA3A|KID|HID GJB2|GJB2|NA|NA|NA|NA|NA GJB2 Hystrix-like ichthyosis with deafness Autosomal dominant 121011 602540 13 NA +GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Deafness, autosomal dominant 3B Autosomal dominant 604418 612643 13 NA GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Ectodermal dysplasia 2, Clouston type Autosomal dominant 604418 129500 13 NA -GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Deafness, digenic GJB2/GJB6 Digenic dominant; Autosomal recessive 604418 220290 13 NA +GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Deafness, digenic GJB2/GJB6 Autosomal recessive; Digenic dominant 604418 220290 13 NA GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Deafness, autosomal recessive 1B Autosomal recessive 604418 612645 13 NA -GJB6|CX30|DFNA3B|DFNB1B|ECTD2|HED2 GJB6|GJB6|NA|NA|NA|NA GJB6 Deafness, autosomal dominant 3B Autosomal dominant 604418 612643 13 NA -FGF9|SYNS3 FGF9|NA FGF9 ?Multiple synostoses syndrome 3 None 600921 612961 13 mutation identified in 1 SYNS3 family +FGF9|SYNS3 FGF9|NA FGF9 ?Multiple synostoses syndrome 3 Autosomal dominant 600921 612961 13 mutation identified in 1 SYNS3 family SGCG|LGMD2C|DMDA1|SCG3 SGCG|SGCG|SGCG|SCG3,SGCG SGCG,SCG3 Muscular dystrophy, limb-girdle, type 2C Autosomal recessive 608896 253700 13 NA SACS|ARSACS SACS|SACS SACS Spastic ataxia, Charlevoix-Saguenay type Autosomal recessive 604490 270550 13 NA -CENPJ|CPAP|MCPH6|SCKL4 CENPJ|CENPJ|CENPJ|CENPJ,PCNT CENPJ,PCNT Microcephaly 6, primary, autosomal recessive Autosomal recessive 609279 608393 13 mutation identified in 1 SCKL4 family CENPJ|CPAP|MCPH6|SCKL4 CENPJ|CENPJ|CENPJ|CENPJ,PCNT CENPJ,PCNT ?Seckel syndrome 4 Autosomal recessive 609279 613676 13 mutation identified in 1 SCKL4 family +CENPJ|CPAP|MCPH6|SCKL4 CENPJ|CENPJ|CENPJ|CENPJ,PCNT CENPJ,PCNT Microcephaly 6, primary, autosomal recessive Autosomal recessive 609279 608393 13 mutation identified in 1 SCKL4 family ATP8A2|ATPIB|CAMRQ4 ATP8A2|ATP8A2|NA ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Autosomal recessive 605870 615268 13 NA RNF6 RNF6 RNF6 Esophageal carcinoma, somatic None 604242 133239 13 NA MBS|MBS1 MBS1,PPP1R12A|MBS1 MBS1,PPP1R12A ?Moebius syndrome Autosomal dominant; Isolated cases 157900 157900 13 NA RPL21|HYPT12 RPL21|NA RPL21 Hypotrichosis 12 Autosomal dominant 603636 615885 13 NA POLR1D|RPA16|RPAC2|TCS2 POLR1D|POLR1D|POLR1D|NA POLR1D Treacher Collins syndrome 2 Autosomal dominant 613715 613717 13 NA -IPF1|MODY4|PAGEN1 PDX1|PDX1|NA PDX1 Pancreatic agenesis 1 Autosomal recessive 600733 260370 13 NA -IPF1|MODY4|PAGEN1 PDX1|PDX1|NA PDX1 MODY, type IV None 600733 606392 13 NA -IPF1|MODY4|PAGEN1 PDX1|PDX1|NA PDX1 Diabetes mellitus, type II, susceptibility to Autosomal dominant 600733 125853 13 NA -FLT3 FLT3 FLT3 Leukemia, acute myeloid, somatic None 136351 601626 13 NA +PDX1|IPF1|MODY4|PAGEN1 PDHX,PDX1|PDX1|PDX1|NA PDHX,PDX1 Diabetes mellitus, type II, susceptibility to Autosomal dominant 600733 125853 13 NA +PDX1|IPF1|MODY4|PAGEN1 PDHX,PDX1|PDX1|PDX1|NA PDHX,PDX1 Pancreatic agenesis 1 Autosomal recessive 600733 260370 13 NA +PDX1|IPF1|MODY4|PAGEN1 PDHX,PDX1|PDX1|PDX1|NA PDHX,PDX1 MODY, type IV None 600733 606392 13 NA FLT3 FLT3 FLT3 Leukemia, acute myeloid, reduced survival in, somatic None 136351 601626 13 NA FLT3 FLT3 FLT3 Leukemia, acute lymphoblastic, somatic None 136351 613065 13 NA +FLT3 FLT3 FLT3 Leukemia, acute myeloid, somatic None 136351 601626 13 NA POMP|UMP1 NT5C3A,POMP|POMP POMP,NT5C3A Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Autosomal recessive 613386 601952 13 NA ALOX5AP|FLAP ALOX5AP|ALOX5AP ALOX5AP Stroke, susceptibility to Multifactorial 603700 601367 13 NA B3GLCT|B3GALTL|B3GTL NA|B3GALTL|B3GALTL B3GALTL Peters-plus syndrome Autosomal recessive 610308 261540 13 NA ENUR1 ENUR1 ENUR1 Enuresis, nocturnal, 1 Autosomal dominant 600631 600631 13 NA +BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Breast cancer, male, susceptibility to Autosomal dominant 600185 114480 13 NA +BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Prostate cancer Autosomal dominant 600185 176807 13 NA +BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Wilms tumor Somatic mutation; Autosomal dominant 600185 194070 13 NA +BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Pancreatic cancer 2 None 600185 613347 13 NA BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Fanconi anemia, complementation group D1 Autosomal recessive 600185 605724 13 NA BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Medulloblastoma Autosomal dominant 600185 155255 13 NA BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Glioblastoma 3 Autosomal recessive 600185 613029 13 NA BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Breast-ovarian cancer, familial, 2 Autosomal dominant 600185 612555 13 NA -BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Breast cancer, male, susceptibility to Autosomal dominant 600185 114480 13 NA -BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Prostate cancer Autosomal dominant 600185 176807 13 NA -BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Wilms tumor Autosomal dominant; Somatic mutation 600185 194070 13 NA -BRCA2|FANCD1|BROVCA2|GLM3|PNCA2 BRCA2|BRCA2|NA|NA|NA BRCA2 Pancreatic cancer 2 None 600185 613347 13 NA KL|KLOTHO KL|NA KL Coronary artery disease, susceptibility to None 604824 NA 13 NA KL|KLOTHO KL|NA KL Tumoral calcinosis, hyperphosphatemic Autosomal recessive 604824 211900 13 NA SPG20 SPG20 SPG20 Troyer syndrome Autosomal recessive 607111 275900 13 NA @@ -4115,27 +4157,27 @@ BMIQ2 BMIQ2 BMIQ2 Body mass index QTL2 None 606643 606643 13 max lod at D13S257 CLLS2|D13S25|DBM NA|NA|DBH DBH Leukemia, chronic lymphocytic, susceptibility to, 2 Autosomal dominant 109543 109543 13 >530kb telomeric to RB1 RIEG2|RGS2 RIEG2|RGS2 RIEG2,RGS2 Rieger syndrome, type 2 Autosomal dominant 601499 601499 13 NA SPG24 SPG24 SPG24 Spastic paraplegia 24, autosomal recessive Autosomal recessive 607584 607584 13 NA -COG6|COD2|KIAA1134|CDG2L|SHNS COG6|COD2,COG6|COG6|NA|NA COD2,COG6 Congenital disorder of glycosylation, type IIl Autosomal recessive 606977 614576 13 NA COG6|COD2|KIAA1134|CDG2L|SHNS COG6|COD2,COG6|COG6|NA|NA COD2,COG6 Shaheen syndrome Autosomal recessive 606977 615328 13 NA +COG6|COD2|KIAA1134|CDG2L|SHNS COG6|COD2,COG6|COG6|NA|NA COD2,COG6 Congenital disorder of glycosylation, type IIl Autosomal recessive 606977 614576 13 NA FOXO1A|FKHR FOXO1|FOXO1 FOXO1 Rhabdomyosarcoma, alveolar Autosomal recessive 136533 268220 13 chimeric with PAX3 in t(2;13); fuses with PAX3 SLC25A15|ORNT1|HHH SLC25A15|SLC25A15|SLC25A15 SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Autosomal recessive 603861 238970 13 with deficiency of factors VII and X in 3 unrelated cases TNFSF11|OPGL|TRANCE|OPTB2 TNFSF11|TNFSF11|TNFSF11|NA TNFSF11 Osteopetrosis, autosomal recessive 2 Autosomal recessive 602642 259710 13 NA +HTR2A HTR2A HTR2A Obsessive-compulsive disorder, susceptibility to Autosomal dominant 182135 164230 13 NA +HTR2A HTR2A HTR2A Major depressive disorder, response to citalopram therapy in None 182135 608516 13 NA HTR2A HTR2A HTR2A Anorexia nervosa, susceptibility to None 182135 606788 13 NA HTR2A HTR2A HTR2A Alcohol dependence, susceptibility to Multifactorial 182135 103780 13 NA HTR2A HTR2A HTR2A Seasonal affective disorder, susceptibility to None 182135 608516 13 NA HTR2A HTR2A HTR2A Schizophrenia, susceptibility to Autosomal dominant 182135 181500 13 NA -HTR2A HTR2A HTR2A Obsessive-compulsive disorder, susceptibility to Autosomal dominant 182135 164230 13 NA -HTR2A HTR2A HTR2A Major depressive disorder, response to citalopram therapy in None 182135 608516 13 NA SUCLA2|MTDPS5 SUCLA2|NA SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Autosomal recessive 603921 612073 13 NA NUDT15|MTH2|NUDT15D NUDT15|NUDT15|NA NUDT15 Thiopurines, poor metabolism of, 2 Autosomal dominant 615792 616903 13 NA +ITM2B|BRI|ABRI|FBD|RDGCA ITM2B|ITM2B|NA|NA|NA ITM2B Dementia, familial Danish Autosomal dominant 603904 117300 13 mutation identified in 1 RDGCA family ITM2B|BRI|ABRI|FBD|RDGCA ITM2B|ITM2B|NA|NA|NA ITM2B Dementia, familial British Autosomal dominant 603904 176500 13 mutation identified in 1 RDGCA family ITM2B|BRI|ABRI|FBD|RDGCA ITM2B|ITM2B|NA|NA|NA ITM2B ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Autosomal dominant 603904 616079 13 mutation identified in 1 RDGCA family -ITM2B|BRI|ABRI|FBD|RDGCA ITM2B|ITM2B|NA|NA|NA ITM2B Dementia, familial Danish Autosomal dominant 603904 117300 13 mutation identified in 1 RDGCA family +RB1 RB1 RB1 Osteosarcoma, somatic None 614041 259500 13 NA RB1 RB1 RB1 Bladder cancer, somatic None 614041 109800 13 NA RB1 RB1 RB1 Small cell cancer of the lung, somatic None 614041 182280 13 NA -RB1 RB1 RB1 Retinoblastoma, trilateral Autosomal dominant; Somatic mutation 614041 180200 13 NA -RB1 RB1 RB1 Retinoblastoma Autosomal dominant; Somatic mutation 614041 180200 13 NA -RB1 RB1 RB1 Osteosarcoma, somatic None 614041 259500 13 NA +RB1 RB1 RB1 Retinoblastoma, trilateral Somatic mutation; Autosomal dominant 614041 180200 13 NA +RB1 RB1 RB1 Retinoblastoma Somatic mutation; Autosomal dominant 614041 180200 13 NA LPAR6|P2RY5|P2Y5|LAH3|ARWH1|HYPT8 LPAR6|LPAR6|LPAR6|NA|NA|NA LPAR6 Woolly hair, autosomal recessive 1, with or without hypotrichosis Autosomal recessive 609239 278150 13 in intron 17 of RB gene LPAR6|P2RY5|P2Y5|LAH3|ARWH1|HYPT8 LPAR6|LPAR6|LPAR6|NA|NA|NA LPAR6 Hypotrichosis 8 Autosomal recessive 609239 278150 13 in intron 17 of RB gene PHF11|NYREN34 PHF11|NA PHF11 Asthma Autosomal dominant 607796 600807 13 NA @@ -4170,20 +4212,20 @@ PCCA PCCA PCCA Propionicacidemia Autosomal recessive 232000 606054 13 NA NALCN|IHPRF1|CLIFAHDD NALCN|NA|NA NALCN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Autosomal recessive 611549 615419 13 NA NALCN|IHPRF1|CLIFAHDD NALCN|NA|NA NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay Autosomal dominant 611549 616266 13 NA FGF14|FHF4|SCA27 FGF14|FGF14|FGF14 FGF14 Spinocerebellar ataxia 27 Autosomal dominant 601515 609307 13 NA -ERCC5|XPG|COFS3 ERCC5|NA|NA ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome Autosomal recessive 133530 278780 13 NA ERCC5|XPG|COFS3 ERCC5|NA|NA ERCC5 Xeroderma pigmentosum, group G Autosomal recessive 133530 278780 13 NA ERCC5|XPG|COFS3 ERCC5|NA|NA ERCC5 Cerebrooculofacioskeletal syndrome 3 Autosomal recessive 133530 616570 13 NA +ERCC5|XPG|COFS3 ERCC5|NA|NA ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome Autosomal recessive 133530 278780 13 NA SLC10A2|NTCP2|PBAM SLC10A2|NA|NA SLC10A2 Bile acid malabsorption, primary Autosomal recessive 601295 613291 13 NA DAOA|G72 DAOA|DAOA DAOA Schizophrenia Autosomal dominant 607408 181500 13 NA LIG4|LIG4S LIG4|NA LIG4 Multiple myeloma, resistance to Somatic mutation 601837 254500 13 NA LIG4|LIG4S LIG4|NA LIG4 LIG4 syndrome None 601837 606593 13 NA DFNA33 DFNA33 DFNA33 Deafness, autosomal dominant 33 Autosomal dominant 614211 614211 13 maximum lod at D13S285 IRS2 IRS2 IRS2 Diabetes mellitus, noninsulin-dependent Autosomal dominant 600797 125853 13 NA +COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Hemorrhage, intracerebral, susceptibility to None 120130 614519 13 mutation identified in 1 RATOR family +COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Porencephaly 1 Autosomal dominant 120130 175780 13 mutation identified in 1 RATOR family COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Brain small vessel disease with or without ocular anomalies Autosomal dominant 120130 607595 13 mutation identified in 1 RATOR family COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Autosomal dominant 120130 611773 13 mutation identified in 1 RATOR family COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 ?Retinal arteries, tortuosity of Autosomal dominant 120130 180000 13 mutation identified in 1 RATOR family -COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Hemorrhage, intracerebral, susceptibility to None 120130 614519 13 mutation identified in 1 RATOR family -COL4A1|POREN1|HANAC|ICH|BSVD|RATOR COL4A1|NA|NA|NA|NA|NA COL4A1 Porencephaly 1 Autosomal dominant 120130 175780 13 mutation identified in 1 RATOR family COL4A2|POREN2|ICH COL4A2|NA|NA COL4A2 Hemorrhage, intracerebral, susceptibility to None 120090 614519 13 NA COL4A2|POREN2|ICH COL4A2|NA|NA COL4A2 Porencephaly 2 Autosomal dominant 120090 614483 13 NA CARS2|COXPD27 CARS2|NA CARS2 Combined oxidative phosphorylation deficiency 27 Autosomal recessive 612800 616672 13 NA @@ -4196,7 +4238,7 @@ GRK1|RHOK|RK GRK1|GRK1|GRK1 GRK1 Oguchi disease-2 None 180381 613411 13 NA CHAMP1|ZNF828|C13orf8|KIAA1802|MRD40 CHAMP1|CHAMP1|CHAMP1|NA|NA CHAMP1 Mental retardation, autosomal dominant 40 Autosomal dominant 616327 616579 13 NA IBD4 IBD4 IBD4 Inflammatory bowel disease 4 None 606675 606675 14 NA DFNA53 DFNA53 DFNA53 Deafness, autosomal dominant 53 Autosomal dominant 609965 609965 14 max lod at D14S1280 -MRT9|MRT26 MRT9|MRT26 MRT26,MRT9 Mental retardation, autosomal recessive, 9/26 None 611095 611095 14 between rs1998463 and rs243286 +MRT9|MRT26 MRT9|MRT26 MRT26,MRT9 Mental retardation, autosomal recessive, 9/26 Autosomal recessive 611095 611095 14 between rs1998463 and rs243286 PNP|NP PNP,PPY|PNP,ZNF384,CTF2P PNP,PPY,ZNF384,CTF2P Immunodeficiency due to purine nucleoside phosphorylase deficiency Autosomal recessive 164050 613179 14 centromeric to TCRA ANG|RNASE5|ALS9 ANG|ANG|NA ANG Amyotrophic lateral sclerosis 9 None 105850 611895 14 proximal to TCRA/TCRD RPGRIP1|LCA6|CORD13 RPGRIP1|RPGRIP1|RPGRIP1 RPGRIP1 Leber congenital amaurosis 6 None 605446 613826 14 NA @@ -4208,36 +4250,36 @@ SLC7A7|LPI SLC7A7|SLC7A7 SLC7A7 Lysinuric protein intolerance Autosomal recessiv MMP14|WNCHRS MMP14|NA MMP14 ?Winchester syndrome None 600754 277950 14 mutation identified in 1 family CEBPE|CRP1 CEBPE|CEBPE CEBPE Specific granule deficiency Autosomal recessive 600749 245480 14 NA PABPN1|PABP2|PAB2 PABPN1|PABPN1,PABPC1P2|PABPN1 PABPN1,PABPC1P2 Oculopharyngeal muscular dystrophy Autosomal dominant 602279 164300 14 NA +MYH6|ASD3|MYHCA|CMD1EE|CMH14|SSS3 MYH6|NA|NA|NA|NA|NA MYH6 Sick sinus syndrome 3 None 160710 614090 14 NA MYH6|ASD3|MYHCA|CMD1EE|CMH14|SSS3 MYH6|NA|NA|NA|NA|NA MYH6 Cardiomyopathy, hypertrophic, 14 None 160710 613251 14 NA MYH6|ASD3|MYHCA|CMD1EE|CMH14|SSS3 MYH6|NA|NA|NA|NA|NA MYH6 Cardiomyopathy, dilated, 1EE None 160710 613252 14 NA MYH6|ASD3|MYHCA|CMD1EE|CMH14|SSS3 MYH6|NA|NA|NA|NA|NA MYH6 Atrial septal defect 3 None 160710 614089 14 NA -MYH6|ASD3|MYHCA|CMD1EE|CMH14|SSS3 MYH6|NA|NA|NA|NA|NA MYH6 Sick sinus syndrome 3 None 160710 614090 14 NA -MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Liang distal myopathy Autosomal dominant 160760 160500 14 5'-B-4.5kb-A-3' -MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Left ventricular noncompaction 5 Autosomal dominant 160760 613426 14 5'-B-4.5kb-A-3' -MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Cardiomyopathy, hypertrophic, 1 Autosomal dominant 160760 192600 14 5'-B-4.5kb-A-3' -MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Scapuloperoneal syndrome, myopathic type Autosomal dominant 160760 181430 14 5'-B-4.5kb-A-3' MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Cardiomyopathy, dilated, 1S Autosomal dominant 160760 613426 14 5'-B-4.5kb-A-3' MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Myopathy, myosin storage, autosomal recessive Autosomal recessive 160760 255160 14 5'-B-4.5kb-A-3' MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Myopathy, myosin storage, autosomal dominant Autosomal dominant 160760 608358 14 5'-B-4.5kb-A-3' +MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Left ventricular noncompaction 5 Autosomal dominant 160760 613426 14 5'-B-4.5kb-A-3' +MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Laing distal myopathy Autosomal dominant 160760 160500 14 5'-B-4.5kb-A-3' +MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Cardiomyopathy, hypertrophic, 1 Autosomal dominant 160760 192600 14 5'-B-4.5kb-A-3' +MYH7|CMH1|MPD1|CMD1S|SPMM|SPMD MYH7|MYH7|MYH7|MYH7|NA|NA MYH7 Scapuloperoneal syndrome, myopathic type Autosomal dominant 160760 181430 14 5'-B-4.5kb-A-3' NRL|D14S46E|RP27 NRL|NRL|NRL NRL Retinitis pigmentosa 27 Autosomal dominant 162080 613750 14 NA NRL|D14S46E|RP27 NRL|NRL|NRL NRL Retinal degeneration, autosomal recessive, clumped pigment type None 162080 NA 14 NA PCK2|PEPCK2 PCK2|PCK2 PCK2 PEPCK deficiency, mitochondrial Autosomal recessive 614095 261650 14 NA ARVD3 ARVD3 ARVD3 Arrhythmogenic right ventricular dysplasia 3 Autosomal dominant 602086 602086 14 ?distinct from ARVD1 DFNB5 DFNB5 DFNB5 Deafness, autosomal recessive 5 Autosomal recessive 600792 600792 14 NA SPG32 SPG32 SPG32 Spastic paraplegia 32, autosomal recessive Autosomal recessive 611252 611252 14 between D14S264 and D14S978 -TINF2|TIN2|DKCA3 TINF2|TINF2|NA TINF2 Dyskeratosis congenita, autosomal dominant 3 Autosomal dominant 604319 613990 14 NA TINF2|TIN2|DKCA3 TINF2|TINF2|NA TINF2 Revesz syndrome Autosomal dominant 604319 268130 14 NA +TINF2|TIN2|DKCA3 TINF2|TINF2|NA TINF2 Dyskeratosis congenita, autosomal dominant 3 Autosomal dominant 604319 613990 14 NA TGM1|ICR2|ARCI1 TGM1|TGM1|NA TGM1 Ichthyosis, congenital, autosomal recessive 1 Autosomal recessive 190195 242300 14 NA FOXG1|FOXG1B|FKHL1|FKH2|QIN|BF1 FOXG1|FOXG1|FOXG1|FOXG1|FOXG1|FOXG1 FOXG1 Rett syndrome, congenital variant Isolated cases 164874 613454 14 NA COCH|DFNA9 COCH|COCH COCH Deafness, autosomal dominant 9 Autosomal dominant 603196 601369 14 NA AP4S1|CPSQ6|SPG52 AP4S1|NA|AP4S1 AP4S1 Spastic paraplegia 52, autosomal recessive Autosomal recessive 607243 614067 14 NA -NUBPL|IND1 NUBPL|NUBPL NUBPL Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 613621 252010 14 NA +NUBPL|IND1 NUBPL|NUBPL NUBPL Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 613621 252010 14 NA CFL2|NEM7 CFL2|CFL2 CFL2 Nemaline myopathy 7, autosomal recessive Autosomal recessive 601443 610687 14 NA PSMA6|PROS27|P27K PSMA6|PSMA6|NA PSMA6 Myocardial infarcation, susceptibility to None 602855 608446 14 NA NFKBIA|IKBA NFKBIA|NFKBIA NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency Autosomal dominant 164008 612132 14 NA +NKX2-1|TITF1|NKX2A|TTF1|NMTC1 NKX2-1|NKX2-1|NKX2-1|NKX2-1,TTF1|NA NKX2-1,TTF1 Chorea, hereditary benign Autosomal dominant 600635 118700 14 NA NKX2-1|TITF1|NKX2A|TTF1|NMTC1 NKX2-1|NKX2-1|NKX2-1|NKX2-1,TTF1|NA NKX2-1,TTF1 Thyroid cancer, monmedullary, 1 Autosomal dominant 600635 188550 14 NA NKX2-1|TITF1|NKX2A|TTF1|NMTC1 NKX2-1|NKX2-1|NKX2-1|NKX2-1,TTF1|NA NKX2-1,TTF1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress Autosomal dominant 600635 610978 14 NA -NKX2-1|TITF1|NKX2A|TTF1|NMTC1 NKX2-1|NKX2-1|NKX2-1|NKX2-1,TTF1|NA NKX2-1,TTF1 Chorea, hereditary benign Autosomal dominant 600635 118700 14 NA PAX9|STHAG3 PAX9|NA PAX9 Tooth agenesis, selective, 3 Autosomal dominant 167416 604625 14 NA SEC23A|CLSD SEC23A|NA SEC23A Craniolenticulosutural dysplasia Autosomal recessive 610511 607812 14 NA RPS29|DBA13 RPS29|NA RPS29 Diamond-Blackfan anemia 13 Autosomal dominant 603633 615909 14 NA @@ -4247,30 +4289,30 @@ SOS2|NS9 SOS2|NA SOS2 Noonan syndrome 9 Autosomal dominant 601247 616559 14 NA L2HGDH|C14orf160|L2HGA L2HGDH|L2HGDH|NA L2HGDH L-2-hydroxyglutaric aciduria Autosomal recessive 609584 236792 14 NA CTRCT32|CTAA1|CAP|CTPP5 NA|CTAA1|BRD4,CAP1,HACD1,LNPEP,SERPINB6,SORBS1|NA HACD1,CAP1,LNPEP,SORBS1,BRD4,CTAA1,SERPINB6 Cataract 32, multiple types Autosomal dominant 115650 115650 14 between D14S980 and D14S1069 MYP18 MYP18 MYP18 Myopia 18 Autosomal recessive 255500 255500 14 between D14S984 and D14S999 -ATL1|SPG3A|HSN1D ATL1|ATL1|NA ATL1 Spastic paraplegia 3A, autosomal dominant Autosomal dominant 606439 182600 14 NA ATL1|SPG3A|HSN1D ATL1|ATL1|NA ATL1 Neuropathy, hereditary sensory, type ID Autosomal dominant 606439 613708 14 NA +ATL1|SPG3A|HSN1D ATL1|ATL1|NA ATL1 Spastic paraplegia 3A, autosomal dominant Autosomal dominant 606439 182600 14 NA NIN|KIAA1565|SCKL7 NIN|NA|NA NIN ?Seckel syndrome 7 Autosomal recessive 608684 614851 14 mutation identified in 1 SCKL7 family PYGL PYGL PYGL Glycogen storage disease VI Autosomal recessive 613741 232700 14 NA PTGDR|AS1|ASRT1 PTGDR|NA|NA PTGDR Asthma, susceptibility to, 1 None 604687 607277 14 NA PTGER2 PTGER2 PTGER2 Asthma, aspirin-induced, susceptibility to Autosomal recessive 176804 208550 14 NA DDHD1|PAPLA1|KIAA1705|SPG28 DDHD1|NA|DDHD1|DDHD1 DDHD1 Spastic paraplegia 28, autosomal recessive Autosomal recessive 614603 609340 14 NA -BMP4|BMP2B1|BMP2B|MCOPS6|OFC11 BMP4|NA|BMP4|NA|NA BMP4 Orofacial cleft 11 None 112262 600625 14 NA BMP4|BMP2B1|BMP2B|MCOPS6|OFC11 BMP4|NA|BMP4|NA|NA BMP4 Microphthalmia, syndromic 6 Autosomal dominant 112262 607932 14 NA +BMP4|BMP2B1|BMP2B|MCOPS6|OFC11 BMP4|NA|BMP4|NA|NA BMP4 Orofacial cleft 11 None 112262 600625 14 NA GCH1|DYT5|HPABH4B GCH1|GCH1|NA GCH1 Hyperphenylalaninemia, BH4-deficient, B Autosomal recessive 600225 233910 14 NA GCH1|DYT5|HPABH4B GCH1|GCH1|NA GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Autosomal dominant; Autosomal recessive 600225 128230 14 NA -OTX2|MCOPS5|CPHD6 OTX2|NA|NA OTX2 Retinal dystrophy, early-onset, with or without pituitary dysfunction Autosomal dominant 600037 610125 14 NA OTX2|MCOPS5|CPHD6 OTX2|NA|NA OTX2 Pituitary hormone deficiency, combined, 6 Autosomal dominant 600037 613986 14 NA OTX2|MCOPS5|CPHD6 OTX2|NA|NA OTX2 Microphthalmia, syndromic 5 Autosomal dominant 600037 610125 14 NA -KIAA0586|TALPID3|JBTS23|SRTD14 KIAA0586|NA|NA|NA KIAA0586 Short-rib thoracic dysplasia 14 with polydactyly Autosomal recessive 610178 616546 14 NA +OTX2|MCOPS5|CPHD6 OTX2|NA|NA OTX2 Retinal dystrophy, early-onset, with or without pituitary dysfunction Autosomal dominant 600037 610125 14 NA KIAA0586|TALPID3|JBTS23|SRTD14 KIAA0586|NA|NA|NA KIAA0586 Joubert syndrome 23 Autosomal recessive 610178 616490 14 NA +KIAA0586|TALPID3|JBTS23|SRTD14 KIAA0586|NA|NA|NA KIAA0586 Short-rib thoracic dysplasia 14 with polydactyly Autosomal recessive 610178 616546 14 NA SIX6|ODRMD SIX6|NA SIX6 Optic disc anomalies with retinal and/or macular dystrophy Autosomal recessive 606326 212550 14 NA -SIX1|BOS3|DFNA23 SIX1|NA|SIX1 SIX1 Branchiootic syndrome 3 Autosomal dominant 601205 608389 14 NA SIX1|BOS3|DFNA23 SIX1|NA|SIX1 SIX1 Deafness, autosomal dominant 23 Autosomal dominant 601205 605192 14 NA +SIX1|BOS3|DFNA23 SIX1|NA|SIX1 SIX1 Branchiootic syndrome 3 Autosomal dominant 601205 608389 14 NA TRMT5|TRM5|KIAA1393|COXPD26 TRMT5|TRMT5|TRMT5|NA TRMT5 Combined oxidative phosphorylation deficiency 26 Autosomal recessive 611023 616539 14 NA PRKCH|PKCL|PRKCL PRKCH|PRKCH|PRKCH PRKCH Cerebral infarction, susceptibility to Multifactorial 605437 601367 14 NA SYNE2|NUANCE|KIAA1011|EDMD5 SYNE2|SYNE2|SYNE2|NA SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant Autosomal dominant 608442 612999 14 NA -MTHFD|MTHFC MTHFD1|MTHFD1 MTHFD1 Abruptio placentae, susceptibility to None 172460 NA 14 trifunctional protein MTHFD|MTHFC MTHFD1|MTHFD1 MTHFD1 Spina bifida, folate-sensitive, susceptibility to Autosomal recessive 172460 601634 14 trifunctional protein +MTHFD|MTHFC MTHFD1|MTHFD1 MTHFD1 Abruptio placentae, susceptibility to None 172460 NA 14 trifunctional protein SPTB|SPH2|EL3|HS2 SPTB|NA|NA|NA SPTB Spherocytosis, type 2 Autosomal dominant 182870 616649 14 NA SPTB|SPH2|EL3|HS2 SPTB|NA|NA|NA SPTB Elliptocytosis-3 None 182870 NA 14 NA SPTB|SPH2|EL3|HS2 SPTB|NA|NA|NA SPTB Anemia, neonatal hemolytic, fatal and near-fatal None 182870 NA 14 NA @@ -4281,13 +4323,13 @@ RDH12|LCA13 RDH12|RDH12 RDH12 Leber congenital amaurosis 13 Autosomal recessive ZFYVE26|KIAA0321|SPG15 ZFYVE26|ZFYVE26|ZFYVE26 ZFYVE26 Spastic paraplegia 15, autosomal recessive Autosomal recessive 612012 270700 14 NA ACTN1|BDPLT15 ACTN1|NA ACTN1 Bleeding disorder, platelet-type, 15 Autosomal dominant 102575 615193 14 NA SMOC1|OAS SMOC1|NA SMOC1 Microphthalmia with limb anomalies Autosomal recessive 608488 206920 14 NA -PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Cardiomyopathy, dilated, 1U Autosomal dominant 104311 613694 14 NA -PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Autosomal dominant 104311 607822 14 NA -PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia Autosomal dominant 104311 607822 14 NA PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Alzheimer disease, type 3 Autosomal dominant 104311 607822 14 NA PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Pick disease Autosomal dominant; Isolated cases 104311 172700 14 NA PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Acne inversa, familial, 3 Autosomal dominant 104311 613737 14 NA PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Dementia, frontotemporal Autosomal dominant 104311 600274 14 NA +PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Cardiomyopathy, dilated, 1U Autosomal dominant 104311 613694 14 NA +PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Autosomal dominant 104311 607822 14 NA +PSEN1|AD3 PSEN1|PSEN1,TBC1D8 TBC1D8,PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia Autosomal dominant 104311 607822 14 NA GLC3C GLC3C GLC3C Glaucoma 3, primary congenital, C None 613085 613085 14 between D14S61 and D14S1000 IDDM11 IDDM11 IDDM11 Diabetes mellitus, insulin-dependent, 11 None 601208 601208 14 NA DNAL1|C14orf168|CILD16 DNAH9,DNAL1|DNAL1|DNAL1 DNAH9,DNAL1 Ciliary dyskinesia, primary, 16 Autosomal recessive 610062 614017 14 NA @@ -4298,17 +4340,17 @@ CHX10|HOX10|MCOP2|MCOPCB3 VSX2|VSX2|NA|NA VSX2 Microphthalmia with coloboma 3 No ABCD4|PXMP1L|P79R|PMP69|MAHCJ ABCD4|ABCD4|NA|ABCD4|NA ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type Autosomal recessive 603214 614857 14 NA NPC2|HE1 NPC2|NPC2 NPC2 Niemann-pick disease, type C2 Autosomal recessive 601015 607625 14 NA ISCA2|MMDS4 ISCA2|NA ISCA2 Multiple mitochondrial dysfunctions syndrome 4 Autosomal recessive 615317 616370 14 NA +LTBP2|LTBP3|GLC3D|MSPKA|WMS3 LTBP2,LTBP3|LTBP2,LTBP3|NA|NA|NA LTBP3,LTBP2 Weill-Marchesani syndrome 3, recessive Autosomal recessive 602091 614819 14 NA LTBP2|LTBP3|GLC3D|MSPKA|WMS3 LTBP2,LTBP3|LTBP2,LTBP3|NA|NA|NA LTBP3,LTBP2 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Autosomal recessive 602091 251750 14 NA LTBP2|LTBP3|GLC3D|MSPKA|WMS3 LTBP2,LTBP3|LTBP2,LTBP3|NA|NA|NA LTBP3,LTBP2 Glaucoma 3, primary congenital, D None 602091 613086 14 NA -LTBP2|LTBP3|GLC3D|MSPKA|WMS3 LTBP2,LTBP3|LTBP2,LTBP3|NA|NA|NA LTBP3,LTBP2 Weill-Marchesani syndrome 3, recessive Autosomal recessive 602091 614819 14 NA EIF2B2 EIF2B2 EIF2B2 Ovarioleukodystrophy Autosomal recessive 606454 603896 14 NA EIF2B2 EIF2B2 EIF2B2 Leukoencephalopathy with vanishing white matter Autosomal recessive 606454 603896 14 NA -MLH3|HNPCC7 MLH3|NA MLH3 Colorectal cancer, hereditary nonpolyposis, type 7 None 604395 614385 14 NA MLH3|HNPCC7 MLH3|NA MLH3 Endometrial cancer, susceptibility to None 604395 608089 14 NA MLH3|HNPCC7 MLH3|NA MLH3 Colorectal cancer, somatic None 604395 114500 14 NA -NEK9|NERCC1|LCCS10|APUG|NC NEK9|NA|NA|NA|NA NEK9 Nevus comedonicus, somatic None 609798 617025 14 mutation identified in 1 APUG family -NEK9|NERCC1|LCCS10|APUG|NC NEK9|NA|NA|NA|NA NEK9 Lethal congenital contracture syndrome 10 None 609798 617022 14 mutation identified in 1 APUG family +MLH3|HNPCC7 MLH3|NA MLH3 Colorectal cancer, hereditary nonpolyposis, type 7 None 604395 614385 14 NA +NEK9|NERCC1|LCCS10|APUG|NC NEK9|NA|NA|NA|NA NEK9 Lethal congenital contracture syndrome 10 Autosomal recessive 609798 617022 14 mutation identified in 1 APUG family NEK9|NERCC1|LCCS10|APUG|NC NEK9|NA|NA|NA|NA NEK9 ?Arthrogryposis, Perthes disease, and upward gaze palsy Autosomal recessive 609798 614262 14 mutation identified in 1 APUG family +NEK9|NERCC1|LCCS10|APUG|NC NEK9|NA|NA|NA|NA NEK9 Nevus comedonicus, somatic None 609798 617025 14 mutation identified in 1 APUG family FLVCR2|C14orf58|CCT|PVHH|EPV FLVCR2|FLVCR2|CCT|NA|NA FLVCR2,CCT Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Autosomal recessive 610865 225790 14 NA TTLL5|STAMP|KIAA0998|CORD19 TTLL5,TTLL10|NA|TTLL5|NA TTLL5,TTLL10 Cone-rod dystrophy 19 Autosomal recessive 612268 615860 14 NA TGFB3|ARVD1|RNHF|LDS5 TGFB3|TGFB3|NA|NA TGFB3 Loeys-Dietz syndrome 5 Autosomal dominant 190230 615582 14 NA @@ -4321,50 +4363,52 @@ POMT2|MDDGA2|MDDGB2|MDDGC2 POMT2|NA|NA|NA POMT2 Muscular dystrophy-dystroglycano GSTZ1|MAAI GSTZ1|GSTZ1 GSTZ1 Tyrosinemia, type Ib None 603758 NA 14 NA VIPAS39|VIPAR|SPE39|C14orf133 VIPAS39|VIPAS39|VIPAS39|VIPAS39 VIPAS39 Arthrogryposis, renal dysfunction, and cholestasis 2 Autosomal recessive 613401 613404 14 NA SPTLC2|KIAA0526|SPT2|LCB2|HSN1C|NSAN1C SPTLC2|SPTLC2|NA|SPTLC2|NA|NA SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC Autosomal dominant 605713 613640 14 NA +TSHR|CHNG1 TSHR|NA TSHR Hypothyroidism, congenital, nongoitrous, 1 Autosomal recessive 603372 275200 14 NA +TSHR|CHNG1 TSHR|NA TSHR Hyperthyroidism, nonautoimmune Autosomal dominant; Isolated cases 603372 609152 14 NA TSHR|CHNG1 TSHR|NA TSHR Hyperthyroidism, familial gestational None 603372 603373 14 NA TSHR|CHNG1 TSHR|NA TSHR Thyroid carcinoma with thyrotoxicosis None 603372 NA 14 NA TSHR|CHNG1 TSHR|NA TSHR Thyroid adenoma, hyperfunctioning, somatic None 603372 NA 14 NA -TSHR|CHNG1 TSHR|NA TSHR Hypothyroidism, congenital, nongoitrous, 1 Autosomal recessive 603372 275200 14 NA -TSHR|CHNG1 TSHR|NA TSHR Hyperthyroidism, nonautoimmune Autosomal dominant; Isolated cases 603372 609152 14 NA GALC GALC GALC Krabbe disease Autosomal recessive 606890 245200 14 NA -SPATA7|HSD3|LCA3 SPATA7|SPATA7|SPATA7 SPATA7 Retinitis pigmentosa, juvenile, autosomal recessive None 609868 604232 14 NA SPATA7|HSD3|LCA3 SPATA7|SPATA7|SPATA7 SPATA7 Leber congenital amaurosis 3 None 609868 604232 14 NA +SPATA7|HSD3|LCA3 SPATA7|SPATA7|SPATA7 SPATA7 Retinitis pigmentosa, juvenile, autosomal recessive None 609868 604232 14 NA +ZC3H14|SUT2|MRT56 ZC3H14|SLC26A7|NA ZC3H14,SLC26A7 Mental retardation, autosomal recessive 56 Autosomal recessive 613279 617125 14 NA TTC8|BBS8|RP51 TTC8|TTC8|TTC8 TTC8 Bardet-Biedl syndrome 8 Autosomal recessive 608132 615985 14 mutation identified in 1 RP51 family TTC8|BBS8|RP51 TTC8|TTC8|TTC8 TTC8 ?Retinitis pigmentosa 51 Autosomal recessive 608132 613464 14 mutation identified in 1 RP51 family CKBE CKBE CKBE Creatine kinase, brain type, ectopic expression of None 123270 123270 14 linked to IGH, PI; ?same locus as CKBB TDP1 TDP1 TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy None 607198 607250 14 NA CALM1|PHKD|CPVT4|LQT14 CALM1|CALM1,CALM2,CALM3|NA|NA CALM2,CALM3,CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4 Autosomal dominant 114180 614916 14 NA CALM1|PHKD|CPVT4|LQT14 CALM1|CALM1,CALM2,CALM3|NA|NA CALM2,CALM3,CALM1 Long QT syndrome 14 Autosomal dominant 114180 616247 14 NA -CCDC88C|HKRP2|DAPLE|KIAA1509|HYC|SCA40 CCDC88C|NA|CCDC88C|CCDC88C|NA|CCDC88C CCDC88C ?Spinocerebellar ataxia 40 Autosomal dominant 611204 616053 14 mutation identified in 1 SCA40 family CCDC88C|HKRP2|DAPLE|KIAA1509|HYC|SCA40 CCDC88C|NA|CCDC88C|CCDC88C|NA|CCDC88C CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive Autosomal recessive 611204 236600 14 mutation identified in 1 SCA40 family -FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Cutis laxa, autosomal recessive, type IA Autosomal recessive 604580 219100 14 NA -FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Cutis laxa, autosomal dominant 2 None 604580 614434 14 NA +CCDC88C|HKRP2|DAPLE|KIAA1509|HYC|SCA40 CCDC88C|NA|CCDC88C|CCDC88C|NA|CCDC88C CCDC88C ?Spinocerebellar ataxia 40 Autosomal dominant 611204 616053 14 mutation identified in 1 SCA40 family FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Neuropathy, hereditary, with or without age-related macular degeneration Autosomal dominant 604580 608895 14 NA FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Macular degeneration, age-related, 3 Autosomal dominant 604580 608895 14 NA +FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Cutis laxa, autosomal recessive, type IA Autosomal recessive 604580 219100 14 NA +FBLN5|ARMD3|ADCL2|ARCL1A|HNARMD FBLN5|FBLN5|NA|NA|NA FBLN5 Cutis laxa, autosomal dominant 2 None 604580 614434 14 NA TRIP11|TRIP230|CEV14|ACG1A TRIP11|NA|TRIP11|NA TRIP11 Achondrogenesis, type IA Autosomal recessive 604505 200600 14 NA ATXN3|MJD|SCA3 ATXN3|ATXN3|ATXN3 ATXN3 Machado-Joseph disease Autosomal dominant 607047 109150 14 NA +SLC24A4|NCKX4|SHEP6|AI2A5 SLC24A4|SLC24A4|NA|NA SLC24A4 Skin/hair/eye pigmentation 6, blue/green eyes Autosomal recessive 609840 210750 14 NA SLC24A4|NCKX4|SHEP6|AI2A5 SLC24A4|SLC24A4|NA|NA SLC24A4 Skin/hair/eye pigmentation 6, blond/brown hair Autosomal recessive 609840 210750 14 NA SLC24A4|NCKX4|SHEP6|AI2A5 SLC24A4|SLC24A4|NA|NA SLC24A4 Amelogenesis imperfecta, type IIA5 Autosomal recessive 609840 615887 14 NA -SLC24A4|NCKX4|SHEP6|AI2A5 SLC24A4|SLC24A4|NA|NA SLC24A4 Skin/hair/eye pigmentation 6, blue/green eyes Autosomal recessive 609840 210750 14 NA CBG|SERPINA6 SERPINA6|SERPINA6 SERPINA6 Corticosteroid-binding globulin deficiency Autosomal dominant; Autosomal recessive 122500 611489 14 NA +SERPINA1|PI|AAT SERPINA1|SERPINA1|SERPINA1 SERPINA1 Pulmonary disease, chronic obstructive, susceptibility to None 107400 606963 14 NA SERPINA1|PI|AAT SERPINA1|SERPINA1|SERPINA1 SERPINA1 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh Autosomal recessive 107400 613490 14 NA SERPINA1|PI|AAT SERPINA1|SERPINA1|SERPINA1 SERPINA1 Emphysema-cirrhosis, due to AAT deficiency Autosomal recessive 107400 613490 14 NA SERPINA1|PI|AAT SERPINA1|SERPINA1|SERPINA1 SERPINA1 Emphysema due to AAT deficiency Autosomal recessive 107400 613490 14 NA -SERPINA1|PI|AAT SERPINA1|SERPINA1|SERPINA1 SERPINA1 Pulmonary disease, chronic obstructive, susceptibility to None 107400 606963 14 NA SERPINA3|AACT|ACT SERPINA3|SERPINA3|ACOT7,FHL5,POTEM,SERPINA3 ACOT7,POTEM,SERPINA3,FHL5 Cerebrovascular disease, occlusive None 107280 NA 14 220kb from PI SERPINA3|AACT|ACT SERPINA3|SERPINA3|ACOT7,FHL5,POTEM,SERPINA3 ACOT7,POTEM,SERPINA3,FHL5 Alpha-1-antichymotrypsin deficiency None 107280 NA 14 220kb from PI GSC|SAMS GSC|MAT1A GSC,MAT1A Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Autosomal recessive 138890 602471 14 NA +DICER1|HERNA|KIAA0928|MNG1|RMSE2 DICER1|DICER1|DICER1|DICER1|NA DICER1 Pleuropulmonary blastoma Autosomal dominant 606241 601200 14 NA DICER1|HERNA|KIAA0928|MNG1|RMSE2 DICER1|DICER1|DICER1|DICER1|NA DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Autosomal dominant 606241 138800 14 NA DICER1|HERNA|KIAA0928|MNG1|RMSE2 DICER1|DICER1|DICER1|DICER1|NA DICER1 Rhabdomyosarcoma, embryonal, 2 None 606241 180295 14 NA -DICER1|HERNA|KIAA0928|MNG1|RMSE2 DICER1|DICER1|DICER1|DICER1|NA DICER1 Pleuropulmonary blastoma Autosomal dominant 606241 601200 14 NA GLRX5|C14orf87|PRO1238|FLB4739|PRSA|SIDBA3|SPAHGC GLRX5|GLRX5|NA|NA|NA|NA|NA GLRX5 Spasticity, childhood-onset, with hyperglycinemia Autosomal recessive 609588 616859 14 NA GLRX5|C14orf87|PRO1238|FLB4739|PRSA|SIDBA3|SPAHGC GLRX5|GLRX5|NA|NA|NA|NA|NA GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory Autosomal recessive 609588 616860 14 NA TCL1B|TML1 TCL1B|TCL1B TCL1B Leukemia/lymphoma, T-cell None 603769 603769 14 NA TCL1A|TCL1 TCL1A|TCL1A TCL1A Leukemia/lymphoma, T-cell None 186960 186960 14 NA VRK1|PCH1A VRK1|NA VRK1 Pontocerebellar hypoplasia type 1A Autosomal recessive 602168 607596 14 NA -DYNC1H1|DNCL|DNECL|CMT20|MRD13|SMALED1 DYNC1H1|DYNC1H1|DYNC1H1|NA|NA|NA DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, AD Autosomal dominant 600112 158600 14 NA +EML1|EMAPL|EMAP|BH EML1|EML1|EML1|BLMH EML1,BLMH Band heterotopia Autosomal recessive 602033 600348 14 NA DYNC1H1|DNCL|DNECL|CMT20|MRD13|SMALED1 DYNC1H1|DYNC1H1|DYNC1H1|NA|NA|NA DYNC1H1 Mental retardation, autosomal dominant 13 Autosomal dominant 600112 614563 14 NA DYNC1H1|DNCL|DNECL|CMT20|MRD13|SMALED1 DYNC1H1|DYNC1H1|DYNC1H1|NA|NA|NA DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20 Autosomal dominant 600112 614228 14 NA +DYNC1H1|DNCL|DNECL|CMT20|MRD13|SMALED1 DYNC1H1|DYNC1H1|DYNC1H1|NA|NA|NA DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, AD Autosomal dominant 600112 158600 14 NA TECPR2|KIAA0329|SPG49 TECPR2|TECPR2|CYP2U1 TECPR2,CYP2U1 Spastic paraplegia 49, autosomal recessive Autosomal recessive 615000 615031 14 NA TRAF3|CD40BP|LAP1|CAP1|CRAF1|IIAE5 TRAF3|NA|ANPEP,TRAF3|CAP1|TRAF3|NA TRAF3,ANPEP,CAP1 ?Herpes simplex encephalitis, susceptibility to, 3 None 601896 614849 14 mutation identified in 1 IIAE5 patient AMN ABCD1,AMN ABCD1,AMN Megaloblastic anemia-1, Norwegian type Autosomal recessive 605799 261100 14 NA @@ -4373,12 +4417,12 @@ XRCC3|CMM6 XRCC3|NA XRCC3 Melanoma, cutaneous malignant, 6 None 600675 613972 14 XRCC3|CMM6 XRCC3|NA XRCC3 Breast cancer, susceptibility to Autosomal dominant 600675 114480 14 NA INF2|FSGS5|C14orf173|CMTDIE INF2|NA|INF2|NA INF2 Glomerulosclerosis, focal segmental, 5 None 610982 613237 14 NA INF2|FSGS5|C14orf173|CMTDIE INF2|NA|INF2|NA INF2 Charcot-Marie-Tooth disease, dominant intermediate E Autosomal dominant 610982 614455 14 NA +AKT1|CWS6 AKT1|NA AKT1 Cowden syndrome 6 None 164730 615109 14 proximal to IGH +AKT1|CWS6 AKT1|NA AKT1 Colorectal cancer, somatic None 164730 114500 14 proximal to IGH AKT1|CWS6 AKT1|NA AKT1 Breast cancer, somatic None 164730 114480 14 proximal to IGH AKT1|CWS6 AKT1|NA AKT1 Schizophrenia, susceptibility to Autosomal dominant 164730 181500 14 proximal to IGH AKT1|CWS6 AKT1|NA AKT1 Proteus syndrome, somatic None 164730 176920 14 proximal to IGH AKT1|CWS6 AKT1|NA AKT1 Ovarian cancer, somatic None 164730 167000 14 proximal to IGH -AKT1|CWS6 AKT1|NA AKT1 Cowden syndrome 6 None 164730 615109 14 proximal to IGH -AKT1|CWS6 AKT1|NA AKT1 Colorectal cancer, somatic None 164730 114500 14 proximal to IGH ZBTB42|ZNF925|LCCS6 ZBTB42|ZBTB42|NA ZBTB42 ?Lethal congenital contracture syndrome 6 Autosomal recessive 613915 616248 14 mutation identified in 1 LCCS6 family BRF1|TAF3C|GTF3B|TF3B90|CFDS BRF1,ZFP36L1|BRF1|BRF1|NA|NA BRF1,ZFP36L1 Cerebellofaciodental syndrome Autosomal recessive 604902 616202 14 NA IGHG2 IGHG2 IGHG2 IgG2 deficiency, selective None 147110 NA 14 5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein @@ -4391,25 +4435,26 @@ MAGEL2|NDNL1|SHFYNG MAGEL2|MAGEL2|NA MAGEL2 Schaaf-Yang syndrome Autosomal domin NDN NDN NDN Prader-Willi syndrome Isolated cases 602117 176270 15 NA SNRPN SNRPN SNRPN Prader-Willi syndrome Isolated cases 182279 176270 15 NA UBE3A|ANCR UBE3A|UBE3A,DANCR,ANCR ANCR,UBE3A,DANCR Angelman syndrome Isolated cases 601623 105830 15 same location as PWS -GABRB3|ECA5 GABRB3|NA GABRB3 Epilepsy, childhood absence, susceptibility to, 5 None 137192 612269 15 NA +GABRB3|ECA5|EIEE43 GABRB3|NA|NA GABRB3 Epilepsy, childhood absence, susceptibility to, 5 None 137192 612269 15 NA +GABRB3|ECA5|EIEE43 GABRB3|NA|NA GABRB3 Epileptic encephalopathy, early infantile, 43 Autosomal dominant 137192 617113 15 NA +OCA2|P|PED|D15S12|BOCA|EYCL3|HCL3|SHEP1 OCA2|OCA2|PEA15|OCA2|MESDC2|OCA2|HCL3|NA HCL3,PEA15,MESDC2,OCA2 Albinism, brown oculocutaneous Autosomal recessive 611409 203200 15 ?hypopigmentation in PWS and AS OCA2|P|PED|D15S12|BOCA|EYCL3|HCL3|SHEP1 OCA2|OCA2|PEA15|OCA2|MESDC2|OCA2|HCL3|NA HCL3,PEA15,MESDC2,OCA2 Skin/hair/eye pigmentation 1, blue/nonblue eyes Autosomal recessive 611409 227220 15 ?hypopigmentation in PWS and AS OCA2|P|PED|D15S12|BOCA|EYCL3|HCL3|SHEP1 OCA2|OCA2|PEA15|OCA2|MESDC2|OCA2|HCL3|NA HCL3,PEA15,MESDC2,OCA2 Skin/hair/eye pigmentation 1, blond/brown hair Autosomal recessive 611409 227220 15 ?hypopigmentation in PWS and AS OCA2|P|PED|D15S12|BOCA|EYCL3|HCL3|SHEP1 OCA2|OCA2|PEA15|OCA2|MESDC2|OCA2|HCL3|NA HCL3,PEA15,MESDC2,OCA2 Albinism, oculocutaneous, type II Autosomal recessive 611409 203200 15 ?hypopigmentation in PWS and AS -OCA2|P|PED|D15S12|BOCA|EYCL3|HCL3|SHEP1 OCA2|OCA2|PEA15|OCA2|MESDC2|OCA2|HCL3|NA HCL3,PEA15,MESDC2,OCA2 Albinism, brown oculocutaneous Autosomal recessive 611409 203200 15 ?hypopigmentation in PWS and AS +HERC2|SHEP1|MRT38 HERC2|NA|NA HERC2 Mental retardation, autosomal recessive 38 Autosomal recessive 605837 615516 15 mutations in intron 4 HERC2|SHEP1|MRT38 HERC2|NA|NA HERC2 Skin/hair/eye pigmentation 1, blue/nonblue eyes Autosomal recessive 605837 227220 15 mutations in intron 4 HERC2|SHEP1|MRT38 HERC2|NA|NA HERC2 Skin/hair/eye pigmentation 1, blond/brown hair Autosomal recessive 605837 227220 15 mutations in intron 4 -HERC2|SHEP1|MRT38 HERC2|NA|NA HERC2 Mental retardation, autosomal recessive 38 Autosomal recessive 605837 615516 15 mutations in intron 4 FAN1|MTMR15|KIAA1018|KMIN FAN1|FAN1|FAN1|NA FAN1 Interstitial nephritis, karyomegalic Autosomal recessive 613534 614817 15 NA TRPM1|MLSN1|CSNB1C TRPM1|TRPM1|TRPM1 TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive None 603576 613216 15 NA CHRNA7 CHRNA7 CHRNA7 Schizophrenia, neurophysiologic defect in None 118511 118511 15 NA -EIG7|EJM2 EJM2|EJM2 EJM2 Epilepsy, juvenile myoclonic Autosomal recessive 604827 604827 15 ?role of CHRNA7 EIG7|EJM2 EJM2|EJM2 EJM2 Epilepsy, idiopathic generalized, susceptibility to, 7 Autosomal recessive 604827 604827 15 ?role of CHRNA7 +EIG7|EJM2 EJM2|EJM2 EJM2 Epilepsy, juvenile myoclonic Autosomal recessive 604827 604827 15 ?role of CHRNA7 SLC12A6|KCC3A|KCC3B|KCC3|ACCPN SLC12A6|NA|NA|SLC12A6|SLC12A6 SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy Autosomal recessive 604878 218000 15 NA NOLA3|NOP10|DKCB1 NOP10|NOP10|NA NOP10 Dyskeratosis congenita, autosomal recessive 1 Autosomal recessive 606471 224230 15 NA +ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Cardiomyopathy, dilated, 1R Autosomal dominant 102540 613424 15 NA +ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Atrial septal defect 5 Autosomal dominant 102540 612794 15 NA ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Left ventricular noncompaction 4 Autosomal dominant 102540 613424 15 NA ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Cardiomyopathy, hypertrophic, 11 Autosomal dominant 102540 612098 15 NA -ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Cardiomyopathy, dilated, 1R Autosomal dominant 102540 613424 15 NA -ACTC1|CMD1R|CMH11|ASD5|LVNC4 ACTC1|ACTC1|NA|NA|NA ACTC1 Atrial septal defect 5 None 102540 612794 15 NA C15orf41 C15orf41 C15orf41 Dyserythropoietic anemia, congenital, type Ib Autosomal recessive 615626 615631 15 NA SPRED1|NFLS SPRED1|NA SPRED1 Legius syndrome Autosomal dominant 609291 611431 15 NA SCZD10 SCZD10 SCZD10 Schizophrenia 10 Autosomal dominant 605419 605419 15 between D15S1042 and D15S659 @@ -4424,7 +4469,7 @@ CASC5|AF15Q14|KIAA1570|D40|MCPH4 CASC5|CASC5|NA|CASC5|CEP152 CEP152,CASC5 Microc RAD51A|RECA|MRMV2 RAD51|RAD51|NA RAD51 Breast cancer, susceptibility to Autosomal dominant 179617 114480 15 NA RAD51A|RECA|MRMV2 RAD51|RAD51|NA RAD51 Mirror movements 2 Autosomal dominant 179617 614508 15 NA DLL4|AOS6 DLL4|NA DLL4 Adams-Oliver syndrome 6 Autosomal dominant 605185 616589 15 NA -NDUFAF1|CIA30|CGI65 NDUFAF1|NDUFAF1|NA NDUFAF1 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 606934 252010 15 NA +NDUFAF1|CIA30|CGI65 NDUFAF1|NDUFAF1|NA NDUFAF1 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 606934 252010 15 NA CAPN3|CANP3 CAPN3|CAPN3 CAPN3 Muscular dystrophy, limb-girdle, type 2A Autosomal recessive 114240 253600 15 NA CDAN1|CDA1|CDAN1A CDAN1|TSPYL2|NA CDAN1,TSPYL2 Dyserythropoietic anemia, congenital, type Ia Autosomal recessive 607465 224120 15 NA TTBK2|SCA11 TTBK2|TTBK2 TTBK2 Spinocerebellar ataxia 11 Autosomal dominant 611695 604432 15 NA @@ -4449,6 +4494,8 @@ BLOC1S6|BLOS6|PLDN|PA|HPS9 BLOC1S6|NA|BLOC1S6|BLOC1S6,EPB42|BLOC1S6 BLOC1S6,EPB4 SLC24A5|NCKX5|SHEP4|OCA6 SLC24A5|NA|NA|SLC24A5 SLC24A5 Skin/hair/eye pigmentation 4, fair/dark skin Autosomal recessive 609802 113750 15 NA SLC24A5|NCKX5|SHEP4|OCA6 SLC24A5|NA|NA|SLC24A5 SLC24A5 Albinism, oculocutaneous, type VI Autosomal recessive 609802 113750 15 NA SLC12A1|NKCC2 SLC12A1|SLC12A1 SLC12A1 Bartter syndrome, type 1 Autosomal recessive 600839 601678 15 NA +FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Marfan lipodystrophy syndrome Autosomal dominant 134797 616914 15 NA +FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Geleophysic dysplasia 2 Autosomal dominant 134797 614185 15 NA FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Weill-Marchesani syndrome 2, dominant Autosomal dominant 134797 608328 15 NA FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Ectopia lentis, familial Autosomal dominant 134797 129600 15 NA FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Stiff skin syndrome Autosomal dominant 134797 184900 15 NA @@ -4456,16 +4503,14 @@ FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 MASS syndrome None 134797 604308 15 NA FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Acromicric dysplasia Autosomal dominant 134797 102370 15 NA FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Marfan syndrome Autosomal dominant 134797 154700 15 NA -FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Marfan lipodystrophy syndrome Autosomal dominant 134797 616914 15 NA -FBN1|MFS1|WMS2|SSKS|GPHYSD2|ACMICD|ECTOL1|MFLS FBN1|FBN1|NA|NA|NA|NA|NA|NA FBN1 Geleophysic dysplasia 2 Autosomal dominant 134797 614185 15 NA CEP152|KIAA0912|MCPH9|SCKL5 CEP152|CEP152|NA|CEP152 CEP152 Seckel syndrome 5 Autosomal recessive 613529 613823 15 NA CEP152|KIAA0912|MCPH9|SCKL5 CEP152|CEP152|NA|CEP152 CEP152 Microcephaly 9, primary, autosomal recessive Autosomal recessive 613529 614852 15 NA HDC HDC,HECA HECA,HDC Gilles de la Tourette syndrome, susceptibility to Autosomal dominant 142704 137580 15 NA TRPM7|LTRPC7|CHAK|ALSPDC TRPM7|TRPM7|NA|NA TRPM7 Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to Autosomal dominant 605692 105500 15 NA -AP4E1|SPG51|CPSQ4|STUT1 AP4E1|AP4E1|NA|NA AP4E1 Stuttering, familial persistent, 1 Autosomal dominant 607244 184450 15 NA AP4E1|SPG51|CPSQ4|STUT1 AP4E1|AP4E1|NA|NA AP4E1 Spastic paraplegia 51, autosomal recessive Autosomal recessive 607244 613744 15 NA -CYP19A1|CYP19|ARO CYP19A1|CYP19A1|CYP19A1 CYP19A1 Aromatase excess syndrome Autosomal dominant 107910 139300 15 close to CYP11 in mouse +AP4E1|SPG51|CPSQ4|STUT1 AP4E1|AP4E1|NA|NA AP4E1 Stuttering, familial persistent, 1 Autosomal dominant 607244 184450 15 NA CYP19A1|CYP19|ARO CYP19A1|CYP19A1|CYP19A1 CYP19A1 Aromatase deficiency None 107910 613546 15 close to CYP11 in mouse +CYP19A1|CYP19|ARO CYP19A1|CYP19A1|CYP19A1 CYP19A1 Aromatase excess syndrome Autosomal dominant 107910 139300 15 close to CYP11 in mouse DMXL2|RC3|KIAA0856|PEPNS DMXL2|DMXL2,NRGN|DMXL2|NA DMXL2,NRGN ?Polyendocrine-polyneuropathy syndrome Autosomal recessive 612186 616113 15 mutation identified in 1 PEPNS family MYO5A|MYH12|GS1 MYO5A|MYO5A|HDHD1,MYO5A MYO5A,HDHD1 Griscelli syndrome, type 1 Autosomal recessive 160777 214450 15 NA WDR72|AI2A3 WDR72|NA WDR72 Amelogenesis imperfecta, type IIA3 Autosomal recessive 613214 613211 15 NA @@ -4473,22 +4518,23 @@ RAB27A|RAM|GS2 RAB27A|FAM103A1,RAB27A,CCDC26|PNPLA4,RAB27A FAM103A1,RAB27A,PNPLA DYX1C1|DYXC1|DYX1|CILD25 DYX1C1|NA|DYX1|DYX1C1 DYX1,DYX1C1 Dyslexia, susceptibility to, 1 Autosomal dominant 608706 127700 15 not confirmed by some studies DYX1C1|DYXC1|DYX1|CILD25 DYX1C1|NA|DYX1|DYX1C1 DYX1,DYX1C1 Ciliary dyskinesia, primary, 25 Autosomal recessive 608706 615482 15 not confirmed by some studies TCF12|HTF4|CRS3 TCF12|TCF12|CRISP3 CRISP3,TCF12 Craniosynostosis 3 Autosomal dominant 600480 615314 15 NA +LIPC|HL|LIPH|HDLCQ12 LIPC|HMGCL,LIPC|LIPH|NA HMGCL,LIPH,LIPC Hepatic lipase deficiency Autosomal recessive 151670 614025 15 NA LIPC|HL|LIPH|HDLCQ12 LIPC|HMGCL,LIPC|LIPH|NA HMGCL,LIPH,LIPC Diabetes mellitus, noninsulin-dependent Autosomal dominant 151670 125853 15 NA LIPC|HL|LIPH|HDLCQ12 LIPC|HMGCL,LIPC|LIPH|NA HMGCL,LIPH,LIPC High density lipoprotein cholesterol level QTL 12 None 151670 612797 15 NA -LIPC|HL|LIPH|HDLCQ12 LIPC|HMGCL,LIPC|LIPH|NA HMGCL,LIPH,LIPC Hepatic lipase deficiency Autosomal recessive 151670 614025 15 NA ADAM10|MADM|RAK|AD18 ADAM10|ADAM10,NRBP1|FRK|NA ADAM10,FRK,NRBP1 Alzheimer disease 18, susceptibility to None 602192 615590 15 NA ADAM10|MADM|RAK|AD18 ADAM10|ADAM10,NRBP1|FRK|NA ADAM10,FRK,NRBP1 Reticulate acropigmentation of Kitamura Autosomal dominant 602192 615537 15 NA GLC1N GLC1N GLC1N Glaucoma 1, open angle, N None 611274 611274 15 max lod at D15S125 USH1H USH1H USH1H Usher syndrome, type 1H None 612632 612632 15 max lod at D15S980 MYO1E|MYO1C|FSGS6 MYO1E|MYO1C,MYO1E|NA MYO1E,MYO1C Glomerulosclerosis, focal segmental, 6 Autosomal recessive 601479 614131 15 NA VPS13C|KIAA1421|PARK23 VPS13C|VPS13C|NA VPS13C Parkinson disease 23, autosomal recessive, early onset Autosomal recessive 608879 616840 15 NA -TPM1|CMH3|CMD1Y|LVNC9 TPM1|TPM1|NA|NA TPM1 Left ventricular noncompaction 9 Autosomal dominant 191010 611878 15 NA TPM1|CMH3|CMD1Y|LVNC9 TPM1|TPM1|NA|NA TPM1 Cardiomyopathy, hypertrophic, 3 Autosomal dominant 191010 115196 15 NA TPM1|CMH3|CMD1Y|LVNC9 TPM1|TPM1|NA|NA TPM1 Cardiomyopathy, dilated, 1Y Autosomal dominant 191010 611878 15 NA +TPM1|CMH3|CMD1Y|LVNC9 TPM1|TPM1|NA|NA TPM1 Left ventricular noncompaction 9 Autosomal dominant 191010 611878 15 NA CA12 CA12 CA12 Hyperchlorhidrosis, isolated Autosomal recessive 603263 143860 15 NA -HERC1|MDFPMR HERC1|NA HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation None 605109 617011 15 NA +HERC1|MDFPMR HERC1|NA HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation Autosomal recessive 605109 617011 15 NA PPIB|CYPB|OI9 PPIB|PPIB|PPIB PPIB Osteogenesis imperfecta, type IX Autosomal recessive 123841 259440 15 NA -TRIP4|ASC1|SMABF1 TRIP4|NA|NA TRIP4 Spinal muscular atrophy with congenital bone fractures 1 Autosomal recessive 604501 616866 15 NA +TRIP4|ASC1|SMABF1|MDCDC TRIP4|NA|NA|NA TRIP4 Spinal muscular atrophy with congenital bone fractures 1 Autosomal recessive 604501 616866 15 mutation identified in 1 MDCDC family +TRIP4|ASC1|SMABF1|MDCDC TRIP4|NA|NA|NA TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type Autosomal recessive 604501 617066 15 mutation identified in 1 MDCDC family ACP33|MAST|SPG21 SPG21|SPG21|SPG21 SPG21 Mast syndrome Autosomal recessive 608181 248900 15 NA MTFMT|COXPD15 MTFMT|NA MTFMT Combined oxidative phosphorylation deficiency 15 Autosomal recessive 611766 614947 15 NA KBTBD13|NEM6 KBTBD13|KBTBD13 KBTBD13 Nemaline myopathy 6, autosomal dominant Autosomal dominant 613727 609273 15 NA @@ -4498,13 +4544,13 @@ MAP2K1|PRKMK1|MKK1|MEK1|CFC3 MAP2K1|MAP2K1|NA|MAP2K1|NA MAP2K1 Cardiofaciocutane SMAD6|MADH6|AOVD2 SMAD6|SMAD6,SMAD9|NA SMAD6,SMAD9 Aortic valve disease 2 Autosomal dominant 602931 614823 15 NA SMAD3|MADH3|LDS3 SMAD3|SMAD3|NA SMAD3 Loeys-Dietz syndrome 3 Autosomal dominant 603109 613795 15 NA AAGAB|p34|PPKP1A|PPKP1|KPPP1 AAGAB|AAGAB,CCNH|NA|NA|NA AAGAB,CCNH Keratoderma, palmoplantar, punctate type IA Autosomal dominant 614888 148600 15 NA -CLN6|CLN4A CLN6|NA CLN6 Ceroid lipofuscinosis, neuronal, 6 Autosomal recessive 606725 601780 15 NA CLN6|CLN4A CLN6|NA CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset Autosomal recessive 606725 204300 15 NA -NR2E3|PNR|ESCS|RP37 NR2E3|NR2E3,TAAR5|NA|NR2E3 TAAR5,NR2E3 Retinitis pigmentosa 37 Autosomal dominant; Autosomal recessive 604485 611131 15 near BBS4 +CLN6|CLN4A CLN6|NA CLN6 Ceroid lipofuscinosis, neuronal, 6 Autosomal recessive 606725 601780 15 NA NR2E3|PNR|ESCS|RP37 NR2E3|NR2E3,TAAR5|NA|NR2E3 TAAR5,NR2E3 Enhanced S-cone syndrome Autosomal recessive 604485 268100 15 near BBS4 -HEXA|TSD HEXA|NA HEXA Hex A pseudodeficiency Autosomal recessive 606869 272800 15 on 15q+ in APL +NR2E3|PNR|ESCS|RP37 NR2E3|NR2E3,TAAR5|NA|NR2E3 TAAR5,NR2E3 Retinitis pigmentosa 37 Autosomal dominant; Autosomal recessive 604485 611131 15 near BBS4 HEXA|TSD HEXA|NA HEXA Tay-Sachs disease Autosomal recessive 606869 272800 15 on 15q+ in APL HEXA|TSD HEXA|NA HEXA GM2-gangliosidosis, several forms Autosomal recessive 606869 272800 15 on 15q+ in APL +HEXA|TSD HEXA|NA HEXA Hex A pseudodeficiency Autosomal recessive 606869 272800 15 on 15q+ in APL BBS4 BBS4 BBS4 Bardet-Biedl syndrome 4 Autosomal recessive 600374 615982 15 NA HCN4|SSS2 HCN4|NA HCN4 Sick sinus syndrome 2 Autosomal dominant 605206 163800 15 NA HCN4|SSS2 HCN4|NA HCN4 Brugada syndrome 8 None 605206 613123 15 NA @@ -4516,6 +4562,7 @@ CYP11A1|P450SCC CYP11A1|CYP11A1 CYP11A1 Adrenal insufficiency, congenital, with SEMA7A|SEMAL|SEMAK1|CDW108|JMH SEMA7A|SEMA7A|NA|NA|NA SEMA7A Blood group, John-Milton-Hagen system None 607961 614745 15 NA EDC3|YJDC|MRT50 EDC3|EDC3|NA EDC3 ?Mental retardation, autosomal recessive 50 Autosomal recessive 609842 616460 15 mutation identified in 1 MRT50 family MPI|PMI1|CDG1B MPI|PMM2|NA PMM2,MPI Congenital disorder of glycosylation, type Ib Autosomal recessive 154550 602579 15 NA +SIN3A|WITKOS SIN3A|NA SIN3A Witteveen-Kolk syndrome Autosomal dominant 607776 613406 15 NA ETFA|GA2|MADD ETFA|ETFA|ETFA,MADD ETFA,MADD Glutaric acidemia IIA Autosomal recessive 608053 231680 15 NA PSTPIP1|PSTPIP|CD2BP1|PAPAS PSTPIP1|PSTPIP1|PSTPIP1|PSTPIP1 PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Autosomal dominant 606347 604416 15 NA DFNA30 DFNA30 DFNA30 Deafness, autosomal dominant 30 Autosomal dominant 606451 606451 15 NA @@ -4534,23 +4581,23 @@ AGBL1|CCP4|FECD8 AGBL1|AGBL1|NA AGBL1 Corneal dystrophy, Fuchs endothelial, 8 Au DIH1|HCD DIH1|DIH1 DIH1 Hernia, congenital diaphragmatic 1 Multifactorial 142340 142340 15 NA IDDM3 IDDM3 IDDM3 Diabetes mellitus, insulin-dependent, 3 None 600318 600318 15 NA OTSC1|OTS OTSC1|OTSC1 OTSC1 Otosclerosis 1 Autosomal dominant 166800 166800 15 NA -ACAN|AGC1|CSPG1|MSK16|SEDK ACAN|ACAN|ACAN|ACAN,CSPG4|NA ACAN,CSPG4 Osteochondritis dissecans, short stature, and early-onset osteoarthritis Autosomal dominant 155760 165800 15 NA ACAN|AGC1|CSPG1|MSK16|SEDK ACAN|ACAN|ACAN|ACAN,CSPG4|NA ACAN,CSPG4 Spondyloepiphyseal dysplasia, Kimberley type Autosomal dominant 155760 608361 15 NA ACAN|AGC1|CSPG1|MSK16|SEDK ACAN|ACAN|ACAN|ACAN,CSPG4|NA ACAN,CSPG4 Spondyloepimetaphyseal dysplasia, aggrecan type None 155760 612813 15 NA -RLBP1 RLBP1 RLBP1 Fundus albipunctatus Autosomal dominant; Autosomal recessive 180090 136880 15 NA -RLBP1 RLBP1 RLBP1 Bothnia retinal dystrophy Autosomal recessive 180090 607475 15 NA +ACAN|AGC1|CSPG1|MSK16|SEDK ACAN|ACAN|ACAN|ACAN,CSPG4|NA ACAN,CSPG4 Osteochondritis dissecans, short stature, and early-onset osteoarthritis Autosomal dominant 155760 165800 15 NA RLBP1 RLBP1 RLBP1 Retinitis punctata albescens Autosomal dominant; Autosomal recessive 180090 136880 15 NA RLBP1 RLBP1 RLBP1 Newfoundland rod-cone dystrophy None 180090 607476 15 NA +RLBP1 RLBP1 RLBP1 Fundus albipunctatus Autosomal dominant; Autosomal recessive 180090 136880 15 NA +RLBP1 RLBP1 RLBP1 Bothnia retinal dystrophy Autosomal recessive 180090 607475 15 NA FANCI|KIAA1794 FANCI|FANCI FANCI Fanconi anemia, complementation group I None 611360 609053 15 NA +POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Autosomal recessive 174763 607459 15 PEO also digenic with C10orf2 +POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Mitochondrial DNA depletion syndrome 4B (MNGIE type) Autosomal recessive 174763 613662 15 PEO also digenic with C10orf2 POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Mitochondrial DNA depletion syndrome 4A (Alpers type) Autosomal recessive 174763 203700 15 PEO also digenic with C10orf2 POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Progressive external ophthalmoplegia, autosomal recessive 1 Autosomal recessive 174763 258450 15 PEO also digenic with C10orf2 POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Progressive external ophthalmoplegia, autosomal dominant 1 Autosomal dominant 174763 157640 15 PEO also digenic with C10orf2 -POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Autosomal recessive 174763 607459 15 PEO also digenic with C10orf2 -POLG|POLG1|POLGA|PEO|SANDO|SCAE|MTDPS4A|MTDPS4B|MIRAS POLG|POLG|POLG|C10orf2|NA|NA|NA|NA|NA POLG,C10orf2 Mitochondrial DNA depletion syndrome 4B (MNGIE type) Autosomal recessive 174763 613662 15 PEO also digenic with C10orf2 -KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 ?Al-Gazali-Bakalinova syndrome Autosomal recessive 611254 607131 15 mutation identified in 1 HLS2 family and 1 AGBK family -KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 Joubert syndrome 12 Autosomal recessive 611254 200990 15 mutation identified in 1 HLS2 family and 1 AGBK family KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 Acrocallosal syndrome Autosomal recessive 611254 200990 15 mutation identified in 1 HLS2 family and 1 AGBK family KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 ?Hydrolethalus syndrome 2 Autosomal recessive 611254 614120 15 mutation identified in 1 HLS2 family and 1 AGBK family +KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 ?Al-Gazali-Bakalinova syndrome Autosomal recessive 611254 607131 15 mutation identified in 1 HLS2 family and 1 AGBK family +KIF7|HLS2|ACLS|JBTS12|AGBK KIF7|SERPIND1|ACLS,GLI3|KIF7|NA KIF7,ACLS,SERPIND1,GLI3 Joubert syndrome 12 Autosomal recessive 611254 200990 15 mutation identified in 1 HLS2 family and 1 AGBK family PLIN1|PLIN|FPLD4 PLIN1|PLIN1|NA PLIN1 Lipodystrophy, familial partial, type 4 Autosomal dominant 170290 613877 15 NA MESP2|SCDO2 MESP2|MESP2 MESP2 Spondylocostal dysostosis 2, autosomal recessive None 605195 608681 15 NA IDH2|IDPM|D2HGA2 IDH2|NA|NA IDH2 D-2-hydroxyglutaric aciduria 2 None 147650 613657 15 NA @@ -4568,25 +4615,26 @@ CHSY1|KIAA0990|TPBS CHSY1|CHSY1|NA CHSY1 Temtamy preaxial brachydactyly syndrome BMIQ5 BMIQ5 BMIQ5 Body mass index QTL5 None 608558 608558 16 near D16S404 and D16S764 HBHR|ATR1 NA|SLC3A1 SLC3A1 Alpha-thalassemia/mental retardation syndrome, type 1 Autosomal dominant 141750 141750 16 contiguous gene syndrome involving deletion of HBA1 and HBA2 IBD8 IBD8 IBD8 Inflammatory bowel disease 8 None 606668 606668 16 NA +NPRL3|CGTHBA|FFEVF3 NPRL3|NPRL3|NA NPRL3 Epilepsy, familial focal, with variable foci 3 Autosomal dominant 600928 617118 16 NA +HBA2|HBH HBA2|NA HBA2 Thalassemia, alpha- None 141850 604131 16 NA +HBA2|HBH HBA2|NA HBA2 Hypochromic microcytic anemia None 141850 NA 16 NA HBA2|HBH HBA2|NA HBA2 Hemoglobin H disease, nondeletional None 141850 613978 16 NA HBA2|HBH HBA2|NA HBA2 Heinz body anemia Autosomal dominant 141850 140700 16 NA HBA2|HBH HBA2|NA HBA2 Erythrocytosis None 141850 NA 16 NA -HBA2|HBH HBA2|NA HBA2 Thalassemia, alpha- None 141850 604131 16 NA -HBA2|HBH HBA2|NA HBA2 Hypochromic microcytic anemia None 141850 NA 16 NA +HBA1|HBH HBA1|NA HBA1 Thalassemias, alpha- None 141800 604131 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' +HBA1|HBH HBA1|NA HBA1 Methemoglobinemias, alpha- None 141800 NA 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' HBA1|HBH HBA1|NA HBA1 Hemoglobin H disease, nondeletional None 141800 613978 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' HBA1|HBH HBA1|NA HBA1 Heinz body anemias, alpha- Autosomal dominant 141800 140700 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' HBA1|HBH HBA1|NA HBA1 Erythremias, alpha- None 141800 NA 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' -HBA1|HBH HBA1|NA HBA1 Thalassemias, alpha- None 141800 604131 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' -HBA1|HBH HBA1|NA HBA1 Methemoglobinemias, alpha- None 141800 NA 16 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' AXIN1|AXIN AXIN1|NA AXIN1 Hepatocellular carcinoma, somatic None 603816 114550 16 hypermethylation of AXIN1 promoter seen in 1 CDUP patient AXIN1|AXIN AXIN1|NA AXIN1 ?Caudal duplication anomaly None 603816 607864 16 hypermethylation of AXIN1 promoter seen in 1 CDUP patient STUB1|CHIP|SCAR16 STUB1|STUB1|NA STUB1 Spinocerebellar ataxia, autosomal recessive 16 Autosomal recessive 607207 615768 16 NA CCDC78|C16orf25|CNM4 CCDC78|CCDC78|NA CCDC78 Myopathy, centronuclear, 4 Autosomal dominant 614666 614807 16 NA LMF1|TMEM112 LMF1|LMF1 LMF1 Lipase deficiency, combined Autosomal recessive 611761 246650 16 NA -SSTR5 SSTR5 SSTR5 Somatostatin analog, resistance to Autosomal dominant; Somatic mutation 182455 NA 16 NA +SSTR5 SSTR5 SSTR5 Somatostatin analog, resistance to Somatic mutation; Autosomal dominant 182455 NA 16 NA +CACNA1H|EIG6|ECA6|HALD4 CACNA1H|NA|NA|NA CACNA1H Epilepsy, idiopathic generalized, susceptibility to, 6 None 607904 611942 16 NA CACNA1H|EIG6|ECA6|HALD4 CACNA1H|NA|NA|NA CACNA1H Epilepsy, childhood absence, susceptibility to, 6 None 607904 611942 16 NA CACNA1H|EIG6|ECA6|HALD4 CACNA1H|NA|NA|NA CACNA1H Hyperaldosteronism, familial, type IV Autosomal dominant 607904 617027 16 NA -CACNA1H|EIG6|ECA6|HALD4 CACNA1H|NA|NA|NA CACNA1H Epilepsy, idiopathic generalized, susceptibility to, 6 None 607904 611942 16 NA GNPTAG GNPTG GNPTG Mucolipidosis III gamma Autosomal recessive 607838 252605 16 NA CLCN7|CLC7|OPTA2|OPTB4 CLCN7|CLCN7|CLCN7|NA CLCN7 Osteopetrosis, autosomal recessive 4 None 602727 611490 16 NA CLCN7|CLC7|OPTA2|OPTB4 CLCN7|CLCN7|CLCN7|NA CLCN7 Osteopetrosis, autosomal dominant 2 Autosomal dominant 602727 166600 16 NA @@ -4600,14 +4648,14 @@ TSC2|LAM TSC2|TSC1,TSC2 TSC2,TSC1 Tuberous sclerosis-2 Autosomal dominant 191092 TSC2|LAM TSC2|TSC1,TSC2 TSC2,TSC1 Lymphangioleiomyomatosis, somatic None 191092 606690 16 distal to PKD1 PKD1 PKD1 PKD1 Polycystic kidney disease, adult type I Autosomal dominant 601313 173900 16 NA ABCA3|ABC3|SMDP3 ABCA3|ABCA3|NA ABCA3 Surfactant metabolism dysfunction, pulmonary, 3 Autosomal recessive 601615 610921 16 NA +TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 DOOR syndrome Autosomal recessive 613577 220500 16 NA TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 Deafness, autosomal dominant 65 Autosomal dominant 613577 616044 16 NA TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 Deafness , autosomal recessive 86 Autosomal recessive 613577 614617 16 NA TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 Myoclonic epilepsy, infantile, familial Autosomal recessive 613577 605021 16 NA TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 Epileptic encephalopathy, early infantile, 16 Autosomal recessive 613577 615338 16 NA -TBC1D24|KIAA1171|FIME|EIEE16|DOORS|DFNB86|DFNA65 TBC1D24|TBC1D24|NA|NA|NA|TBC1D24|TBC1D24 TBC1D24 DOOR syndrome Autosomal recessive 613577 220500 16 NA THOC6|FSAP35|BBIS THOC6|NA|NA THOC6 Beaulieu-Boycott-Innes syndrome Autosomal recessive 615403 613680 16 NA -MEFV|MEF|FMF MEFV|ELF4,MEFV|MEFV MEFV,ELF4 Familial Mediterranean fever, AD Autosomal dominant 608107 134610 16 between D16S80 and D16S283 MEFV|MEF|FMF MEFV|ELF4,MEFV|MEFV MEFV,ELF4 Familial Mediterranean fever, AR Autosomal recessive 608107 249100 16 between D16S80 and D16S283 +MEFV|MEF|FMF MEFV|ELF4,MEFV|MEFV MEFV,ELF4 Familial Mediterranean fever, AD Autosomal dominant 608107 134610 16 between D16S80 and D16S283 SLX4|BTBD12|MUS312|KIAA1784|KIAA1987|FANCP SLX4|SLX4|NA|SLX4|SLX4|SLX4 SLX4 Fanconi anemia, complementation group P Autosomal recessive 613278 613951 16 NA DNASE1|DNL1 DNASE1|DNASE1 DNASE1 Systemic lupus erythematosus, susceptibility to Autosomal dominant 125505 152700 16 NA CREBBP|CBP|RSTS CREBBP|CREBBP,OPN1LW,PAG1|CREBBP PAG1,CREBBP,OPN1LW Rubinstein-Taybi syndrome Autosomal dominant 600140 180849 16 fusion partner with MORF in AML; fusion partner with MLL in therapy-related acute leukemia; fusion partner with MOZ in AML @@ -4620,98 +4668,98 @@ ABAT|GABAT ABAT|ABAT ABAT GABA-transaminase deficiency Autosomal recessive 13715 PMM2|CDG1A PMM2|NA PMM2 Congenital disorder of glycosylation, type Ia Autosomal recessive 601785 212065 16 NA GRIN2A|NMDAR2A|FESD|LKS GRIN2A|GRIN2A|NA|NA GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation Autosomal dominant 138253 245570 16 NA EMP2|NPHS10 EMP2|NA EMP2 Nephrotic syndrome, type 10 Autosomal recessive 602334 615861 16 NA -MHC2TA|C2TA CIITA|CIITA,DONSON CIITA,DONSON Bare lymphocyte syndrome, type II, complementation group A Autosomal recessive 600005 209920 16 NA MHC2TA|C2TA CIITA|CIITA,DONSON CIITA,DONSON Rheumatoid arthritis, susceptibility to None 600005 180300 16 NA +MHC2TA|C2TA CIITA|CIITA,DONSON CIITA,DONSON Bare lymphocyte syndrome, type II, complementation group A Autosomal recessive 600005 209920 16 NA LITAF|CMT1C LITAF|NA LITAF Charcot-Marie-Tooth disease, type 1C Autosomal dominant 603795 601098 16 NA +ERCC4|XPF|FANCQ|XFEPS ERCC4|ERCC4|ERCC4|NA ERCC4 ?XFE progeroid syndrome None 133520 610965 16 mutation identified in 1 XFEPS patient ERCC4|XPF|FANCQ|XFEPS ERCC4|ERCC4|ERCC4|NA ERCC4 Xeroderma pigmentosum, type F/Cockayne syndrome Autosomal recessive 133520 278760 16 mutation identified in 1 XFEPS patient ERCC4|XPF|FANCQ|XFEPS ERCC4|ERCC4|ERCC4|NA ERCC4 Xeroderma pigmentosum, group F Autosomal recessive 133520 278760 16 mutation identified in 1 XFEPS patient ERCC4|XPF|FANCQ|XFEPS ERCC4|ERCC4|ERCC4|NA ERCC4 Fanconi anemia, complementation group Q Autosomal recessive 133520 615272 16 mutation identified in 1 XFEPS patient -ERCC4|XPF|FANCQ|XFEPS ERCC4|ERCC4|ERCC4|NA ERCC4 ?XFE progeroid syndrome None 133520 610965 16 mutation identified in 1 XFEPS patient -PARN|DAN|DKCB6|PFBMFT4 PARN|NBL1,PARN|NA|NA PARN,NBL1 Dyskeratosis congenita, autosomal recessive 6 Autosomal recessive 604212 616353 16 NA PARN|DAN|DKCB6|PFBMFT4 PARN|NBL1,PARN|NA|NA PARN,NBL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 Autosomal dominant 604212 616371 16 NA +PARN|DAN|DKCB6|PFBMFT4 PARN|NBL1,PARN|NA|NA PARN,NBL1 Dyskeratosis congenita, autosomal recessive 6 Autosomal recessive 604212 616353 16 NA NDE1|NUDE|LIS4|MHAC NDE1|NA|NA|MHAC NDE1,MHAC Lissencephaly 4 (with microcephaly) Autosomal recessive 609449 614019 16 mutation identified in 1 MHAC family NDE1|NUDE|LIS4|MHAC NDE1|NA|NA|MHAC NDE1,MHAC ?Microhydranencephaly Autosomal recessive 609449 605013 16 mutation identified in 1 MHAC family MYH11|AAT4|FAA4 MYH11|NA|NA MYH11 Aortic aneurysm, familial thoracic 4 Autosomal dominant 160745 132900 16 fused with CBFB by inversion in acute myelomonocytic leukemia -ABCC6|ARA|ABC34|MLP1|PXE|GACI2 ABCC6|ABCC6,FOXC1|NA|ABCC6,MARCKSL1|ABCC6|NA MARCKSL1,ABCC6,FOXC1 Pseudoxanthoma elasticum, forme fruste Autosomal dominant 603234 177850 16 NA ABCC6|ARA|ABC34|MLP1|PXE|GACI2 ABCC6|ABCC6,FOXC1|NA|ABCC6,MARCKSL1|ABCC6|NA MARCKSL1,ABCC6,FOXC1 Pseudoxanthoma elasticum Autosomal recessive 603234 264800 16 NA ABCC6|ARA|ABC34|MLP1|PXE|GACI2 ABCC6|ABCC6,FOXC1|NA|ABCC6,MARCKSL1|ABCC6|NA MARCKSL1,ABCC6,FOXC1 Arterial calcification, generalized, of infancy, 2 Autosomal recessive 603234 614473 16 NA +ABCC6|ARA|ABC34|MLP1|PXE|GACI2 ABCC6|ABCC6,FOXC1|NA|ABCC6,MARCKSL1|ABCC6|NA MARCKSL1,ABCC6,FOXC1 Pseudoxanthoma elasticum, forme fruste Autosomal dominant 603234 177850 16 NA MAFD4|BPAD NA|MAFD1 MAFD1 Major affective disorder 4 None 611247 611247 16 max lod at D16S769 RP22 RP22 RP22 Retinitis pigmentosa 22 None 602594 602594 16 NA -XYLT1|XT1|DBQD2 XYLT1|NA|NA XYLT1 Pseudoxanthoma elasticum, modifier of severity of Autosomal recessive 608124 264800 16 NA XYLT1|XT1|DBQD2 XYLT1|NA|NA XYLT1 Desbuquois dysplasia 2 Autosomal recessive 608124 615777 16 NA +XYLT1|XT1|DBQD2 XYLT1|NA|NA XYLT1 Pseudoxanthoma elasticum, modifier of severity of Autosomal recessive 608124 264800 16 NA ARL6IP1|KIAA0069|SPG61 ARL6IP1|ARL6IP1|ARL6IP1 ARL6IP1 ?Spastic paraplegia 61, autosomal recessive Autosomal recessive 607669 615685 16 mutation identified in 1 family COQ7|CLK1|COQ10D8 COQ7|CLK1|NA CLK1,COQ7 ?Coenzyme Q10 deficiency, primary, 8 Autosomal recessive 601683 616733 16 mutation identified in 1 COQ10D8 patient -UMOD|HNFJ1|FJHN|MCKD2|ADMCKD2 UMOD|NA|NA|MCKD2|MCKD2 UMOD,MCKD2 Glomerulocystic kidney disease with hyperuricemia and isosthenuria None 191845 609886 16 NA UMOD|HNFJ1|FJHN|MCKD2|ADMCKD2 UMOD|NA|NA|MCKD2|MCKD2 UMOD,MCKD2 Medullary cystic kidney disease 2 None 191845 603860 16 NA UMOD|HNFJ1|FJHN|MCKD2|ADMCKD2 UMOD|NA|NA|MCKD2|MCKD2 UMOD,MCKD2 Hyperuricemic nephropathy, familial juvenile 1 Autosomal dominant 191845 162000 16 NA +UMOD|HNFJ1|FJHN|MCKD2|ADMCKD2 UMOD|NA|NA|MCKD2|MCKD2 UMOD,MCKD2 Glomerulocystic kidney disease with hyperuricemia and isosthenuria None 191845 609886 16 NA ACSM3|SAH ACSM3|ACSM3 ACSM3 ?Hypertension, essential None 145505 NA 16 NA -MRT10|MRT20 MRT10|MRT20 MRT20,MRT10 Mental retardation, autosomal recessive 10/20 None 611096 611096 16 between rs724466 and rs3901517, rs7197568 and rs71972227 -CRYM|DFNA40 CRYM|DFNA40,CRYM CRYM,DFNA40 Deafness, autosomal dominant 40 None 123740 616357 16 NA +MRT10|MRT20 MRT10|MRT20 MRT20,MRT10 Mental retardation, autosomal recessive 10/20 Autosomal recessive 611096 611096 16 between rs724466 and rs3901517, rs7197568 and rs71972227 +CRYM|DFNA40 CRYM|DFNA40,CRYM CRYM,DFNA40 Deafness, autosomal dominant 40 Autosomal dominant 123740 616357 16 NA OTOA|DFNB22 OTOA|OTOA OTOA Deafness, autosomal recessive 22 Autosomal recessive 607038 607039 16 NA UQCRC2|MC3DN5 UQCRC2|NA UQCRC2 Mitochondrial complex III deficiency, nuclear type 5 Autosomal recessive 191329 615160 16 NA -SCNN1G|PHA1|BESC3 SCNN1G|NA|NA SCNN1G Bronchiectasis with or without elevated sweat chloride 3 Autosomal dominant 600761 613071 16 same 400kb fragment as SCNN1B SCNN1G|PHA1|BESC3 SCNN1G|NA|NA SCNN1G Pseudohypoaldosteronism, type I Autosomal recessive 600761 264350 16 same 400kb fragment as SCNN1B SCNN1G|PHA1|BESC3 SCNN1G|NA|NA SCNN1G Liddle syndrome Autosomal dominant 600761 177200 16 same 400kb fragment as SCNN1B +SCNN1G|PHA1|BESC3 SCNN1G|NA|NA SCNN1G Bronchiectasis with or without elevated sweat chloride 3 Autosomal dominant 600761 613071 16 same 400kb fragment as SCNN1B SCNN1B|BESC1 SCNN1B|NA SCNN1B Pseudohypoaldosteronism, type I Autosomal recessive 600760 264350 16 NA SCNN1B|BESC1 SCNN1B|NA SCNN1B Liddle syndrome Autosomal dominant 600760 177200 16 NA SCNN1B|BESC1 SCNN1B|NA SCNN1B Bronchiectasis with or without elevated sweat chloride 1 Autosomal dominant 600760 211400 16 NA COG7|CDG2E COG7|NA COG7 Congenital disorder of glycosylation, type IIe None 606978 608779 16 NA EARS2|KIAA1970|COXPD12 EARS2|EARS2|NA EARS2 Combined oxidative phosphorylation deficiency 12 Autosomal recessive 612799 614924 16 NA +PALB2|FANCN|PNCA3 PALB2|PALB2|NA PALB2 Fanconi anemia, complementation group N None 610355 610832 16 NA PALB2|FANCN|PNCA3 PALB2|PALB2|NA PALB2 Pancreatic cancer, susceptibility to, 3 None 610355 613348 16 NA PALB2|FANCN|PNCA3 PALB2|PALB2|NA PALB2 Breast cancer, susceptibility to Autosomal dominant 610355 114480 16 NA -PALB2|FANCN|PNCA3 PALB2|PALB2|NA PALB2 Fanconi anemia, complementation group N None 610355 610832 16 NA MMVP1|MVP|PMV MMVP1|MVP|NA MVP,MMVP1 Mitral valve prolapse, myxomatous 1 Autosomal dominant 157700 157700 16 NA IL4R|IL4RA IL4R|NA IL4R Atopy, susceptibility to Autosomal dominant 147781 147050 16 NA IL4R|IL4RA IL4R|NA IL4R AIDS, slow progression to None 147781 609423 16 NA -IL21R IL21R IL21R IgE, elevated level of Autosomal dominant 605383 147050 16 fusion partner with BCL6 IL21R IL21R IL21R Immunodeficiency, primary, autosomal recessive, IL21R-related Autosomal recessive 605383 615207 16 fusion partner with BCL6 +IL21R IL21R IL21R IgE, elevated level of Autosomal dominant 605383 147050 16 fusion partner with BCL6 KATNIP|KIAA0556 NA|KIAA0556 KIAA0556 ?Joubert syndrome 26 Autosomal recessive 616650 616784 16 mutation identified in 1 JBTS26 family CLN3|BTS CLN3|CLN3 CLN3 Ceroid lipofuscinosis, neuronal, 3 Autosomal recessive 607042 204200 16 NA TUFM|EFTU|COXPD4 TUFM|TUFM|NA TUFM Combined oxidative phosphorylation deficiency 4 None 602389 610678 16 pseudogene on chr.17 ATP2A1|SERCA1 ATP2A1|ATP2A1 ATP2A1 Brody myopathy Autosomal recessive 108730 601003 16 NA CD19|CVID3 CD19|NA CD19 Immunodeficiency, common variable, 3 Autosomal recessive 107265 613493 16 NA KIF22|KNSL4|KID|OBP|SEMDJL2 KIF22|KIF22|NA|OBP2A|NA OBP2A,KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 Autosomal dominant 603213 603546 16 NA -PRRT2|PKC|DYT10|EKD1|BFIS2|BFIC2|ICCA PRRT2|NA|NA|NA|NA|NA|PRRT2 PRRT2 Seizures, benign familial infantile, 2 Autosomal dominant 614386 605751 16 NA PRRT2|PKC|DYT10|EKD1|BFIS2|BFIC2|ICCA PRRT2|NA|NA|NA|NA|NA|PRRT2 PRRT2 Episodic kinesigenic dyskinesia 1 Autosomal dominant 614386 128200 16 NA PRRT2|PKC|DYT10|EKD1|BFIS2|BFIC2|ICCA PRRT2|NA|NA|NA|NA|NA|PRRT2 PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis Autosomal dominant 614386 602066 16 NA +PRRT2|PKC|DYT10|EKD1|BFIS2|BFIC2|ICCA PRRT2|NA|NA|NA|NA|NA|PRRT2 PRRT2 Seizures, benign familial infantile, 2 Autosomal dominant 614386 605751 16 NA ALDOA|GSD12 ALDOA|NA ALDOA Glycogen storage disease XII Autosomal recessive 103850 611881 16 pseudogenes on 3 and 10 TBX6|SCDO5 TBX6|NA TBX6 Spondylocostal dysostosis 5 Autosomal dominant 602427 122600 16 NA CORO1A|TACO|CLIPINA|IMD8 CORO1A|NA|NA|NA CORO1A Immunodeficiency 8 Autosomal recessive 605000 615401 16 NA SRCAP|SWR1|KIAA0309|FLHS SRCAP|SRCAP|SRCAP|NA SRCAP Floating-Harbor syndrome Autosomal dominant 611421 136140 16 NA -PHKG2|GSD9C PHKG2|NA PHKG2 Glycogen storage disease IXc Autosomal recessive 172471 613027 16 NA PHKG2|GSD9C PHKG2|NA PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency None 172471 NA 16 NA +PHKG2|GSD9C PHKG2|NA PHKG2 Glycogen storage disease IXc Autosomal recessive 172471 613027 16 NA HSD3B7|CBAS1 HSD3B7|NA HSD3B7 Bile acid synthesis defect, congenital, 1 Autosomal recessive 607764 607765 16 NA STX1B|GEFSP9 STX1B|NA STX1B Generalized epilepsy with febrile seizures plus, type 9 Autosomal dominant 601485 616172 16 NA -VKORC1|VKOR|VKCFD2|FLJ00289 VKORC1|NA|VKORC1|NA VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2 None 608547 607473 16 NA VKORC1|VKOR|VKCFD2|FLJ00289 VKORC1|NA|VKORC1|NA VKORC1 Warfarin resistance Autosomal dominant 608547 122700 16 NA +VKORC1|VKOR|VKCFD2|FLJ00289 VKORC1|NA|VKORC1|NA VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2 None 608547 607473 16 NA BCKDK|BDK|BCKDKD BCKDK|KNG1|NA KNG1,BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency None 614901 614923 16 NA -FUS|TLS|ALS6|ETM4 FUS|FUS|FUS|NA FUS Tremor, hereditary essential, 4 Autosomal dominant 137070 614782 16 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma FUS|TLS|ALS6|ETM4 FUS|FUS|FUS|NA FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia None 137070 608030 16 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma +FUS|TLS|ALS6|ETM4 FUS|FUS|FUS|NA FUS Tremor, hereditary essential, 4 Autosomal dominant 137070 614782 16 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma ITGAM|CR3A|CD11B|MAC1A|SLEB6 ITGAM|ITGAM|ITGAM|NA|NA ITGAM Systemic lupus erythematous, association with susceptibility to, 6 None 120980 609939 16 ?in same restriction fragment as LFA1A -ARMC5|AIMAH2 ARMC5|NA ARMC5 ACTH-independent macronodular adrenal hyperplasia 2 Autosomal dominant; Somatic mutation 615549 615954 16 NA +ARMC5|AIMAH2 ARMC5|NA ARMC5 ACTH-independent macronodular adrenal hyperplasia 2 Somatic mutation; Autosomal dominant 615549 615954 16 NA SLC5A2|SGLT2 SLC5A2|SLC5A2 SLC5A2 Renal glucosuria Autosomal dominant; Autosomal recessive 182381 233100 16 NA PSORS8 PSORS8 PSORS8 Psoriasis susceptibility 8 None 610707 610707 16 proximal to D16S3034 VPS35|MEM3|PARK17 VPS35|VPS35|VPS35 VPS35 Parkinson disease 17 Autosomal dominant 601501 614203 16 NA ORC6|ORC6L ORC6|ORC6 ORC6 Meier-Gorlin syndrome 3 Autosomal recessive 607213 613803 16 NA -GPT2|ALT2|MRT49 GPT2|GPT2|NA GPT2 ?Mental retardation, autosomal recessive 49 None 138210 616281 16 mutation identified in 1 MRT49 family +GPT2|ALT2|MRT49 GPT2|GPT2|NA GPT2 Mental retardation, autosomal recessive 49 Autosomal recessive 138210 616281 16 NA STHAG2|HYD2 NA|HYD2 HYD2 Tooth agenesis, selective, 2 None 602639 602639 16 NA PHKB PHKB PHKB Phosphorylase kinase deficiency of liver and muscle, autosomal recessive Autosomal recessive 172490 261750 16 NA -ABCC11|MRP8|EWWD|WW ABCC11|ABCC8,ABCC11,S100A8|NA|NA ABCC8,S100A8,ABCC11 Axillary odor, variation in Autosomal dominant 607040 117800 16 NA ABCC11|MRP8|EWWD|WW ABCC11|ABCC8,ABCC11,S100A8|NA|NA ABCC8,S100A8,ABCC11 Earwax, wet/dry Autosomal dominant 607040 117800 16 NA ABCC11|MRP8|EWWD|WW ABCC11|ABCC8,ABCC11,S100A8|NA|NA ABCC8,S100A8,ABCC11 Colostrum secretion, variation in Autosomal dominant 607040 117800 16 NA -ZNF423|ZFP423|OAZ|KIAA0760|NPHP14|JBTS19 ZNF423|NA|OAZ1,ZNF423|ZNF423|ZNF423|ZNF423 ZNF423,OAZ1 Nephronophthisis 14 Autosomal dominant; Autosomal recessive 604557 614844 16 NA +ABCC11|MRP8|EWWD|WW ABCC11|ABCC8,ABCC11,S100A8|NA|NA ABCC8,S100A8,ABCC11 Axillary odor, variation in Autosomal dominant 607040 117800 16 NA ZNF423|ZFP423|OAZ|KIAA0760|NPHP14|JBTS19 ZNF423|NA|OAZ1,ZNF423|ZNF423|ZNF423|ZNF423 ZNF423,OAZ1 Joubert syndrome 19 Autosomal dominant; Autosomal recessive 604557 614844 16 NA +ZNF423|ZFP423|OAZ|KIAA0760|NPHP14|JBTS19 ZNF423|NA|OAZ1,ZNF423|ZNF423|ZNF423|ZNF423 ZNF423,OAZ1 Nephronophthisis 14 Autosomal dominant; Autosomal recessive 604557 614844 16 NA NOD2|CARD15|IBD1|CD|ACUG|PSORAS1 NOD2|NOD2|NOD2|CELIAC2,CTLA4,NOD2|NA|NOD2 CTLA4,CELIAC2,NOD2 Psoriatic arthritis, susceptibility to None 605956 607507 16 NA -NOD2|CARD15|IBD1|CD|ACUG|PSORAS1 NOD2|NOD2|NOD2|CELIAC2,CTLA4,NOD2|NA|NOD2 CTLA4,CELIAC2,NOD2 Inflammatory bowel disease 1 Multifactorial 605956 266600 16 NA +NOD2|CARD15|IBD1|CD|ACUG|PSORAS1 NOD2|NOD2|NOD2|CELIAC2,CTLA4,NOD2|NA|NOD2 CTLA4,CELIAC2,NOD2 Inflammatory bowel disease (Crohn disease) 1 Multifactorial 605956 266600 16 NA NOD2|CARD15|IBD1|CD|ACUG|PSORAS1 NOD2|NOD2|NOD2|CELIAC2,CTLA4,NOD2|NA|NOD2 CTLA4,CELIAC2,NOD2 Sarcoidosis, early-onset None 605956 609464 16 NA NOD2|CARD15|IBD1|CD|ACUG|PSORAS1 NOD2|NOD2|NOD2|CELIAC2,CTLA4,NOD2|NA|NOD2 CTLA4,CELIAC2,NOD2 Blau syndrome Autosomal dominant 605956 186580 16 NA +CYLD|CDMT|EAC|MFT1|KIAA0849|BRSS CYLD|NA|NA|NA|CYLD|NA CYLD Trichoepithelioma, multiple familial, 1 Autosomal dominant 605018 601606 16 behaves as tumor suppressor CYLD|CDMT|EAC|MFT1|KIAA0849|BRSS CYLD|NA|NA|NA|CYLD|NA CYLD Cylindromatosis, familial Autosomal dominant 605018 132700 16 behaves as tumor suppressor CYLD|CDMT|EAC|MFT1|KIAA0849|BRSS CYLD|NA|NA|NA|CYLD|NA CYLD Brooke-Spiegler syndrome Autosomal dominant 605018 605041 16 behaves as tumor suppressor -CYLD|CDMT|EAC|MFT1|KIAA0849|BRSS CYLD|NA|NA|NA|CYLD|NA CYLD Trichoepithelioma, multiple familial, 1 Autosomal dominant 605018 601606 16 behaves as tumor suppressor SALL1|HSAL1|TBS SALL1|NA|SALL1 SALL1 Townes-Brocks syndrome Autosomal dominant 602218 107480 16 NA SALL1|HSAL1|TBS SALL1|NA|SALL1 SALL1 Townes-Brocks branchiootorenal-like syndrome Autosomal dominant 602218 107480 16 NA RPGRIP1L|KIAA1005|JBTS7|MKS5 RPGRIP1L|RPGRIP1L|RPGRIP1L|RPGRIP1L RPGRIP1L Meckel syndrome 5 Autosomal recessive 610937 611561 16 NA -RPGRIP1L|KIAA1005|JBTS7|MKS5 RPGRIP1L|RPGRIP1L|RPGRIP1L|RPGRIP1L RPGRIP1L Joubert syndrome 7 None 610937 611560 16 NA +RPGRIP1L|KIAA1005|JBTS7|MKS5 RPGRIP1L|RPGRIP1L|RPGRIP1L|RPGRIP1L RPGRIP1L Joubert syndrome 7 Autosomal recessive 610937 611560 16 NA RPGRIP1L|KIAA1005|JBTS7|MKS5 RPGRIP1L|RPGRIP1L|RPGRIP1L|RPGRIP1L RPGRIP1L COACH syndrome Autosomal recessive 610937 216360 16 NA FTO|GDFD|BMIQ14 FTO|NA|NA FTO Obesity, susceptibility to, BMIQ14 Autosomal recessive 610966 612460 16 NA FTO|GDFD|BMIQ14 FTO|NA|NA FTO Growth retardation, developmental delay, facial dysmorphism Autosomal recessive 610966 612938 16 NA @@ -4724,19 +4772,21 @@ BBS2|RP74 BBS2|NA BBS2 Retinitis pigmentosa 74 Autosomal recessive 606151 616562 BBS2|RP74 BBS2|NA BBS2 Bardet-Biedl syndrome 2 Autosomal recessive 606151 615981 16 NA NUP93|NIC96|KIAA0095|NPHS12 NUP93|NA|NUP93|NA NUP93 Nephrotic syndrome, type 12 Autosomal recessive 614351 616892 16 NA SLC12A3|NCCT|TSC SLC12A3|SLC12A3|TESC,TSC1 TSC1,SLC12A3,TESC Gitelman syndrome Autosomal recessive 600968 263800 16 NA -CETP|HDLCQ10 CETP|NA CETP High density lipoprotein cholesterol level QTL 10 Autosomal dominant 118470 143470 16 NA CETP|HDLCQ10 CETP|NA CETP Hyperalphalipoproteinemia Autosomal dominant 118470 143470 16 NA +CETP|HDLCQ10 CETP|NA CETP High density lipoprotein cholesterol level QTL 10 Autosomal dominant 118470 143470 16 NA RSPRY1|KIAA1972|SEMDFA RSPRY1|RSPRY1|NA RSPRY1 Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type Autosomal recessive 616585 616723 16 NA ARL2BP|BART ARL2BP|ARL2BP,BSND ARL2BP,BSND Retinitis pigmentosa with or without situs inversus Autosomal recessive 615407 615434 16 NA OPA8 OPA8 OPA8 Optic atroph 8 Autosomal dominant 616648 616648 16 max lod at D16S752 COQ9|C16orf49|COQ10D5 COQ9|COQ9|NA COQ9 Coenzyme Q10 deficiency, primary, 5 Autosomal recessive 612837 614654 16 NA -GPR56|TM7XN1|BFPP|BPPR GPR56|GPR56|NA|NA GPR56 Polymicrogyria, bilateral perisylvian None 604110 615752 16 NA -GPR56|TM7XN1|BFPP|BPPR GPR56|GPR56|NA|NA GPR56 Polymicrogyria, bilateral frontoparietal Autosomal recessive 604110 606854 16 NA +ADGRG1|GPR56|TM7XN1|BFPP|BPPR NA|GPR56|GPR56|NA|NA GPR56 Polymicrogyria, bilateral perisylvian None 604110 615752 16 NA +ADGRG1|GPR56|TM7XN1|BFPP|BPPR NA|GPR56|GPR56|NA|NA GPR56 Polymicrogyria, bilateral frontoparietal Autosomal recessive 604110 606854 16 NA KATNB1|LIS6 KATNB1|NA KATNB1 Lissencephaly 6, with microcephaly Autosomal recessive 602703 616212 16 NA CNGB1|CNCG3L|CNCG2|RP45 CNGB1|CNGB1|CNGB1|CNGB1 CNGB1 Retinitis pigmentosa 45 Autosomal recessive 600724 613767 16 NA C16orf57|PN USB1|POSTN POSTN,USB1 Poikiloderma with neutropenia Autosomal recessive 613276 604173 16 NA BEAN|SCA31 NA|BEAN1,TK2 TK2,BEAN1 Spinocerebellar ataxia 31 Autosomal dominant 612051 117210 16 NA -TK2|MTDPS2 TK2|NA TK2 Mitochondrial DNA depletion syndrome 2 (myopathic type) Autosomal recessive 188250 609560 16 NA +TK2|MTDPS2|PEOB3 TK2|NA|NA TK2 Mitochondrial DNA depletion syndrome 2 (myopathic type) Autosomal recessive 188250 609560 16 mutation identified in 1 PEOB3 family +TK2|MTDPS2|PEOB3 TK2|NA|NA TK2 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Autosomal recessive 188250 617069 16 mutation identified in 1 PEOB3 family +NAIC CIRH1A CIRH1A North American Indian childhood cirrhosis None 604901 604901 16 NA OTSC4 OTSC4 OTSC4 Otosclerosis 4 Autosomal dominant 611571 611571 16 between D16S3107 and D16S3097 SCA4 PLEKHG4 PLEKHG4 Spinocerebellar ataxia 4 Autosomal dominant 600223 600223 16 NA CBFB|PEBP2B CBFB|CBFB CBFB Myeloid leukemia, acute, M4/M4Eo subtype, somatic None 121360 601626 16 inv(16)(p13;q22); fuses to MYH11 @@ -4748,23 +4798,23 @@ AGRP|ART|AGRT AGRP|AGRP|NA AGRP Leanness, inherited None 602311 NA 16 NA CTCF|MRD21 CTCF|NA CTCF Mental retardation, autosomal dominant 21 Autosomal dominant 604167 615502 16 NA ACD|PTOP|PIP1|TINT1 ACD|NA|PAK1IP1|NA PAK1IP1,ACD ?Dyskeratosis congenita, autosomal recessive 7 Autosomal dominant; Autosomal recessive 609377 616553 16 mutation has been identified in 1 DKCA7 and 1 DKCB7 family ACD|PTOP|PIP1|TINT1 ACD|NA|PAK1IP1|NA PAK1IP1,ACD ?Dyskeratosis congenita, autosomal dominant 6 Autosomal dominant; Autosomal recessive 609377 616553 16 mutation has been identified in 1 DKCA7 and 1 DKCB7 family -LCAT LCAT LCAT Norum disease Autosomal recessive 606967 245900 16 very close to HP LCAT LCAT LCAT Fish-eye disease Autosomal recessive 606967 136120 16 very close to HP +LCAT LCAT LCAT Norum disease Autosomal recessive 606967 245900 16 very close to HP CDH3|CDHP|PCAD|HJMD CDH3,CDH15|CDH3|CDH3|NA CDH3,CDH15 Hypotrichosis, congenital, with juvenile macular dystrophy Autosomal recessive 114021 601553 16 in mouse tightly linked to ECAD CDH3|CDHP|PCAD|HJMD CDH3,CDH15|CDH3|CDH3|NA CDH3,CDH15 Ectodermal dysplasia, ectrodactyly, and macular dystrophy Autosomal recessive 114021 225280 16 in mouse tightly linked to ECAD -CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Ovarian carcinoma, somatic None 192090 167000 16 near LCAT CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Gastric cancer, familial diffuse, with or without cleft lip and/or palate Autosomal dominant 192090 137215 16 near LCAT CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Endometrial carcinoma, somatic None 192090 608089 16 near LCAT CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Prostate cancer, susceptibility to Autosomal dominant 192090 176807 16 near LCAT CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Breast cancer, lobular Autosomal dominant 192090 114480 16 near LCAT -CIRH1A|NAIC|TEX292|KIAA1988 CIRH1A|CIRH1A|CIRH1A|CIRH1A CIRH1A Cirrhosis, North American Indian childhood type None 607456 604901 16 NA +CDH1|UVO|LCAM|ECAD CDH1,FZR1|CDH1|NA|NA CDH1,FZR1 Ovarian carcinoma, somatic None 192090 167000 16 near LCAT COG8|DOR1|CDG2H COG8|COG8|NA COG8 Congenital disorder of glycosylation, type IIh None 606979 611182 16 NA -NQO1|DIA4|NMOR1 NQO1|NQO1|NQO1 NQO1 Breast cancer, poor survival after chemotherapy for None 125860 NA 16 NA NQO1|DIA4|NMOR1 NQO1|NQO1|NQO1 NQO1 Benzene toxicity, susceptibility to None 125860 NA 16 NA NQO1|DIA4|NMOR1 NQO1|NQO1|NQO1 NQO1 Leukemia, post-chemotherapy, susceptibility to None 125860 NA 16 NA -AARS|CMT2N|EIEE29 AARS|NA|NA AARS Charcot-Marie-Tooth disease, axonal, type 2N Autosomal dominant 601065 613287 16 NA +NQO1|DIA4|NMOR1 NQO1|NQO1|NQO1 NQO1 Breast cancer, poor survival after chemotherapy for None 125860 NA 16 NA AARS|CMT2N|EIEE29 AARS|NA|NA AARS Epileptic encephalopathy, early infantile, 29 Autosomal recessive 601065 616339 16 NA +AARS|CMT2N|EIEE29 AARS|NA|NA AARS Charcot-Marie-Tooth disease, axonal, type 2N Autosomal dominant 601065 613287 16 NA COG4|COD1|CDG2J COG4|COG4,RPGR|NA RPGR,COG4 Congenital disorder of glycosylation, type IIj Autosomal recessive 606976 613489 16 NA +VAC14|TAX1BP2|TRX|SNDC VAC14|VAC14|TXN|NA TXN,VAC14 Striatonigral degeneration, childhood-onset Autosomal recessive 604632 617054 16 NA HYDIN|HYDIN1|CILD5 HYDIN|NA|HYDIN HYDIN Ciliary dyskinesia, primary, 5 Autosomal recessive 610812 608647 16 duplicated copy on 1q21.1 TAT TAT TAT Tyrosinemia, type II Autosomal recessive 613018 276600 16 NA DHODH|URA1|POADS DHODH|NA|NA DHODH Miller syndrome Autosomal recessive 126064 263750 16 NA @@ -4773,16 +4823,16 @@ HP DLC1,HP HP,DLC1 Anhaptoglobinemia None 140100 614081 16 just distal to fra16q ZFHX3|ATBF1 ZFHX3|ZFHX3 ZFHX3 Prostate cancer, susceptibility to, somatic None 104155 176807 16 NA FA2H|FAAH|FAXDC1|FAH1|SCS7|SPG35 FA2H|FA2H,FAAH|FA2H|NA|NA|FA2H FAAH,FA2H Spastic paraplegia 35, autosomal recessive Autosomal recessive 611026 612319 16 NA CHST6|MCDC1 CHST6|CHST6 CHST6 Macular corneal dystrophy Autosomal recessive 605294 217800 16 NA -TMEM231|JBTS20|MKS11 TMEM231|TMEM231|TMEM231 TMEM231 Meckel syndrome 11 Autosomal recessive 614949 615397 16 NA TMEM231|JBTS20|MKS11 TMEM231|TMEM231|TMEM231 TMEM231 Joubert syndrome 20 Autosomal recessive 614949 614970 16 NA +TMEM231|JBTS20|MKS11 TMEM231|TMEM231|TMEM231 TMEM231 Meckel syndrome 11 Autosomal recessive 614949 615397 16 NA KARS|CMTRIB|DFNB89 KARS|NA|KARS KARS Deafness, autosomal recessive 89 Autosomal recessive 601421 613916 16 mutation identified in 1 CMTRIB patient KARS|CMTRIB|DFNB89 KARS|NA|KARS KARS ?Charcot-Marie-Tooth disease, recessive intermediate, B Autosomal recessive 601421 613641 16 mutation identified in 1 CMTRIB patient ADAMTS18|MMCAT ADAMTS18|NA ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus Autosomal recessive 607512 615458 16 NA WWOX|FOR|SCAR12|EIEE28 WWOX|WWOX|NA|NA WWOX Spinocrebellar ataxia, autosomal recessive 12 Autosomal recessive 605131 614322 16 NA WWOX|FOR|SCAR12|EIEE28 WWOX|WWOX|NA|NA WWOX Esophageal squamous cell carcinoma, somatic None 605131 133239 16 NA WWOX|FOR|SCAR12|EIEE28 WWOX|WWOX|NA|NA WWOX Epileptic encephalopathy, early infantile, 28 Autosomal recessive 605131 616211 16 NA -MAF|CCA4|CTRCT21|AYGRP MAF|NA|NA|NA MAF Ayme-Gripp syndrome Autosomal dominant 177075 601088 16 NA MAF|CCA4|CTRCT21|AYGRP MAF|NA|NA|NA MAF Cataract 21, multiple types Autosomal dominant 177075 610202 16 NA +MAF|CCA4|CTRCT21|AYGRP MAF|NA|NA|NA MAF Ayme-Gripp syndrome Autosomal dominant 177075 601088 16 NA GCSH|NKH GCSH|AMT,GLDC GLDC,AMT,GCSH Glycine encephalopathy Autosomal recessive 238330 605899 16 NA BCMO1|BCDO|BCO1 BCO1|BCO1|BCO1 BCO1 Hypercarotenemia and vitamin A deficiency, autosomal dominant Autosomal dominant 605748 115300 16 NA GAN|GAN1 GAN|GAN GAN Giant axonal neuropathy-1 Autosomal recessive 605379 256850 16 NA @@ -4794,16 +4844,16 @@ LRRC50|ODA7|CILD13 DNAAF1|DNAAF1|DNAAF1 DNAAF1 Ciliary dyskinesia, primary, 13 A IRF8|ICSBP1|IMD32A|IMD32B IRF8|IRF8|NA|NA IRF8 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive Autosomal recessive 601565 614894 16 NA IRF8|ICSBP1|IMD32A|IMD32B IRF8|IRF8|NA|NA IRF8 Immunodeficiency 32A, mycobacteriosis, autosomal dominant Autosomal dominant 601565 614893 16 NA FOXF1|FKHL5|ACDMPV FOXF1|FOXF1|NA FOXF1 Alveolar capillary dysplasia with misalignment of pulmonary veins Autosomal dominant 601089 265380 16 NA -FOXC2|FKHL14|MFH1 FOXC2|FOXC2|NA FOXC2 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Autosomal dominant 602402 153400 16 NA FOXC2|FKHL14|MFH1 FOXC2|FOXC2|NA FOXC2 Lymphedema-distichiasis syndrome Autosomal dominant 602402 153400 16 NA +FOXC2|FKHL14|MFH1 FOXC2|FOXC2|NA FOXC2 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Autosomal dominant 602402 153400 16 NA FBXO31|FBX31|FBXO14|FBX14|MRT45 FBXO31|NA|FBXO31|FBXO31|NA FBXO31 ?Mental retardation, autosomal recessive 45 Autosomal recessive 609102 615979 16 mutation identified in 1 MRT45 family JPH3|JP3|HDL2 JPH3|JPH3|JPH3 JPH3 Huntington disease-like 2 Autosomal dominant 605268 606438 16 NA CA5A|CA5AD CA5A|NA CA5A Hyperammonemia due to carbonic anhydrase VA deficiency Autosomal recessive 114761 615751 16 pseudogene on 16p ZNF469|KIAA1858|BCS1 ZNF469|ZNF469|NA ZNF469 Brittle cornea syndrome 1 Autosomal recessive 612078 229200 16 NA CYBA CYBA CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA Autosomal recessive 608508 233690 16 NA MVD|MPD|POROK7 MVD|MVD|NA MVD Porokeratosis 7, multiple types Autosomal dominant 603236 614714 16 NA -PIEZO1|FAM38A|MIB|DHS|LMPH3 PIEZO1|PIEZO1|MIB1|NA|NA PIEZO1,MIB1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Autosomal dominant 611184 194380 16 NA PIEZO1|FAM38A|MIB|DHS|LMPH3 PIEZO1|PIEZO1|MIB1|NA|NA PIEZO1,MIB1 Lymphedema, hereditary, III Autosomal recessive 611184 616843 16 NA +PIEZO1|FAM38A|MIB|DHS|LMPH3 PIEZO1|PIEZO1|MIB1|NA|NA PIEZO1,MIB1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Autosomal dominant 611184 194380 16 NA CDT1 CDT1 CDT1 Meier-Gorlin syndrome 4 Autosomal recessive 605525 613804 16 NA APRT|APRTD APRT|NA APRT Adenine phosphoribosyltransferase deficiency Autosomal recessive 102600 614723 16 telomeric to GALNS, transcribed in same cen-tel direction GALNS|MPS4A GALNS|NA GALNS Mucopolysaccharidosis IVA Autosomal recessive 612222 253000 16 centromeric to APRT @@ -4813,68 +4863,70 @@ ANKRD11|ANCO1|KBGS ANKRD11|NA|NA ANKRD11 KBG syndrome Autosomal dominant 611192 PGN|SPG7|CMAR|CAR NA|SPG7|SPG7|CXADR,NR1I3,SPG7,CXADRP1 NR1I3,CXADR,CXADRP1,SPG7 Spastic paraplegia 7, autosomal recessive Autosomal dominant; Autosomal recessive 602783 607259 16 NA CHMP1A|PCOLN3|PRSM1|PCH8 CHMP1A|CHMP1A|CHMP1A|NA CHMP1A Pontocerebellar hypoplasia, type 8 Autosomal recessive 164010 614961 16 NA FANCA|FACA|FA1|FA|FAA FANCA|FANCA|DLK1|FXN|FANCA FXN,DLK1,FANCA Fanconi anemia, complementation group A Autosomal recessive 607139 227650 16 linkage heterogeneity +MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Albinism, oculocutaneous, type II, modifier of Autosomal recessive 155555 203200 16 NA +MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Skin/hair/eye pigmentation 2, red hair/fair skin Autosomal recessive 155555 266300 16 NA MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Skin/hair/eye pigmentation 2, blond hair/fair skin Autosomal recessive 155555 266300 16 NA MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Analgesia from kappa-opioid receptor agonist, female-specific None 155555 613098 16 NA MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R UV-induced skin damage Autosomal recessive 155555 266300 16 NA MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Melanoma, cutaneous malignant, 5 None 155555 613099 16 NA -MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Albinism, oculocutaneous, type II, modifier of Autosomal recessive 155555 203200 16 NA -MC1R|SHEP2|CMM5 MC1R|NA|NA MC1R Skin/hair/eye pigmentation 2, red hair/fair skin Autosomal recessive 155555 266300 16 NA TUBB3|TUBB4|CFEOM3A|CDCBM1 TUBB3|TUBB4A|TUBB3|NA TUBB4A,TUBB3 Fibrosis of extraocular muscles, congenital, 3A Autosomal dominant 602661 600638 16 NA TUBB3|TUBB4|CFEOM3A|CDCBM1 TUBB3|TUBB4A|TUBB3|NA TUBB4A,TUBB3 Cortical dysplasia, complex, with other brain malformations 1 Autosomal dominant 602661 614039 16 NA GAS8|GAS11|CILD33 GAS8|GAS8|NA GAS8 Ciliary dyskinesia, primary, 33 Autosomal recessive 605178 616726 16 NA CTRCT24|CTAA2 NA|CTAA2 CTAA2 Cataract 24, anterior polar Autosomal dominant 601202 601202 17 NA MDLS|MDS|MDCR|DEL17p13.3|C17DELp13.3 NA|PAFAH1B1|PAFAH1B1|NA|NA PAFAH1B1 Miller-Dieker lissencephaly syndrome Autosomal dominant 247200 247200 17 NA VPS53|HCCS1|PCH2E VPS53|VPS53|NA VPS53 Pontocerebellar hypoplasia, type 2E Autosomal recessive 615850 615851 17 NA -BHLHA9|BHLHF42|MSSD BHLHA9|BHLHA9|NA BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction Autosomal recessive 615416 609432 17 NA +BHLHA9|BHLHF42|MSSD|CCSPD BHLHA9|BHLHA9|NA|NA BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction Autosomal recessive 615416 609432 17 mutation identified in 1 CCSPD family +BHLHA9|BHLHF42|MSSD|CCSPD BHLHA9|BHLHA9|NA|NA BHLHA9 ?Camptosynpolydactyly, complex Autosomal recessive 615416 607539 17 mutation identified in 1 CCSPD family PRPF8|PRPC8|RP13 PRPF8|PRPF8|PRPF8 PRPF8 Retinitis pigmentosa 13 Autosomal dominant 607300 600059 17 NA WDR81|CAMRQ2 WDR81|NA WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Autosomal recessive 614218 610185 17 NA PLI|SERPINF2 SERPINF2|SERPINF2 SERPINF2 Alpha-2-plasmin inhibitor deficiency Autosomal recessive 613168 262850 17 NA SERPINF1|PEDF|OI6 SERPINF1|SERPINF1|NA SERPINF1 Osteogenesis imperfecta, type VI None 172860 613982 17 same region as RP13 DPH1|DPH2L1|OVCA1|DEDSSH DPH1|DPH1|DPH1|NA DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair Autosomal recessive 603527 616901 17 NA -PAFAH1B1|LIS1 PAFAH1B1|PAFAH1B1 PAFAH1B1 Subcortical laminar heterotopia Isolated cases 601545 607432 17 NA PAFAH1B1|LIS1 PAFAH1B1|PAFAH1B1 PAFAH1B1 Lissencephaly 1 Isolated cases 601545 607432 17 NA +PAFAH1B1|LIS1 PAFAH1B1|PAFAH1B1 PAFAH1B1 Subcortical laminar heterotopia Isolated cases 601545 607432 17 NA ASPA ASPA ASPA Canavan disease Autosomal recessive 608034 271900 17 NA TRPV3|OLMS|FNEPPK2 TRPV3|NA|NA TRPV3 Olmsted syndrome Autosomal dominant 607066 614594 17 mutation identified in 1 FNEPPK2 family TRPV3|OLMS|FNEPPK2 TRPV3|NA|NA TRPV3 ?Palmoplantar keratoderma, nonepidermolytic, focal 2 Autosomal dominant 607066 616400 17 mutation identified in 1 FNEPPK2 family -CTNS CTNS CTNS Cystinosis, late-onset juvenile or adolescent nephropathic Autosomal recessive 606272 219900 17 ?3 allelic forms -CTNS CTNS CTNS Cystinosis, atypical nephropathic Autosomal recessive 606272 219800 17 ?3 allelic forms CTNS CTNS CTNS Cystinosis, ocular nonnephropathic Autosomal recessive 606272 219750 17 ?3 allelic forms CTNS CTNS CTNS Cystinosis, nephropathic Autosomal recessive 606272 219800 17 ?3 allelic forms +CTNS CTNS CTNS Cystinosis, late-onset juvenile or adolescent nephropathic Autosomal recessive 606272 219900 17 ?3 allelic forms +CTNS CTNS CTNS Cystinosis, atypical nephropathic Autosomal recessive 606272 219800 17 ?3 allelic forms P2RX1|P2X1 P2RX1|P2RX1 P2RX1 Bleeding disorder due to P2RX1 defect, somatic None 600845 609821 17 NA ZMYND15|SPGF14 ZMYND15|NA ZMYND15 ?Spermatogenic failure 14 Autosomal recessive 614312 615842 17 mutation identified in 1 SPGF14 family -CHRNE|SCCMS|CMS4A|CMS4B|CMS4C CHRNE|NA|NA|NA|NA CHRNE Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency Autosomal recessive 100725 608931 17 NA CHRNE|SCCMS|CMS4A|CMS4B|CMS4C CHRNE|NA|NA|NA|NA CHRNE Myasthenic syndrome, congenital, 4B, fast-channel Autosomal recessive 100725 616324 17 NA CHRNE|SCCMS|CMS4A|CMS4B|CMS4C CHRNE|NA|NA|NA|NA CHRNE Myasthenic syndrome, congenital, 4A, slow-channel Autosomal dominant; Autosomal recessive 100725 605809 17 NA -GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA Bernard-Soulier syndrome, type A1 (recessive) Autosomal recessive 606672 231200 17 NA -GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA Nonarteritic anterior ischemic optic neuropathy, susceptibility to Autosomal recessive 606672 258660 17 NA +CHRNE|SCCMS|CMS4A|CMS4B|CMS4C CHRNE|NA|NA|NA|NA CHRNE Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency Autosomal recessive 100725 608931 17 NA GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA von Willebrand disease, platelet-type Autosomal dominant 606672 177820 17 NA GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA Bernard-Soulier syndrome, type A2 (dominant) Autosomal dominant 606672 153670 17 NA +GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA Bernard-Soulier syndrome, type A1 (recessive) Autosomal recessive 606672 231200 17 NA +GP1BA|BSS|BDPLT1|VWDP|BDPLT3 GP1BA|NA|NA|NA|NA GP1BA Nonarteritic anterior ischemic optic neuropathy, susceptibility to Autosomal recessive 606672 258660 17 NA PFN1|ALS18 PFN1|NA PFN1 Amyotrophic lateral sclerosis 18 None 176610 614808 17 NA ENO3|GSD13 ENO3|NA ENO3 ?Glycogen storage disease XIII Autosomal recessive 131370 612932 17 mutation identified in 1 GSD13 patient KIF1C|LTXS1|KIAA0706|SPAX2 KIF1C|NA|NA|KIF1C KIF1C Spastic ataxia 2, autosomal recessive Autosomal recessive 603060 611302 17 NA SLC52A1|GPR172B|GPCR42|PAR2|FLJ10060|RBFVD SLC52A1|SLC52A1|SLC52A1|F2RL1,NR1I2,SLC52A1|SLC52A1|NA SLC52A1,NR1I2,F2RL1 Riboflavin deficiency Autosomal dominant 607883 615026 17 NA NLRP1|NALP1|KIAA0926|DEFCAP|CARD7|SLEV1|VAMAS1|CIDED NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NA NLRP1 Vitiligo-associated multiple autoimmune disease susceptibility 1 None 606636 606579 17 1 CIDED family identified with mutation NLRP1|NALP1|KIAA0926|DEFCAP|CARD7|SLEV1|VAMAS1|CIDED NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NLRP1|NA NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia Autosomal dominant 606636 615225 17 1 CIDED family identified with mutation -AIPL1|LCA4 AIPL1|AIPL1 AIPL1 Cone-rod dystrophy Autosomal recessive 604392 604393 17 LCA1 due to GUCY2D mutation also on 17p13.1 AIPL1|LCA4 AIPL1|AIPL1 AIPL1 Retinitis pigmentosa, juvenile Autosomal recessive 604392 604393 17 LCA1 due to GUCY2D mutation also on 17p13.1 AIPL1|LCA4 AIPL1|AIPL1 AIPL1 Leber congenital amaurosis 4 Autosomal recessive 604392 604393 17 LCA1 due to GUCY2D mutation also on 17p13.1 +AIPL1|LCA4 AIPL1|AIPL1 AIPL1 Cone-rod dystrophy Autosomal recessive 604392 604393 17 LCA1 due to GUCY2D mutation also on 17p13.1 PITPNM3|NIR1|CORD5 PITPNM3|PITPNM3|PITPNM3 PITPNM3 Cone-rod dystrophy 5 Autosomal dominant 608921 600977 17 NA +KIAA0753|OFIP|OFD15 KIAA0753|NA|NA KIAA0753 ?Orofaciodigital syndrome XV Autosomal recessive 617112 617127 17 mutation identified in 1 OFD15 patient SLC13A5|NACT|EIEE25 SLC13A5|SLC13A5|NA SLC13A5 Epileptic encephalopathy, early infantile, 25 Autosomal recessive 608305 615905 17 NA ACADVL|VLCAD ACADVL|ACADVL ACADVL VLCAD deficiency Autosomal recessive 609575 201475 17 NA CHRNB1|ACHRB|SCCMS|CMS2A|CMS2C CHRNB1|NA|NA|NA|NA CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel Autosomal dominant 100710 616313 17 mutation identified in 1 CMS2C family CHRNB1|ACHRB|SCCMS|CMS2A|CMS2C CHRNB1|NA|NA|NA|NA CHRNB1 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency Autosomal recessive 100710 616314 17 mutation identified in 1 CMS2C family MPDU1|SL15|CDGIF MPDU1|MPDU1|NA MPDU1 Congenital disorder of glycosylation, type If Autosomal recessive 604041 609180 17 NA +TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Basal cell carcinoma 7 None 191170 614740 17 NA +TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Colorectal cancer Autosomal dominant 191170 114500 17 NA +TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Pancreatic cancer Somatic mutation; Autosomal dominant; Multifactorial 191170 260350 17 NA +TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Choroid plexus papilloma Autosomal dominant 191170 260500 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Osteosarcoma Autosomal recessive 191170 259500 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Breast cancer Autosomal dominant 191170 114480 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Nasopharyngeal carcinoma None 191170 607107 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Adrenal cortical carcinoma Autosomal recessive 191170 202300 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Li-Fraumeni syndrome Autosomal dominant 191170 151623 17 NA -TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Glioma susceptibility 1 Autosomal dominant; Somatic mutation 191170 137800 17 NA +TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Glioma susceptibility 1 Somatic mutation; Autosomal dominant 191170 137800 17 NA TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Hepatocellular carcinoma Somatic mutation 191170 114550 17 NA -TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Basal cell carcinoma 7 None 191170 614740 17 NA -TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Colorectal cancer Autosomal dominant 191170 114500 17 NA -TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Pancreatic cancer Autosomal dominant; Somatic mutation; Multifactorial 191170 260350 17 NA -TP53|P53|LFS1|BCC7 TP53|NA|TP53|NA TP53 Choroid plexus papilloma Autosomal dominant 191170 260500 17 NA WRAP53|TCAB1|WDR79|DKCB3 WRAP53|WRAP53|WRAP53|NA WRAP53 Dyskeratosis congenita, autosomal recessive 3 Autosomal recessive 612661 613988 17 NA GUCY2D|GUC2D|LCA1|CORD6|RCD2 GUCY2D|GUCY2D|GUCY2D|GUCY2D|NA GUCY2D Leber congenital amaurosis 1 Autosomal recessive 600179 204000 17 LCA4 due to Aipl1 mutation also on 17p13.1 GUCY2D|GUC2D|LCA1|CORD6|RCD2 GUCY2D|GUCY2D|GUCY2D|GUCY2D|NA GUCY2D Cone-rod dystrophy 6 Autosomal dominant 600179 601777 17 LCA4 due to Aipl1 mutation also on 17p13.1 @@ -4884,8 +4936,8 @@ HES7|SCDO4 HES7|NA HES7 Spondylocostal dysostosis 4, autosomal recessive Autosom CTC1|CRMCC|C17orf68|AAF132 CTC1|NA|CTC1|CTC1 CTC1 Cerebroretinal microangiopathy with calcifications and cysts Autosomal recessive 613129 612199 17 NA RPL26|DBA11 RPL26|NA RPL26 ?Diamond-Blackfan anemia 11 Autosomal dominant 603704 614900 17 mutation identified in 1 family PIK3R5|p101 PIK3R5|PIK3R5 PIK3R5 Ataxia-oculomotor apraxia 3 Autosomal recessive 611317 615217 17 NA -MYH8|DA7 MYH8|NA MYH8 Trismus-pseudocamptodactyly syndrome Autosomal dominant 160741 158300 17 NA MYH8|DA7 MYH8|NA MYH8 Carney complex variant None 160741 608837 17 NA +MYH8|DA7 MYH8|NA MYH8 Trismus-pseudocamptodactyly syndrome Autosomal dominant 160741 158300 17 NA MYH2|MYPOP MYH2|MYPOP MYH2,MYPOP Proximal myopathy and ophthalmoplegia Autosomal dominant; Autosomal recessive 160740 605637 17 NA MYH3|DA2A|DA2B|DA8 MYH3|NA|TNNI2,TNNT3|NA MYH3,TNNT3,TNNI2 Arthrogryposis, distal, type 8 Autosomal dominant 160720 178110 17 NA MYH3|DA2A|DA2B|DA8 MYH3|NA|TNNI2,TNNT3|NA MYH3,TNNT3,TNNI2 Arthrogryposis, distal, type 2B Autosomal dominant 160720 601680 17 NA @@ -4896,33 +4948,34 @@ ELAC2|HPC2|COXPD17 ELAC2|PCAP,ELAC2|NA PCAP,ELAC2 Prostate cancer, hereditary, 2 ELAC2|HPC2|COXPD17 ELAC2|PCAP,ELAC2|NA PCAP,ELAC2 Combined oxidative phosphorylation deficiency 17 Autosomal recessive 605367 615440 17 at ~365cR COX10 COX10 COX10 Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 602125 220110 17 NA COX10 COX10 COX10 Leigh syndrome due to mitochondrial COX4 deficiency Mitochondrial; Autosomal recessive 602125 256000 17 NA -PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Neuropathy, recurrent, with pressure palsies Autosomal dominant 601097 162500 17 NA -PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Neuropathy, inflammatory demyelinating ?Autosomal dominant 601097 139393 17 NA -PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Dejerine-Sottas disease Autosomal dominant; Autosomal recessive 601097 145900 17 NA PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Charcot-Marie-Tooth disease, type 1E Autosomal dominant 601097 118300 17 NA PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Charcot-Marie-Tooth disease, type 1A Autosomal dominant 601097 118220 17 NA PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Roussy-Levy syndrome Autosomal dominant 601097 180800 17 NA +PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Neuropathy, recurrent, with pressure palsies Autosomal dominant 601097 162500 17 NA +PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Neuropathy, inflammatory demyelinating ?Autosomal dominant 601097 139393 17 NA +PMP22|CMT1A|CMT1E|DSS PMP22,PXMP2|CMT1A|NA|NR0B1 PMP22,NR0B1,PXMP2,CMT1A Dejerine-Sottas disease Autosomal dominant; Autosomal recessive 601097 145900 17 NA TTC19|MC3DN2 TTC19|NA TTC19 Mitochondrial complex III deficiency, nuclear type 2 Autosomal recessive 613814 615157 17 NA IS2|AIS2 NA|AIS2 AIS2 Scoliosis, idiopathic 2 None 607354 607354 17 between D17S947 and D17S798 PIGL|CHIME PIGL|NA PIGL CHIME syndrome Autosomal recessive 605947 280000 17 NA UBB UBB UBB Cleft palate, isolated Autosomal dominant 191339 119540 17 NA TNFRSF13B|TACI|CVID2 TNFRSF13B|TNFRSF13B|NA TNFRSF13B Immunoglobulin A deficiency 2 None 604907 609529 17 NA TNFRSF13B|TACI|CVID2 TNFRSF13B|TNFRSF13B|NA TNFRSF13B Immunodeficiency, common variable, 2 Autosomal dominant; Autosomal recessive 604907 240500 17 NA -FLCN|BHD FLCN|FLCN FLCN Colorectal cancer, somatic None 607273 114500 17 NA -FLCN|BHD FLCN|FLCN FLCN Birt-Hogg-Dube syndrome Autosomal dominant 607273 135150 17 NA FLCN|BHD FLCN|FLCN FLCN Renal carcinoma, chromophobe, somatic None 607273 144700 17 NA FLCN|BHD FLCN|FLCN FLCN Pneumothorax, primary spontaneous Autosomal dominant 607273 173600 17 NA +FLCN|BHD FLCN|FLCN FLCN Colorectal cancer, somatic None 607273 114500 17 NA +FLCN|BHD FLCN|FLCN FLCN Birt-Hogg-Dube syndrome Autosomal dominant 607273 135150 17 NA RAI1|SMCR|SMS RAI1|RAI1|RAI1,SMS RAI1,SMS Smith-Magenis syndrome Autosomal dominant; Isolated cases 607642 182290 17 NA ATPAF2|ATP12|MC5DN1 ATPAF2|ATPAF2|NA ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Autosomal recessive 608918 604273 17 NA MYO15A|DFNB3 MYO15A|MYO15A MYO15A Deafness, autosomal recessive 3 Autosomal recessive 602666 600316 17 NA -B9D1|MKSR1|MKS9 B9D1|NA|B9D1 B9D1 ?Meckel syndrome 9 Autosomal recessive 614144 614209 17 mutation identified in 1 MKS9 patient +B9D1|MKSR1|MKS9|JBTS27 B9D1|NA|B9D1|NA B9D1 Joubert syndrome 27 None 614144 617120 17 mutation identified in 1 MKS9 patient +B9D1|MKSR1|MKS9|JBTS27 B9D1|NA|B9D1|NA B9D1 ?Meckel syndrome 9 Autosomal recessive 614144 614209 17 mutation identified in 1 MKS9 patient ALDH3A2|ALDH10|SLS|FALDH ALDH3A2|ALDH3A2|ALDH3A2|ALDH3A2 ALDH3A2 Sjogren-Larsson syndrome Autosomal recessive 609523 270200 17 NA AKAP10 AKAP10 AKAP10 Cardiac conduction defect, susceptibility to Autosomal dominant 604694 115080 17 NA KCNJ18|KIR2.6|TTPP2 KCNJ18|KCNJ18|KCNJ18 KCNJ18 Thyrotoxic periodic paralysis, susceptibility to, 2 Isolated cases 613236 613239 17 NA CCL3L1|SCYA3L1|LD78 CCL3L1|CCL3L1|NA CCL3L1 HIV/AIDS, susceptibility to None 601395 609423 17 varies in copy number 1-10 MHS2 MHS2 MHS2 Malignant hyperthermia susceptibility 2 Autosomal dominant 154275 154275 17 ?due to mutation in SCN4A -NOS2A|NOS2 NOS2|NANOS2,NOS2 NOS2,NANOS2 Malaria, resistance to None 163730 611162 17 ?cluster of 3 NOS2 genes NOS2A|NOS2 NOS2|NANOS2,NOS2 NOS2,NANOS2 Hypertension, susceptibility to Multifactorial 163730 145500 17 ?cluster of 3 NOS2 genes +NOS2A|NOS2 NOS2|NANOS2,NOS2 NOS2,NANOS2 Malaria, resistance to None 163730 611162 17 ?cluster of 3 NOS2 genes TMEM199|VMA12|VPH2|C17orf32|CDG2P TMEM199|NA|NA|TMEM199|NA TMEM199 Congenital disorder of glycosylation, type IIp Autosomal recessive 616815 616829 17 NA SLC46A1|HCP1|PCFT SLC46A1|PDE7A,PRMT1,SLC46A1,CYCSP51|SLC46A1 PDE7A,CYCSP51,PRMT1,SLC46A1 Folate malabsorption, hereditary Autosomal recessive 611672 229050 17 NA FOXN1|WHN FOXN1|FOXN1 FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Autosomal recessive 600838 601705 17 NA @@ -4933,21 +4986,20 @@ NEK8|JCK|NPHP9|RHPD2 NEK8|NA|NEK8|NA NEK8 ?Nephronophthisis 9 None 609799 613824 CRYBA1|CRYB1|CTRCT10 CRYBA1|CRYBA1|NA CRYBA1 Cataract 10, multiple types Autosomal dominant 123610 600881 17 centromeric to NF1 SLC6A4|HTT|OCD1 SLC6A4|HTT,SLC6A4|SLC6A4 HTT,SLC6A4 Obsessive-compulsive disorder Autosomal dominant 182138 164230 17 NA SLC6A4|HTT|OCD1 SLC6A4|HTT,SLC6A4|SLC6A4 HTT,SLC6A4 Anxiety-related personality traits None 182138 607834 17 NA -BLMH|BMH BLMH|NA BLMH Alzheimer disease, susceptibility to Autosomal dominant 602403 104300 17 NA RNF135|MMFD RNF135|NA RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome None 611358 614192 17 NA NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Neurofibromatosis-Noonan syndrome Autosomal dominant 613113 601321 17 NA NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Neurofibromatosis, type 1 Autosomal dominant 613113 162200 17 NA NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Neurofibromatosis, familial spinal Autosomal dominant 613113 162210 17 NA -NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Leukemia, juvenile myelomonocytic Autosomal dominant; Somatic mutation 613113 607785 17 NA +NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Leukemia, juvenile myelomonocytic Somatic mutation; Autosomal dominant 613113 607785 17 NA NF1|VRNF|WSS|NFNS NF1|NA|NA|NA NF1 Watson syndrome Autosomal dominant 613113 193520 17 NA TMEM98|NNO4 TMEM98|NA TMEM98 Nanophthalmos 4 Autosomal dominant 615949 615972 17 NA +CCL2|SCYA2|MCP1|MCAF CCL2|CCL2|CCL2|CCL2 CCL2 Coronary artery disease, modifier of None 158105 NA 17 NA CCL2|SCYA2|MCP1|MCAF CCL2|CCL2|CCL2|CCL2 CCL2 Spina bifida, susceptibility to Autosomal dominant 158105 182940 17 NA CCL2|SCYA2|MCP1|MCAF CCL2|CCL2|CCL2|CCL2 CCL2 Mycobacterium tuberculosis, susceptibility to None 158105 607948 17 NA CCL2|SCYA2|MCP1|MCAF CCL2|CCL2|CCL2|CCL2 CCL2 HIV-1, resistance to None 158105 609423 17 NA -CCL2|SCYA2|MCP1|MCAF CCL2|CCL2|CCL2|CCL2 CCL2 Coronary artery disease, modifier of None 158105 NA 17 NA -CCL11|SCYA11 CCL11|CCL11 CCL11 HIV1, resistance to None 601156 609423 17 NA CCL11|SCYA11 CCL11|CCL11 CCL11 Asthma, susceptibility to Autosomal dominant 601156 600807 17 NA -RAD51L3|RAD51D|BROVCA4 RAD51D|RAD51D|NA RAD51D Breast-ovarian cancer, familial, susceptibility to, 4 None 602954 614291 17 NA +CCL11|SCYA11 CCL11|CCL11 CCL11 HIV1, resistance to None 601156 609423 17 NA +RAD51D|RAD51L3|BROVCA4 RAD51D|RAD51D|NA RAD51D Breast-ovarian cancer, familial, susceptibility to, 4 None 602954 614291 17 NA UNC45B|SMUNC45|CTRCT43 UNC45B|NA|NA UNC45B ?Cataract 43 Autosomal dominant 611220 616279 17 mutation identified in 1 CTRCT43 family SLFN14|BDPLT20 SLFN14|NA SLFN14 Bleeding disorder, platelet-type, 20 Autosomal dominant 614958 616913 17 NA PEX12|PBD3A PEX12|NA PEX12 Peroxisome biogenesis disorder 3B Autosomal recessive 601758 266510 17 NA @@ -4958,9 +5010,9 @@ CCL5|SCYA5|D17S136E|TCP228 CCL5|CCL5|CCL5|CCL5 CCL5 HIV-1 disease, delayed progr CCL3|SCYA3|MIP1A CCL3|CCL3|NA CCL3 HIV infection, resistance to None 182283 609423 17 in 47kb, CCL18-CCL3-CCL4 PIGW|HPMRS5 PIGW|NA PIGW ?Hyperphosphatasia with mental retardation syndrome 5 Autosomal recessive 610275 616025 17 mutation identified in 1 HPMRS5 patient ACACA|ACAC|ACC1|ACACAD ACACA|ACACA|ACACA|NA ACACA Acetyl-CoA carboxylase deficiency Autosomal recessive 200350 613933 17 proximal to q21.33; others put at 17q12 -HNF1B|TCF2|HNF2|MODY5|FJHN|HPC11 HNF1B|HNF1B|NA|HNF1B|NA|NA HNF1B Renal cell carcinoma None 189907 144700 17 NA HNF1B|TCF2|HNF2|MODY5|FJHN|HPC11 HNF1B|HNF1B|NA|HNF1B|NA|NA HNF1B Renal cysts and diabetes syndrome Autosomal dominant 189907 137920 17 NA HNF1B|TCF2|HNF2|MODY5|FJHN|HPC11 HNF1B|HNF1B|NA|HNF1B|NA|NA HNF1B Diabetes mellitus, noninsulin-dependent Autosomal dominant 189907 125853 17 NA +HNF1B|TCF2|HNF2|MODY5|FJHN|HPC11 HNF1B|HNF1B|NA|HNF1B|NA|NA HNF1B Renal cell carcinoma None 189907 144700 17 NA GPR179|GPR158L|GPR158L1|CSNB1E GPR179|NA|GPR179|GPR179 GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive Autosomal recessive 614515 614565 17 NA TCAP|LGMD2G|CMH25 TCAP|TCAP|NA TCAP Muscular dystrophy, limb-girdle, type 2G Autosomal recessive 604488 601954 17 NA TCAP|LGMD2G|CMH25 TCAP|TCAP|NA TCAP Cardiomyopathy, hypertrophic, 25 Autosomal dominant 604488 607487 17 NA @@ -4972,11 +5024,11 @@ ERBB2|NGL|NEU|HER2 ERBB2|ERBB2|ERBB2,NEU1|ERBB2 ERBB2,NEU1 Adenocarcinoma of lun MYP5 MYP5 MYP5 Myopia 5 Autosomal dominant 608474 608474 17 between D17S787 and D17S1811 PTLAH|FPAH PTLAH|PTLAH PTLAH Patella aplasia or hypoplasia Autosomal dominant 168860 168860 17 NA THRA|ERBA1|THRA1|CHNG6 THRA|THRA|NR1D1,THRA|NA NR1D1,THRA Hypothyroidism, congenital, nongoitrous, 6 Autosomal dominant 190120 614450 17 NA -CDC6|CDC18L CDC6|CDC6 CDC6 Meier-Gorlin syndrome 5 Autosomal recessive 602627 613805 17 NA +CDC6|CDC18L|MGORS5 CDC6|CDC6|NA CDC6 ?Meier-Gorlin syndrome 5 Autosomal recessive 602627 613805 17 mutation identified in 1 MGORS5 patient RARA RARA RARA Leukemia, acute promyelocytic None 180240 612376 17 fused with MYL in APL TOP2A|TOP2 TOP2A|TOP2A TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine None 126430 NA 17 NA -SMARCE1|BAF57|CSS5 SMARCE1|SMARCE1|NA SMARCE1 Meningioma, familial, susceptibility to Autosomal dominant 603111 607174 17 NA SMARCE1|BAF57|CSS5 SMARCE1|SMARCE1|NA SMARCE1 Coffin-Siris syndrome 5 Autosomal dominant 603111 616938 17 NA +SMARCE1|BAF57|CSS5 SMARCE1|SMARCE1|NA SMARCE1 Meningioma, familial, susceptibility to Autosomal dominant 603111 607174 17 NA KRT25|K25|KRT24IRS1|ARWH3 KRT25|NA|NA|NA KRT25 Woolly hair, autosomal recessive 3 Autosomal recessive 616646 616760 17 NA KRT10|EHK|BCIE|BIE KRT10|NA|NA|NA KRT10 Ichthyosis with confetti Autosomal dominant 148080 609165 17 in cluster of class I keratins KRT10|EHK|BCIE|BIE KRT10|NA|NA|NA KRT10 Epidermolytic hyperkeratosis Autosomal dominant 148080 113800 17 in cluster of class I keratins @@ -4984,14 +5036,14 @@ KRT10|EHK|BCIE|BIE KRT10|NA|NA|NA KRT10 Ichthyosis, cyclic, with epidermolytic h KRT12 KRT12 KRT12 Meesmann corneal dystrophy Autosomal dominant 601687 122100 17 NA KRT13|WSN2 KRT13|NA KRT13 White sponge nevus 2 Autosomal dominant 148065 615785 17 in same PFGE fragment as KRT10, KRT15 KRT9|EPPK KRT9|KRT9 KRT9 Palmoplantar keratoderma, epidermolytic Autosomal dominant 607606 144200 17 NA +KRT14 KRT14 KRT14 Epidermolysis bullosa simplex, Dowling-Meara type Autosomal dominant 148066 131760 17 NA KRT14 KRT14 KRT14 Dermatopathia pigmentosa reticularis Autosomal dominant 148066 125595 17 NA KRT14 KRT14 KRT14 Naegeli-Franceschetti-Jadassohn syndrome Autosomal dominant 148066 161000 17 NA KRT14 KRT14 KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type Autosomal dominant 148066 131800 17 NA KRT14 KRT14 KRT14 Epidermolysis bullosa simplex, recessive 1 Autosomal recessive 148066 601001 17 NA KRT14 KRT14 KRT14 Epidermolysis bullosa simplex, Koebner type Autosomal dominant 148066 131900 17 NA -KRT14 KRT14 KRT14 Epidermolysis bullosa simplex, Dowling-Meara type Autosomal dominant 148066 131760 17 NA -KRT16|FNEPPK|PC1 KRT16|NA|PCSK1 KRT16,PCSK1 Palmoplantar keratoderma, nonepidermolytic, focal Autosomal dominant 148067 613000 17 probably 17q21-q22 KRT16|FNEPPK|PC1 KRT16|NA|PCSK1 KRT16,PCSK1 Pachyonychia congenita 1 Autosomal dominant 148067 167200 17 probably 17q21-q22 +KRT16|FNEPPK|PC1 KRT16|NA|PCSK1 KRT16,PCSK1 Palmoplantar keratoderma, nonepidermolytic, focal Autosomal dominant 148067 613000 17 probably 17q21-q22 KRT17|PC2|PCHC1 KRT17|CBX4,PCSK2,PKD2|KRT17 KRT17,PCSK2,CBX4,PKD2 Steatocystoma multiplex Autosomal dominant 148069 184500 17 ~5' to KRT16; probably 17q21-q22 KRT17|PC2|PCHC1 KRT17|CBX4,PCSK2,PKD2|KRT17 KRT17,PCSK2,CBX4,PKD2 Pachyonychia congenita 2 Autosomal dominant 148069 167210 17 ~5' to KRT16; probably 17q21-q22 JUP|DP3|PDGB|ARVD12 JUP|APC,JUP|JUP|NA APC,JUP Naxos disease Autosomal recessive 173325 601214 17 incorrectly mapped to 7; close to BRCA1 @@ -4999,22 +5051,23 @@ JUP|DP3|PDGB|ARVD12 JUP|APC,JUP|JUP|NA APC,JUP Arrhythmogenic right ventricular FKBP10|FKBP65|OI11|BRKS1 FKBP10|NA|NA|NA FKBP10 Osteogenesis imperfecta, type XI Autosomal recessive 607063 610968 17 NA FKBP10|FKBP65|OI11|BRKS1 FKBP10|NA|NA|NA FKBP10 Bruck syndrome 1 Autosomal recessive 607063 259450 17 NA KLHL10|SPGF11 KLHL10|NA KLHL10 Spermatogenic failure 11 Autosomal dominant 608778 615081 17 NA +TTC25|CILD35 TTC25|NA TTC25 Ciliary dyskinesia, primary, 35 Autosomal recessive 617095 617092 17 NA HCRT|OX|NRCLP1 HCRT|HCRT|NA HCRT ?Narcolepsy 1 Autosomal dominant 602358 161400 17 mutation identified in 1 NRCLP1 patient -STAT5B STAT5B STAT5B Growth hormone insensitivity with immunodeficiency None 604260 245590 17 fused with RARA in PML STAT5B STAT5B STAT5B Leukemia, acute promyelocytic, somatic None 604260 102578 17 fused with RARA in PML +STAT5B STAT5B STAT5B Growth hormone insensitivity with immunodeficiency None 604260 245590 17 fused with RARA in PML STAT3|APRF|HIES|ADMIO1 STAT3|STAT3|NA|NA STAT3 Hyper-IgE recurrent infection syndrome Autosomal dominant 102582 147060 17 NA STAT3|APRF|HIES|ADMIO1 STAT3|STAT3|NA|NA STAT3 Autoimmune disease, multisystem, infantile-onset, 1 Autosomal dominant 102582 615952 17 NA PTRF|CAVIN|CGL4 PTRF|NA|NA PTRF Lipodystrophy, congenital generalized, type 4 Autosomal recessive 603198 613327 17 NA -NAGLU|MPS3B|CMT2V NAGLU|NA|NA NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) Autosomal recessive 609701 252920 17 mutation identified in 1 CMT2V family NAGLU|MPS3B|CMT2V NAGLU|NA|NA NAGLU ?Charcot-Marie-Tooth disease, axonal, type 2V Autosomal dominant 609701 616491 17 mutation identified in 1 CMT2V family +NAGLU|MPS3B|CMT2V NAGLU|NA|NA NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) Autosomal recessive 609701 252920 17 mutation identified in 1 CMT2V family COASY|NBIA6 COASY|NA COASY Neurodegeneration with brain iron accumulation 6 Autosomal recessive 609855 615643 17 NA PSMC3IP|TBPIP|GT198|HOP2|ODG3 PSMC3IP|PSMC3IP|PSMC3IP|NA|NA PSMC3IP Ovarian dysgenesis 3 Autosomal recessive 608665 614324 17 NA TUBG1|CDCBM4 TUBG1|NA TUBG1 Cortical dysplasia, complex, with other brain malformations 4 Autosomal dominant 191135 615412 17 NA CNTNAP1|CASPR|P190 CNTNAP1|NA|NA CNTNAP1 Lethal congenital contracture syndrome 7 Autosomal recessive 602346 616286 17 NA WNK4|PRKWNK4|PHA2B WNK4|WNK4|NA WNK4 Pseudohypoaldosteronism, type IIB Autosomal dominant 601844 614491 17 NA G6PC|G6PT G6PC|G6PC G6PC Glycogen storage disease Ia Autosomal recessive 613742 232200 17 NA -BRCA1|PSCP|BROVCA1|PNCA4 BRCA1|NA|NA|NA BRCA1 Pancreatic cancer, susceptibility to, 4 None 113705 614320 17 NA BRCA1|PSCP|BROVCA1|PNCA4 BRCA1|NA|NA|NA BRCA1 Breast-ovarian cancer, familial, 1 Autosomal dominant; Multifactorial 113705 604370 17 NA +BRCA1|PSCP|BROVCA1|PNCA4 BRCA1|NA|NA|NA BRCA1 Pancreatic cancer, susceptibility to, 4 None 113705 614320 17 NA MEOX1|MOX1|KFS2 MEOX1|CD200,MEOX1,NOX1|NA CD200,NOX1,MEOX1 Klippel-Feil syndrome 2 Autosomal recessive 600147 214300 17 NA SOST|VBCH|CDD|SOST1 SOST|SOST|CDA|NA SOST,CDA Van Buchem disease Autosomal recessive 605740 239100 17 NA SOST|VBCH|CDD|SOST1 SOST|SOST|CDA|NA SOST,CDA Sclerosteosis 1 Autosomal recessive 605740 269500 17 NA @@ -5022,75 +5075,77 @@ SOST|VBCH|CDD|SOST1 SOST|SOST|CDA|NA SOST,CDA Craniodiaphyseal dysplasia, autoso NAGS NAGS NAGS N-acetylglutamate synthase deficiency Autosomal recessive 608300 237310 17 NA G6PC3|UGRP|SCN4 G6PC3|G6PC3|NA G6PC3 Neutropenia, severe congenital 4, autosomal recessive Autosomal recessive 611045 612541 17 NA G6PC3|UGRP|SCN4 G6PC3|G6PC3|NA G6PC3 Dursun syndrome Autosomal recessive 611045 612541 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Spherocytosis, type 4 Autosomal dominant 109270 612653 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Wright None 109270 112050 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Renal tubular acidosis, distal, AR None 109270 611590 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Waldner None 109270 112010 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Renal tubular acidosis, distal, AD Autosomal dominant 109270 179800 17 NA -SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Swann None 109270 601550 17 NA SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Ovalocytosis, SA type Autosomal dominant 109270 166900 17 NA SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Froese None 109270 601551 17 NA SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Cryohydrocytosis Autosomal dominant 109270 185020 17 NA SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Diego None 109270 110500 17 NA SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Malaria, resistance to None 109270 611162 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Spherocytosis, type 4 Autosomal dominant 109270 612653 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Wright None 109270 112050 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Renal tubular acidosis, distal, AR Autosomal recessive 109270 611590 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Waldner None 109270 112010 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Renal tubular acidosis, distal, AD Autosomal dominant 109270 179800 17 NA +SLC4A1|AE1|EPB3|SPH4|SAO|CHC SLC4A1|SLC4A1|SLC4A1|NA|NA|NA SLC4A1 Blood group, Swann None 109270 601550 17 NA +GRN|CLN11 GRN|GRN GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions Autosomal dominant 138945 607485 17 NA GRN|CLN11 GRN|GRN GRN Ceroid lipofuscinosis, neuronal, 11 Autosomal recessive 138945 614706 17 NA GRN|CLN11 GRN|GRN GRN Aphasia, primary progressive Autosomal dominant 138945 607485 17 NA -GRN|CLN11 GRN|GRN GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions Autosomal dominant 138945 607485 17 NA -ITGA2B|GP2B|CD41B|GT|BDPLT2|BDPLT16 ITGA2B|ITGA2B|ITGA2B|NA|NA|NA ITGA2B Bleeding disorder, platelet-type, 16, autosomal dominant Autosomal dominant 607759 187800 17 3' to GP3A; BAK platelet antigen ITGA2B|GP2B|CD41B|GT|BDPLT2|BDPLT16 ITGA2B|ITGA2B|ITGA2B|NA|NA|NA ITGA2B Thrombocytopenia, neonatal alloimmune, BAK antigen related None 607759 NA 17 3' to GP3A; BAK platelet antigen ITGA2B|GP2B|CD41B|GT|BDPLT2|BDPLT16 ITGA2B|ITGA2B|ITGA2B|NA|NA|NA ITGA2B Glanzmann thrombasthenia Autosomal recessive 607759 273800 17 3' to GP3A; BAK platelet antigen +ITGA2B|GP2B|CD41B|GT|BDPLT2|BDPLT16 ITGA2B|ITGA2B|ITGA2B|NA|NA|NA ITGA2B Bleeding disorder, platelet-type, 16, autosomal dominant Autosomal dominant 607759 187800 17 3' to GP3A; BAK platelet antigen EFTUD2|KIAA0031|MFDGA EFTUD2|NA|NA EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type Autosomal dominant 603892 610536 17 NA CCDC103|SMH|PR46B|CILD17 CCDC103|NA|NA|CCDC103 CCDC103 Ciliary dyskinesia, primary, 17 Autosomal recessive 614677 614679 17 NA GFAP|ALXDRD GFAP|NA GFAP Alexander disease Autosomal dominant 137780 203450 17 NA PLEKHM1|AP162|KIAA0356|OPTB6 PLEKHM1|NA|PLEKHM1|NA PLEKHM1 Osteopetrosis, autosomal recessive 6 None 611466 611497 17 NA +MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Dementia, frontotemporal, with or without parkinsonism Autosomal dominant 157140 600274 17 see 6p21 +MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Parkinson disease, susceptibility to Isolated cases; Multifactorial 157140 168600 17 see 6p21 MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Supranuclear palsy, progressive atypical Autosomal recessive 157140 260540 17 see 6p21 MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Supranuclear palsy, progressive Autosomal dominant 157140 601104 17 see 6p21 MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Pick disease Autosomal dominant; Isolated cases 157140 172700 17 see 6p21 -MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Dementia, frontotemporal, with or without parkinsonism Autosomal dominant 157140 600274 17 see 6p21 -MAPT|MTBT1|DDPAC|MSTD MAPT|MAPT|MAPT|MAPT MAPT Parkinson disease, susceptibility to Isolated cases; Multifactorial 157140 168600 17 see 6p21 KANSL1|KIAA1267|MSL1V1|KDVS KANSL1|KANSL1|NA|NA KANSL1 Koolen-De Vries syndrome Autosomal dominant 612452 610443 17 NA WNT3|INT4|TETAMS WNT3|INTS4,WNT3|NA WNT3,INTS4 ?Tetra-amelia syndrome Autosomal recessive 165330 273395 17 mutation identified in 1 TETAMS family GOSR2|GS27|EPM6 GOSR2|GOSR2|NA GOSR2 Epilepsy, progressive myoclonic 6 Autosomal recessive 604027 614018 17 NA +ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Myocardial infarction, susceptibility to None 173470 608446 17 in same 260kb fragment as GP2B; PL(A) platelet antigen +ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Thrombocytopenia, neonatal alloimmune None 173470 NA 17 in same 260kb fragment as GP2B; PL(A) platelet antigen ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Purpura, posttransfusion None 173470 NA 17 in same 260kb fragment as GP2B; PL(A) platelet antigen ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Glanzmann thrombasthenia Autosomal recessive 173470 273800 17 in same 260kb fragment as GP2B; PL(A) platelet antigen ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant Autosomal dominant 173470 187800 17 in same 260kb fragment as GP2B; PL(A) platelet antigen -ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Myocardial infarction, susceptibility to None 173470 608446 17 in same 260kb fragment as GP2B; PL(A) platelet antigen -ITGB3|GP3A|GT|BDPLT2|BDPLT16 ITGB3|ITGB3|NA|NA|NA ITGB3 Thrombocytopenia, neonatal alloimmune None 173470 NA 17 in same 260kb fragment as GP2B; PL(A) platelet antigen -TBX21|TBET TBX21|NA TBX21 Asthma and nasal polyps Autosomal recessive 604895 208550 17 NA TBX21|TBET TBX21|NA TBX21 Asthma, aspirin-induced, susceptibility to Autosomal recessive 604895 208550 17 NA +TBX21|TBET TBX21|NA TBX21 Asthma and nasal polyps Autosomal recessive 604895 208550 17 NA PNPO PNPO PNPO Pyridoxamine 5'-phosphate oxidase deficiency Autosomal recessive 603287 610090 17 NA HOXB1|HOX2I|HCFP3 HOXB1|HOXB1|NA HOXB1 Facial paresis, hereditary congenital, 3 Autosomal recessive 142968 614744 17 NA PHB PHB PHB Breast cancer, susceptibility to Autosomal dominant 176705 114480 17 NA DLX4|DLX7|DLX8|OFC15 DLX4|DLX4|DLX4|NA DLX4 ?Orofacial cleft 15 Autosomal dominant 601911 616788 17 mutation identified in 1 OFC15 family DLX3|TDO|AI4 DLX3|TDO2|NA TDO2,DLX3 Trichodontoosseous syndrome Autosomal dominant 600525 190320 17 NA DLX3|TDO|AI4 DLX3|TDO2|NA TDO2,DLX3 Amelogenesis imperfecta, type IV Autosomal dominant 600525 104510 17 NA -ITGA3|CD49C|GAPB3|ILNEB ITGA3|NA|NA|NA ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Autosomal recessive 605025 614748 17 NA -SGCA|ADL|DAG2|LGMD2D|DMDA2 SGCA|SGCA|NA|SGCA|SGCA SGCA Muscular dystrophy, limb-girdle, type 2D Autosomal recessive 600119 608099 17 NA -COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type II Autosomal dominant 120150 166210 17 fused with PDGFB in DFPB -COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type I Autosomal dominant 120150 166200 17 fused with PDGFB in DFPB -COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Ehlers-Danlos syndrome, type VIIA Autosomal dominant 120150 130060 17 fused with PDGFB in DFPB -COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Bone mineral density variation QTL, osteoporosis Autosomal dominant 120150 166710 17 fused with PDGFB in DFPB +ITGA3|CD49C|GAPB3|ILNEB ITGA3|NA|NA|NA ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Autosomal recessive 605025 614748 17 NA +SGCA|ADL|DAG2|LGMD2D|DMDA2 SGCA|SGCA|NA|SGCA|SGCA SGCA Muscular dystrophy, limb-girdle, type 2D Autosomal recessive 600119 608099 17 NA COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Ehlers-Danlos syndrome, classic Autosomal dominant 120150 130000 17 fused with PDGFB in DFPB COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type IV Autosomal dominant 120150 166220 17 fused with PDGFB in DFPB COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Caffey disease Autosomal dominant 120150 114000 17 fused with PDGFB in DFPB COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type III Autosomal dominant 120150 259420 17 fused with PDGFB in DFPB -XYLT2|XT2|SOS XYLT2|NA|NA XYLT2 Spondyloocular syndrome Autosomal recessive 608125 605822 17 NA +COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type II Autosomal dominant 120150 166210 17 fused with PDGFB in DFPB +COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Osteogenesis imperfecta, type I Autosomal dominant 120150 166200 17 fused with PDGFB in DFPB +COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Ehlers-Danlos syndrome, type VIIA Autosomal dominant 120150 130060 17 fused with PDGFB in DFPB +COL1A1|OI1|OI2|OI3|OI4|EDSC COL1A1|NA|NA|NA|COL1A1,COL1A2|NA COL1A2,COL1A1 Bone mineral density variation QTL, osteoporosis Autosomal dominant 120150 166710 17 fused with PDGFB in DFPB XYLT2|XT2|SOS XYLT2|NA|NA XYLT2 Pseudoxanthoma elasticum, modifier of severity of Autosomal recessive 608125 264800 17 NA +XYLT2|XT2|SOS XYLT2|NA|NA XYLT2 Spondyloocular syndrome Autosomal recessive 608125 605822 17 NA CACNA1G|SCA42 CACNA1G|NA CACNA1G Spinocerebellar ataxia 42 Autosomal dominant 604065 616795 17 NA NME1|NM23 NME1,RMRP|NME1 NME1,RMRP Neuroblastoma Autosomal dominant; Isolated cases 156490 256700 17 NA +NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Stapes ankylosis with broad thumb and toes Autosomal dominant 602991 184460 17 NA +NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Multiple synostoses syndrome 1 Autosomal dominant 602991 186500 17 NA NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Brachydactyly, type B2 Autosomal dominant 602991 611377 17 NA NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Tarsal-carpal coalition syndrome Autosomal dominant 602991 186570 17 NA NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Symphalangism, proximal, 1A Autosomal dominant 602991 185800 17 NA -NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Stapes ankylosis with broad thumb and toes Autosomal dominant 602991 184460 17 NA -NOG|SYM1|SYNS1A NOG|MPV17,NOG|NA MPV17,NOG Multiple synostoses syndrome 1 Autosomal dominant 602991 186500 17 NA -DGKE|NPHS7|AHUS7 DGKE|NA|NA DGKE Nephrotic syndrome, type 7 Autosomal recessive 601440 615008 17 NA DGKE|NPHS7|AHUS7 DGKE|NA|NA DGKE Hemolytic uremic syndrome, atypical, susceptibility to, 7 Autosomal recessive 601440 615008 17 NA +DGKE|NPHS7|AHUS7 DGKE|NA|NA DGKE Nephrotic syndrome, type 7 Autosomal recessive 601440 615008 17 NA EPX|EPXD EPX|NA EPX Eosinophil peroxidase deficiency Autosomal recessive 131399 261500 17 NA -MKS1|MKS|BBS13 MKS1|MKS1|MKS1 MKS1 Meckel syndrome 1 Autosomal recessive 609883 249000 17 frequent in Finland -MKS1|MKS|BBS13 MKS1|MKS1|MKS1 MKS1 Bardet-Biedl syndrome 13 Autosomal recessive 609883 615990 17 frequent in Finland +MKS1|MKS|BBS13|JBTS28 MKS1|MKS1|MKS1|NA MKS1 Bardet-Biedl syndrome 13 Autosomal recessive 609883 615990 17 frequent in Finland +MKS1|MKS|BBS13|JBTS28 MKS1|MKS1|MKS1|NA MKS1 Meckel syndrome 1 Autosomal recessive 609883 249000 17 frequent in Finland +MKS1|MKS|BBS13|JBTS28 MKS1|MKS1|MKS1|NA MKS1 Joubert syndrome 28 None 609883 617121 17 frequent in Finland MPO MPO MPO Lung cancer, protection against, in smokers None 606989 NA 17 translocated in t(15;17)(q22;q11.2) MPO MPO MPO Alzheimer disease, susceptibility to Autosomal dominant 606989 104300 17 translocated in t(15;17)(q22;q11.2) MPO MPO MPO Myeloperoxidase deficiency Autosomal recessive 606989 254600 17 translocated in t(15;17)(q22;q11.2) +RNF43|RNF124|SSPCS RNF43|NA|NA RNF43 Sessile serrated polyposis cancer syndrome Autosomal dominant 612482 617108 17 NA RAD51C|FANCO|BROVCA3 RAD51C|RAD51C|NA RAD51C Breast-ovarian cancer, familial, susceptibility to, 3 None 602774 613399 17 NA RAD51C|FANCO|BROVCA3 RAD51C|RAD51C|NA RAD51C Fanconi anemia, complementation group O Autosomal recessive 602774 613390 17 NA TRIM37|MUL|KIAA0898 TRIM37|TRIM37|TRIM37 TRIM37 Mulibrey nanism Autosomal recessive 605073 253250 17 NA @@ -5098,43 +5153,42 @@ PTRH2|BIT1|IMNEPD PTRH2|PTRH2|NA PTRH2 Infantile-onset multisystem neurologic, e CA4|RP17 CA4|CA4 CA4 Retinitis pigmentosa 17 Autosomal dominant 114760 600852 17 NA PPM1D|WIP1 PPM1D|NA PPM1D Breast cancer Autosomal dominant 605100 114480 17 amplified in breast cancer TBX4|ICPPS TBX4|NA TBX4 Ischiocoxopodopatellar syndrome Autosomal dominant 601719 147891 17 NA -BRIP1|BACH1|FANCJ BRIP1,MRPL36|BACH1,BRIP1|BRIP1 MRPL36,BRIP1,BACH1 Fanconi anemia, complementation group J None 605882 609054 17 ?or 17q23 BRIP1|BACH1|FANCJ BRIP1,MRPL36|BACH1,BRIP1|BRIP1 MRPL36,BRIP1,BACH1 Breast cancer, early-onset Autosomal dominant 605882 114480 17 ?or 17q23 -ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Myocardial infarction, susceptibility to None 106180 NA 17 NA -ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Microvascular complications of diabetes 3 None 106180 612624 17 NA -ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Alzheimer disease, susceptibility to Autosomal dominant 106180 104300 17 NA +BRIP1|BACH1|FANCJ BRIP1,MRPL36|BACH1,BRIP1|BRIP1 MRPL36,BRIP1,BACH1 Fanconi anemia, complementation group J None 605882 609054 17 ?or 17q23 ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Angiotensin I-converting enzyme, benign serum increase None 106180 NA 17 NA -ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Stroke, hemorrhagic None 106180 614519 17 NA ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Renal tubular dysgenesis Autosomal recessive 106180 267430 17 NA +ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Stroke, hemorrhagic None 106180 614519 17 NA ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE SARS, progression of None 106180 NA 17 NA +ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Myocardial infarction, susceptibility to None 106180 NA 17 NA +ACE|DCP1|ACE1|MVCD3|ICH ACE|ACE|ACE|NA|NA ACE Microvascular complications of diabetes 3 None 106180 612624 17 NA TACO1|CCDC44 TACO1|TACO1 TACO1 Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 612958 220110 17 NA -STRADA|STRAD|LYK5 STRADA|STRADA|STRADA STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy None 608626 611087 17 NA +STRADA|STRAD|LYK5 STRADA|STRADA|STRADA STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy Autosomal recessive 608626 611087 17 NA CSH1|CSA|PL CSH1|CSH1,ERCC8|CSH1,PNLIP ERCC8,PNLIP,CSH1 Placental lactogen deficiency None 150200 NA 17 NA -GH1|GHN|IGHD1B GH1|GH1|NA GH1 Kowarski syndrome Autosomal recessive 139250 262650 17 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' GH1|GHN|IGHD1B GH1|GH1|NA GH1 Growth hormone deficiency, isolated, type II Autosomal dominant 139250 173100 17 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' GH1|GHN|IGHD1B GH1|GH1|NA GH1 Growth hormone deficiency, isolated, type IB None 139250 612781 17 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' GH1|GHN|IGHD1B GH1|GH1|NA GH1 Growth hormone deficiency, isolated, type IA Autosomal recessive 139250 262400 17 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' +GH1|GHN|IGHD1B GH1|GH1|NA GH1 Kowarski syndrome Autosomal recessive 139250 262650 17 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' CD79B|IGB|B29|AGM6 CD79B|CD79B|CD79B,MRO|NA MRO,CD79B Agammaglobulinemia 6 Autosomal recessive 147245 612692 17 NA +SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Hyperkalemic periodic paralysis, type 2 Autosomal dominant 603967 170500 17 21.5kb from GH1 +SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Paramyotonia congenita Autosomal dominant 603967 168300 17 21.5kb from GH1 SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Myotonia congenita, atypical, acetazolamide-responsive Autosomal dominant 603967 608390 17 21.5kb from GH1 SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Myasthenic syndrome, congenital, 16 Autosomal recessive 603967 614198 17 21.5kb from GH1 SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Hypokalemic periodic paralysis, type 2 Autosomal dominant 603967 613345 17 21.5kb from GH1 -SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Hyperkalemic periodic paralysis, type 2 Autosomal dominant 603967 170500 17 21.5kb from GH1 -SCN4A|HYPP|NAC1A|HOKPP2|CMS16 SCN4A|SCN4A|NA|NA|NA SCN4A Paramyotonia congenita Autosomal dominant 603967 168300 17 21.5kb from GH1 POLG2|POLGB|PEOA4 POLG2|NA|NA POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Autosomal dominant 604983 610131 17 NA CTRCT7|CCA1 CCA1|CCA1,TRNT1 CCA1,TRNT1 Cataract 7 Autosomal dominant 115660 115660 17 NA RGS9|PERRS RGS9,RGS9BP|RGS9,RGS9BP RGS9,RGS9BP Bradyopsia None 604067 608415 17 NA AXIN2|ODCRCS AXIN2|NA AXIN2 Oligodontia-colorectal cancer syndrome Autosomal dominant 604025 608615 17 NA AXIN2|ODCRCS AXIN2|NA AXIN2 Colorectal cancer, somatic None 604025 114500 17 NA PRKCA|PKCA PRKCA|PRKCA PRKCA Pituitary tumor, invasive None 176960 NA 17 cen-COL1A1-PKCA-GH1 -PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Myxoma, intracardiac Autosomal recessive 188830 255960 17 fused with RET to form PTC2 -PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Carney complex, type 1 Autosomal dominant 188830 160980 17 fused with RET to form PTC2 PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Adrenocortical tumor, somatic None 188830 NA 17 fused with RET to form PTC2 PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Acrodysostosis 1, with or without hormone resistance Autosomal dominant 188830 101800 17 fused with RET to form PTC2 PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Pigmented nodular adrenocortical disease, primary, 1 Autosomal dominant 188830 610489 17 fused with RET to form PTC2 +PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Myxoma, intracardiac Autosomal recessive 188830 255960 17 fused with RET to form PTC2 +PRKAR1A|TSE1|CNC1|CAR|PPNAD1|ACRDYS1 PRKAR1A|PRKAR1A|PRKAR1A|CXADR,NR1I3,SPG7,CXADRP1|NA|NA NR1I3,CXADR,CXADRP1,PRKAR1A,SPG7 Carney complex, type 1 Autosomal dominant 188830 160980 17 fused with RET to form PTC2 FAM20A|AIGFS|AI1G FAM20A|NA|NA FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome) Autosomal recessive 611062 204690 17 NA +KCNJ2|HHIRK1|KIR2.1|IRK1|LQT7|SQT3|ATFB9 KCNJ2|NA|NA|KCNJ2|KCNJ2|NA|NA KCNJ2 Short QT syndrome 3 None 600681 609622 17 NA KCNJ2|HHIRK1|KIR2.1|IRK1|LQT7|SQT3|ATFB9 KCNJ2|NA|NA|KCNJ2|KCNJ2|NA|NA KCNJ2 Atrial fibrillation, familial, 9 Autosomal dominant 600681 613980 17 NA KCNJ2|HHIRK1|KIR2.1|IRK1|LQT7|SQT3|ATFB9 KCNJ2|NA|NA|KCNJ2|KCNJ2|NA|NA KCNJ2 Andersen syndrome Autosomal dominant 600681 170390 17 NA -KCNJ2|HHIRK1|KIR2.1|IRK1|LQT7|SQT3|ATFB9 KCNJ2|NA|NA|KCNJ2|KCNJ2|NA|NA KCNJ2 Short QT syndrome 3 None 600681 609622 17 NA SOX9|CMD1|SRA1 SOX9|SOX9|SOX9,SRA1 SOX9,SRA1 Campomelic dysplasia with autosomal sex reversal Autosomal dominant 608160 114290 17 NA SOX9|CMD1|SRA1 SOX9|SOX9|SOX9,SRA1 SOX9,SRA1 Campomelic dysplasia Autosomal dominant 608160 114290 17 NA SOX9|CMD1|SRA1 SOX9|SOX9|SOX9,SRA1 SOX9,SRA1 Acampomelic campomelic dysplasia Autosomal dominant 608160 114290 17 NA @@ -5187,7 +5241,7 @@ DFNB46 DFNB46 DFNB46 Deafness, autosomal recessive 46 Autosomal recessive 609647 DYT15 DYT15 DYT15 Dystonia-15, myoclonic Autosomal dominant 607488 607488 18 NA DYT7 DYT7 DYT7 Dystonia-7, torsion Autosomal dominant 602124 602124 18 NA MAFD1|BPAD|MD1 MAFD1|MAFD1|NA MAFD1 Major affective disorder 1 Autosomal dominant 125480 125480 18 ?also 18q -MRT19 MRT19 MRT19 Mental retardation, autosomal recessive 19 None 614343 614343 18 between rs4606805 and rs1787846 +MRT19 MRT19 MRT19 Mental retardation, autosomal recessive 19 Autosomal recessive 614343 614343 18 between rs4606805 and rs1787846 SCZD8 SCZD8 SCZD8 Schizophrenia Autosomal dominant 603206 181500 18 NA SMCHD1|KIAA0650 SMCHD1|SMCHD1 SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic None 614982 158901 18 NA MYP2 MYP2 MYP2 Myopia-2 Autosomal dominant 160700 160700 18 NA @@ -5197,29 +5251,29 @@ LAMA1|PTBHS LAMA1|NA LAMA1 Poretti-Boltshauser syndrome Autosomal recessive 1503 DYX6|DYXQTL18 DYX6|NA DYX6 Dyslexia, susceptibility to, 6 None 606616 606616 18 NA FEB6 FEB6 FEB6 Febrile seizures, familial, 6 Autosomal dominant 609253 609253 18 max lod at D18S1158 PSORS10 PSORS10 PSORS10 Psoriasis susceptibility 10 None 612410 612410 18 between D18S63 and D18S967 -NDUFV2 NDUFV2 NDUFV2 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 600532 252010 18 pseudogene on 19q13.3-qter +NDUFV2 NDUFV2 NDUFV2 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 600532 252010 18 pseudogene on 19q13.3-qter APCDD1|HHS|HYPT1|HTS APCDD1|GALNT3|NA|NA APCDD1,GALNT3 Hypotrichosis 1 None 607479 605389 18 NA -PIEZO2|FAM38B|DA5|DA3|MWKS PIEZO2|PIEZO2|NA|NA|NA PIEZO2 Arthrogryposis, distal, type 5 Autosomal dominant 613629 108145 18 mutation identified in 1 MWKS patient PIEZO2|FAM38B|DA5|DA3|MWKS PIEZO2|PIEZO2|NA|NA|NA PIEZO2 Arthrogryposis, distal, type 3 Autosomal dominant 613629 114300 18 mutation identified in 1 MWKS patient PIEZO2|FAM38B|DA5|DA3|MWKS PIEZO2|PIEZO2|NA|NA|NA PIEZO2 ?Marden-Walker syndrome Autosomal dominant 613629 248700 18 mutation identified in 1 MWKS patient +PIEZO2|FAM38B|DA5|DA3|MWKS PIEZO2|PIEZO2|NA|NA|NA PIEZO2 Arthrogryposis, distal, type 5 Autosomal dominant 613629 108145 18 mutation identified in 1 MWKS patient GNAL|DYT25 GNAL|NA GNAL Dystonia 25 Autosomal dominant 139312 615073 18 NA -AFG3L2|SCA28|SPAX5 AFG3L2|AFG3L2|AFG3L2 AFG3L2 Ataxia, spastic, 5, autosomal recessive Autosomal recessive 604581 614487 18 NA AFG3L2|SCA28|SPAX5 AFG3L2|AFG3L2|AFG3L2 AFG3L2 Spinocerebellar ataxia 28 Autosomal dominant 604581 610246 18 NA +AFG3L2|SCA28|SPAX5 AFG3L2|AFG3L2|AFG3L2 AFG3L2 Ataxia, spastic, 5, autosomal recessive Autosomal recessive 604581 614487 18 NA MC2R MC2R MC2R Glucocorticoid deficiency, due to ACTH unresponsiveness Autosomal recessive 607397 202200 18 NA MIB1|MIB|DIP1|KIAA1323|LVNC7 MIB1|MIB1|CCNDBP1,NCKIPSD|MIB1|NA CCNDBP1,MIB1,NCKIPSD Left ventricular noncompaction 7 Autosomal dominant 608677 615092 18 NA +GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Tetralogy of Fallot Autosomal dominant 601656 187500 18 NA +GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Persistent truncus arteriosus None 601656 217095 18 NA GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Pancreatic agenesis and congenital heart defects Autosomal dominant 601656 600001 18 NA GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Atrioventricular septal defect 5 Autosomal dominant 601656 614474 18 NA GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Atrial septal defect 9 Autosomal dominant 601656 614475 18 NA -GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Tetralogy of Fallot Autosomal dominant 601656 187500 18 NA -GATA6|AVSD5|ASD9|AVSD5|PACHD GATA6|NA|NA|NA|NA GATA6 Persistent truncus arteriosus None 601656 217095 18 NA RBBP8|RIM|SCKL2|JWDS RBBP8|RBBP8,RIMS1|RBBP8|NA RBBP8,RIMS1 Seckel syndrome 2 Autosomal recessive 604124 606744 18 NA RBBP8|RIM|SCKL2|JWDS RBBP8|RBBP8,RIMS1|RBBP8|NA RBBP8,RIMS1 Pancreatic carcinoma, somatic None 604124 NA 18 NA RBBP8|RIM|SCKL2|JWDS RBBP8|RBBP8,RIMS1|RBBP8|NA RBBP8,RIMS1 Jawad syndrome Autosomal recessive 604124 251255 18 NA -NPC1|NPC NPC1|NA NPC1 Niemann-Pick disease, type D Autosomal recessive 607623 257220 18 some families not linked to 18; type D prob. allelic NPC1|NPC NPC1|NA NPC1 Niemann-Pick disease, type C1 Autosomal recessive 607623 257220 18 some families not linked to 18; type D prob. allelic -LAMA3|LOCS LAMA3,LAMA4|NA LAMA3,LAMA4 Epidermolysis bullosa, generalized atrophic benign Autosomal recessive 600805 226650 18 NA +NPC1|NPC NPC1|NA NPC1 Niemann-Pick disease, type D Autosomal recessive 607623 257220 18 some families not linked to 18; type D prob. allelic LAMA3|LOCS LAMA3,LAMA4|NA LAMA3,LAMA4 Laryngoonychocutaneous syndrome Autosomal recessive 600805 245660 18 NA LAMA3|LOCS LAMA3,LAMA4|NA LAMA3,LAMA4 Epidermolysis bullosa, junctional, Herlitz type Autosomal recessive 600805 226700 18 NA +LAMA3|LOCS LAMA3,LAMA4|NA LAMA3,LAMA4 Epidermolysis bullosa, generalized atrophic benign Autosomal recessive 600805 226650 18 NA SS18|SSXT|SYT SS18|SS18|SS18,SYT1 SS18,SYT1 Sarcoma, synovial None 600192 NA 18 5' SYST/3' SSRC in t(X;18) TAF4B|TAF2C2|TAFII105|SPGF13 TAF4B,PAPPA-AS1|TAF4B,PAPPA-AS1|TAF4B,PAPPA-AS1|NA PAPPA-AS1,TAF4B ?Spermatogenic failure 13 Autosomal recessive 601689 615841 18 mutation identified in 1 SPGF13 family KCTD1|SENS KCTD1|NA KCTD1 Scalp-ear-nipple syndrome Autosomal dominant 613420 181270 18 NA @@ -5231,16 +5285,17 @@ DSG1|PPKS1|SPPK1|EPKHE DSG1|NA|NA|NA DSG1 Erythroderma, congenital, with palmopl DSG4|LAH|HYPT6 DSG4|DSG4|NA DSG4 Hypotrichosis 6 Autosomal recessive 607892 607903 18 NA DSG2|ARVD10|ARVC10|CMD1BB DSG2|NA|NA|NA DSG2 Cardiomyopathy, dilated, 1BB None 125671 612877 18 NA DSG2|ARVD10|ARVC10|CMD1BB DSG2|NA|NA|NA DSG2 Arrhythmogenic right ventricular dysplasia 10 Autosomal dominant 125671 610193 18 NA -TTR|PALB TTR|TTR TTR Dystransthyretinemic hyperthyroxinemia Autosomal dominant 176300 145680 18 NA TTR|PALB TTR|TTR TTR Carpal tunnel syndrome, familial Autosomal dominant 176300 115430 18 NA TTR|PALB TTR|TTR TTR Amyloidosis, hereditary, transthyretin-related Autosomal dominant 176300 105210 18 NA +TTR|PALB TTR|TTR TTR Dystransthyretinemic hyperthyroxinemia Autosomal dominant 176300 145680 18 NA RNF125|TRAC1|TNORS RNF125|NCOR1|NA RNF125,NCOR1 Tenorio syndrome Autosomal dominant 610432 616260 18 NA ASXL3|KIAA1713|BRPS ASXL3|ASXL3|NA ASXL3 Bainbridge-Ropers syndrome None 615115 615485 18 NA DTNA|D18S892E|DRP3|LVNC1 DTNA|DTNA|DTNA|NA DTNA Left ventricular noncompaction 1, with or without congenital heart defects Autosomal dominant 601239 604169 18 NA MAPRE2|EB2|RP1|CSCSC2 MAPRE2|MAPRE2|MAPRE2,RP1,STK19|NA RP1,STK19,MAPRE2 Symmetric circumferential skin creases, congenital, 2 Autosomal dominant 605789 616734 18 NA OPA4 OPA4 OPA4 Optic atrophy 4 None 605293 605293 18 NA -SETBP1|KIAA0437|SEB|MRD29 SETBP1|SETBP1|SETBP1|NA SETBP1 Schinzel-Giedion midface retraction syndrome Autosomal dominant 611060 269150 18 fused with NUP98 in ALL +MOCOS|MCS|XAN2 MOCOS|MCS|NA MCS,MOCOS Xanthinuria, type II Autosomal recessive 613274 603592 18 NA SETBP1|KIAA0437|SEB|MRD29 SETBP1|SETBP1|SETBP1|NA SETBP1 Mental retardation, autosomal dominant 29 Autosomal dominant 611060 616078 18 fused with NUP98 in ALL +SETBP1|KIAA0437|SEB|MRD29 SETBP1|SETBP1|SETBP1|NA SETBP1 Schinzel-Giedion midface retraction syndrome Autosomal dominant 611060 269150 18 fused with NUP98 in ALL SLC14A1|JK|UTE|UT1 SLC14A1|SLC14A1|NA|NA SLC14A1 Blood group, Kidd None 613868 111000 18 previous suggestion of chr.7 or chr.2 EPG5|KIAA1632|HEEW1|VICIS EPG5|EPG5|NA|NA EPG5 Vici syndrome Autosomal recessive 615068 242840 18 NA ALS3 ALS3 ALS3 Amyotrophic lateral sclerosis 3 Autosomal dominant 606640 606640 18 NA @@ -5251,23 +5306,23 @@ ATP5A1|ATPM|ATP5A|ORM|MC5DN4|COXPD22 ATP5A1|ATP5A1,ATP5J|ATP5A1,ATP5J|ATP5A1|NA| LOXHD1|DFNB77 LOXHD1|LOXHD1 LOXHD1 Deafness, autosomal recessive 77 Autosomal recessive 613072 613079 18 NA IER3IP1|MEDS IER3IP1|NA IER3IP1 Microcephaly, epilepsy, and diabetes syndrome Autosomal recessive 609382 614231 18 NA SMAD7|MADH7|CRCS3 SMAD7|SMAD6,SMAD7|NA SMAD6,SMAD7 Colorectal cancer, susceptibility to, 3 None 602932 612229 18 NA -DYM|FLJ90130|DMC|SMC DYM|NA|CXCL17,DYM|DYM DYM,CXCL17 Smith-McCort dysplasia Autosomal recessive 607461 607326 18 NA DYM|FLJ90130|DMC|SMC DYM|NA|CXCL17,DYM|DYM DYM,CXCL17 Dyggve-Melchior-Clausen disease Autosomal recessive 607461 223800 18 NA +DYM|FLJ90130|DMC|SMC DYM|NA|CXCL17,DYM|DYM DYM,CXCL17 Smith-McCort dysplasia Autosomal recessive 607461 607326 18 NA MYO5B|KIAA1119 MYO5B|MYO5B MYO5B Microvillus inclusion disease Autosomal recessive 606540 251850 18 NA CCDC11|HTX6 CFAP53|NA CFAP53 Heterotaxy, visceral, 6, autosomal recessive Autosomal recessive 614759 614779 18 NA -MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Autosomal dominant 600993 175050 18 NA -MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Polyposis, juvenile intestinal Autosomal dominant 600993 174900 18 NA -MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Pancreatic cancer, somatic None 600993 260350 18 NA -MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Myhre syndrome Autosomal dominant 600993 139210 18 NA -DCC|MRMV1 DCC|NA DCC Mirror movements 1 Autosomal dominant 120470 157600 18 NA +SMAD4|MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Pancreatic cancer, somatic None 600993 260350 18 NA +SMAD4|MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Myhre syndrome Autosomal dominant 600993 139210 18 NA +SMAD4|MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Autosomal dominant 600993 175050 18 NA +SMAD4|MADH4|DPC4|SMAD4|JIP|MYHRS SMAD4|SMAD4|SMAD4|SMAD4|NA|NA SMAD4 Polyposis, juvenile intestinal Autosomal dominant 600993 174900 18 NA DCC|MRMV1 DCC|NA DCC Esophageal carcinoma, somatic None 120470 133239 18 NA DCC|MRMV1 DCC|NA DCC Colorectal cancer, somatic None 120470 114500 18 NA +DCC|MRMV1 DCC|NA DCC Mirror movements 1 Autosomal dominant 120470 157600 18 NA TCF4|SEF2|ITF2|PTHS|FECD3 TCF4,TCF7L2|NA|TCF4|NA|NA TCF4,TCF7L2 Pitt-Hopkins syndrome Autosomal dominant 602272 610954 18 NA TCF4|SEF2|ITF2|PTHS|FECD3 TCF4,TCF7L2|NA|TCF4|NA|NA TCF4,TCF7L2 Corneal dystrophy, Fuchs endothelial, 3 Autosomal dominant 602272 613267 18 NA FECH|FCE FECH|NA FECH Protoporphyria, erythropoietic, autosomal recessive Autosomal recessive 612386 177000 18 NA -ATP8B1|FIC1|BRIC|PFIC1|ICP1 ATP8B1|ATP8B1|ATP8B1|ATP8B1|NA ATP8B1 Cholestasis, benign recurrent intrahepatic Autosomal recessive 602397 243300 18 NA ATP8B1|FIC1|BRIC|PFIC1|ICP1 ATP8B1|ATP8B1|ATP8B1|ATP8B1|NA ATP8B1 Cholestasis, progressive familial intrahepatic 1 Autosomal recessive 602397 211600 18 NA ATP8B1|FIC1|BRIC|PFIC1|ICP1 ATP8B1|ATP8B1|ATP8B1|ATP8B1|NA ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1 Autosomal dominant 602397 147480 18 NA +ATP8B1|FIC1|BRIC|PFIC1|ICP1 ATP8B1|ATP8B1|ATP8B1|ATP8B1|NA ATP8B1 Cholestasis, benign recurrent intrahepatic Autosomal recessive 602397 243300 18 NA MALT1|MLT|IMD12 MALT1|MALT1|NA MALT1 Immunodeficiency 12 Autosomal recessive 604860 615468 18 fused with API2 in MALT lymphoma RAX|RX|MCOP3 PRKRA,RAX|RAX|NA PRKRA,RAX Microphthalmia, isolated 3 Autosomal recessive 601881 611038 18 NA LMAN1|ERGIC53|F5F8D|MCFD1 LMAN1|LMAN1|LMAN1,MCFD2|LMAN1 MCFD2,LMAN1 Combined factor V and VIII deficiency Autosomal recessive 601567 227300 18 NA @@ -5280,6 +5335,7 @@ TNFRSF11A|RANK|ODFR|FEO|OPTB7|PDB2 TNFRSF11A|TNFRSF11A|NA|TNFRSF11A|NA|TNFRSF11A BCL2 BCL2 BCL2 Leukemia/lymphoma, B-cell, 2 None 151430 NA 18 most frequent hematologic malignancy t(14;18)(q32;q21) FVT1 KDSR KDSR Lymphoma/leukemia, B-cell, variant None 136440 NA 18 ~10kb 5' to BCL2 SERPINB7|MEGSIN|PPKN SERPINB7|SERPINB7|NA SERPINB7 Palmoplantar keratoderma, Nagashima type Autosomal recessive 603357 615598 18 NA +SERPINB8|PI8|CAP2|PSS5 SERPINB8|SERPINB8|CAP2,SERPINB8|NA SERPINB8,CAP2 Peeling skin syndrome 5 Autosomal recessive 601697 617115 18 NA RTTN|MSSP RTTN|NA RTTN Microcephaly, short stature, and polymicrogyria with seizures Autosomal recessive 610436 614833 18 NA CYB5A|MCB5 CYB5A|NA CYB5A Methemoglobinemia, type IV Autosomal recessive 613218 250790 18 pseudogenes on X, 14q, 20p TSHZ1|TSH1|CAA TSHZ1|TSHZ1|NA TSHZ1 Aural atresia, congenital Autosomal dominant 614427 607842 18 NA @@ -5301,25 +5357,26 @@ KISS1R|GPR54|HH8|CPPB1 KISS1R|KISS1R|NA|NA KISS1R Hypogonadotropic hypogonadism KISS1R|GPR54|HH8|CPPB1 KISS1R|KISS1R|NA|NA KISS1R ?Precocious puberty, central, 1 Autosomal dominant 604161 176400 19 mutation identified in 1 CPPB1 patient ABCA7|ABCX|AD9 ABCA7|ABCA7|NA ABCA7 Alzheimer disease 9, susceptibility to Autosomal dominant 605414 608907 19 NA GPX4|SMDS GPX4|NA GPX4 Spondylometaphyseal dysplasia, Sedaghatian type Autosomal recessive 138322 250220 19 NA -STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Peutz-Jeghers syndrome Autosomal dominant 602216 175200 19 NA -STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Pancreatic cancer Autosomal dominant; Somatic mutation; Multifactorial 602216 260350 19 NA +STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Pancreatic cancer Somatic mutation; Autosomal dominant; Multifactorial 602216 260350 19 NA STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Melanoma, malignant, somatic None 602216 NA 19 NA STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Testicular tumor, somatic None 602216 273300 19 NA +STK11|PJS|LKB1 STK11|STK11|STK11 STK11 Peutz-Jeghers syndrome Autosomal dominant 602216 175200 19 NA NDUFS7|PSST NDUFS7|NDUFS7 NDUFS7 Leigh syndrome Mitochondrial; Autosomal recessive 601825 256000 19 NA GAMT|CCDS2 GAMT|NA GAMT Cerebral creatine deficiency syndrome 2 Autosomal recessive 601240 612736 19 NA TCF3|E2A|AGM8 TCF3,TCF7L1|TCF3|NA TCF7L1,TCF3 Agammaglobulinemia 8, autosomal dominant Autosomal dominant 147141 616941 19 NA ADAT3|TAD3|MRT36 ADAT3|ADAT3|NA ADAT3 Mental retardation, autosomal recessive 36 Autosomal recessive 615302 615286 19 NA +AP3D1|HPS10 AP3D1|NA AP3D1 ?Hermansky-Pudlak syndrome 10 Autosomal recessive 607246 617050 19 mutation identified in 1 HPS10 patient AMH|MIF AMH|MIF,S100A9 AMH,S100A9,MIF Persistent Mullerian duct syndrome, type I Autosomal recessive 600957 261550 19 NA -LMNB2|LMN2|EPM9 LMNB2|LMNB2|NA LMNB2 ?Epilepsy, progressive myoclonic, 9 Autosomal recessive 150341 616540 19 mutation identified in 1 EPM9 family LMNB2|LMN2|EPM9 LMNB2|LMNB2|NA LMNB2 Lipodystrophy, partial, acquired, susceptibility to Autosomal dominant 150341 608709 19 mutation identified in 1 EPM9 family +LMNB2|LMN2|EPM9 LMNB2|LMNB2|NA LMNB2 ?Epilepsy, progressive myoclonic, 9 Autosomal recessive 150341 616540 19 mutation identified in 1 EPM9 family TLE6|GRG6|PREMBL TLE6|TLE6|NA TLE6 Preimplantation embryonic lethality Autosomal recessive 612399 616814 19 NA GNA11|HHC2|HYPOC2 GNA11|GNA11|NA GNA11 Hypocalciuric hypercalcemia, type II Autosomal dominant 139313 145981 19 NA GNA11|HHC2|HYPOC2 GNA11|GNA11|NA GNA11 Hypocalcemia, autosomal dominant 2 Autosomal dominant 139313 615361 19 NA GIPC3|DFNB15|DFNB72|DFNB95 GIPC3|GIPC3|GIPC3|GIPC3 GIPC3 Deafness, autosomal recessive 15 Autosomal recessive 608792 601869 19 NA TBXA2R|BDPLT13 TBXA2R|NA TBXA2R Bleeding disorder, platelet-type, 13, susceptibility to Autosomal dominant 188070 614009 19 NA PIP5K1C|LCCS3 PIP5K1C|PIP5K1C PIP5K1C Lethal congenital contractural syndrome 3 Autosomal recessive 606102 611369 19 NA -RAX2|RAXL1|QRX|CORD11|ARMD6 RAX2|RAX2|NA|RAX2|RAX2 RAX2 ?Macular degeneration, age-related, 6 None 610362 613757 19 mutation identified in 1 ARMD6 patient RAX2|RAXL1|QRX|CORD11|ARMD6 RAX2|RAX2|NA|RAX2|RAX2 RAX2 Cone-rod dystrophy 11 Autosomal dominant 610362 610381 19 mutation identified in 1 ARMD6 patient +RAX2|RAXL1|QRX|CORD11|ARMD6 RAX2|RAX2|NA|RAX2|RAX2 RAX2 ?Macular degeneration, age-related, 6 None 610362 613757 19 mutation identified in 1 ARMD6 patient ATCAY|CLAC|KIAA1872 ATCAY|NA|NA ATCAY Ataxia, cerebellar, Cayman type Autosomal recessive 608179 601238 19 NA EEF2|EF2|SCA26 EEF2|EEF2|SCA26 SCA26,EEF2 ?Spinocerebellar ataxia 26 Autosomal dominant 130610 609306 19 mutation identified in 1 family MAP2K2|PRKMK2|MEK2|MKK2|CFC4 MAP2K2|MAP2K2|MAP2K2|NA|NA MAP2K2 Cardiofaciocutaneous syndrome 4 None 601263 615280 19 previously assigned to 7q32 @@ -5328,30 +5385,30 @@ TICAM1|TRIF|IIAE6 TICAM1|TICAM1|NA TICAM1 Herpes simplex encephalitic, susceptib LONP1|PRSS15|LON|CODASS LONP1|LONP1|NA|NA LONP1 CODAS syndrome Autosomal recessive 605490 600373 19 NA FUT6 FUT6 FUT6 Fucosyltransferase 6 deficiency None 136836 613852 19 in cluster with FUT3, FUT5 FUT3|LE FUT3|FUT3,HPS4 HPS4,FUT3 Blood group, Lewis None 111100 NA 19 cen-FUT5-23kb-FUT3-14kb-FUT6-ter -NDUFA11 NDUFA11 NDUFA11 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 612638 252010 19 NA +NDUFA11 NDUFA11 NDUFA11 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 612638 252010 19 NA CLPP|PRLTS3|DFNB81 CLPP|NA|DFNB81 CLPP,DFNB81 Perrault syndrome 3 Autosomal recessive 601119 614129 19 NA TUBB4A|DYT4|HLD6 TUBB4A|TUBB4A|NA TUBB4A Leukodystrophy, hypomyelinating, 6 Autosomal dominant 602662 612438 19 NA TUBB4A|DYT4|HLD6 TUBB4A|TUBB4A|NA TUBB4A Dystonia 4, torsion, autosomal dominant Autosomal dominant 602662 128101 19 NA +C3|ARMD9|AHUS5 C3|C3|NA C3 C3 deficiency Autosomal recessive 120700 613779 19 LE ~7cM in males vs. C3 RFLP C3|ARMD9|AHUS5 C3|C3|NA C3 Macular degeneration, age-related, 9 None 120700 611378 19 LE ~7cM in males vs. C3 RFLP C3|ARMD9|AHUS5 C3|C3|NA C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5 Autosomal dominant 120700 612925 19 LE ~7cM in males vs. C3 RFLP -C3|ARMD9|AHUS5 C3|C3|NA C3 C3 deficiency Autosomal recessive 120700 613779 19 LE ~7cM in males vs. C3 RFLP PCOS1|PCO1|PCO PCOS1|NA|NA PCOS1 Polycystic ovary syndrome 1 Autosomal dominant 184700 184700 19 max lod at D19S884 +INSR|HHF5 INSR|NA INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans None 147670 610549 19 1 gene for alpha and beta subunits INSR|HHF5 INSR|NA INSR Rabson-Mendenhall syndrome Autosomal recessive 147670 262190 19 1 gene for alpha and beta subunits INSR|HHF5 INSR|NA INSR Leprechaunism Autosomal recessive 147670 246200 19 1 gene for alpha and beta subunits INSR|HHF5 INSR|NA INSR Hyperinsulinemic hypoglycemia, familial, 5 Autosomal dominant 147670 609968 19 1 gene for alpha and beta subunits -INSR|HHF5 INSR|NA INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans None 147670 610549 19 1 gene for alpha and beta subunits MCOLN1|ML4 MCOLN1|MCOLN1 MCOLN1 Mucolipidosis IV Autosomal recessive 605248 252650 19 NA +PNPLA6|NTE|SPG39|NTEMND|BNHS|LNMS|OMCS PNPLA6|PNPLA6|PNPLA6|NA|NA|NA|NA PNPLA6 Spastic paraplegia 39, autosomal recessive Autosomal recessive 603197 612020 19 mutation identified in 1 LMNS family PNPLA6|NTE|SPG39|NTEMND|BNHS|LNMS|OMCS PNPLA6|PNPLA6|PNPLA6|NA|NA|NA|NA PNPLA6 Oliver-McFarlane syndrome Autosomal recessive 603197 275400 19 mutation identified in 1 LMNS family PNPLA6|NTE|SPG39|NTEMND|BNHS|LNMS|OMCS PNPLA6|PNPLA6|PNPLA6|NA|NA|NA|NA PNPLA6 Boucher-Neuhauser syndrome Autosomal recessive 603197 215470 19 mutation identified in 1 LMNS family PNPLA6|NTE|SPG39|NTEMND|BNHS|LNMS|OMCS PNPLA6|PNPLA6|PNPLA6|NA|NA|NA|NA PNPLA6 ?Laurence-Moon syndrome Autosomal recessive 603197 245800 19 mutation identified in 1 LMNS family -PNPLA6|NTE|SPG39|NTEMND|BNHS|LNMS|OMCS PNPLA6|PNPLA6|PNPLA6|NA|NA|NA|NA PNPLA6 Spastic paraplegia 39, autosomal recessive Autosomal recessive 603197 612020 19 mutation identified in 1 LMNS family PET100|C19orf79 PET100|PET100 PET100 Mitochondrial complex IV deficiency Mitochondrial; Autosomal recessive 614770 220110 19 NA STXBP2|UNC18B|FHL5 STXBP2|STXBP2|FHL5 STXBP2,FHL5 Hemophagocytic lymphohistiocytosis, familial, 5 None 601717 613101 19 NA RETN|RSTN|FIZZ3 RETN|NA|RETN RETN Hypertension, insulin resistance-related, susceptibility to Autosomal dominant 605565 125853 19 NA RETN|RSTN|FIZZ3 RETN|NA|RETN RETN Diabetes mellitus, noninsulin-dependent, susceptibility to Autosomal dominant 605565 125853 19 NA +CD209|CDSIGN CD209|CD209 CD209 Mycobacterium tuberculosis, susceptibility to None 604672 607948 19 NA CD209|CDSIGN CD209|CD209 CD209 HIV type 1, susceptibility to None 604672 609423 19 NA CD209|CDSIGN CD209|CD209 CD209 Dengue fever, protection against None 604672 614371 19 NA -CD209|CDSIGN CD209|CD209 CD209 Mycobacterium tuberculosis, susceptibility to None 604672 607948 19 NA CLEC4M|CD209L|LSIGN|DCSIGNR CLEC4M|CLEC4M|CLEC4M|CLEC4M CLEC4M SARS infection, protection against None 605872 605872 19 NA CD320|8D6|8D6A|TCBLR CD320|CD320|CD320|NA CD320 Methylmalonic aciduria due to transcobalamin receptor defect None 606475 613646 19 NA RPS28|DBA15 RPS28|NA RPS28 Diamond Blackfan anemia 15 with mandibulofacial dysostosis Autosomal dominant 603685 606164 19 NA @@ -5363,38 +5420,39 @@ S1PR2|EDG5|DFNB68 S1PR2|S1PR2|DFNB68 S1PR2,DFNB68 Deafness, autosomal recessive ICAM1 ICAM1 ICAM1 Malaria, cerebral, susceptibility to None 147840 611162 19 close to Ldlr in mouse ICAM4|CD242|LW ICAM4|ICAM4|ICAM4 ICAM4 Blood group, Landsteiner-Wiener None 614088 111250 19 close to C3, LU TYK2|IMD35 TYK2|NA TYK2 Immunodeficiency 35 Autosomal recessive 176941 611521 19 NA -DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Myopathy, centronuclear Autosomal dominant 602378 160150 19 1 LCCS5 family identified with mutation -DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Lethal congenital contracture syndrome 5 Autosomal recessive 602378 615368 19 1 LCCS5 family identified with mutation DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Charcot-Marie-Tooth disease, dominant intermediate B Autosomal dominant 602378 606482 19 1 LCCS5 family identified with mutation DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Charcot-Marie-Tooth disease, axonal, type 2M Autosomal dominant 602378 606482 19 1 LCCS5 family identified with mutation +DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Myopathy, centronuclear Autosomal dominant 602378 160150 19 1 LCCS5 family identified with mutation +DNM2|CMTDIB|CMTDI1|CMT2M|LCCS5 DNM2|DNM2|DNM2|NA|NA DNM2 Lethal congenital contracture syndrome 5 Autosomal recessive 602378 615368 19 1 LCCS5 family identified with mutation SMARCA4|BRG1|RTPS2|MRD16|CSS4 SMARCA4|SMARCA4|NA|NA|NA SMARCA4 Rhabdoid tumor predisposition syndrome 2 Autosomal dominant 603254 613325 19 NA SMARCA4|BRG1|RTPS2|MRD16|CSS4 SMARCA4|SMARCA4|NA|NA|NA SMARCA4 Coffin-Siris syndrome 4 Autosomal dominant 603254 614609 19 NA -LDLR|FHC|FH|LDLCQ2 LDLR|FTH1,MYBPC3|FH|LDLR FH,LDLR,FTH1,MYBPC3 Hypercholesterolemia, familial Autosomal dominant 606945 143890 19 ~20cM distal to C3 LDLR|FHC|FH|LDLCQ2 LDLR|FTH1,MYBPC3|FH|LDLR FH,LDLR,FTH1,MYBPC3 LDL cholesterol level QTL2 Autosomal dominant 606945 143890 19 ~20cM distal to C3 +LDLR|FHC|FH|LDLCQ2 LDLR|FTH1,MYBPC3|FH|LDLR FH,LDLR,FTH1,MYBPC3 Hypercholesterolemia, familial Autosomal dominant 606945 143890 19 ~20cM distal to C3 KANK2|ANKRD25|KIAA1518|PPKWH KANK2|KANK2|KANK2|NA KANK2 Palmoplantar keratoderma and woolly hair Autosomal recessive 614610 616099 19 NA DOCK6|KIAA1395|AOS2 DOCK6|DOCK6|NA DOCK6 Adams-Oliver syndrome 2 Autosomal recessive 614194 614219 19 NA EPOR EPOR EPOR Erythrocytosis, familial, 1 Autosomal dominant 133171 133100 19 NA CCDC151|CILD30 CCDC151|NA CCDC151 Ciliary dyskinesia, primary, 30 Autosomal recessive 615956 616037 19 NA -PRKCSH|G19P1|PCLD PRKCSH|PRKCSH|PRKCSH PRKCSH Polycystic liver disease Autosomal dominant 177060 174050 19 NA +PRKCSH|G19P1|PCLD1 PRKCSH|PRKCSH|NA PRKCSH Polycystic liver disease 1 Autosomal dominant 177060 174050 19 NA ACP5|SPENCDI ACP5|NA ACP5 Spondyloenchondrodysplasia with immune dysregulation Autosomal recessive 171640 607944 19 incorrectly assigned to 15 by A MAN2B1|MANB MAN2B1|MAN2B1 MAN2B1 Mannosidosis, alpha-, types I and II Autosomal recessive 609458 248500 19 NA RNASEH2A|RNHIA|AGS4 RNASEH2A|RNASEH2A|GPSM3,RNASEH2A RNASEH2A,GPSM3 Aicardi-Goutieres syndrome 4 Autosomal recessive 606034 610333 19 NA -KLF1|EKLF|INLU|HBFQTL6|CDAN4 KLF1|KLF1|NA|NA|NA KLF1 Blood group--Lutheran inhibitor None 600599 111150 19 NA KLF1|EKLF|INLU|HBFQTL6|CDAN4 KLF1|KLF1|NA|NA|NA KLF1 Hereditary persistence of fetal hemoglobin None 600599 613566 19 NA KLF1|EKLF|INLU|HBFQTL6|CDAN4 KLF1|KLF1|NA|NA|NA KLF1 Dyserythropoietic anemia, congenital, type IV Autosomal dominant 600599 613673 19 NA +KLF1|EKLF|INLU|HBFQTL6|CDAN4 KLF1|KLF1|NA|NA|NA KLF1 Blood group--Lutheran inhibitor None 600599 111150 19 NA GCDH GCDH GCDH Glutaricaciduria, type I Autosomal recessive 608801 231670 19 NA CALR|SSA CALR|CALR CALR Thrombocythemia, somatic None 109091 187950 19 distal to C3, near LDLR CALR|SSA CALR|CALR CALR Myelofibrosis, somatic None 109091 254450 19 distal to C3, near LDLR NFIX|NF1A|SOTOS2|MRSHSS NFIX|NFIX|NA|NA NFIX Sotos syndrome 2 Autosomal dominant 164005 614753 19 NA NFIX|NF1A|SOTOS2|MRSHSS NFIX|NFIX|NA|NA NFIX Marshall-Smith syndrome Autosomal dominant 164005 602535 19 NA LYL1 LYL1 LYL1 Leukemia, T-cell acute lymphoblastoid None 151440 151440 19 NA -CACNA1A|CACNL1A4|SCA6 CACNA1A|CACNA1A|CACNA1A CACNA1A Migraine, familial hemiplegic, 1 Autosomal dominant 601011 141500 19 NA -CACNA1A|CACNL1A4|SCA6 CACNA1A|CACNA1A|CACNA1A CACNA1A Episodic ataxia, type 2 Autosomal dominant 601011 108500 19 NA -CACNA1A|CACNL1A4|SCA6 CACNA1A|CACNA1A|CACNA1A CACNA1A Spinocerebellar ataxia 6 Autosomal dominant 601011 183086 19 NA -CACNA1A|CACNL1A4|SCA6 CACNA1A|CACNA1A|CACNA1A CACNA1A Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Autosomal dominant 601011 141500 19 NA +CACNA1A|CACNL1A4|SCA6|EIEE42 CACNA1A|CACNA1A|CACNA1A|NA CACNA1A Epileptic encephalopathy, early infantile, 42 Autosomal dominant 601011 617106 19 NA +CACNA1A|CACNL1A4|SCA6|EIEE42 CACNA1A|CACNA1A|CACNA1A|NA CACNA1A Spinocerebellar ataxia 6 Autosomal dominant 601011 183086 19 NA +CACNA1A|CACNL1A4|SCA6|EIEE42 CACNA1A|CACNA1A|CACNA1A|NA CACNA1A Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Autosomal dominant 601011 141500 19 NA +CACNA1A|CACNL1A4|SCA6|EIEE42 CACNA1A|CACNA1A|CACNA1A|NA CACNA1A Migraine, familial hemiplegic, 1 Autosomal dominant 601011 141500 19 NA +CACNA1A|CACNL1A4|SCA6|EIEE42 CACNA1A|CACNA1A|CACNA1A|NA CACNA1A Episodic ataxia, type 2 Autosomal dominant 601011 108500 19 NA CC2D1A|MRT3 CC2D1A|CC2D1A CC2D1A Mental retardation, autosomal recessive 3 Autosomal recessive 610055 608443 19 NA PRKACA PRKACA PRKACA Cushing syndrome, ACTH-independent adrenal, somatic None 601639 615830 19 NA -TECR|GPSN2|TER|SC2|MRT14 TECR|TECR|TECR|TECR|TECR TECR Mental retardation, autosomal recessive 14 None 610057 614020 19 NA +TECR|GPSN2|TER|SC2|MRT14 TECR|TECR|TECR|TECR|TECR TECR Mental retardation, autosomal recessive 14 Autosomal recessive 610057 614020 19 NA ADGRE2|EMR2|VBU NA|EMR2|NA EMR2 Vibratory urticaria Autosomal dominant 606100 125630 19 NA NOTCH3|CADASIL1|CASIL|IMF2|LMNS NOTCH3|NA|NOTCH3|NA|NA NOTCH3 Lateral meningocele syndrome Autosomal dominant 600276 130720 19 mutation identified in 1 IMF2 family NOTCH3|CADASIL1|CASIL|IMF2|LMNS NOTCH3|NA|NOTCH3|NA|NA NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Autosomal dominant 600276 125310 19 mutation identified in 1 IMF2 family @@ -5410,13 +5468,13 @@ IL12RB1|IMD30 IL12RB1|NA IL12RB1 Immunodeficiency 30 Autosomal recessive 601604 PIK3R2|MPPH1 PIK3R2|NA PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Autosomal dominant 603157 603387 19 NA CRLF1|CISS1 CRLF1|CRLF1 CRLF1 Cold-induced sweating syndrome 1 Autosomal recessive 604237 272430 19 NA CRTC1|MECT1|KIAA0616|FLJ14027 CRTC1|CRTC1|CRTC1|CRTC1 CRTC1 Mucoepidermoid salivary gland carcinoma None 607536 NA 19 t(11;19) -COMP|EDM1|MED|PSACH COMP|COMP|COL9A2,COL9A3,COMP,SCN8A|COMP COMP,SCN8A,COL9A2,COL9A3 Epiphyseal dysplasia, multiple, 1 Autosomal dominant 600310 132400 19 NA COMP|EDM1|MED|PSACH COMP|COMP|COL9A2,COL9A3,COMP,SCN8A|COMP COMP,SCN8A,COL9A2,COL9A3 Pseudoachondroplasia Autosomal dominant 600310 177170 19 NA +COMP|EDM1|MED|PSACH COMP|COMP|COL9A2,COL9A3,COMP,SCN8A|COMP COMP,SCN8A,COL9A2,COL9A3 Epiphyseal dysplasia, multiple, 1 Autosomal dominant 600310 132400 19 NA CERS1|LASS1|UOG1|EPM8 CERS1|CERS1|CERS1|NA CERS1 ?Epilepsy, progressive myoclonic, 8 Autosomal recessive 606919 616230 19 mutation identified in 1 EPM8 family -GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Tetralogy of Fallot Autosomal dominant 602880 187500 19 NA -GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Right atrial isomerism Autosomal recessive 602880 208530 19 NA GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Double-outlet right ventricle None 602880 217095 19 NA GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Transposition of great arteries, dextro-looped 3 Autosomal dominant 602880 613854 19 NA +GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Tetralogy of Fallot Autosomal dominant 602880 187500 19 NA +GDF1|DTGA3|DORV|RAI GDF1|NA|NA|PPP1R13L,RNH1 GDF1,PPP1R13L,RNH1 Right atrial isomerism Autosomal recessive 602880 208530 19 NA RFXANK RFXANK RFXANK MHC class II deficiency, complementation group B Autosomal recessive 603200 209920 19 NA NDUFA13|GRIM19 NDUFA13|NDUFA13 NDUFA13 Thyroid carcinoma, Hurthle cell None 609435 607464 19 NA C19orf12|NBIA4|SPG43 C19orf12|C19orf12|C19orf12 C19orf12 Neurodegeneration with brain iron accumulation 4 Autosomal recessive 614297 614298 19 mutation identified in 1 SPG43 family @@ -5446,14 +5504,14 @@ SYNE4|NESP4|C19orf46|DFNB76 SYNE4|NA|SYNE4|SYNE4 SYNE4 Deafness, autosomal reces WDR62|C19orf14|MCPH2 WDR62|WDR62|WDR62 WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Autosomal recessive 613583 604317 19 NA SIPA1L3|SPAL3|SPAR3|KIAA0545|CTRCT45 SIPA1L3|NA|NA|SIPA1L3|NA SIPA1L3 ?Cataract 45 Autosomal recessive 616655 616851 19 mutation identified in 1 CTRCT45 family CFM1 CFM1 CFM1 Meconium ileus in cystic fibrosis, susceptibility to None 603855 603855 19 NA -MRT11 MRT11 MRT11 Mental retardation, autosomal recessive, 11 None 611097 611097 19 between rs2109075 and rs8101149 +MRT11 MRT11 MRT11 Mental retardation, autosomal recessive, 11 Autosomal recessive 611097 611097 19 between rs2109075 and rs8101149 TEC TEC TEC Transient erythroblastopenia of childhood Autosomal recessive 227050 227050 19 NA SPINT2|HAI2|DIAR3 SPINT2|NA|NA SPINT2 Diarrhea 3, secretory sodium, congenital, syndromic Autosomal recessive 605124 270420 19 NA -RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 King-Denborough syndrome Autosomal dominant 180901 145600 19 NA RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 Central core disease Autosomal dominant; Autosomal recessive 180901 117000 19 NA RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 Malignant hyperthermia susceptibility 1 Autosomal dominant 180901 145600 19 NA RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 Neuromuscular disease, congenital, with uniform type 1 fiber Autosomal dominant; Autosomal recessive 180901 117000 19 NA RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 Minicore myopathy with external ophthalmoplegia Autosomal recessive 180901 255320 19 NA +RYR1|MHS|CCO RYR1|RYR1|RYR1 RYR1 King-Denborough syndrome Autosomal dominant 180901 145600 19 NA ACTN4|FSGS1|FSGS ACTN4|ACTN4|NA ACTN4 Glomerulosclerosis, focal segmental, 1 Autosomal dominant 604638 603278 19 NA SARS2 SARS2 SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Autosomal recessive 612804 613845 19 NA IFNL3|IL28B IFNL3|IFNL3 IFNL3 Hepatitis C virus infection, response to therapy of None 607402 609532 19 NA @@ -5467,9 +5525,9 @@ PRX|CMT4F PRDX6,PRX|NA PRDX6,PRX Charcot-Marie-Tooth disease, type 4F Autosomal LTBP4|LTBP4S|LTBP4L|ARCL1C LTBP4|NA|NA|NA LTBP4 Cutis laxa, autosomal recessive, type IC Autosomal recessive 604710 613177 19 NA ADCK4|NPHS9 ADCK4|NA ADCK4 Nephrotic syndrome, type 9 Autosomal recessive 615567 615573 19 NA ITPKC ITPKC ITPKC Kawasaki disease, susceptibility to None 606476 611775 19 NA -CYP2A6|CYP2A3|CYP2A|P450C2A CYP2A6|CYP2A6|CYP2A6,CYP2A7,CYP2A13,CYP2A|CYP2A CYP2A13,CYP2A,CYP2A7,CYP2A6 Lung cancer, resistance to Autosomal recessive 122720 211980 19 NA CYP2A6|CYP2A3|CYP2A|P450C2A CYP2A6|CYP2A6|CYP2A6,CYP2A7,CYP2A13,CYP2A|CYP2A CYP2A13,CYP2A,CYP2A7,CYP2A6 Coumarin resistance Autosomal dominant 122720 122700 19 NA CYP2A6|CYP2A3|CYP2A|P450C2A CYP2A6|CYP2A6|CYP2A6,CYP2A7,CYP2A13,CYP2A|CYP2A CYP2A13,CYP2A,CYP2A7,CYP2A6 Nicotine addiction, protection from None 122720 188890 19 NA +CYP2A6|CYP2A3|CYP2A|P450C2A CYP2A6|CYP2A6|CYP2A6,CYP2A7,CYP2A13,CYP2A|CYP2A CYP2A13,CYP2A,CYP2A7,CYP2A6 Lung cancer, resistance to Autosomal recessive 122720 211980 19 NA CYP2B6|CYP2B|EFVM CYP2B6|CYP2B6,CYP2B7P|NA CYP2B6,CYP2B7P Efavirenz central nervous system toxicity, susceptibility to None 123930 614546 19 same NotI fragment as CYP2A CYP2B6|CYP2B|EFVM CYP2B6|CYP2B6,CYP2B7P|NA CYP2B6,CYP2B7P Efavirenz, poor metabolism of None 123930 614546 19 same NotI fragment as CYP2A TGFB1|DPD1|CED TGFB1|TGFB1|TGFB1 TGFB1 Cystic fibrosis lung disease, modifier of Autosomal recessive 190180 219700 19 NA @@ -5478,9 +5536,9 @@ B9D2|MKS10 B9D2|B9D2 B9D2 Meckel syndrome 10 Autosomal recessive 611951 614175 1 BCKDHA|MSUD1 BCKDHA|NA BCKDHA Maple syrup urine disease, type Ia Autosomal recessive 608348 248600 19 NA RPS19|DBA|DBA1 RPS19|RPS19,LOH19CR1|NA LOH19CR1,RPS19 Diamond-Blackfan anemia 1 Autosomal dominant 603474 105650 19 NA CD79A|IGA CD79A|CD79A CD79A Agammaglobulinemia 3 Autosomal recessive 112205 613501 19 NA -ATP1A3|DYT12|RDP|AHC2|CAPOS ATP1A3|ATP1A3|NELFE|NA|NA ATP1A3,NELFE CAPOS syndrome Autosomal dominant 182350 601338 19 NA ATP1A3|DYT12|RDP|AHC2|CAPOS ATP1A3|ATP1A3|NELFE|NA|NA ATP1A3,NELFE Alternating hemiplegia of childhood 2 Autosomal dominant 182350 614820 19 NA ATP1A3|DYT12|RDP|AHC2|CAPOS ATP1A3|ATP1A3|NELFE|NA|NA ATP1A3,NELFE Dystonia-12 Autosomal dominant 182350 128235 19 NA +ATP1A3|DYT12|RDP|AHC2|CAPOS ATP1A3|ATP1A3|NELFE|NA|NA ATP1A3,NELFE CAPOS syndrome Autosomal dominant 182350 601338 19 NA ERF|PE2|CRS4 ERF,ETF1|ERF|NA ETF1,ERF Craniosynostosis 4 Autosomal dominant 611888 600775 19 NA MEGF8|EGFL4|CRPT2 MEGF8|MEGF8|NA MEGF8 Carpenter syndrome 2 Autosomal recessive 604267 614976 19 NA LIPE|LHS|FPLD6 LIPE|NA|NA LIPE Lipodystrophy, familial partial, type 6 Autosomal recessive 151750 615980 19 NA @@ -5492,44 +5550,44 @@ BCL3 BCL3 BCL3 Leukemia/lymphoma, B-cell, 3 None 109560 109560 19 NA LU|AU|BCAM BCAM|HR|BCAM,BCAT2 HR,BCAM,BCAT2 Blood group, Lutheran system None 612773 111200 19 linked to SE LU|AU|BCAM BCAM|HR|BCAM,BCAT2 HR,BCAM,BCAT2 Blood group, Lutheran null Autosomal recessive 612773 247420 19 linked to SE LU|AU|BCAM BCAM|HR|BCAM,BCAT2 HR,BCAM,BCAT2 Blood group, Auberger system None 612773 111200 19 linked to SE -APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE ?Macular degeneration, age-related Autosomal dominant 107741 603075 19 possible 2nd locus for AD2 on chr.19 APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE Sea-blue histiocyte disease Autosomal recessive 107741 269600 19 possible 2nd locus for AD2 on chr.19 APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE Lipoprotein glomerulopathy None 107741 611771 19 possible 2nd locus for AD2 on chr.19 APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE Hyperlipoproteinemia, type III None 107741 NA 19 possible 2nd locus for AD2 on chr.19 APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE Alzheimer disease-2 Autosomal dominant 107741 104310 19 possible 2nd locus for AD2 on chr.19 APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE Myocardial infarction susceptibility None 107741 NA 19 possible 2nd locus for AD2 on chr.19 +APOE|AD2|LPG|LDLCQ5 APOE|APOE|NA|NA APOE ?Macular degeneration, age-related Autosomal dominant 107741 603075 19 possible 2nd locus for AD2 on chr.19 APOC2 APOC2 APOC2 Hyperlipoproteinemia, type Ib Autosomal recessive 608083 207750 19 NA BLOC1S3|BLOS3|HPS8 BLOC1S3|BLOC1S3|BLOC1S3 BLOC1S3 Hermansky-Pudlak syndrome 8 None 609762 614077 19 NA +ERCC2|EM9|XPD|COFS2|TTD1 ERCC2|ERCC2|ERCC2|NA|NA ERCC2 Cerebrooculofacioskeletal syndrome 2 None 126340 610756 19 < 250kb from ERCC1 ERCC2|EM9|XPD|COFS2|TTD1 ERCC2|ERCC2|ERCC2|NA|NA ERCC2 Xeroderma pigmentosum, group D Autosomal recessive 126340 278730 19 < 250kb from ERCC1 ERCC2|EM9|XPD|COFS2|TTD1 ERCC2|ERCC2|ERCC2|NA|NA ERCC2 Trichothiodystrophy 1, photosensitive Autosomal recessive 126340 601675 19 < 250kb from ERCC1 -ERCC2|EM9|XPD|COFS2|TTD1 ERCC2|ERCC2|ERCC2|NA|NA ERCC2 Cerebrooculofacioskeletal syndrome 2 None 126340 610756 19 < 250kb from ERCC1 ERCC1|UV20|COFS4 ERCC1|NA|NA ERCC1 Cerebrooculofacioskeletal syndrome 4 Autosomal recessive 126380 610758 19 distal to CKM RTN2|NSPL1|SPG12 RTN2|RTN2|RTN2 RTN2 Spastic paraplegia 12, autosomal dominant Autosomal dominant 603183 604805 19 NA -OPA3|MGA3 OPA3|OPA3 OPA3 Optic atrophy 3 with cataract Autosomal dominant 606580 165300 19 NA OPA3|MGA3 OPA3|OPA3 OPA3 3-methylglutaconic aciduria, type III Autosomal recessive 606580 258501 19 NA +OPA3|MGA3 OPA3|OPA3 OPA3 Optic atrophy 3 with cataract Autosomal dominant 606580 165300 19 NA GIPR|PGQTL2 GIPR|NA GIPR Plasma glucose, 2-hour, QTL 2 None 137241 137241 19 NA SIX5|DMAHP|BOR2 SIX5|SIX5|NA SIX5 Branchiootorenal syndrome 2 None 600963 610896 19 NA DMPK|DM|DMK DMPK|DMPK|DMPK DMPK Myotonic dystrophy 1 Autosomal dominant 605377 160900 19 distal to APOLP2; distal to CKM CCDC8|3M3 CCDC8|CCDC8 CCDC8 3-M syndrome 3 Autosomal recessive 614145 614205 19 NA +FKRP|MDC1C|LGMD2I|MDDGA5|MDDGB5|MDDGC5 FKRP|FKRP|FKRP|NA|NA|NA FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Autosomal recessive 606596 613153 19 NA FKRP|MDC1C|LGMD2I|MDDGA5|MDDGB5|MDDGC5 FKRP|FKRP|FKRP|NA|NA|NA FKRP Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 Autosomal recessive 606596 607155 19 NA FKRP|MDC1C|LGMD2I|MDDGA5|MDDGB5|MDDGC5 FKRP|FKRP|FKRP|NA|NA|NA FKRP Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Autosomal recessive 606596 606612 19 NA -FKRP|MDC1C|LGMD2I|MDDGA5|MDDGB5|MDDGC5 FKRP|FKRP|FKRP|NA|NA|NA FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Autosomal recessive 606596 613153 19 NA AP2S1|CLAPS2|AP17|HHC3 AP2S1|AP2S1|NA|AP2S1 AP2S1 Hypocalciuric hypercalcemia, familial, type III Autosomal dominant 602242 600740 19 NA KPTN|2E4|MRT41 KPTN|KPTN|NA KPTN Mental retardation, autosomal recessive 41 Autosomal recessive 615620 615637 19 NA CRX|CORD2|CRD|LCA7 CRX|CRX|CRX,RPGR|CRX RPGR,CRX Leber congenital amaurosis 7 None 602225 613829 19 NA CRX|CORD2|CRD|LCA7 CRX|CRX|CRX,RPGR|CRX RPGR,CRX Cone-rod retinal dystrophy-2 Autosomal dominant 602225 120970 19 NA LIG1 LIG1,LRIG1 LIG1,LRIG1 DNA ligase I deficiency None 126391 NA 19 NA CCDC114|CILD20 CCDC114|CCDC114 CCDC114 Ciliary dyskinesia, primary, 20 Autosomal recessive 615038 615067 19 NA -FUT2|SE|B12QTL1 FUT2|FUT2|NA FUT2 Norwalk virus infection, resistance to None 182100 NA 19 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 FUT2|SE|B12QTL1 FUT2|FUT2|NA FUT2 Bombay phenotype None 182100 NA 19 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 FUT2|SE|B12QTL1 FUT2|FUT2|NA FUT2 Vitamin B12 plasma level QTL1 None 182100 612542 19 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 +FUT2|SE|B12QTL1 FUT2|FUT2|NA FUT2 Norwalk virus infection, resistance to None 182100 NA 19 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 FUT1|H|HH FUT1|FUT1|NA FUT1 Bombay phenotype Autosomal recessive 211100 616754 19 SE tightly linked BCAT2|BCT2 BCAT2|BCAT2 BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia None 113530 NA 19 NA BAX BAX BAX T-cell acute lymphoblastic leukemia, somatic None 600040 613065 19 NA BAX BAX BAX Colorectal cancer, somatic None 600040 114500 19 NA -FTL|NBIA3|LFTD FTL|FTL|NA FTL Neurodegeneration with brain iron accumulation 3 Autosomal dominant 134790 606159 19 NA FTL|NBIA3|LFTD FTL|FTL|NA FTL L-ferritin deficiency, dominant and recessive Autosomal dominant; Autosomal recessive 134790 615604 19 NA FTL|NBIA3|LFTD FTL|FTL|NA FTL Hyperferritinemia-cataract syndrome Autosomal dominant 134790 600886 19 NA +FTL|NBIA3|LFTD FTL|FTL|NA FTL Neurodegeneration with brain iron accumulation 3 Autosomal dominant 134790 606159 19 NA GYS1|GYS GYS1|GYS1 GYS1 Glycogen storage disease 0, muscle Autosomal recessive 138570 611556 19 NA LHB|HH23 LHB|NA LHB Hypogonadotropic hypogonadism 23 with or without anosmia Autosomal recessive 152780 228300 19 beta chains of FSH, TSH on 11p, 1p, respectively NTF4|NTF5|NT5|NT4|GLC1O NTF4|NTF4|NT5E|NA|NTF4 NT5E,NTF4 Glaucoma 1, open angle, 1O None 162662 613100 19 3 genes, ? functional, also on 19 @@ -5537,10 +5595,10 @@ TRPM4|PFHB1B TRPM4|NA TRPM4 Progressive familial heart block, type IB Autosomal IRF3|IIAE7 IRF3|NA IRF3 ?Herpes simplex encephalitis, susceptibility to, 7 Autosomal dominant 603734 616532 19 mutation identified in one IIAE7 patient CPT1C|SPG73 CPT1C|NA CPT1C ?Spastic paraplegia 73, autosomal dominant Autosomal dominant 608846 616282 19 mutation identified in 1 SPG73 family FUZ|NTD FUZ|NA FUZ Neural tube defects Autosomal dominant 610622 182940 19 NA -MED25|PTOV2|ARC92|CMT2B2|BVSYS MED9,MED25|NA|MED25|NA|NA MED9,MED25 Basel-Vanagait-Smirin-Yosef syndrome Autosomal recessive 610197 616449 19 mutation identified in 1 CMT2B2 family MED25|PTOV2|ARC92|CMT2B2|BVSYS MED9,MED25|NA|MED25|NA|NA MED9,MED25 ?Charcot-Marie-Tooth disease, type 2B2 Autosomal recessive 610197 605589 19 mutation identified in 1 CMT2B2 family -PNKP|PNK|MCSZ|EIEE10|MCSZ|AOA4 PNKP|PDXK,PNKP|NA|NA|NA|NA PDXK,PNKP Ataxia-oculomotor apraxia 4 Autosomal recessive 605610 616267 19 NA +MED25|PTOV2|ARC92|CMT2B2|BVSYS MED9,MED25|NA|MED25|NA|NA MED9,MED25 Basel-Vanagait-Smirin-Yosef syndrome Autosomal recessive 610197 616449 19 mutation identified in 1 CMT2B2 family PNKP|PNK|MCSZ|EIEE10|MCSZ|AOA4 PNKP|PDXK,PNKP|NA|NA|NA|NA PDXK,PNKP Microcephaly, seizures, and developmental delay Autosomal recessive 605610 613402 19 NA +PNKP|PNK|MCSZ|EIEE10|MCSZ|AOA4 PNKP|PDXK,PNKP|NA|NA|NA|NA PDXK,PNKP Ataxia-oculomotor apraxia 4 Autosomal recessive 605610 616267 19 NA NUP62|SNDI|IBSN NUP62|NUP62|NUP62 NUP62 Striatonigral degeneration, infantile Autosomal recessive 605815 271930 19 NA MYH14|KIAA2034|DFNA4A|PNMHH MYH7B,MYH14|MYH14|NA|NA MYH14,MYH7B Deafness, autosomal dominant 4A Autosomal dominant 608568 600652 19 mutation identified in 1 PNMHH family MYH14|KIAA2034|DFNA4A|PNMHH MYH7B,MYH14|MYH14|NA|NA MYH14,MYH7B ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss Autosomal dominant 608568 614369 19 mutation identified in 1 PNMHH family @@ -5555,21 +5613,22 @@ PPP2R1A|MRD36 PPP2R1A|NA PPP2R1A Mental retardation, autosomal dominant 36 Autos NLRP12|NALP12|PYPAF7|RNO|FCAS2 NLRP12|NLRP12|NLRP12|NA|NA NLRP12 Familial cold autoinflammatory syndrome 2 Autosomal dominant 609648 611762 19 NA PRKCG|PKCC|PKCG|SCA14 PRKCG|PRKCG|PRKCG|PRKCG PRKCG Spinocerebellar ataxia 14 Autosomal dominant 176980 605361 19 NA PRPF31|PRP31|RP11 PRPF31|PRPF31|PRPF31 PRPF31 Retinitis pigmentosa 11 Autosomal dominant 606419 600138 19 NA -TSEN34|PCH2C|LENG5|SEN34 TSEN34|NA|TSEN34|TSEN34 TSEN34 Pontocerebellar hypoplasia type 2C None 608754 612390 19 NA +TSEN34|PCH2C|LENG5|SEN34 TSEN34|NA|TSEN34|TSEN34 TSEN34 ?Pontocerebellar hypoplasia type 2C None 608754 612390 19 mutation identified in 1 PCH2C patient KIR3DL1|NKAT3|NKB1|AMB11|KIR3DS1 KIR3DL1|NA|KIR3DL1|KIR3DL1|NA KIR3DL1 AIDS, delayed/rapid progression to None 604946 609423 19 NA NALP7|NOD12|PYPAF3|HYDM NLRP7|NLRP7|NLRP7|NA NLRP7 Hydatidiform mole, recurrent, 1 Autosomal recessive 609661 231090 19 NA GP6|GPIV|BDPLT11 GP6|CD36|NA GP6,CD36 Bleeding disorder, platelet-type, 11 Autosomal recessive 605546 614201 19 NA TNNT1|ANM|NEM5 TNNT1|TNNT1|TNNT1 TNNT1 Nemaline myopathy 5, Amish type Autosomal recessive 191041 605355 19 NA +TNNI3|CMH7|CMD2A|RCM1|CMD1FF TNNI3|TNNI3|TNNI3|NA|NA TNNI3 ?Cardiomyopathy, dilated, 2A Autosomal recessive 191044 611880 19 mutation identified in 1 CMD2A family TNNI3|CMH7|CMD2A|RCM1|CMD1FF TNNI3|TNNI3|TNNI3|NA|NA TNNI3 Cardiomyopathy, hypertrophic, 7 Autosomal dominant 191044 613690 19 mutation identified in 1 CMD2A family TNNI3|CMH7|CMD2A|RCM1|CMD1FF TNNI3|TNNI3|TNNI3|NA|NA TNNI3 Cardiomyopathy, familial restrictive, 1 Autosomal dominant 191044 115210 19 mutation identified in 1 CMD2A family TNNI3|CMH7|CMD2A|RCM1|CMD1FF TNNI3|TNNI3|TNNI3|NA|NA TNNI3 Cardiomyopathy, dilated, 1FF None 191044 613286 19 mutation identified in 1 CMD2A family -TNNI3|CMH7|CMD2A|RCM1|CMD1FF TNNI3|TNNI3|TNNI3|NA|NA TNNI3 ?Cardiomyopathy, dilated, 2A Autosomal recessive 191044 611880 19 mutation identified in 1 CMD2A family DNAAF3|PF22|DAB1|CILD2 DNAAF3|DNAAF3|DAB1|DNAAF3 DAB1,DNAAF3 Ciliary dyskinesia, primary, 2 Autosomal recessive 614566 606763 19 NA AURKC|STK13|AIE2|SPGF5 AURKC|AURKC|NA|NA AURKC Spermatogenic failure 5 Autosomal recessive 603495 243060 19 NA ALS7 ALS7 ALS7 Amyotrophic lateral sclerosis 7 None 608031 608031 20 max lod at D20S103 BMIQ6 BMIQ6 BMIQ6 Body mass index QTL6 None 608559 608559 20 near D20S482 and D20S851 RBCK1|HOIL1|PGBM1|PBMEI RBCK1|RBCK1|NA|NA RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency Autosomal recessive 610924 615895 20 NA TBC1D20|C20orf140|WARBM4 TBC1D20|TBC1D20|NA TBC1D20 Warburg micro syndrome 4 Autosomal recessive 611663 615663 20 NA +CSNK2A1|CK2A1|OCNDS CSNK2A1,CSNK2A2|NA|NA CSNK2A2,CSNK2A1 Okur-Chung neurodevelopmental syndrome Autosomal dominant 115440 617062 20 pseudogene on 11p15 SLC52A3|C20orf54|RFT2|BVVLS1 SLC52A3|SLC52A3|NA|NA SLC52A3 Fazio-Londe disease Autosomal recessive 613350 211500 20 NA SLC52A3|C20orf54|RFT2|BVVLS1 SLC52A3|SLC52A3|NA|NA SLC52A3 Brown-Vialetto-Van Laere syndrome 1 Autosomal recessive 613350 211530 20 NA RSPO4|CRISTIN4 RSPO4|NA RSPO4 Anonychia congenita Autosomal recessive 610573 206800 20 NA @@ -5586,13 +5645,13 @@ SLC4A11|BTR1|NABC1|CHED|CDPD|FECD4 SLC4A11|SLC4A11|BCAS1|CHED1,CDK13|NA|SLC4A11 SLC4A11|BTR1|NABC1|CHED|CDPD|FECD4 SLC4A11|SLC4A11|BCAS1|CHED1,CDK13|NA|SLC4A11 SLC4A11,CDK13,CHED1,BCAS1 Corneal dystrophy, Fuchs endothelial, 4 None 610206 613268 20 NA PANK2|NBIA1|PKAN|HARP PANK2|PANK2|PANK2|ANGPTL2,ANKS4B,PANK2,SMARCAL1 SMARCAL1,PANK2,ANGPTL2,ANKS4B Neurodegeneration with brain iron accumulation 1 Autosomal recessive 606157 234200 20 NA PANK2|NBIA1|PKAN|HARP PANK2|PANK2|PANK2|ANGPTL2,ANKS4B,PANK2,SMARCAL1 SMARCAL1,PANK2,ANGPTL2,ANKS4B HARP syndrome Autosomal recessive 606157 607236 20 NA -PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Insomnia, fatal familial Autosomal dominant 176640 600072 20 pter-PRNP-SCG1-BMP2A-PAX1-cen -PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Huntington disease-like 1 Autosomal dominant 176640 603218 20 pter-PRNP-SCG1-BMP2A-PAX1-cen PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Gerstmann-Straussler disease Autosomal dominant 176640 137440 20 pter-PRNP-SCG1-BMP2A-PAX1-cen PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Creutzfeldt-Jakob disease Autosomal dominant 176640 123400 20 pter-PRNP-SCG1-BMP2A-PAX1-cen PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Kuru, susceptibility to None 176640 245300 20 pter-PRNP-SCG1-BMP2A-PAX1-cen PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Cerebral amyloid angiopathy, PRNP-related Autosomal dominant 176640 137440 20 pter-PRNP-SCG1-BMP2A-PAX1-cen PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Prion disease with protracted course Autosomal dominant 176640 606688 20 pter-PRNP-SCG1-BMP2A-PAX1-cen +PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Insomnia, fatal familial Autosomal dominant 176640 600072 20 pter-PRNP-SCG1-BMP2A-PAX1-cen +PRNP|PRIP|KURU|CJD PRNP|NCOA6,PLCL1,PRNP|NA|PRNP NCOA6,PRNP,PLCL1 Huntington disease-like 1 Autosomal dominant 176640 603218 20 pter-PRNP-SCG1-BMP2A-PAX1-cen GLC1K|JOAG3 GLC1K|GLC1K GLC1K Glaucoma 1K, primary open angle, juvenile-onset None 608696 608696 20 between D20S189 and D20S104 PCNA|ATLD2 PCNA|NA PCNA ?Ataxia-telangiectasia-like disorder Autosomal recessive 176740 615919 20 pseudogenes on X and 6; mutation identified in one ATLD2 family PROKR2|PKR2|GPR73L1|HH3 PROKR2|PROKR2|PROKR2|NA PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia Autosomal dominant 607123 244200 20 NA @@ -5603,12 +5662,12 @@ BMP2|BMP2A|BDA2 BMP2|BMP2|NA BMP2 Brachydactyly, type A2 Autosomal dominant 1122 PLCB1|KIAA0581|PLCB1A|PLCB1B|EIEE12 PLCB1|PLCB1|NA|NA|NA PLCB1 Epileptic encephalopathy, early infantile, 12 Autosomal recessive 607120 613722 20 NA PLCB4|ARCND2 PLCB4|NA PLCB4 Auriculocondylar syndrome 2 Autosomal dominant; Autosomal recessive 600810 614669 20 NA SNAP25|CMS18 SNAP25|NA SNAP25 ?Myasthenic syndrome, congenital, 18 Autosomal dominant 600322 616330 20 mutation identified in 1 CMS18 patient -MKKS|HMCS|KMS|MKS|BBS6 MKKS|MOCOS|KMS|MKS1|MKKS MKS1,KMS,MKKS,MOCOS McKusick-Kaufman syndrome Autosomal recessive 604896 236700 20 NA MKKS|HMCS|KMS|MKS|BBS6 MKKS|MOCOS|KMS|MKS1|MKKS MKS1,KMS,MKKS,MOCOS Bardet-Biedl syndrome 6 Autosomal recessive 604896 605231 20 NA -JAG1|AGS|AHD JAG1|JAG1|JAG1 JAG1 Tetralogy of Fallot Autosomal dominant 601920 187500 20 mutation identified in 1 DFNCDPE family -JAG1|AGS|AHD JAG1|JAG1|JAG1 JAG1 Alagille syndrome Autosomal dominant 601920 118450 20 mutation identified in 1 DFNCDPE family -JAG1|AGS|AHD JAG1|JAG1|JAG1 JAG1 ?Deafness, congenital heart defects, and posterior embryotoxon None 601920 NA 20 mutation identified in 1 DFNCDPE family -NDUFAF5|C20orf7 NDUFAF5|NDUFAF5 NDUFAF5 Mitochondrial complex 1 deficiency Mitochondrial; Autosomal recessive; X-linked dominant 612360 252010 20 NA +MKKS|HMCS|KMS|MKS|BBS6 MKKS|MOCOS|KMS|MKS1|MKKS MKS1,KMS,MKKS,MOCOS McKusick-Kaufman syndrome Autosomal recessive 604896 236700 20 NA +JAG1|AGS1|AHD JAG1|RASD1,TREX1|JAG1 JAG1,TREX1,RASD1 Alagille syndrome 1 Autosomal dominant 601920 118450 20 mutation identified in 1 DFNCDPE family +JAG1|AGS1|AHD JAG1|RASD1,TREX1|JAG1 JAG1,TREX1,RASD1 ?Deafness, congenital heart defects, and posterior embryotoxon None 601920 NA 20 mutation identified in 1 DFNCDPE family +JAG1|AGS1|AHD JAG1|RASD1,TREX1|JAG1 JAG1,TREX1,RASD1 Tetralogy of Fallot Autosomal dominant 601920 187500 20 mutation identified in 1 DFNCDPE family +NDUFAF5|C20orf7 NDUFAF5|NDUFAF5 NDUFAF5 Mitochondrial complex 1 deficiency Mitochondrial; X-linked dominant; Autosomal recessive 612360 252010 20 NA FLRT3|HH21 FLRT3|NA FLRT3 Hypogonadotropic hypogonadism 21 with anosmia Autosomal dominant 604808 615271 20 NA BFSP1|CP115|CTRCT33 BFSP1|BFSP1|NA BFSP1 Cataract 33 None 603307 611391 20 NA DYT17 DYT17 DYT17 Dystonia-17, primary torsion Autosomal recessive 612406 612406 20 between D20S472 and D20S911 @@ -5635,48 +5694,51 @@ ASXL1|KIAA0978|BOPS|MDS ASXL1|ASXL1|NA|PAFAH1B1 ASXL1,PAFAH1B1 Bohring-Opitz syn DNMT3B|ICF1 DNMT3B|NA DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Autosomal recessive 602900 242860 20 NA SNTA1|SNT1|TACIP1|LQT12 SNTA1|FRS2,SNTA1|SNTA1|SNTA1 SNTA1,FRS2 Long QT syndrome 12 Autosomal dominant 601017 612955 20 NA CHMP4B|SNF7|CTPP3|CTRCT31 CHMP4B|NA|NA|NA CHMP4B Cataract 31, multiple types None 610897 605387 20 NA -ASIP|AGTIL|SHEP9 ASIP,PARD3|ASIP|NA PARD3,ASIP Skin/hair/eye pigmentation 9, brown/nonbrown eyes None 600201 611742 20 NA ASIP|AGTIL|SHEP9 ASIP,PARD3|ASIP|NA PARD3,ASIP Skin/hair/eye pigmentation 9, dark/light hair None 600201 611742 20 NA +ASIP|AGTIL|SHEP9 ASIP,PARD3|ASIP|NA PARD3,ASIP Skin/hair/eye pigmentation 9, brown/nonbrown eyes None 600201 611742 20 NA AHCY|SAHH AHCY|AHCY AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Autosomal recessive 180960 613752 20 ~13cM from ADA ITCH|AIP4|NAPP1|ADMFD ITCH|ITCH|NA|NA ITCH Autoimmune disease, multisystem, with facial dysmorphism Autosomal recessive 606409 613385 20 NA GSS|GSHS GSS,PRNP|NA GSS,PRNP Hemolytic anemia due to glutathione synthetase deficiency Autosomal recessive 601002 231900 20 NA GSS|GSHS GSS,PRNP|NA GSS,PRNP Glutathione synthetase deficiency Autosomal recessive 601002 266130 20 NA +GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Multiple synostoses syndrome 2 Autosomal dominant 601146 610017 20 mutation identified in 1 AMDHT family +GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 ?Acromesomelic dysplasia, Hunter-Thompson type Autosomal recessive 601146 201250 20 mutation identified in 1 AMDHT family +GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Du Pan syndrome Autosomal recessive 601146 228900 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Chondrodysplasia, Grebe type Autosomal recessive 601146 200700 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Brachydactyly, type C Autosomal dominant 601146 113100 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Osteoarthritis-5 None 601146 612400 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Brachydactyly, type A2 Autosomal dominant 601146 112600 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Symphalangism, proximal, 1B None 601146 615298 20 mutation identified in 1 AMDHT family GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Brachydactyly, type A1, C Autosomal dominant; Autosomal recessive 601146 615072 20 mutation identified in 1 AMDHT family -GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Multiple synostoses syndrome 2 None 601146 610017 20 mutation identified in 1 AMDHT family -GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 ?Acromesomelic dysplasia, Hunter-Thompson type Autosomal recessive 601146 201250 20 mutation identified in 1 AMDHT family -GDF5|CDMP1|SYNS2|OS5|BDA1C|SYM1B GDF5|GDF5|NA|NA|NA|NA GDF5 Du Pan syndrome Autosomal recessive 601146 228900 20 mutation identified in 1 AMDHT family EPB41L1|MRD11 EPB41L1|NA EPB41L1 ?Mental retardation, autosomal dominant 11 None 602879 614257 20 mutation identified in 1 patient -SAMHD1|AGS5|DCIP|CHBL2 SAMHD1|SAMHD1|NA|NA SAMHD1 Aicardi-Goutieres syndrome 5 None 606754 612952 20 mutation identified in 1 CHBL2 family SAMHD1|AGS5|DCIP|CHBL2 SAMHD1|SAMHD1|NA|NA SAMHD1 ?Chilblain lupus 2 Autosomal dominant 606754 614415 20 mutation identified in 1 CHBL2 family +SAMHD1|AGS5|DCIP|CHBL2 SAMHD1|SAMHD1|NA|NA SAMHD1 Aicardi-Goutieres syndrome 5 Autosomal recessive 606754 612952 20 mutation identified in 1 CHBL2 family GHRH|GHRF GHRH|GHRH GHRH Gigantism due to GHRF hypersecretion None 139190 NA 20 NA GHRH|GHRF GHRH|GHRH GHRH ?Isolated growth hormone deficiency due to defect in GHRF None 139190 NA 20 NA -SRC|ASV|SRC1|THC6 SRC|SRC|NCOA1,SRC|NA SRC,NCOA1 Colon cancer, advanced, somatic None 190090 114500 20 mutation identified in 1 THC6 family SRC|ASV|SRC1|THC6 SRC|SRC|NCOA1,SRC|NA SRC,NCOA1 ?Thrombocytopenia 6 Autosomal dominant 190090 616937 20 mutation identified in 1 THC6 family -MAFB|KRML|MCTO MAFB|MAFB|NA MAFB Multicentric carpotarsal osteolysis syndrome Autosomal dominant 608968 166300 20 NA +SRC|ASV|SRC1|THC6 SRC|SRC|NCOA1,SRC|NA SRC,NCOA1 Colon cancer, advanced, somatic None 190090 114500 20 mutation identified in 1 THC6 family +MAFB|KRML|MCTO|DURS3 MAFB|MAFB|NA|NA MAFB Duane retraction syndrome 3 Autosomal dominant 608968 617041 20 NA +MAFB|KRML|MCTO|DURS3 MAFB|MAFB|NA|NA MAFB Multicentric carpotarsal osteolysis syndrome Autosomal dominant 608968 166300 20 NA TOP1 TOP1 TOP1 DNA topoisomerase I, camptothecin-resistant None 126420 NA 20 pseudogenes on chr.1 and 22 HPC3 CBX8 CBX8 Prostate cancer, susceptibility to, 3 Autosomal dominant 608656 176807 20 NA PSORS12 RNF114 RNF114 Psoriasis susceptibility 12 None 612950 612950 20 associated with rs495337 +IFT52 IFT52 IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly Autosomal recessive 617094 617102 20 NA JPH2|JP2|CMH17 JPH2|TRGJP2|NA JPH2,TRGJP2 Cardiomyopathy, hypertrophic, 17 Autosomal dominant 605267 613873 20 NA +HNF4A|TCF14|MODY1|FRTS4 HNF4A|HNF4A|HNF4A|NA HNF4A Diabetes mellitus, noninsulin-dependent Autosomal dominant 600281 125853 20 NA HNF4A|TCF14|MODY1|FRTS4 HNF4A|HNF4A|HNF4A|NA HNF4A MODY, type I Autosomal dominant 600281 125850 20 NA HNF4A|TCF14|MODY1|FRTS4 HNF4A|HNF4A|HNF4A|NA HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young Autosomal dominant 600281 616026 20 NA -HNF4A|TCF14|MODY1|FRTS4 HNF4A|HNF4A|HNF4A|NA HNF4A Diabetes mellitus, noninsulin-dependent Autosomal dominant 600281 125853 20 NA -ADA ADA ADA Adenosine deaminase deficiency, partial Somatic mosaicism; Autosomal recessive 608958 102700 20 NA ADA ADA ADA Severe combined immunodeficiency due to ADA deficiency Somatic mosaicism; Autosomal recessive 608958 102700 20 NA +ADA ADA ADA Adenosine deaminase deficiency, partial Somatic mosaicism; Autosomal recessive 608958 102700 20 NA STK4|MST1|KRS2|TIIAC STK4|MST1,STK4|STK4|NA STK4,MST1 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations None 604965 614868 20 NA PIGT|NDAP|PNH2|MCAHS3 PIGT|NA|NA|NA PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 Autosomal recessive 610272 615398 20 mutation identified in 1 PNH2 family -PIGT|NDAP|PNH2|MCAHS3 PIGT|NA|NA|NA PIGT ?Paroxysmal nocturnal hemoglobinuria 2 Autosomal dominant; Somatic mutation 610272 615399 20 mutation identified in 1 PNH2 family +PIGT|NDAP|PNH2|MCAHS3 PIGT|NA|NA|NA PIGT ?Paroxysmal nocturnal hemoglobinuria 2 Somatic mutation; Autosomal dominant 610272 615399 20 mutation identified in 1 PNH2 family CTSA|PPGB|GSL|NGBE|GLB2 CTSA|CTSA|CTSA|NA|NA CTSA Galactosialidosis Autosomal recessive 613111 256540 20 NA PLTP|HDLCQ9 PLTP|NA PLTP High density lipoprotein cholesterol level QTL 9 None 172425 NA 20 NA ZNF335|NIF1|NIF2|MCPH10 ZNF335|NA|NA|NA ZNF335 ?Microcephaly 10, primary, autosomal recessive Autosomal recessive 610827 615095 20 mutation identified in 1 MCPH10 family MMP9|CLG4B|MANDP2 MMP9|MMP9|NA MMP9 Metaphyseal anadysplasia 2 None 120361 613073 20 NA -SLC12A5|KCC2|KIAA1176|EIEE34|EIG14 SLC12A5|SLC12A5|SLC12A5|NA|NA SLC12A5 Epileptic encephalopathy, early infantile, 34 Autosomal recessive 606726 616645 20 NA SLC12A5|KCC2|KIAA1176|EIEE34|EIG14 SLC12A5|SLC12A5|SLC12A5|NA|NA SLC12A5 Epilepsy, idiopathic generalized, susceptibility to, 14 Autosomal dominant 606726 616685 20 NA +SLC12A5|KCC2|KIAA1176|EIEE34|EIG14 SLC12A5|SLC12A5|SLC12A5|NA|NA SLC12A5 Epileptic encephalopathy, early infantile, 34 Autosomal recessive 606726 616645 20 NA CD40|TNFRSF5 CD40|CD40 CD40 Immunodeficiency with hyper-IgM, type 3 Autosomal recessive 109535 606843 20 NA +ELMO2|CED12|VMPI ELMO2|ELMO1,ELMO2,ELMO3|NA ELMO1,ELMO2,ELMO3 Vascular malformation, primary intraosseous Autosomal recessive 606421 606893 20 NA SLC2A10|GLUT10|ATS SLC2A10|SLC2A10,SLC2A11|COL4A5 COL4A5,SLC2A11,SLC2A10 Arterial tortuosity syndrome Autosomal recessive 606145 208050 20 NA ARFGEF2|BIG2|PVNH2 ARFGEF2|ARFGEF2|NA ARFGEF2 Periventricular heterotopia with microcephaly Autosomal recessive 605371 608097 20 NA KCNB1|EIEE26 KCNB1|NA KCNB1 Epileptic encephalopathy, early infantile, 26 Autosomal dominant 600397 616056 20 NA @@ -5696,14 +5758,14 @@ VAPB|VAPC|ALS8 VAPB|NA|VAPB VAPB Spinal muscular atrophy, late-onset, Finkel typ VAPB|VAPC|ALS8 VAPB|NA|VAPB VAPB Amyotrophic lateral sclerosis 8 Autosomal dominant 605704 608627 20 NA STX16|SYN16 STX16|STX16 STX16 Pseudohypoparathyroidism, type IB Autosomal dominant 603666 603233 20 NA GNASAS1|GNASAS|SANG|NESPAS NA|GNAS-AS1|GNAS-AS1|GNAS-AS1 GNAS-AS1 Pseudohypoparathyroidism, type IB Autosomal dominant 610540 603233 20 NA -GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudopseudohypoparathyroidism Autosomal dominant 139320 612463 20 NA -GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS ACTH-independent macronodular adrenal hyperplasia Isolated cases 139320 219080 20 NA -GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudohypoparathyroidism Ic Autosomal dominant 139320 612462 20 NA GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Acromegaly, somatic None 139320 102200 20 NA GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudohypoparathyroidism Ib Autosomal dominant 139320 603233 20 NA GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudohypoparathyroidism Ia Autosomal dominant 139320 103580 20 NA GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Osseous heteroplasia, progressive Autosomal dominant 139320 166350 20 NA GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS McCune-Albright syndrome, somatic, mosaic None 139320 174800 20 NA +GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudopseudohypoparathyroidism Autosomal dominant 139320 612463 20 NA +GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS ACTH-independent macronodular adrenal hyperplasia Isolated cases 139320 219080 20 NA +GNAS|GNAS1|GPSA|POH|PHP1B|PHP1A|AHO|PHP1C GNAS|GNAS|GNAS|NA|NA|NA|NA|NA GNAS Pseudohypoparathyroidism Ic Autosomal dominant 139320 612462 20 NA TUBB1 TUBB1 TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related Autosomal dominant 612901 613112 20 NA ATP5E|MC5DN3 ATP5E|NA ATP5E ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 None 606153 614053 20 pseudogene on 4q25; mutation identified in 1 MC5DN3 patient EDN3|WS4B|HSCR4 EDN3|NA|NA EDN3 Hirschsprung disease, susceptibility to, 4 None 131242 613712 20 NA @@ -5718,11 +5780,11 @@ CHRNA4|ENFL1 CHRNA4|NA CHRNA4 Epilepsy, nocturnal frontal lobe, 1 Autosomal domi KCNQ2|EBN1|EIEE7|BFNS1 KCNQ2|CHRNA4,KCNQ2|NA|NA CHRNA4,KCNQ2 Seizures, benign neonatal, 1 Autosomal dominant 602235 121200 20 NA KCNQ2|EBN1|EIEE7|BFNS1 KCNQ2|CHRNA4,KCNQ2|NA|NA CHRNA4,KCNQ2 Myokymia Autosomal dominant 602235 121200 20 NA KCNQ2|EBN1|EIEE7|BFNS1 KCNQ2|CHRNA4,KCNQ2|NA|NA CHRNA4,KCNQ2 Epileptic encephalopathy, early infantile, 7 Autosomal dominant 602235 613720 20 NA -EEF1A2|EIEE33|MRD38 EEF1A2|NA|NA EEF1A2 Mental retardation, autosomal dominant 38 Autosomal dominant 602959 616393 20 NA EEF1A2|EIEE33|MRD38 EEF1A2|NA|NA EEF1A2 Epileptic encephalopathy, early infantile, 33 Autosomal dominant 602959 616409 20 NA -RTEL1|C20orf41|NHL|KIAA1088|DKCB5|DKCA4|PFBMFT3 RTEL1|RTEL1|RTEL1|RTEL1|NA|NA|NA RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Autosomal dominant 608833 616373 20 NA +EEF1A2|EIEE33|MRD38 EEF1A2|NA|NA EEF1A2 Mental retardation, autosomal dominant 38 Autosomal dominant 602959 616393 20 NA RTEL1|C20orf41|NHL|KIAA1088|DKCB5|DKCA4|PFBMFT3 RTEL1|RTEL1|RTEL1|RTEL1|NA|NA|NA RTEL1 Dyskeratosis congenita, autosomal recessive 5 Autosomal dominant; Autosomal recessive 608833 615190 20 NA RTEL1|C20orf41|NHL|KIAA1088|DKCB5|DKCA4|PFBMFT3 RTEL1|RTEL1|RTEL1|RTEL1|NA|NA|NA RTEL1 Dyskeratosis congenita, autosomal dominant 4 Autosomal dominant; Autosomal recessive 608833 615190 20 NA +RTEL1|C20orf41|NHL|KIAA1088|DKCB5|DKCA4|PFBMFT3 RTEL1|RTEL1|RTEL1|RTEL1|NA|NA|NA RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Autosomal dominant 608833 616373 20 NA DNAJC5|DNAJC5A|CSP|CLN4B DNAJC5|DNAJC5|NA|NA DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type Autosomal dominant 611203 162350 20 NA PRPF6|PRP6|ANT1|TOM|C20orf14 PRPF6|NA|SLC25A4|PRPF6|PRPF6 SLC25A4,PRPF6 Retinitis pigmentosa 60 Autosomal dominant 613979 613983 20 NA SOX18|HLTS|HLTRS SOX18|NA|NA SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Autosomal dominant 601618 137940 20 NA @@ -5745,13 +5807,13 @@ CRFB4|IBD25 IL10RB|NA IL10RB Inflammatory bowel disease 25, early onset, autosom IFNGR2|IFNGT1|IFGR2|IMD28 IFNGR2|IFNGR2|NA|NA IFNGR2 Immunodeficiency 28, mycobacteriosis Autosomal recessive 147569 614889 21 NA KCNE2|MIRP1|LQT6|ATFB4 KCNE2|NA|KCNE2|NA KCNE2 Long QT syndrome 6 Autosomal dominant 603796 613693 21 NA KCNE2|MIRP1|LQT6|ATFB4 KCNE2|NA|KCNE2|NA KCNE2 Atrial fibrillation, familial, 4 None 603796 611493 21 NA -KCNE1|JLNS|LQT5|JLNS2 KCNE1|NA|KCNE1|KCNE1 KCNE1 Jervell and Lange-Nielsen syndrome 2 Autosomal recessive 176261 612347 21 NA KCNE1|JLNS|LQT5|JLNS2 KCNE1|NA|KCNE1|KCNE1 KCNE1 Long QT syndrome 5 Autosomal dominant 176261 613695 21 NA +KCNE1|JLNS|LQT5|JLNS2 KCNE1|NA|KCNE1|KCNE1 KCNE1 Jervell and Lange-Nielsen syndrome 2 Autosomal recessive 176261 612347 21 NA RUNX1|CBFA2|AML1 RUNX1|RUNX1|RUNX1 RUNX1 Platelet disorder, familial, with associated myeloid malignancy Autosomal dominant 151385 601399 21 NA RUNX1|CBFA2|AML1 RUNX1|RUNX1|RUNX1 RUNX1 Leukemia, acute myeloid Autosomal dominant 151385 601626 21 NA CLDN14|DFNB29 CLDN14|CLDN14 CLDN14 Deafness, autosomal recessive 29 Autosomal recessive 605608 614035 21 NA HLCS|HCS HLCS|CYCS,HLCS HLCS,CYCS Holocarboxylase synthetase deficiency Autosomal recessive 609018 253270 21 NA -DYRK1A|MNBH|MNB|MRD7 DYRK1A|DYRK1A|NA|NA DYRK1A Mental retardation, autosomal dominant 7 None 600855 614104 21 ?triplicate state responsible for mental defect in Down syndrome +DYRK1A|MNBH|MNB|MRD7 DYRK1A|DYRK1A|NA|NA DYRK1A Mental retardation, autosomal dominant 7 Autosomal dominant 600855 614104 21 ?triplicate state responsible for mental defect in Down syndrome KCNJ6|GIRK2|KCNJ7|KPLBS KCNJ6|KCNJ6|KCNJ6|NA KCNJ6 Keppen-Lubinsky syndrome Autosomal dominant 600877 614098 21 NA DCR|DSCR DCXR,DCR|DCR DCXR,DCR Down syndrome Isolated cases 190685 190685 21 many genes are involved in this phenotype HPE1 HPE1 HPE1 Holoprosencephaly 1 Autosomal dominant; Isolated cases 236100 236100 21 NA @@ -5770,9 +5832,9 @@ ITGB2|CD18|LCAMB|LAD ITGB2|ITGB2|NA|DLD ITGB2,DLD Leukocyte adhesion deficiency COL18A1|KNO1 COL18A1|COL18A1 COL18A1 Knobloch syndrome, type 1 Autosomal recessive 120328 267750 21 NA COL6A1|BTHLM1|UCHMD1 COL6A1|NA|NA COL6A1 Ullrich congenital muscular dystrophy 1 Autosomal dominant; Autosomal recessive 120220 254090 21 NA COL6A1|BTHLM1|UCHMD1 COL6A1|NA|NA COL6A1 Bethlem myopathy 1 Autosomal dominant; Autosomal recessive 120220 158810 21 NA -COL6A2|BTHLM1|UCMD1 COL6A2|NA|NA COL6A2 Ullrich congenital muscular dystrophy 1 Autosomal dominant; Autosomal recessive 120240 254090 21 mutation identified in 1 MYSCL family COL6A2|BTHLM1|UCMD1 COL6A2|NA|NA COL6A2 Bethlem myopathy 1 Autosomal dominant; Autosomal recessive 120240 158810 21 mutation identified in 1 MYSCL family COL6A2|BTHLM1|UCMD1 COL6A2|NA|NA COL6A2 ?Myosclerosis, congenital Autosomal recessive 120240 255600 21 mutation identified in 1 MYSCL family +COL6A2|BTHLM1|UCMD1 COL6A2|NA|NA COL6A2 Ullrich congenital muscular dystrophy 1 Autosomal dominant; Autosomal recessive 120240 254090 21 mutation identified in 1 MYSCL family FTCD FTCD FTCD Glutamate formiminotransferase deficiency Autosomal recessive 606806 229100 21 NA LSS|OSC|CTRCT44 LSS|LSS|NA LSS Cataract 44 Autosomal recessive 600909 616509 21 NA PCNT|PCNT2|KEN|SCKL4|MOPD2 PCNT|PCNT|PCNT|CENPJ,PCNT|NA PCNT,CENPJ Microcephalic osteodysplastic primordial dwarfism, type II Autosomal recessive 605925 210720 21 NA @@ -5780,8 +5842,8 @@ ACF A1CF A1CF Cayler cardiofacial syndrome Autosomal dominant 125520 125520 22 N CECR|CES CECR|NA CECR Cat eye syndrome Autosomal dominant 115470 115470 22 partial tetrasomy of 22q11 GGT1|GTG GGT1|NA GGT1 Glutathioninuria None 231950 NA 22 minor peak, q13.1 IL17RA|IL17R|CANDF5 IL17RA|IL17RA|NA IL17RA ?Candidiasis, familial, 5, autosomal recessive None 605461 613953 22 mutation identified in 1 CANDF5 family -CECR1|PAN|SNEDS CECR1|NA|NA CECR1 ?Sneddon syndrome Autosomal recessive 607575 182410 22 mutation identified in 1 SNEDS family CECR1|PAN|SNEDS CECR1|NA|NA CECR1 Polyarteritis nodosa, childhood-onset Autosomal recessive 607575 615688 22 mutation identified in 1 SNEDS family +CECR1|PAN|SNEDS CECR1|NA|NA CECR1 ?Sneddon syndrome Autosomal recessive 607575 182410 22 mutation identified in 1 SNEDS family DFNB40 DFNB40 DFNB40 Deafness, autosomal recessive 40 Autosomal recessive 608264 608264 22 NA PEX26|PBD7A|PBD7B PEX26|NA|NA PEX26 Peroxisome biogenesis disorder 7B None 608666 614873 22 NA PEX26|PBD7A|PBD7B PEX26|NA|NA PEX26 Peroxisome biogenesis disorder 7A (Zellweger) None 608666 614872 22 NA @@ -5789,6 +5851,7 @@ TUBA8|TUBAL2 TUBA8|TUBA8 TUBA8 Polymicrogyria with optic nerve hypoplasia Autoso PRODH|PRODH2|SCZD4 PRODH|PRODH,PRODH2|SCZD4 PRODH,SCZD4,PRODH2 Schizophrenia, susceptibility to, 4 Autosomal dominant 606810 600850 22 NA PRODH|PRODH2|SCZD4 PRODH|PRODH,PRODH2|SCZD4 PRODH,SCZD4,PRODH2 Hyperprolinemia, type I Autosomal recessive 606810 239500 22 NA SLC25A1|SLC20A3|CTP|D2L2AD SLC25A1|SLC25A1|SLC25A1|NA SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria Autosomal recessive 190315 615182 22 NA +CDC45L|CDC45L2|MGORS7 CDC45|CDC45|NA CDC45 Meier-Gorlin syndrome 7 Autosomal recessive 603465 617063 22 NA GP1BB|BS|BDPLT1 GP1BB|BLM|NA BLM,GP1BB Giant platelet disorder, isolated Autosomal recessive 138720 231200 22 NA GP1BB|BS|BDPLT1 GP1BB|BLM|NA BLM,GP1BB Bernard-Soulier syndrome, type B Autosomal recessive 138720 231200 22 NA TBX1|DGS|CTHM|CAFS|TGA|DORV|VCFS|DGCR TBX1|NA|CTHM|NA|NA|NA|NA|DGCR DGCR,TBX1,CTHM Velocardiofacial syndrome Autosomal dominant 602054 192430 22 NA @@ -5803,22 +5866,22 @@ SCARF2|SREC2|VDEGS SCARF2|SCARF2|NA SCARF2 Van den Ende-Gupta syndrome Autosomal PI4KA|PIK4CA|PMGYCHA PI4KA|PI4KA|NA PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Autosomal recessive 600286 616531 22 NA HCF2|HC2|SERPIND1|THPH10 SERPIND1|PSMA1,SERPIND1,CYCSP38|SERPIND1|NA PSMA1,CYCSP38,SERPIND1 Thrombophilia due to heparin cofactor II deficiency Autosomal dominant 142360 612356 22 proximal to BCR SNAP29|CEDNIK SNAP29|SNAP29 SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Autosomal recessive 604202 609528 22 NA -LZTR1|SWNTS2|NS10 LZTR1|NA|NA LZTR1 Noonan syndrome 10 Autosomal dominant 600574 616564 22 NA LZTR1|SWNTS2|NS10 LZTR1|NA|NA LZTR1 Schwannomatosis-2, susceptibility to Autosomal dominant 600574 615670 22 NA +LZTR1|SWNTS2|NS10 LZTR1|NA|NA LZTR1 Noonan syndrome 10 Autosomal dominant 600574 616564 22 NA GGT2 GGT2 GGT2 Gamma-glutamyltransferase, familial high serum None 137181 137181 22 NA -BCR|CML|PHL|ALL BCR|BCR|BCR|BCR BCR Leukemia, acute lymphocytic, somatic None 151410 613065 22 Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML BCR|CML|PHL|ALL BCR|BCR|BCR|BCR BCR Leukemia, chronic myeloid, somatic None 151410 608232 22 Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML +BCR|CML|PHL|ALL BCR|BCR|BCR|BCR BCR Leukemia, acute lymphocytic, somatic None 151410 613065 22 Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML IGLL1|IGO|IGL5|VPREB2|AGM2 IGLL1|NA|IGLL1|NA|NA IGLL1 Agammaglobulinemia 2 Autosomal recessive 146770 613500 22 between BCR2 and BCR4; distal to IGLC -CHCHD10|FTDALS2|SMAJ|IMMD CHCHD10|NA|NA|NA CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant Autosomal dominant 615903 616209 22 mutation identified in 1 IMMD family CHCHD10|FTDALS2|SMAJ|IMMD CHCHD10|NA|NA|NA CHCHD10 Spinal muscular atrophy, Jokela type Autosomal dominant 615903 615048 22 mutation identified in 1 IMMD family CHCHD10|FTDALS2|SMAJ|IMMD CHCHD10|NA|NA|NA CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant 615903 615911 22 mutation identified in 1 IMMD family -SMARCB1|SNF5|INI1|RDT|RTPS1|MRD15|SWNTS1|CSS3 SMARCB1|NA|NA|SMARCB1|NA|NA|NA|CHSY3 SMARCB1,CHSY3 Schwannomatosis-1, susceptibility to Autosomal dominant 601607 162091 22 NA +CHCHD10|FTDALS2|SMAJ|IMMD CHCHD10|NA|NA|NA CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant Autosomal dominant 615903 616209 22 mutation identified in 1 IMMD family SMARCB1|SNF5|INI1|RDT|RTPS1|MRD15|SWNTS1|CSS3 SMARCB1|NA|NA|SMARCB1|NA|NA|NA|CHSY3 SMARCB1,CHSY3 Rhabdoid predisposition syndrome 1 Autosomal dominant 601607 609322 22 NA SMARCB1|SNF5|INI1|RDT|RTPS1|MRD15|SWNTS1|CSS3 SMARCB1|NA|NA|SMARCB1|NA|NA|NA|CHSY3 SMARCB1,CHSY3 Rhabdoid tumors, somatic None 601607 609322 22 NA SMARCB1|SNF5|INI1|RDT|RTPS1|MRD15|SWNTS1|CSS3 SMARCB1|NA|NA|SMARCB1|NA|NA|NA|CHSY3 SMARCB1,CHSY3 Coffin-Siris syndrome 3 Autosomal dominant 601607 614608 22 NA +SMARCB1|SNF5|INI1|RDT|RTPS1|MRD15|SWNTS1|CSS3 SMARCB1|NA|NA|SMARCB1|NA|NA|NA|CHSY3 SMARCB1,CHSY3 Schwannomatosis-1, susceptibility to Autosomal dominant 601607 162091 22 NA MIF MIF,S100A9 S100A9,MIF Rheumatoid arthritis, systemic juvenile, susceptibility to None 153620 604302 22 previously assigned to chr.19 -SPECC1L|KIAA0376|OBLFC1|GBBB2 SPECC1L|SPECC1L|NA|NA SPECC1L ?Facial clefting, oblique, 1 Isolated cases 614140 600251 22 mutation identified in 1 OBLFC1 patient SPECC1L|KIAA0376|OBLFC1|GBBB2 SPECC1L|SPECC1L|NA|NA SPECC1L Opitz GBBB syndrome, type II Autosomal dominant 614140 145410 22 mutation identified in 1 OBLFC1 patient +SPECC1L|KIAA0376|OBLFC1|GBBB2 SPECC1L|SPECC1L|NA|NA SPECC1L ?Facial clefting, oblique, 1 Isolated cases 614140 600251 22 mutation identified in 1 OBLFC1 patient UPB1|BUP1 UPB1|UPB1 UPB1 Beta-ureidopropionase deficiency Autosomal recessive 606673 613161 22 NA CRYBB3|CRYB3|CATCN2|CTRCT22 CRYBB3|CRYBB3|NA|NA CRYBB3 Cataract 22, autosomal recessive Autosomal dominant; Autosomal recessive 123630 609741 22 NA CRYBB2|CRYB2|CTRCT3|CCA2 CRYBB2|CRYBB2|NA|CRYBB2 CRYBB2 Cataract 3, multiple types None 123620 601547 22 2nd CRYB2 gene in same region @@ -5829,39 +5892,39 @@ CRYBB1|CATCN3|CTRCT17 CRYBB1|NA|NA CRYBB1 Cataract 17, multiple types None 60092 CRYBA4|CTRCT23 CRYBA4|NA CRYBA4 Cataract 23 None 123631 610425 22 NA MIAT|C22orf35 MIAT|MIAT MIAT Myocardial infarction, susceptibility to None 611082 608446 22 NA MN1|MGCR MN1|MN1 MN1 Meningioma Autosomal dominant 156100 607174 22 fused with TEL in AML -CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Breast cancer, susceptibility to Autosomal dominant 604373 114480 22 NA CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Breast and colorectal cancer, susceptibility to None 604373 NA 22 NA CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Osteosarcoma, somatic None 604373 259500 22 NA CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Li-Fraumeni syndrome None 604373 609265 22 NA CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Prostate cancer, familial, susceptibility to Autosomal dominant 604373 176807 22 NA +CHEK2|RAD53|CHK2|CDS1|LFS2 CHEK2|CHEK2|CHEK2|CDS1,CHEK2|NA CDS1,CHEK2 Breast cancer, susceptibility to Autosomal dominant 604373 114480 22 NA XBP1|XBP2 XBP1,XBP1P1|XBP1 XBP1P1,XBP1 Major affective disorder-7, susceptibility to None 194355 612371 22 pseudogene on chr.5 -EWSR1|EWS EWSR1|EWSR1 EWSR1 Neuroepithelioma None 133450 612219 22 t(11;22)(q24;q12); t(21;22)(q22;q12) EWSR1|EWS EWSR1|EWSR1 EWSR1 Ewing sarcoma None 133450 612219 22 t(11;22)(q24;q12); t(21;22)(q22;q12) -NEFH|CMT2CC NEFH|NA NEFH Charcot-Marie-Tooth disease, axonal, type 2CC Autosomal dominant 162230 616924 22 mutation identified in 1 family with ALS susceptibility +EWSR1|EWS EWSR1|EWSR1 EWSR1 Neuroepithelioma None 133450 612219 22 t(11;22)(q24;q12); t(21;22)(q22;q12) NEFH|CMT2CC NEFH|NA NEFH ?Amyotrophic lateral sclerosis, susceptibility to Autosomal dominant; Autosomal recessive 162230 105400 22 mutation identified in 1 family with ALS susceptibility +NEFH|CMT2CC NEFH|NA NEFH Charcot-Marie-Tooth disease, axonal, type 2CC Autosomal dominant 162230 616924 22 mutation identified in 1 family with ALS susceptibility +NF2 NF2 NF2 Meningioma, NF2-related, somatic None 607379 607174 22 loss of heterozygosity NF2 NF2 NF2 Schwannomatosis Autosomal dominant 607379 162091 22 loss of heterozygosity NF2 NF2 NF2 Neurofibromatosis, type 2 Autosomal dominant 607379 101000 22 loss of heterozygosity -NF2 NF2 NF2 Meningioma, NF2-related, somatic None 607379 607174 22 loss of heterozygosity TCN2|TC2 TCN2|TCN2 TCN2 Transcobalamin II deficiency Autosomal recessive 613441 275350 22 linked to P1 MORC2|ZCW3|ZCWCC1|KIAA0852|CMT2Z MORC2|MORC2|MORC2|MORC2|NA MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z Autosomal dominant 616661 616688 22 NA -DEPDC5|KIAA0645|FFEVF DEPDC5|DEPDC5|NA DEPDC5 Epilepsy, familial focal, with variable foci Autosomal dominant 614191 604364 22 NA +DEPDC5|KIAA0645|FFEVF1 DEPDC5|DEPDC5|NA DEPDC5 Epilepsy, familial focal, with variable foci 1 Autosomal dominant 614191 604364 22 NA SLC5A1|SGLT1 SLC5A1|SLC5A1 SLC5A1 Glucose/galactose malabsorption Autosomal recessive 182380 606824 22 NA FBXO7|FBX7|FBX|PKPS|PARK15 FBXO7|FBXO7|NA|NA|FBXO7 FBXO7 Parkinson disease 15, autosomal recessive Autosomal recessive 605648 260300 22 NA TIMP3|SFD TIMP3|ATP6V1H,TIMP3 TIMP3,ATP6V1H Sorsby fundus dystrophy Autosomal dominant 188826 136900 22 NA -LARGE|KIAA0609|MDC1D|MDDGA6|MDDGB6 LARGE|LARGE|NA|NA|NA LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Autosomal recessive 603590 613154 22 NA LARGE|KIAA0609|MDC1D|MDDGA6|MDDGB6 LARGE|LARGE|NA|NA|NA LARGE Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 Autosomal recessive 603590 608840 22 NA +LARGE|KIAA0609|MDC1D|MDDGA6|MDDGB6 LARGE|LARGE|NA|NA|NA LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Autosomal recessive 603590 613154 22 NA HMOX1|HMOX1D HMOX1|NA HMOX1 Pulmonary disease, chronic obstructive, susceptibility to None 141250 606963 22 NA HMOX1|HMOX1D HMOX1|NA HMOX1 Heme oxygenase-1 deficiency None 141250 614034 22 NA APOL4 APOL4 APOL4 Schizophrenia Autosomal dominant 607254 181500 22 NA APOL2 APOL2 APOL2 Schizophrenia Autosomal dominant 607252 181500 22 NA APOL1|FSGS4 APOL1|NA APOL1 Glomerulosclerosis, focal segmental, 4, susceptibility to None 603743 612551 22 NA APOL1|FSGS4 APOL1|NA APOL1 End-stage renal disease, nondiabetic, susceptibility to None 603743 612551 22 NA -MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Fechtner syndrome Autosomal dominant 160775 153640 22 NA MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Epstein syndrome Autosomal dominant 160775 153650 22 NA MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Deafness, autosomal dominant 17 Autosomal dominant 160775 603622 22 NA MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Sebastian syndrome Autosomal dominant 160775 605249 22 NA MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 May-Hegglin anomaly Autosomal dominant 160775 155100 22 NA MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Macrothrombocytopenia and progressive sensorineural deafness Autosomal dominant 160775 600208 22 NA +MYH9|MHA|FTNS|DFNA17|BDPLT6 MYH9|MYH9|MYH9|MYH9|NA MYH9 Fechtner syndrome Autosomal dominant 160775 153640 22 NA TXN2|TRX2|MTRX|COXPD29 TXN2|KMT2B|NA|NA TXN2,KMT2B ?Combined oxidative phosphorylation deficiency 29 Autosomal recessive 609063 616811 22 mutation identified in 1 COXPD29 patient CACNG2|MRD10 CACNG2|NA CACNG2 Mental retardation, autosomal dominant 10 None 602911 614256 22 NA IFT27|RABL4|BBS19 IFT27|IFT27|IFT27 IFT27 ?Bardet-Biedl syndrome 19 Autosomal recessive 615870 615996 22 mutation identified in 1 BBS19 family @@ -5872,16 +5935,16 @@ TMPRSS6|IRIDA TMPRSS6|NA TMPRSS6 Iron-refractory iron deficiency anemia Autosoma RAC2 RAC2 RAC2 Neutrophil immunodeficiency syndrome None 602049 608203 22 NA LGALS2 LGALS2,LGALS3 LGALS3,LGALS2 Myocardial infarction, susceptibility to None 150571 608446 22 NA TRIOBP|KIAA1662 TRIOBP|TRIOBP TRIOBP Deafness, autosomal recessive 28 Autosomal recessive 609761 609823 22 NA -SOX10|WS4|WS4C|PCWH SOX10|SOX10|NA|NA SOX10 Waardenburg syndrome, type 4C Autosomal dominant 602229 613266 22 megacolon and spotting in mice SOX10|WS4|WS4C|PCWH SOX10|SOX10|NA|NA SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement Autosomal dominant 602229 611584 22 megacolon and spotting in mice SOX10|WS4|WS4C|PCWH SOX10|SOX10|NA|NA SOX10 PCWH syndrome Autosomal dominant 602229 609136 22 megacolon and spotting in mice -PLA2G6|IPLA2|INAD1|NBIA2B|NBIA2A|PARK14 PLA2G6|NA|NA|NA|NA|PLA2G6 PLA2G6 Neurodegeneration with brain iron accumulation 2B Autosomal recessive 603604 610217 22 NA +SOX10|WS4|WS4C|PCWH SOX10|SOX10|NA|NA SOX10 Waardenburg syndrome, type 4C Autosomal dominant 602229 613266 22 megacolon and spotting in mice PLA2G6|IPLA2|INAD1|NBIA2B|NBIA2A|PARK14 PLA2G6|NA|NA|NA|NA|PLA2G6 PLA2G6 Infantile neuroaxonal dystrophy 1 Autosomal recessive 603604 256600 22 NA PLA2G6|IPLA2|INAD1|NBIA2B|NBIA2A|PARK14 PLA2G6|NA|NA|NA|NA|PLA2G6 PLA2G6 Parkinson disease 14, autosomal recessive Autosomal recessive 603604 612953 22 NA +PLA2G6|IPLA2|INAD1|NBIA2B|NBIA2A|PARK14 PLA2G6|NA|NA|NA|NA|PLA2G6 PLA2G6 Neurodegeneration with brain iron accumulation 2B Autosomal recessive 603604 610217 22 NA DNAL4|MRMV3 DNAL4|NA DNAL4 ?Mirror movements 3 Autosomal recessive 610565 616059 22 mutation identified in 1 MRMV3 family +PDGFB|SIS|IBGC5 PDGFB|PDGFB|NA PDGFB Basal ganglia calcification, idiopathic, 5 Autosomal dominant 190040 615483 22 fused with COL1A1 in DFSP PDGFB|SIS|IBGC5 PDGFB|PDGFB|NA PDGFB Meningioma, SIS-related Autosomal dominant 190040 607174 22 fused with COL1A1 in DFSP PDGFB|SIS|IBGC5 PDGFB|PDGFB|NA PDGFB Dermatofibrosarcoma protuberans None 190040 607907 22 fused with COL1A1 in DFSP -PDGFB|SIS|IBGC5 PDGFB|PDGFB|NA PDGFB Basal ganglia calcification, idiopathic, 5 Autosomal dominant 190040 615483 22 fused with COL1A1 in DFSP ADSL ADSL ADSL Adenylosuccinase deficiency Autosomal recessive 608222 103050 22 ade(-)I; bifunctional MKL1|AMKL|MAL MKL1|NA|MAL,MKL1 MKL1,MAL Megakaryoblastic leukemia, acute None 606078 NA 22 fusion with RBM15 XPNPEP3|APP3|NPHPL1 XPNPEP3|XPNPEP3|XPNPEP3 XPNPEP3 Nephronophthisis-like nephropathy 1 Autosomal recessive 613553 613159 22 NA @@ -5890,16 +5953,16 @@ EP300|RSTS2 EP300|NA EP300 Colorectal cancer, somatic None 602700 114500 22 NA ACO2|ICRD|OPA9 ACO2|NA|NA ACO2 Infantile cerebellar-retinal degeneration Autosomal recessive 100850 614559 22 distal to Ph1 break; mutation identified in 1 OPA9 family ACO2|ICRD|OPA9 ACO2|NA|NA ACO2 ?Optic atrophy 9 Autosomal recessive 100850 616289 22 distal to Ph1 break; mutation identified in 1 OPA9 family TNFRSF13C|BAFFR|CVID4 TNFRSF13C|TNFRSF13C|NA TNFRSF13C Immunodeficiency, common variable, 4 Autosomal recessive 606269 613494 22 NA -NAGA NAGA NAGA Schindler disease, type III Autosomal recessive 104170 609241 22 proximal to Ph1 break NAGA NAGA NAGA Schindler disease, type I Autosomal recessive 104170 609241 22 proximal to Ph1 break NAGA NAGA NAGA Kanzaki disease Autosomal recessive 104170 609242 22 proximal to Ph1 break +NAGA NAGA NAGA Schindler disease, type III Autosomal recessive 104170 609241 22 proximal to Ph1 break CYP2D6|CPD6|P450DB1 CYP2D6|CYP2D6|NA CYP2D6 Debrisoquine sensitivity Autosomal recessive 124030 608902 22 NA CYP2D6|CPD6|P450DB1 CYP2D6|CYP2D6|NA CYP2D6 Codeine sensitivity Autosomal recessive 124030 608902 22 NA CYB5R3|DIA1|B5R CYB5R3|C3orf58,CYB5R3|NA C3orf58,CYB5R3 Methemoglobinemia, type II Autosomal recessive 613213 250800 22 NA CYB5R3|DIA1|B5R CYB5R3|C3orf58,CYB5R3|NA C3orf58,CYB5R3 Methemoglobinemia, type I Autosomal recessive 613213 250800 22 NA +A4GALT|P1PK A4GALT|NA A4GALT Blood group, P1Pk system, P(2) phenotype None 607922 111400 22 NA A4GALT|P1PK A4GALT|NA A4GALT Blood group, P1Pk system, p phenotype None 607922 111400 22 NA A4GALT|P1PK A4GALT|NA A4GALT NOR polyagglutination syndrome None 607922 111400 22 NA -A4GALT|P1PK A4GALT|NA A4GALT Blood group, P1Pk system, P(2) phenotype None 607922 111400 22 NA FBLN1 FBLN1 FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses Autosomal dominant 135820 608180 22 NA ATXN10|SCA10 ATXN10|ATXN10 ATXN10 Spinocerebellar ataxia 10 Autosomal dominant 611150 603516 22 ATTCTn repeat in intron 9 PPARA|PPAR PPARA|PPARA PPARA Hyperapobetalipoproteinemia, susceptibility to None 170998 NA 22 NA @@ -5921,14 +5984,12 @@ AGMX2|XLA2|IMD6 AGMX2|NA|NA AGMX2 Agammaglobulinemia, X-linked 2 X-linked 300310 AIC AIC AIC Aicardi syndrome X-linked dominant 304050 304050 X ?in p22.31 with FDH as contiguous gene syndrome EMWX EMWX EMWX Episodic muscle weakness, X-linked None 300211 300211 X NA FGS3 FGS3 FGS3 FG syndrome 3 None 300406 300406 X NA -MRX2 PQBP1 PQBP1 Mental retardation, X-linked 2 None 300428 300428 X NA -MRX49 MRX49 MRX49 Mental retardation, X-linked 49 None 300114 300114 X NA +MRX2 PQBP1 PQBP1 Mental retardation, X-linked 2 X-linked 300428 300428 X NA OASD OASD OASD Ocular albinism with sensorineural deafness X-linked 300650 300650 X ?allelic to OA1 -PDR PDR PDR Pigment disorder, reticulate X-linked 301220 301220 X between DXS1052 and DXS1061 XG XG XG Blood group, XG system None 314700 NA X nonlyonizing; spans pseudoautosomal boundary; XGPY on Yq11.21 +SHOX|GCFX|SS|PHOG SHOX|SHOX|GYPB,SHOX|SHOX SHOX,GYPB Short stature, idiopathic familial None 312865 300582 X pseudoautosomal; ?gene causing short stature in Turner syndrome SHOX|GCFX|SS|PHOG SHOX|SHOX|GYPB,SHOX|SHOX SHOX,GYPB Leri-Weill dyschondrosteosis Autosomal dominant 312865 127300 X pseudoautosomal; ?gene causing short stature in Turner syndrome SHOX|GCFX|SS|PHOG SHOX|SHOX|GYPB,SHOX|SHOX SHOX,GYPB Langer mesomelic dysplasia Autosomal recessive 312865 249700 X pseudoautosomal; ?gene causing short stature in Turner syndrome -SHOX|GCFX|SS|PHOG SHOX|SHOX|GYPB,SHOX|SHOX SHOX,GYPB Short stature, idiopathic familial None 312865 300582 X pseudoautosomal; ?gene causing short stature in Turner syndrome CSF2RA|SMDP4 CSF2RA|NA CSF2RA Surfactant metabolism dysfunction, pulmonary, 4 None 306250 300770 X order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen ARSE|CDPX1|CDPXR ARSE|ARSE|NA ARSE Chondrodysplasia punctata, X-linked recessive X-linked recessive 300180 302950 X CDPX1 in contiguous gene syndrome with STS NLGN4|KIAA1260|AUTSX2|ASPGX2 NLGN4X|NLGN4X|NA|NA NLGN4X Autism susceptibility, X-linked 2 X-linked; Isolated cases; Multifactorial 300427 300495 X NA @@ -5941,11 +6002,13 @@ HBFQTL3|FCP1|FCPX|FCP FCP1|FCP1,CTDP1|FCP1|NA FCP1,CTDP1 Fetal hemoglobin quanti MRX73 MRX73 MRX73 Mental retardation, X-linked 73 X-linked recessive 300355 300355 X between DXS8019 and DXS365 GPR143|OA1|NYS6 GPR143|GPR143|NA GPR143 Ocular albinism, type I, Nettleship-Falls type X-linked 300808 300500 X linked to XG GPR143|OA1|NYS6 GPR143|GPR143|NA GPR143 Nystagmus 6, congenital, X-linked None 300808 300814 X linked to XG +CLCN4|MRX49|MRX15 CLCN4|MRX49|MRX15 MRX49,MRX15,CLCN4 Mental retardation, X-linked 49/15 X-linked recessive 302910 300114 X NA MID1|OGS1|BBBG1|FXY|OSX MID1|NA|NA|MID1|SP7 SP7,MID1 Opitz GBBB syndrome, type I X-linked recessive 300552 300000 X type II defect on chr.22 HCCS|MCOPS7|LSDMCA1 HCCS|NA|NA HCCS Linear skin defects with multiple congenital anomalies 1 X-linked dominant 300056 309801 X NA AMELX|AMG|AIH1|AMGX|AI1E AMELX|AMELX|AMELX|NA|NA AMELX Amelogenesis imperfecta, type 1E X-linked dominant 300391 301200 X also Y +FRMPD4|PRESO|KIAA0316|MRX104 FRMPD4|NA|FRMPD4|NA FRMPD4 Mental retardation, X-linked 104 X-linked recessive 300838 300983 X NA TRAPPC2|SEDL|SEDT TRAPPC2|TRAPPC2|TRAPPC2 TRAPPC2 Spondyloepiphyseal dysplasia tarda X-linked recessive 300202 313400 X NA -OFD1|CXorf5|SGBS2|JBTS10|RP23 OFD1|OFD1|NA|OFD1|OFD1 OFD1 Joubert syndrome 10 None 300170 300804 X mutation identified in 1 RP23 family +OFD1|CXorf5|SGBS2|JBTS10|RP23 OFD1|OFD1|NA|OFD1|OFD1 OFD1 Joubert syndrome 10 X-linked recessive 300170 300804 X mutation identified in 1 RP23 family OFD1|CXorf5|SGBS2|JBTS10|RP23 OFD1|OFD1|NA|OFD1|OFD1 OFD1 ?Retinitis pigmentosa 23 X-linked recessive 300170 300424 X mutation identified in 1 RP23 family OFD1|CXorf5|SGBS2|JBTS10|RP23 OFD1|OFD1|NA|OFD1|OFD1 OFD1 Simpson-Golabi-Behmel syndrome, type 2 X-linked recessive 300170 300209 X mutation identified in 1 RP23 family OFD1|CXorf5|SGBS2|JBTS10|RP23 OFD1|OFD1|NA|OFD1|OFD1 OFD1 Orofaciodigital syndrome I X-linked dominant 300170 311200 X mutation identified in 1 RP23 family @@ -5964,59 +6027,60 @@ PDHA1|PHE1A|PDHAD PDHA1|NA|NA PDHA1 Pyruvate dehydrogenase E1-alpha deficiency X RPS6KA3|RSK2|MRX19 RPS6KA3|RPS6KA3|RPS6KA3 RPS6KA3 Mental retardation, X-linked 19 X-linked dominant 300075 300844 X NA RPS6KA3|RSK2|MRX19 RPS6KA3|RPS6KA3|RPS6KA3 RPS6KA3 Coffin-Lowry syndrome X-linked dominant; Isolated cases 300075 303600 X NA SMPX|DFNX4 SMPX|SMPX SMPX Deafness, X-linked 4 X-linked dominant 300226 300066 X NA -MBTPS2|S2P|IFAP|KFSDX|OLMSX MBTPS2|MBTPS2|NA|NA|NA MBTPS2 ?Olmsted syndrome, X-linked X-linked recessive 300294 300918 X mutation identified in 1 OLMSX family MBTPS2|S2P|IFAP|KFSDX|OLMSX MBTPS2|MBTPS2|NA|NA|NA MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked X-linked recessive 300294 308800 X mutation identified in 1 OLMSX family MBTPS2|S2P|IFAP|KFSDX|OLMSX MBTPS2|MBTPS2|NA|NA|NA MBTPS2 IFAP syndrome with or without BRESHECK syndrome X-linked recessive 300294 308205 X mutation identified in 1 OLMSX family +MBTPS2|S2P|IFAP|KFSDX|OLMSX MBTPS2|MBTPS2|NA|NA|NA MBTPS2 ?Olmsted syndrome, X-linked X-linked recessive 300294 300918 X mutation identified in 1 OLMSX family SMS|SRS|MRSR RAI1,SMS|RSS,SMS|SMS RAI1,SMS,RSS Mental retardation, X-linked, Snyder-Robinson type X-linked recessive 300105 309583 X NA PHEX|HYP|HPDR1|LXHR PHEX|PHEX|PHEX|NA PHEX Hypophosphatemic rickets, X-linked dominant X-linked dominant 300550 307800 X NA PTCHD1|AUTSX4 PTCHD1|NA PTCHD1 Autism, susceptibility to, X-linked 4 X-linked recessive 300828 300830 X NA +KLHL15|KIAA1677 KLHL15|KLHL15 KLHL15 Mental retardation, X-linked 103 X-linked recessive 300980 300982 X NA PDK3|CMTX6 PDK3|NA PDK3 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 X-linked dominant 300906 300905 X 1 family identified with mutation -POLA1 POLA1 POLA1 ?N syndrome X-linked 312040 310465 X proximal to ZFX +POLA1 POLA1 POLA1 Pigmentary disorder, reticulate, with systemic manifestations, X-linked X-linked recessive 312040 301220 X NA RP6 RP6 RP6 ?Retinitis pigmentosa, X-linked recessive, 6 X-linked recessive 312612 312612 X NA -ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Partington syndrome X-linked recessive 300382 309510 X NA -ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Mental retardation, X-linked 29 and others None 300382 300419 X NA ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Lissencephaly, X-linked 2 X-linked 300382 300215 X NA ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Hydranencephaly with abnormal genitalia X-linked 300382 300215 X NA ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Epileptic encephalopathy, early infantile, 1 X-linked recessive 300382 308350 X NA ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Proud syndrome X-linked 300382 300004 X NA +ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Partington syndrome X-linked recessive 300382 309510 X NA +ARX|ISSX|PRTS|MRXS1|MRX36|MRX54|MRX43|MRX87|MRX29|MRX32 ARX,UBA2|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX|ARX ARX,UBA2 Mental retardation, X-linked 29 and others X-linked recessive 300382 300419 X NA IL1RAPL1|IL1R8|MRX21|MRX34 IL1RAPL1|IL1RAPL1|IL1RAPL1|IL1RAPL1 IL1RAPL1 Mental retardation, X-linked 21/34 X-linked recessive 300206 300143 X NA DFNX3|DFN4 DFNX3|DFNX3 DFNX3 Deafness, X-linked 3 X-linked 300030 300030 X ?same as DMD -DAX1|AHC|AHX|NR0B1|SRXY2 NR0B1|NR0B1|NA|NR0B1|NA NR0B1 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism X-linked recessive 300473 300200 X distal to GK DAX1|AHC|AHX|NR0B1|SRXY2 NR0B1|NR0B1|NA|NR0B1|NA NR0B1 46XY sex reversal 2, dosage-sensitive X-linked 300473 300018 X distal to GK +DAX1|AHC|AHX|NR0B1|SRXY2 NR0B1|NR0B1|NA|NR0B1|NA NR0B1 Adrenal hypoplasia, congenital X-linked recessive 300473 300200 X distal to GK GK GK GK Glycerol kinase deficiency X-linked recessive 300474 307030 X 2Mb distal to DMD; pseudogene on 4q32 -DMD|BMD|CMD3B DMD|BEST1,DMD|NA BEST1,DMD Cardiomyopathy, dilated, 3B X-linked 300377 302045 X dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 DMD|BMD|CMD3B DMD|BEST1,DMD|NA BEST1,DMD Becker muscular dystrophy X-linked recessive 300377 300376 X dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 DMD|BMD|CMD3B DMD|BEST1,DMD|NA BEST1,DMD Duchenne muscular dystrophy X-linked recessive 300377 310200 X dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 +DMD|BMD|CMD3B DMD|BEST1,DMD|NA BEST1,DMD Cardiomyopathy, dilated, 3B X-linked 300377 302045 X dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 XK|MCLDS XK|NA XK McLeod syndrome with or without chronic granulomatous disease X-linked 314850 300842 X ~500kb distal to CGD CYBB|CGD|AMCBX2|IMD34 CYBB|CYBB|NA|NA CYBB Immunodeficiency 34, mycobacteriosis, X-linked X-linked recessive 300481 300645 X proximal to DMD CYBB|CGD|AMCBX2|IMD34 CYBB|CYBB|NA|NA CYBB Chronic granulomatous disease, X-linked X-linked recessive 300481 306400 X proximal to DMD MRX20 MRX20 MRX20 Mental retardation, X-linked 20 X-linked 300047 300047 X NA -MRX78 MRX78 MRX78 Mental retardation, X-linked 78 None 300551 300551 X max lod with DXS8054 and DXS1003 OPA2 OPA2 OPA2 Optic atrophy 2, X-linked X-linked 311050 311050 X NA PRS|MRXS2 PRS|PRS PRS Prieto syndrome X-linked recessive 309610 309610 X NA -RPGR|RP3|CRD|RP15|COD1|CORDX1 RPGR|MAPRE3,RPGR|CRX,RPGR|RPGR|COG4,RPGR|RPGR RPGR,CRX,MAPRE3,COG4 Cone-rod dystrophy, X-linked, 1 X-linked 312610 304020 X NA RPGR|RP3|CRD|RP15|COD1|CORDX1 RPGR|MAPRE3,RPGR|CRX,RPGR|RPGR|COG4,RPGR|RPGR RPGR,CRX,MAPRE3,COG4 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness None 312610 300455 X NA RPGR|RP3|CRD|RP15|COD1|CORDX1 RPGR|MAPRE3,RPGR|CRX,RPGR|RPGR|COG4,RPGR|RPGR RPGR,CRX,MAPRE3,COG4 Retinitis pigmentosa 3 None 312610 300029 X NA RPGR|RP3|CRD|RP15|COD1|CORDX1 RPGR|MAPRE3,RPGR|CRX,RPGR|RPGR|COG4,RPGR|RPGR RPGR,CRX,MAPRE3,COG4 Macular degeneration, X-linked atrophic X-linked recessive 312610 300834 X NA +RPGR|RP3|CRD|RP15|COD1|CORDX1 RPGR|MAPRE3,RPGR|CRX,RPGR|RPGR|COG4,RPGR|RPGR RPGR,CRX,MAPRE3,COG4 Cone-rod dystrophy, X-linked, 1 X-linked 312610 304020 X NA OTC OTC OTC Ornithine transcarbamylase deficiency X-linked recessive 300461 311250 X proximal to DMD, CGD -TSPAN7|TM4SF2|MXS1|A15|MRX58 TSPAN7|TSPAN7|TSPAN7|TSPAN7|TSPAN7 TSPAN7 Mental retardation, X-linked 58 None 300096 300210 X NA +TSPAN7|TM4SF2|MXS1|A15|MRX58 TSPAN7|TSPAN7|TSPAN7|TSPAN7|TSPAN7 TSPAN7 Mental retardation, X-linked 58 X-linked recessive 300096 300210 X NA BCOR|KIAA1575|MCOPS2|MAA2|ANOP2 BCOR|BCOR|NA|NA|NA BCOR Microphthalmia, syndromic 2 X-linked dominant 300485 300166 X NA -ATP6AP2|ATP6M8-9|XMRE|MRXSH|XPDS ATP6AP2|ATP6AP2|NA|NA|NA ATP6AP2 ?Parkinsonism with spasticity, X-linked Autosomal recessive 300556 300911 X mutation identified in 1 MRXSH family and 1 XPDS family ATP6AP2|ATP6M8-9|XMRE|MRXSH|XPDS ATP6AP2|ATP6AP2|NA|NA|NA ATP6AP2 ?Mental retardation, X-linked, syndromic, Hedera type X-linked recessive 300556 300423 X mutation identified in 1 MRXSH family and 1 XPDS family -USP9X|DFFRX|MRX99|MRXS99F USP9X|USP9X|USP9X|NA USP9X Mental retardation, X-linked 99, syndromic, female-restricted X-linked dominant 300072 300968 X NA +ATP6AP2|ATP6M8-9|XMRE|MRXSH|XPDS ATP6AP2|ATP6AP2|NA|NA|NA ATP6AP2 ?Parkinsonism with spasticity, X-linked Autosomal recessive 300556 300911 X mutation identified in 1 MRXSH family and 1 XPDS family USP9X|DFFRX|MRX99|MRXS99F USP9X|USP9X|USP9X|NA USP9X Mental retardation, X-linked 99 X-linked recessive 300072 300919 X NA +USP9X|DFFRX|MRX99|MRXS99F USP9X|USP9X|USP9X|NA USP9X Mental retardation, X-linked 99, syndromic, female-restricted X-linked dominant 300072 300968 X NA DDX3X|DDX3|DBX|MRX102 DDX3X|DDX3X|DDX3X|NA DDX3X Mental retardation, X-linked 102 X-linked recessive; X-linked dominant 300160 300958 X NA NYX|CSNB1A|NBM1 NYX|NYX|NA NYX Night blindness, congenital stationary (complete), 1A, X-linked X-linked recessive 300278 310500 X NA +CASK|MICPCH|FGS4|CMG|MRXSNA CASK|NA|CASK|NA|NA CASK FG syndrome 4 None 300172 300422 X NA CASK|MICPCH|FGS4|CMG|MRXSNA CASK|NA|CASK|NA|NA CASK Mental retardation, with or without nystagmus None 300172 300422 X NA CASK|MICPCH|FGS4|CMG|MRXSNA CASK|NA|CASK|NA|NA CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia X-linked dominant 300172 300749 X NA -CASK|MICPCH|FGS4|CMG|MRXSNA CASK|NA|CASK|NA|NA CASK FG syndrome 4 None 300172 300422 X NA MRX14 MRX14 MRX14 Mental retardation, X-linked 14 X-linked 300062 300062 X NA -MRX50 MRX50 MRX50 Mental retardation, X-linked 50 None 300115 300115 X NA -MRX84 MRX84 MRX84 Mental retardation, X-linked 84 None 300505 300505 X 29 other MRX loci in same region +MRX50 MRX50 MRX50 Mental retardation, X-linked 50 X-linked 300115 300115 X NA +MRX84 MRX84 MRX84 Mental retardation, X-linked 84 X-linked recessive 300505 300505 X 29 other MRX loci in same region MRX89 ZNF41 ZNF41 Mental retardation, X-linked 89 X-linked dominant 300848 300848 X t(X;7)(p11.3;q11.21) -MRX92 ZNF674 ZNF674 Mental retardation, X-linked 92 None 300851 300851 X previously associated with ZNF674 +MRX92 ZNF674 ZNF674 Mental retardation, X-linked 92 X-linked recessive 300851 300851 X previously associated with ZNF674 MRXS7 MRXS7 MRXS7 Mental retardation, X-linked syndromic 7 None 300218 300218 X NA -MAOA MAOA MAOA Brunner syndrome X-linked recessive 309850 300615 X NDP, MAOA, MAOB closely linked +MAOA|BRNRS MAOA|NA MAOA Antisocial behavior X-linked recessive 309850 300615 X NDP, MAOA, MAOB closely linked +MAOA|BRNRS MAOA|NA MAOA Brunner syndrome X-linked recessive 309850 300615 X NDP, MAOA, MAOB closely linked NDP|ND|EVR2 NDP|NA|NDP NDP Norrie disease X-linked recessive 300658 310600 X NA NDP|ND|EVR2 NDP|NA|NDP NDP Exudative vitreoretinopathy 2, X-linked None 300658 305390 X NA KDM6A|UTX|KABUK2 KDM6A|KDM6A|NA KDM6A Kabuki syndrome 2 X-linked dominant 300128 300867 X UTY also in mouse and man; escapes inactivation @@ -6025,14 +6089,14 @@ NDUFB11|LSDMCA3 NDUFB11|NA NDUFB11 Linear skin defects with multiple congenital RBM10|DXS8237E|KIAA0122|TARPS RBM10|RBM10|RBM10|NA RBM10 TARP syndrome X-linked recessive 300080 311900 X NA UBA1|UBE1|GXP1|A1ST|SMAX2|AMCX1 UBA1|UBA1|UBA1|NA|NA|NA UBA1 Spinal muscular atrophy, X-linked 2, infantile X-linked recessive 314370 301830 X escapes inactivation SYN1 SYN1 SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders X-linked recessive; X-linked dominant 313440 300491 X 5kb from PFC -MRX81 MRX81 MRX81 Mental retardation, X-linked 81 None 300433 300433 X between DXS1039 and DXS1216 +MRX81 MRX81 MRX81 Mental retardation, X-linked 81 X-linked dominant 300433 300433 X between DXS1039 and DXS1216 PFC|PFD CFP|CFD CFD,CFP Properdin deficiency, X-linked X-linked recessive 300383 312060 X NA -ZNF81|MRX45 ZNF81|ZNF81 ZNF81 Mental retardation, X-linked 45 None 314998 300498 X NA +ZNF81|MRX45 ZNF81|ZNF81 ZNF81 Mental retardation, X-linked 45 X-linked 314998 300498 X NA SSX1|SSRC SSX1|NA SSX1 ?Sarcoma, synovial None 312820 300813 X fused with SYT in synovial sarcoma -FTSJ1|JM23|SPB1|MRX44|MRX9 FTSJ1|FTSJ1|FTSJ1,FTSJ3|FTSJ1|FTSJ1 FTSJ3,FTSJ1 Mental retardation, X-linked 9 None 300499 309549 X NA +FTSJ1|JM23|SPB1|MRX44|MRX9 FTSJ1|FTSJ1|FTSJ1,FTSJ3|FTSJ1|FTSJ1 FTSJ3,FTSJ1 Mental retardation, X-linked 9 X-linked recessive 300499 309549 X NA PORCN|PORC|DHOF|FODH PORCN|HMBS,PORCN|PORCN|NA HMBS,PORCN Focal dermal hypoplasia X-linked dominant 300651 305600 X NA -EBP|CDPX2|CPXD|CPX|MEND EBP,GLB1,SH3D19|EBP|EBP|CPOX,EBP,TBX22|NA SH3D19,CPOX,TBX22,EBP,GLB1 MEND syndrome X-linked recessive 300205 300960 X NA EBP|CDPX2|CPXD|CPX|MEND EBP,GLB1,SH3D19|EBP|EBP|CPOX,EBP,TBX22|NA SH3D19,CPOX,TBX22,EBP,GLB1 Chondrodysplasia punctata, X-linked dominant X-linked dominant 300205 302960 X NA +EBP|CDPX2|CPXD|CPX|MEND EBP,GLB1,SH3D19|EBP|EBP|CPOX,EBP,TBX22|NA SH3D19,CPOX,TBX22,EBP,GLB1 MEND syndrome X-linked recessive 300205 300960 X NA WAS|IMD2|THC1|SCNX WAS|WAS|NA|NA WAS Wiskott-Aldrich syndrome X-linked recessive 300392 301000 X t(18;X)(q11.2;p11.2); distal to TIMP WAS|IMD2|THC1|SCNX WAS|WAS|NA|NA WAS Thrombocytopenia, X-linked, intermittent X-linked recessive 300392 313900 X t(18;X)(q11.2;p11.2); distal to TIMP WAS|IMD2|THC1|SCNX WAS|WAS|NA|NA WAS Thrombocytopenia, X-linked X-linked recessive 300392 313900 X t(18;X)(q11.2;p11.2); distal to TIMP @@ -6051,8 +6115,9 @@ CACNA1F|CSNB2|CORDX3|CSNB2A|AIED|OA2 CACNA1F|CACNA1F|CACNA1F|CACNA1F|CACNA1F|CAC CACNA1F|CSNB2|CORDX3|CSNB2A|AIED|OA2 CACNA1F|CACNA1F|CACNA1F|CACNA1F|CACNA1F|CACNA1F CACNA1F Cone-rod dystrophy, X-linked, 3 X-linked recessive 300110 300476 X NA CACNA1F|CSNB2|CORDX3|CSNB2A|AIED|OA2 CACNA1F|CACNA1F|CACNA1F|CACNA1F|CACNA1F|CACNA1F CACNA1F Aland Island eye disease X-linked 300110 300600 X NA CCDC22|RTSC2 CCDC22|NA CCDC22 Ritscher-Schinzel syndrome 2 X-linked recessive 300859 300963 X NA -FOXP3|IPEX|AIID|XPID|PIDX FOXP3|FOXP3|FOXP3|FOXP3|FOXP3 FOXP3 Diabetes mellitus, type I, susceptibility to Autosomal recessive 300292 222100 X NA FOXP3|IPEX|AIID|XPID|PIDX FOXP3|FOXP3|FOXP3|FOXP3|FOXP3 FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked X-linked recessive 300292 304790 X NA +FOXP3|IPEX|AIID|XPID|PIDX FOXP3|FOXP3|FOXP3|FOXP3|FOXP3 FOXP3 Diabetes mellitus, type I, susceptibility to Autosomal recessive 300292 222100 X NA +USP27X|USP22L|MRX105 USP27X|NA|NA USP27X Mental retardation 105 X-linked recessive 300975 300984 X NA CLCN5|CLCK2|NPHL2|DENTS|NPHL1 CLCN5|NA|CLCN5|CLCN5|CLCN5 CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis X-linked recessive 300008 308990 X NA CLCN5|CLCK2|NPHL2|DENTS|NPHL1 CLCN5|NA|CLCN5|CLCN5|CLCN5 CLCN5 Nephrolithiasis, type I X-linked recessive 300008 310468 X NA CLCN5|CLCK2|NPHL2|DENTS|NPHL1 CLCN5|NA|CLCN5|CLCN5|CLCN5 CLCN5 Hypophosphatemic rickets X-linked recessive 300008 300554 X NA @@ -6068,27 +6133,28 @@ DXS423E|SMC1|CDLS2 SMC1A|NA|NA SMC1A Cornelia de Lange syndrome 2 X-linked domin HSD17B10|HADH2|ERAB|MRXS10 HSD17B10|HSD17B10|HSD17B10|HSD17B10 HSD17B10 ?Mental retardation, X-linked syndromic 10 X-linked recessive 300256 300220 X mutation identified in 1 MRXS10 family HSD17B10|HADH2|ERAB|MRXS10 HSD17B10|HSD17B10|HSD17B10|HSD17B10 HSD17B10 17-beta-hydroxysteroid dehydrogenase X deficiency X-linked dominant 300256 300438 X mutation identified in 1 MRXS10 family HUWE1|UREB1|KIAA0312|LASU1 HUWE1|HUWE1|HUWE1|NA HUWE1 Mental retardation, X-linked syndromic, Turner type None 300697 300706 X NA -PHF8|ZNF422|KIAA1111|MRXSSD PHF8|PHF8,ZNF22|PHF8|NA PHF8,ZNF22 Mental retardation syndrome, X-linked, Siderius type None 300560 300263 X NA +PHF8|ZNF422|KIAA1111|MRXSSD PHF8|PHF8,ZNF22|PHF8|NA PHF8,ZNF22 Mental retardation syndrome, X-linked, Siderius type X-linked recessive 300560 300263 X NA TSR2|WGG1|DBA14 TSR2|TSR2|NA TSR2 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis X-linked recessive 300945 300946 X mutation identified in 1 DBA14 family -FGD1|FGDY|AAS|MRXS16 FGD1|FGD1|NA|NA FGD1 Mental retardation, X-linked syndromic 16 X-linked recessive 300546 305400 X NA FGD1|FGDY|AAS|MRXS16 FGD1|FGD1|NA|NA FGD1 Aarskog-Scott syndrome X-linked recessive 300546 305400 X NA -MRX52 MRX52 MRX52 Mental retardation, X-linked 52 None 300504 300504 X max lod at DXS559 +FGD1|FGDY|AAS|MRXS16 FGD1|FGD1|NA|NA FGD1 Mental retardation, X-linked syndromic 16 X-linked recessive 300546 305400 X NA +MRX52 MRX52 MRX52 Mental retardation, X-linked 52 X-linked recessive 300504 300504 X max lod at DXS559 MAGED2|MAGED|BARTS5 MAGED2|MAGED2|NA MAGED2 Bartter syndrome, type 5, antenatal, transient X-linked recessive 300470 300971 X NA -ALAS2|ANH1|ASB|XLEPP|XLSA|ANH1|SIDBA1 ALAS2|NA|ALAS2|NA|NA|NA|NA ALAS2 Protoporphyria, erythropoietic, X-linked X-linked dominant 301300 300752 X NA ALAS2|ANH1|ASB|XLEPP|XLSA|ANH1|SIDBA1 ALAS2|NA|ALAS2|NA|NA|NA|NA ALAS2 Anemia, sideroblastic, 1 X-linked recessive 301300 300751 X NA +ALAS2|ANH1|ASB|XLEPP|XLSA|ANH1|SIDBA1 ALAS2|NA|ALAS2|NA|NA|NA|NA ALAS2 Protoporphyria, erythropoietic, X-linked X-linked dominant 301300 300752 X NA UBQLN2|PLIC2|CHAP1|ALS15 UBQLN2|UBQLN2|NA|NA UBQLN2 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia X-linked dominant 300264 300857 X NA CGF1 CGF1 CGF1 Social cognition X-linked 300082 300082 X imprinted locus ARHGEF9|PEM2|KIAA0424|EIEE8 ARHGEF9|NA|ARHGEF9|NA ARHGEF9 Epileptic encephalopathy, early infantile, 8 X-linked recessive 300429 300607 X NA SPG16 SPG16 SPG16 Spastic paraplegia 16, X-linked, complicated X-linked recessive 300266 300266 X NA AMER1|FAM123B|WTX|OSCS AMER1|AMER1|AMER1|NA AMER1 Osteopathia striata with cranial sclerosis X-linked dominant 300647 300373 X NA ZC4H2|KIAA1166|WRWF ZC4H2|ZC4H2|NA ZC4H2 Wieacker-Wolff syndrome X-linked recessive 300897 314580 X NA -MRX77 MRX77 MRX77 Mental retardation, X-linked 77 None 300454 300454 X NA +MRX77 MRX77 MRX77 Mental retardation, X-linked 77 X-linked recessive 300454 300454 X NA MRXS9 RENS2 RENS2 Mental retardation, X-linked, syndromic 9 None 300709 300709 X between DXS1111 and DXS1197 -AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Spinal and bulbar muscular atrophy of Kennedy X-linked recessive 313700 313200 X NA +LAS1L|WTS LAS1L|HDAC8 HDAC8,LAS1L Wilson-Turner syndrome X-linked recessive 300964 309585 X NA AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Hypospadias 1, X-linked X-linked recessive 313700 300633 X NA AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Androgen insensitivity, partial, with or without breast cancer X-linked recessive 313700 312300 X NA AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Androgen insensitivity X-linked recessive 313700 300068 X NA AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Prostate cancer, susceptibility to Autosomal dominant 313700 176807 X NA +AR|DHTR|TFM|SBMA|KD|SMAX1|HYSP1 AKR1B1,AR|AR|NA|AR|NA|AR|NA AKR1B1,AR Spinal and bulbar muscular atrophy of Kennedy X-linked recessive 313700 313200 X NA OPHN1|MRX60 OPHN1|OPHN1 OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance X-linked recessive 300127 300486 X NA MCS|MRXS4 MCS|MCS MCS Miles-Carpenter syndrome X-linked 309605 309605 X linked to DXYS1 EFNB1|EPLG2|CFNS|CFND EFNB1|EFNB1|EFNB1|NA EFNB1 Craniofrontonasal dysplasia X-linked dominant 300035 304110 X ?CFNS also on Xp22 @@ -6100,28 +6166,28 @@ DLG3|NEDLG|SAP102|MRX90 DLG3,MPP3|DLG3|DLG3|DLG3 MPP3,DLG3 Mental retardation, X TEX11|SPGFX2 TEX11|NA TEX11 Spermatogenic failure, X-linked, 2 X-linked recessive 300311 309120 X NA IL2RG|SCIDX1|SCIDX|IMD4 IL2RG|IL2RG|NA|IL2RG IL2RG Severe combined immunodeficiency, X-linked X-linked recessive 308380 300400 X linked to DXS159 IL2RG|SCIDX1|SCIDX|IMD4 IL2RG|IL2RG|NA|IL2RG IL2RG Combined immunodeficiency, X-linked, moderate X-linked recessive 308380 312863 X linked to DXS159 -MED12|TNRC11|TRAP230|HOPA|KIAA0192|OKS|FGS1|OHDOX MED12|MED12|MED12|MED12|MED12|MED12|MED12|NA MED12 Opitz-Kaveggia syndrome X-linked recessive 300188 305450 X NA MED12|TNRC11|TRAP230|HOPA|KIAA0192|OKS|FGS1|OHDOX MED12|MED12|MED12|MED12|MED12|MED12|MED12|NA MED12 Ohdo syndrome, X-linked X-linked recessive 300188 300895 X NA MED12|TNRC11|TRAP230|HOPA|KIAA0192|OKS|FGS1|OHDOX MED12|MED12|MED12|MED12|MED12|MED12|MED12|NA MED12 Lujan-Fryns syndrome X-linked recessive 300188 309520 X NA +MED12|TNRC11|TRAP230|HOPA|KIAA0192|OKS|FGS1|OHDOX MED12|MED12|MED12|MED12|MED12|MED12|MED12|NA MED12 Opitz-Kaveggia syndrome X-linked recessive 300188 305450 X NA NLGN3|ASPGX1|AUTSX1 NLGN3|NLGN3|NLGN3 NLGN3 Asperger syndrome susceptibility, X-linked 1 X-linked; Isolated cases; Multifactorial 300336 300494 X NA NLGN3|ASPGX1|AUTSX1 NLGN3|NLGN3|NLGN3 NLGN3 Autism susceptibility, X-linked 1 X-linked; Isolated cases; Multifactorial 300336 300425 X NA GJB1|CX32|CMTX1 GJB1|GJB1|GJB1 GJB1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 X-linked dominant 304040 302800 X NA NONO|NRB54|MRXS34 NONO|NONO|NA NONO Mental retardation, X-linked, syndromic 34 Autosomal dominant 300084 300967 X 2Mb proximal to PHKA1 -TAF1|TAF2A|CCG1|BA2R|DYT3|MRXS33 TAF1|TAF1,TAF10|TAF1|TAF1|TAF1|NA TAF10,TAF1 Dystonia-Parkinsonism, X-linked X-linked recessive 313650 314250 X SVA retrotransposon insertion TAF1|TAF2A|CCG1|BA2R|DYT3|MRXS33 TAF1|TAF1,TAF10|TAF1|TAF1|TAF1|NA TAF10,TAF1 Mental retardation, X-linked, syndromic 33 X-linked recessive 313650 300966 X SVA retrotransposon insertion -HDAC8|WTS|MRXS6|CDLS5 HDAC8|HDAC8|HDAC8|NA HDAC8 Wilson-Turner syndrome X-linked dominant 300269 309585 X NA -HDAC8|WTS|MRXS6|CDLS5 HDAC8|HDAC8|HDAC8|NA HDAC8 Cornelia de Lange syndrome 5 X-linked dominant 300269 300882 X NA +TAF1|TAF2A|CCG1|BA2R|DYT3|MRXS33 TAF1|TAF1,TAF10|TAF1|TAF1|TAF1|NA TAF10,TAF1 Dystonia-Parkinsonism, X-linked X-linked recessive 313650 314250 X SVA retrotransposon insertion +HDAC8|MRXS6|CDLS5 HDAC8|HDAC8|NA HDAC8 Cornelia de Lange syndrome 5 X-linked dominant 300269 300882 X NA PHKA1 PHKA1 PHKA1 Muscle glycogenosis X-linked recessive 311870 300559 X ?proximal and close to PGKA; XIC|XCE|XIST|SXI1 XIC|ECEL1,XCE|XIST|NA XIST,ECEL1,XIC,XCE X-inactivation, familial skewed None 314670 300087 X q13-q21; metaphase bend, or fold, at q13.3-q21.1 SLC16A2|DXS128|XPCT SLC16A2|SLC16A2|SLC16A2 SLC16A2 Allan-Herndon-Dudley syndrome X-linked dominant 300095 300523 X NA +RNF12|RLIM|MRX61 RLIM|RLIM|MRX61 RLIM,MRX61 Mental retardation, X-linked 61 X-linked recessive 300379 300978 X NA KIAA2022|MRX98 KIAA2022|KIAA2022 KIAA2022 Mental retardation, X-linked 98 X-linked recessive 300524 300912 X inv(X)(q13;p22) ABCB7|ABC7|ASAT ABCB7|ABCB7|ABCB7 ABCB7 Anemia, sideroblastic, with ataxia X-linked recessive 300135 301310 X NA ZDHHC15|MRX91 ZDHHC15|ZDHHC15 ZDHHC15 ?Mental retardation, X-linked 91 X-linked dominant 300576 300577 X disruption of ZDHHC15 identified in 1 patient PARK12 PARK12 PARK12 Parkinson disease 12 None 300557 300557 X max lod with DXS1106, DXS8055, DXS1001 FGF16|MF4 FGF16|FGF16 FGF16 Metacarpal 4-5 fusion X-linked recessive 300827 309630 X previously mapped to 8q21.3 -ATRX|XH2|XNP|SHS|SFM1|MRXHF1 ATRX|ATRX|ATRX|PQBP1|NA|NA ATRX,PQBP1 Alpha-thalassemia/mental retardation syndrome X-linked dominant 300032 301040 X NA ATRX|XH2|XNP|SHS|SFM1|MRXHF1 ATRX|ATRX|ATRX|PQBP1|NA|NA ATRX,PQBP1 Alpha-thalassemia myelodysplasia syndrome, somatic None 300032 300448 X NA ATRX|XH2|XNP|SHS|SFM1|MRXHF1 ATRX|ATRX|ATRX|PQBP1|NA|NA ATRX,PQBP1 Mental retardation-hypotonic facies syndrome, X-linked X-linked recessive 300032 309580 X NA +ATRX|XH2|XNP|SHS|SFM1|MRXHF1 ATRX|ATRX|ATRX|PQBP1|NA|NA ATRX,PQBP1 Alpha-thalassemia/mental retardation syndrome X-linked dominant 300032 301040 X NA MAGT1|IAP|XMEN MAGT1|CD47,IAPP,MAGT1|NA CD47,MAGT1,IAPP Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia None 300715 300853 X NA COX7B|LSDMCA2 COX7B|NA COX7B Linear skin defects with multiple congenital anomalies X-linked dominant 300885 300887 X NA ATP7A|MNK|MK|OHS|SMAX3 ATP7A|ATP7A|MDK,MVK|NA|NA MDK,MVK,ATP7A Spinal muscular atrophy, distal, X-linked 3 X-linked recessive 300011 300489 X probably Xq13.2-q13.3, ~150kb prox. to PGK1 @@ -6132,7 +6198,7 @@ TBX22|CPX|ABERS TBX22|CPOX,EBP,TBX22|NA CPOX,TBX22,EBP Cleft palate with ankylog TBX22|CPX|ABERS TBX22|CPOX,EBP,TBX22|NA CPOX,TBX22,EBP ?Abruzzo-Erickson syndrome X-linked 300307 302905 X 1 ABERS family identified with mutation BRWD3|MRX93 BRWD3|BRWD3 BRWD3 Mental retardation, X-linked 93 X-linked recessive 300553 300659 X NA POU3F4|DFN3|DFNX2 POU3F4|POU3F4|POU3F4 POU3F4 Deafness, X-linked 2 X-linked recessive 300039 304400 X NA -ZNF711|ZNF6|CMPX1|MRX97 ZNF711|ZNF711|ZNF711|ZNF711 ZNF711 Mental retardation, X-linked 97 None 314990 300803 X NA +ZNF711|ZNF6|CMPX1|MRX97 ZNF711|ZNF711|ZNF711|ZNF711 ZNF711 Mental retardation, X-linked 97 X-linked 314990 300803 X NA FLJ22792|POF1B|POF2B POF1B|POF1B|NA POF1B Premature ovarian failure 2B None 300603 300604 X NA CHM|TCD CHM|CHM CHM Choroideremia X-linked dominant 300390 303100 X NA DIAPH2|DIA|POF2 DIAPH2|DIAPH2,LIF|DIAPH2 LIF,DIAPH2 Premature ovarian failure None 300108 300511 X NA @@ -6142,24 +6208,24 @@ SRPX2|SRPUL|RESDX SRPX2|SRPX2|NA SRPX2 ?Rolandic epilepsy, mental retardation, a TIMM8A|DFN1|DDP|MTS|DDP1 TIMM8A|TIMM8A|TIMM8A|TIMM8A|NA TIMM8A Mohr-Tranebjaerg syndrome X-linked recessive 300356 304700 X NA BTK|AGMX1|IMD1|XLA|AT BTK|BTK|BTK|BTK|NA BTK Agammaglobulinemia, X-linked 1 X-linked recessive 300300 300755 X NA BTK|AGMX1|IMD1|XLA|AT BTK|BTK|BTK|BTK|NA BTK Agammaglobulinemia and isolated hormone deficiency X-linked recessive 300300 307200 X NA -GLA GLA,NAT8 GLA,NAT8 Fabry disease, cardiac variant X-linked 300644 301500 X NA GLA GLA,NAT8 GLA,NAT8 Fabry disease X-linked 300644 301500 X NA -MRX53 MRX53 MRX53 Mental retardation, X-linked 53 None 300324 300324 X NA +GLA GLA,NAT8 GLA,NAT8 Fabry disease, cardiac variant X-linked 300644 301500 X NA +MRX53 MRX53 MRX53 Mental retardation, X-linked 53 X-linked recessive 300324 300324 X NA PLP1|PMD|HLD1|SPG2 PLP1|NA|NA|PLP1 PLP1 Spastic paraplegia 2, X-linked X-linked recessive 300401 312920 X NA PLP1|PMD|HLD1|SPG2 PLP1|NA|NA|PLP1 PLP1 Pelizaeus-Merzbacher disease X-linked recessive 300401 312080 X NA FGS5 FGS5 FGS5 FG syndrome 5 None 300581 300581 X NA -TBG SERPINA7 SERPINA7 Thyroxine-binding globulin deficiency None 314200 NA X NA -PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Arts syndrome X-linked recessive 311850 301835 X NA -PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Phosphoribosylpyrophosphate synthetase superactivity X-linked recessive 311850 300661 X NA +TBG|TBGQTL SERPINA7|NA SERPINA7 Thyroxine-binding globulin QTL None 314200 300932 X NA PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Gout, PRPS-related X-linked recessive 311850 300661 X NA PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Deafness, X-linked 1 X-linked 311850 304500 X NA PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Charcot-Marie-Tooth disease, X-linked recessive, 5 X-linked recessive 311850 311070 X NA +PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Arts syndrome X-linked recessive 311850 301835 X NA +PRPS1|CMTX5|DFNX1|DFN2 PRPS1|PRPS1|PRPS1|PRPS1 PRPS1 Phosphoribosylpyrophosphate synthetase superactivity X-linked recessive 311850 300661 X NA MID2|MRX101 MID2|MID2 MID2 ?Mental retardation, X-linked 101 X-linked recessive 300204 300928 X mutation identified in 1 MRX101 family COL4A6|DELXq22.3|CXDELq22.3|DFNX6 COL4A6|NA|NA|NA COL4A6 ?Deafness, X-linked 6 X-linked recessive 303631 300914 X mutation identified in 1 DFNX6 family COL4A5|ATS|ASLN COL4A5|COL4A5|COL4A5 COL4A5 Alport syndrome X-linked dominant 303630 301050 X diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 MRX23 MRX23 MRX23 Mental retardation, X-linked 23 X-linked 300046 300046 X other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80 MYP13 MYP13 MYP13 Myopia 13 None 300613 300613 X between DXS1210 and DXS1227 -ACSL4|FACL4|ACS4|MRX63 ACSL4|ACSL4|ACSL4|ACSL4 ACSL4 Mental retardation, X-linked 63 None 300157 300387 X NA +ACSL4|FACL4|ACS4|MRX63 ACSL4|ACSL4|ACSL4|ACSL4 ACSL4 Mental retardation, X-linked 63 X-linked dominant 300157 300387 X NA CHRDL1|VOPT|MGC1 CHRDL1|NA|CHRDL1 CHRDL1 Megalocornea 1, X-linked X-linked recessive 300350 309300 X NA PAK3|MRX30|MRX47 ARHGEF7,PAK3|PAK3|PAK3 ARHGEF7,PAK3 Mental retardation, X-linked 30/47 X-linked recessive 300142 300558 X NA DCX|DBCN|LISX DCX|DCX|DCX DCX Subcortical laminal heteropia, X-linked X-linked 300121 300067 X NA @@ -6168,16 +6234,17 @@ ALG13|GLT28D1|CDG1S|EIEE36 ALG13|ALG13|NA|NA ALG13 Epileptic encephalopathy, ear PLS3|BMND18 PLS3|NA PLS3 Bone mineral density QTL18, osteoporosis X-linked dominant 300131 300910 X NA SLC6A14|OBX|BMIQ11 SLC6A14|NA|NA SLC6A14 Obesity, susceptibility to, BMIQ11 None 300444 300306 X NA ADFN|ALDS ADFN|NA ADFN Albinism-deafness syndrome X-linked 300700 300700 X ~8cM proximal to F9 -MRX82 MRX82 MRX82 Mental retardation, X-linked 82 None 300518 300518 X between DXS6805 and DXS7346 +MRX82 MRX82 MRX82 Mental retardation, X-linked 82 X-linked recessive 300518 300518 X between DXS6805 and DXS7346 MRX88 AGTR2 AGTR2 Mental retardation, X-linked 88 None 300852 300852 X NA SPG34 SPG34 SPG34 Spastic paraplegia 34, X-linked X-linked recessive 300750 300750 X max lod at DXS8057 UBE2A|RAD6A|MRXSN|MRXS30 UBE2A|UBE2A|NA|NA UBE2A Mental retardation, X-linked syndromic, Nascimento-type X-linked recessive 312180 300860 X NA UPF3B|RENT3B|MRXS14 UPF3B|UPF3B|NA UPF3B Mental retardation, X-linked, syndromic 14 X-linked recessive 300298 300676 X NA RNF113A|ZNF183|TTD5 RNF113A|RNF113A|NA RNF113A ?Trichothiodystrophy 5, nonphotosensitive X-linked dominant 300951 300953 X mutation identified in 1 TTD5 family -NDUFA1|MWFE NDUFA1|NDUFA1 NDUFA1 Mitochondrial complex I deficiency Mitochondrial; Autosomal recessive; X-linked dominant 300078 252010 X NA +NDUFA1|MWFE NDUFA1|NDUFA1 NDUFA1 Mitochondrial complex I deficiency Mitochondrial; X-linked dominant; Autosomal recessive 300078 252010 X NA LAMP2|LAMPB|LGP110 LAMP2|NA|NA LAMP2 Danon disease X-linked dominant 309060 300257 X NA CUL4B|MRXSC|MRXHF2|SFM2|MRXS15 CUL4B|NA|NA|NA|NA CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type) X-linked recessive 300304 300354 X NA C1GALT1C1|COSMC|C1GALT2|TNPS C1GALT1C1|C1GALT1C1|C1GALT1C1|NA C1GALT1C1 Tn polyagglutination syndrome, somatic None 300611 300622 X NA +GLUD2 GLUD2 GLUD2 Parkinson disease, age of onset, modifier Isolated cases; Multifactorial 300144 168600 X NA THAS|TAS THAS,TBXAS1|NA THAS,TBXAS1 Thoracoabdominal syndrome X-linked 313850 313850 X NA GRIA3|GLUR3|MRX94 GRIA3|GRIA3|GRIA3 GRIA3 Mental retardation, X-linked 94 X-linked recessive 305915 300699 X NA THOC2|THO2|MRX12|MRX35 THOC2|THOC2|MRX12|MRX35 THOC2,MRX35,MRX12 Mental retardation, X-linked 12/35 X-linked recessive 300395 300957 X NA @@ -6192,40 +6259,40 @@ OCRL|LOCR|OCRL1|NPHL2 OCRL|NA|OCRL|CLCN5 OCRL,CLCN5 Lowe syndrome X-linked reces OCRL|LOCR|OCRL1|NPHL2 OCRL|NA|OCRL|CLCN5 OCRL,CLCN5 Dent disease 2 X-linked recessive 300535 300555 X NA XPNPEP2|AEACEI XPNPEP2|NA XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to None 300145 300909 X NA ZDHHC9|DHHC9|MRXSZ ZDHHC9|NA|NA ZDHHC9 Mental retardation, X-linked syndromic, Raymond type None 300646 300799 X NA +AIFM1|PDCD8|AIF|COXPD6|COWCK|CMTX4|DFNX5 AIFM1|AIFM1|AIFM1|NA|NA|AIFM1|AUNX1 AUNX1,AIFM1 Deafness, X-linked 5 X-linked recessive 300169 300614 X NA AIFM1|PDCD8|AIF|COXPD6|COWCK|CMTX4|DFNX5 AIFM1|AIFM1|AIFM1|NA|NA|AIFM1|AUNX1 AUNX1,AIFM1 Cowchock syndrome X-linked recessive 300169 310490 X NA AIFM1|PDCD8|AIF|COXPD6|COWCK|CMTX4|DFNX5 AIFM1|AIFM1|AIFM1|NA|NA|AIFM1|AUNX1 AUNX1,AIFM1 Combined oxidative phosphorylation deficiency 6 X-linked recessive 300169 300816 X NA -AIFM1|PDCD8|AIF|COXPD6|COWCK|CMTX4|DFNX5 AIFM1|AIFM1|AIFM1|NA|NA|AIFM1|AUNX1 AUNX1,AIFM1 Deafness, X-linked 5 X-linked recessive 300169 300614 X NA IGSF1|IGDC1|CHTE IGSF1|IGSF1|NA IGSF1 Hypothyroidism, central, and testicular enlargement X-linked recessive 300137 300888 X NA -FRMD7|NYS1|XIPAN FRMD7|FRMD7|NA FRMD7 Nystagmus, infantile periodic alternating, X-linked X-linked 300628 310700 X NA FRMD7|NYS1|XIPAN FRMD7|FRMD7|NA FRMD7 Nystagmus 1, congenital, X-linked X-linked 300628 310700 X NA +FRMD7|NYS1|XIPAN FRMD7|FRMD7|NA FRMD7 Nystagmus, infantile periodic alternating, X-linked X-linked 300628 310700 X NA GPC3|SDYS|SGBS1 GPC3|GPC3|GPC3 GPC3 Wilms tumor, somatic None 300037 194070 X NA GPC3|SDYS|SGBS1 GPC3|GPC3|GPC3 GPC3 Simpson-Golabi-Behmel syndrome, type 1 X-linked recessive 300037 312870 X NA PHF6|BFLS PHF6|PHF6 PHF6 Borjeson-Forssman-Lehmann syndrome X-linked recessive 300414 301900 X NA HPRT1|HPRT HPRT1|HPRT1 HPRT1 Lesch-Nyhan syndrome X-linked recessive 308000 300322 X NA HPRT1|HPRT HPRT1|HPRT1 HPRT1 HPRT-related gout X-linked recessive 308000 300323 X NA SLC9A6|NHE6 SLC9A6|SLC9A6 SLC9A6 Mental retardation, X-linked syndromic, Christianson type X-linked dominant 300231 300243 X NA -FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Emery-Dreifuss muscular dystrophy 6, X-linked X-linked recessive 300163 300696 X NA FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Scapuloperoneal myopathy, X-linked dominant X-linked dominant 300163 300695 X NA FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Reducing body myopathy, X-linked 1b, with late childhood or adult onset X-linked 300163 300718 X NA FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset X-linked dominant 300163 300717 X NA FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Myopathy, X-linked, with postural muscle atrophy X-linked recessive 300163 300696 X NA +FHL1|SLIM1|XMPMA|KYOT|FHL1A|FHL1B|RBMX1A|RBMX1B HPLH1,CFH,FHL1|FHL1|FHL1|NA|NA|FHL1|NA|NA HPLH1,FHL1,CFH Emery-Dreifuss muscular dystrophy 6, X-linked X-linked recessive 300163 300696 X NA TNFSF5|CD40LG|HIGM1|IGM CD40LG|CD40LG|CD40LG|NA CD40LG Immunodeficiency, X-linked, with hyper-IgM X-linked recessive 300386 308230 X Between DSX144E and DSX300 ARHGEF6|MRX46|COOL2 ARHGEF6|ARHGEF6|NA ARHGEF6 Mental retardation, X-linked 46 X-linked recessive 300267 300436 X NA RBMX|MRXS11 RBMX|MRXS11 MRXS11,RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type X-linked recessive 300199 300238 X mutation identified in 1 MRXS11 family GPR101|PAGH2 GPR101|NA GPR101 Pituitary adenoma, growth hormone-secreting 2 None 300393 300943 X NA -ZIC3|HTX1|HTX|VACTERLX ZIC3|ZIC3|ZIC3|NA ZIC3 Congenital heart defects, nonsyndromic, 1, X-linked X-linked recessive 300265 306955 X NA ZIC3|HTX1|HTX|VACTERLX ZIC3|ZIC3|ZIC3|NA ZIC3 VACTERL association, X-linked X-linked recessive 300265 314390 X NA ZIC3|HTX1|HTX|VACTERLX ZIC3|ZIC3|ZIC3|NA ZIC3 Heterotaxy, visceral, 1, X-linked X-linked recessive 300265 306955 X NA +ZIC3|HTX1|HTX|VACTERLX ZIC3|ZIC3|ZIC3|NA ZIC3 Congenital heart defects, nonsyndromic, 1, X-linked X-linked recessive 300265 306955 X NA COD2 COD2,COG6 COD2,COG6 Cone dystrophy, progressive X-linked, 2 X-linked 300085 300085 X NA HTC2|HCG|CGH|CXINSq27.1| HTC2|HTC2,CGA,CGB5|HTC2|NA|NA CGA,CGB5,HTC2 Hypertrichosis, congenital generalized X-linked dominant 307150 307150 X palindrome-mediated interchromosomal insertion at Xq27.1 MCOPS4|ANOP1 ANOP1|ANOP1 ANOP1 ?Microphthalmia, syndromic 4 X-linked 301590 301590 X NA TGCT1 TGCT1 TGCT1 Testicular germ cell tumor None 300228 300228 X NA -F9|HEMB|THPH8 F9|NA|NA F9 Deep venous thrombosis, protection against None 300746 300807 X distal to HPRT; proximal part of Xq27 F9|HEMB|THPH8 F9|NA|NA F9 Thrombophilia, X-linked, due to factor IX defect None 300746 300807 X distal to HPRT; proximal part of Xq27 F9|HEMB|THPH8 F9|NA|NA F9 Hemophilia B X-linked recessive 300746 306900 X distal to HPRT; proximal part of Xq27 F9|HEMB|THPH8 F9|NA|NA F9 Warfarin sensitivity Autosomal dominant 300746 122700 X distal to HPRT; proximal part of Xq27 -SOX3|MRGH SOX3|NA SOX3 Panhypopituitarism, X-linked X-linked 313430 312000 X P mutant in BFLS +F9|HEMB|THPH8 F9|NA|NA F9 Deep venous thrombosis, protection against None 300746 300807 X distal to HPRT; proximal part of Xq27 SOX3|MRGH SOX3|NA SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency None 313430 300123 X P mutant in BFLS +SOX3|MRGH SOX3|NA SOX3 Panhypopituitarism, X-linked X-linked 313430 312000 X P mutant in BFLS DYX9 DYX9 DYX9 Dyslexia, susceptibility to, 9 None 300509 300509 X max lod at DXS8043 FMR1|FRAXA|POF1 FMR1|FMR1,FRAXA|FMR1 FMR1,FRAXA Premature ovarian failure 1 X-linked 309550 311360 X 8-8.7Mb from telomere FMR1|FRAXA|POF1 FMR1|FMR1,FRAXA|FMR1 FMR1,FRAXA Fragile X tremor/ataxia syndrome X-linked dominant 309550 300623 X 8-8.7Mb from telomere @@ -6243,6 +6310,7 @@ HMGB3|HMG4|HMG2A|MCOPS13 HMGB3|HMGB3|HMGB3|NA HMGB3 ?Microphthalmia, syndromic 1 VMA21|XMEA VMA21|VMA21 VMA21 Myopathy, X-linked, with excessive autophagy X-linked recessive 300913 310440 X NA NSDHL NSDHL NSDHL CK syndrome X-linked recessive 300275 300831 X NA NSDHL NSDHL NSDHL CHILD syndrome X-linked dominant 300275 308050 X NA +BGN|SEMDX BGN|NA BGN Spondyloepimetaphyseal dysplasia, X-linked X-linked recessive 301870 300106 X proximal Xq28 ATP2B3|PMCA3|SCAX1 ATP2B3|ATP2B3|ATP2B3 ATP2B3 ?Spinocerebellar ataxia, X-linked 1 X-linked recessive 300014 302500 X mutation identified in 1 family FAM58A|STAR FAM58A|GUCY2C,STAR GUCY2C,STAR,FAM58A STAR syndrome X-linked dominant 300708 300707 X NA SLC6A8|CRTR|CCDS1 SLC6A8|SLC6A8|NA SLC6A8 Cerebral creatine deficiency syndrome 1 X-linked recessive 300036 300352 X distal to G6PD @@ -6250,65 +6318,64 @@ BCAP31|BAP31|DXS1357E|DDCH BCAP31|BCAP31|BCAP31|NA BCAP31 Deafness, dystonia, an ABCD1|ALD|AMN ABCD1|ABCD1|ABCD1,AMN ABCD1,AMN Adrenomyeloneuropathy, adult X-linked recessive 300371 300100 X about 650kb from GCP/RCP ABCD1|ALD|AMN ABCD1|ABCD1|ABCD1,AMN ABCD1,AMN Adrenoleukodystrophy X-linked recessive 300371 300100 X about 650kb from GCP/RCP SSR4|TRAPD|CDG1Y SSR4|SSR4|NA SSR4 ?Congenital disorder of glycosylation, type Iy X-linked recessive 300090 300934 X mutation identified in 1 CDG1Y patient +L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM CRASH syndrome X-linked recessive 308840 303350 X between RCP/GCP cluster and G6PD L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM Corpus callosum, partial agenesis of X-linked 308840 304100 X between RCP/GCP cluster and G6PD L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM MASA syndrome X-linked recessive 308840 303350 X between RCP/GCP cluster and G6PD L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM Hydrocephalus with Hirschsprung disease X-linked recessive 308840 307000 X between RCP/GCP cluster and G6PD L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction X-linked recessive 308840 307000 X between RCP/GCP cluster and G6PD L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM Hydrocephalus due to aqueductal stenosis X-linked recessive 308840 307000 X between RCP/GCP cluster and G6PD -L1CAM|CAML1|HSAS1|MASA|SPG1 L1CAM|NA|L1CAM|ENOPH1,L1CAM|L1CAM ENOPH1,L1CAM CRASH syndrome X-linked recessive 308840 303350 X between RCP/GCP cluster and G6PD -AVPR2|DIR|DI1|ADHR AVPR2|AVPR2|NA|NA AVPR2 Diabetes insipidus, nephrogenic X-linked recessive 300538 304800 X NA AVPR2|DIR|DI1|ADHR AVPR2|AVPR2|NA|NA AVPR2 Nephrogenic syndrome of inappropriate antidiuresis X-linked recessive 300538 300539 X NA +AVPR2|DIR|DI1|ADHR AVPR2|AVPR2|NA|NA AVPR2 Diabetes insipidus, nephrogenic X-linked recessive 300538 304800 X NA NAA10|ARD1A|ARD1|TE2|NATD|OGDNS|MCOPS1 NAA10|NAA10|NAA10,PPP1R8,TRIM23|NAA10|NA|NA|NA PPP1R8,NAA10,TRIM23 Ogden syndrome X-linked recessive; X-linked dominant 300013 300855 X mutation identified in 1 MCOPS1 family NAA10|ARD1A|ARD1|TE2|NATD|OGDNS|MCOPS1 NAA10|NAA10|NAA10,PPP1R8,TRIM23|NAA10|NA|NA|NA PPP1R8,NAA10,TRIM23 ?Microphthalmia, syndromic 1 X-linked 300013 309800 X mutation identified in 1 MCOPS1 family HCFC1|HCF1|MRX3 HCFC1|HCFC1|HCFC1 HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) X-linked recessive 300019 309541 X 50kb distal to V2R -MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Rett syndrome, atypical X-linked dominant 300005 312750 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Rett syndrome X-linked dominant 300005 312750 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Mental retardation, X-linked, syndromic 13 X-linked recessive 300005 300055 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Mental retardation, X-linked syndromic, Lubs type X-linked recessive 300005 300260 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Autism susceptibility, X-linked 3 X-linked; Isolated cases; Multifactorial 300005 300496 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Encephalopathy, neonatal severe X-linked recessive 300005 300673 X 70kb centromeric of RCP/GCP MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Rett syndrome, preserved speech variant X-linked dominant 300005 312750 X 70kb centromeric of RCP/GCP +MECP2|RTT|PPMX|MRX16|MRX79|AUTSX3|MRXSL|MRXS13|MRX79|MRX16 MECP2|MECP2|NA|MECP2|MECP2|NA|NA|NA|MECP2|MECP2 MECP2 Rett syndrome, atypical X-linked dominant 300005 312750 X 70kb centromeric of RCP/GCP OPN1LW|RCP|CBP|CBBM OPN1LW|CRCP,OPN1LW,RAB11FIP1|CREBBP,OPN1LW,PAG1|OPN1LW,OPN1MW CRCP,PAG1,RAB11FIP1,OPN1LW,OPN1MW,CREBBP Colorblindness, protan X-linked 300822 303900 X 5' to CBD OPN1LW|RCP|CBP|CBBM OPN1LW|CRCP,OPN1LW,RAB11FIP1|CREBBP,OPN1LW,PAG1|OPN1LW,OPN1MW CRCP,PAG1,RAB11FIP1,OPN1LW,OPN1MW,CREBBP Blue cone monochromacy X-linked recessive 300822 303700 X 5' to CBD -OPN1MW|GCP|CBD|CBBM OPN1MW|GOLGB1,OPN1MW|OPN1MW|OPN1LW,OPN1MW OPN1MW,GOLGB1,OPN1LW Colorblindness, deutan X-linked 300821 303800 X linked to G6PD; multiple genes OPN1MW|GCP|CBD|CBBM OPN1MW|GOLGB1,OPN1MW|OPN1MW|OPN1LW,OPN1MW OPN1MW,GOLGB1,OPN1LW Blue cone monochromacy X-linked recessive 300821 303700 X linked to G6PD; multiple genes -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Heterotopia, periventricular, ED variant None 300017 300537 X NA +OPN1MW|GCP|CBD|CBBM OPN1MW|GOLGB1,OPN1MW|OPN1MW|OPN1LW,OPN1MW OPN1MW,GOLGB1,OPN1LW Colorblindness, deutan X-linked 300821 303800 X linked to G6PD; multiple genes FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Terminal osseous dysplasia None 300017 300244 X NA -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Heterotopia, periventricular X-linked dominant 300017 300049 X NA -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Otopalatodigital syndrome, type II X-linked dominant 300017 304120 X NA FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Frontometaphyseal dysplasia X-linked recessive 300017 305620 X NA -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Otopalatodigital syndrome, type I X-linked dominant 300017 311300 X NA +FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Otopalatodigital syndrome, type II X-linked dominant 300017 304120 X NA FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA FG syndrome 2 None 300017 300321 X NA -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Melnick-Needles syndrome X-linked dominant 300017 309350 X NA +FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Otopalatodigital syndrome, type I X-linked dominant 300017 311300 X NA FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Congenital short bowel syndrome X-linked recessive 300017 300048 X NA -FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Intestinal pseudoobstruction, neuronal X-linked recessive 300017 300048 X NA +FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Melnick-Needles syndrome X-linked dominant 300017 309350 X NA FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Cardiac valvular dysplasia, X-linked X-linked recessive 300017 314400 X NA +FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Intestinal pseudoobstruction, neuronal X-linked recessive 300017 300048 X NA +FLNA|FLN1|NHBP|OPD1|OPD2|FMD|MNS|CVD1|CSBS FLNA|FLNA|NA|FLNA|FLNA|FSHMD1A|GYPA,GYPB,GYPE|NA|NA FLNA,GYPB,FSHMD1A,GYPE,GYPA Heterotopia, periventricular X-linked dominant 300017 300049 X NA EMD|EDMD|STA EMD|NA|GCY,EMD GCY,EMD Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive 300384 310300 X in distal Xq28 RPL10|DXS648|QM|AUTSX5 RPL10,RPL15|RPL10|RPL10|NA RPL15,RPL10 Autism, susceptibility to, X-linked 5 None 312173 300847 X NA TAZ|EFE2|BTHS|CMD3A|LVNCX TAZ,WWTR1|TAZ|TAZ|TAZ|NA WWTR1,TAZ Barth syndrome X-linked recessive 300394 302060 X NA ATP6AP1|ATP6IP1|ATP6S1|VATPS1 ATP6AP1|ATP6AP1|ATP6AP1|ATP6AP1 ATP6AP1 Immunodeficiency 47 X-linked recessive 300197 300972 X NA -GDI1|RABGD1A|MRX41|MRX48 GDI1|NA|GDI1|GDI1 GDI1 Mental retardation, X-linked 41 None 300104 300849 X NA -G6PD|G6PD1 G6PD|G6PD G6PD Resistance to malaria due to G6PD deficiency None 305900 611162 X NA +GDI1|RABGD1A|MRX41|MRX48 GDI1|NA|GDI1|GDI1 GDI1 Mental retardation, X-linked 41 X-linked dominant 300104 300849 X NA G6PD|G6PD1 G6PD|G6PD G6PD Hemolytic anemia due to G6PD deficiency None 305900 300908 X NA G6PD|G6PD1 G6PD|G6PD G6PD Favism Autosomal dominant 305900 134700 X NA -IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency None 300248 300301 X NA -IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Ectodermal dysplasia, hypohidrotic, with immune deficiency None 300248 300291 X NA -IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Invasive pneumococcal disease, recurrent isolated, 2 None 300248 300640 X NA +G6PD|G6PD1 G6PD|G6PD G6PD Resistance to malaria due to G6PD deficiency None 305900 611162 X NA IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Incontinentia pigmenti X-linked dominant 300248 308300 X NA IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Immunodeficiency, isolated None 300248 300584 X NA IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Immunodeficiency 33 X-linked recessive 300248 300636 X NA +IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency None 300248 300301 X NA +IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Ectodermal dysplasia, hypohidrotic, with immune deficiency None 300248 300291 X NA +IKBKG|NEMO|FIP3|IP|IPD2|AMCBX1|IMD33 IKBKG|IKBKG|IKBKG|ATPIF1,PTGIR|NA|NA|NA ATPIF1,IKBKG,PTGIR Invasive pneumococcal disease, recurrent isolated, 2 None 300248 300640 X NA DKC1|DKCX DKC1|NA DKC1 Dyskeratosis congenita, X-linked X-linked recessive 300126 305000 X NA F8|F8C|HEMA F8|F8|F8 F8 Hemophilia A X-linked recessive 300841 306700 X cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere RAB39B|MRX72|WSMN RAB39B|RAB39B|NA RAB39B Mental retardation, X-linked 72 X-linked recessive 300774 300271 X mutation identified in 1 WSMN family RAB39B|MRX72|WSMN RAB39B|RAB39B|NA RAB39B ?Waisman syndrome X-linked recessive 300774 311510 X mutation identified in 1 WSMN family CLIC2|XAP121|MRXS32 CLIC2|CLIC2|NA CLIC2 ?Mental retardation, X-linked, syndromic 32 X-linked recessive 300138 300886 X mutation identified in 1 MRXS32 family TMLHE|BBOX2|TMLH|TMLHED|AUTSX6 TMLHE|TMLHE|TMLHE|NA|NA TMLHE Autism, susceptibility to, X-linked 6 X-linked recessive 300777 300872 X NA -MRX95 MAGT1 MAGT1 Mental retardation, X-linked 95 None 300716 300716 X NA -SHOXY SHOX SHOX Leri-Weill dyschondrosteosis Autosomal dominant 400020 127300 Y pseudoautosomal +MRX95 MAGT1 MAGT1 Mental retardation, X-linked 95 X-linked dominant 300716 300716 X NA SHOXY SHOX SHOX Langer mesomelic dysplasia Autosomal recessive 400020 249700 Y pseudoautosomal SHOXY SHOX SHOX Short stature, idiopathic familial None 400020 300582 Y pseudoautosomal -SRY|TDF|TDY|SRXX1|SRXY1 SRY|SRY|NA|NA|NA SRY 46XX sex reversal 1 None 480000 400045 Y NA +SHOXY SHOX SHOX Leri-Weill dyschondrosteosis Autosomal dominant 400020 127300 Y pseudoautosomal SRY|TDF|TDY|SRXX1|SRXY1 SRY|SRY|NA|NA|NA SRY 46XY sex reversal 1 None 480000 400044 Y NA +SRY|TDF|TDY|SRXX1|SRXY1 SRY|SRY|NA|NA|NA SRY 46XX sex reversal 1 None 480000 400045 Y NA USP9Y|DFFRY|SPGFY2 USP9Y|USP9Y|NA USP9Y Spermatogenic failure, Y-linked, 2 Y-linked 400005 415000 Y NA DAZ DAZ1 DAZ1 ?Sertoli-cell-only syndrome None 400003 NA Y ?same as AZF DFNY1 DFNY1 DFNY1 Deafness, Y-linked 1 None 400043 NA Y NA