ZDB-GENE-030912-4 aaas 8086 AAAS triple-A syndrome DOID:0050602 Achalasia-addisonianism-alacrimia syndrome 231550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-120 aagab 79719 AAGAB punctate palmoplantar keratoderma type 1A DOID:0080214 Keratoderma, palmoplantar, punctate type IA 148600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3663 aars1 16 AARS1 Charcot-Marie-Tooth disease axonal type 2N DOID:0110177 Charcot-Marie-Tooth disease, axonal, type 2N 613287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3663 aars1 16 AARS1 early infantile epileptic encephalopathy 29 DOID:0080451 Epileptic encephalopathy, early infantile, 29 616339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-213 aars2 57505 AARS2 Leukoencephalopathy, progressive, with ovarian failure 615889 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-213 aars2 57505 AARS2 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 8 614096 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-8 aass 10157 AASS Saccharopinuria 268700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-8 aass 10157 AASS hyperlysinemia DOID:9274 Hyperlysinemia 238700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-4 abat 18 ABAT GABA aminotransferase deficiency DOID:0060174 GABA-transaminase deficiency 613163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9790 abca12 26154 ABCA12 autosomal recessive congenital ichthyosis 4A DOID:0060712 Ichthyosis, congenital, autosomal recessive 4A 601277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9790 abca12 26154 ABCA12 autosomal recessive congenital ichthyosis 4B DOID:0060713 Ichthyosis, congenital, autosomal recessive 4B (harlequin) 242500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-12 abca1a 19 ABCA1 HDL deficiency, familial, 1 604091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-12 abca1a 19 ABCA1 Tangier disease DOID:1388 Tangier disease 205400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9826 abca1b 19 ABCA1 HDL deficiency, familial, 1 604091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9826 abca1b 19 ABCA1 Tangier disease DOID:1388 Tangier disease 205400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121203-1 abca3a 21 ABCA3 pulmonary alveolar proteinosis DOID:12120 Surfactant metabolism dysfunction, pulmonary, 3 610921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-2 abca3b 21 ABCA3 pulmonary alveolar proteinosis DOID:12120 Surfactant metabolism dysfunction, pulmonary, 3 610921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 age related macular degeneration 2 DOID:0110015 {Macular degeneration, age-related, 2} 153800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 cone-rod dystrophy 3 DOID:0111013 Cone-rod dystrophy 3 604116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 retinitis pigmentosa 19 DOID:0110354 Retinitis pigmentosa 19 601718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 Stargardt disease DOID:0050817 Fundus flavimaculatus 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 Stargardt disease DOID:0050817 Retinal dystrophy, early-onset severe 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-3 abca4a 24 ABCA4 Stargardt disease DOID:0050817 Stargardt disease 1 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 age related macular degeneration 2 DOID:0110015 {Macular degeneration, age-related, 2} 153800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 cone-rod dystrophy 3 DOID:0111013 Cone-rod dystrophy 3 604116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 retinitis pigmentosa 19 DOID:0110354 Retinitis pigmentosa 19 601718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 Stargardt disease DOID:0050817 Fundus flavimaculatus 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 Stargardt disease DOID:0050817 Retinal dystrophy, early-onset severe 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-4 abca4b 24 ABCA4 Stargardt disease DOID:0050817 Stargardt disease 1 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-5 abca5 23461 ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia 135400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-6 abca7 10347 ABCA7 {Alzheimer disease 9, susceptibility to} 608907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-13 abcb11a 8647 ABCB11 benign recurrent intrahepatic cholestasis 2 DOID:0070232 Cholestasis, benign recurrent intrahepatic, 2 605479 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-13 abcb11a 8647 ABCB11 progressive familial intrahepatic cholestasis 2 DOID:0070222 Cholestasis, progressive familial intrahepatic 2 601847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-14 abcb11b 8647 ABCB11 benign recurrent intrahepatic cholestasis 2 DOID:0070232 Cholestasis, benign recurrent intrahepatic, 2 605479 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-14 abcb11b 8647 ABCB11 progressive familial intrahepatic cholestasis 2 DOID:0070222 Cholestasis, progressive familial intrahepatic 2 601847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5243 ABCB1 {Colchicine resistance} 120080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5243 ABCB1 cholecystitis DOID:1949 Gallbladder disease 1 600803 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5243 ABCB1 inflammatory bowel disease 13 DOID:0110893 {Inflammatory bowel disease 13} 612244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5243 ABCB1 intrahepatic cholestasis of pregnancy 3 DOID:0070229 Cholestasis, intrahepatic, of pregnancy, 3 614972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5243 ABCB1 progressive familial intrahepatic cholestasis 3 DOID:0070223 Cholestasis, progressive familial intrahepatic 3 602347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5244 ABCB4 {Colchicine resistance} 120080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5244 ABCB4 cholecystitis DOID:1949 Gallbladder disease 1 600803 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5244 ABCB4 inflammatory bowel disease 13 DOID:0110893 {Inflammatory bowel disease 13} 612244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5244 ABCB4 intrahepatic cholestasis of pregnancy 3 DOID:0070229 Cholestasis, intrahepatic, of pregnancy, 3 614972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-52 abcb4 5244 ABCB4 progressive familial intrahepatic cholestasis 3 DOID:0070223 Cholestasis, progressive familial intrahepatic 3 602347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-9 abcb6a 10058 ABCB6 [Blood group, Langereis system] 111600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-9 abcb6a 10058 ABCB6 Microphthalmia, isolated, with coloboma 7 614497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-9 abcb6a 10058 ABCB6 Pseudohyperkalemia, familial, 2, due to red cell leak 609153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-9 abcb6a 10058 ABCB6 dyschromatosis universalis hereditaria DOID:0060304 Dyschromatosis universalis hereditaria 3 615402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-584 abcb6b 10058 ABCB6 [Blood group, Langereis system] 111600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-584 abcb6b 10058 ABCB6 Microphthalmia, isolated, with coloboma 7 614497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-584 abcb6b 10058 ABCB6 Pseudohyperkalemia, familial, 2, due to red cell leak 609153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-584 abcb6b 10058 ABCB6 dyschromatosis universalis hereditaria DOID:0060304 Dyschromatosis universalis hereditaria 3 615402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-10 abcb7 22 ABCB7 X-linked sideroblastic anemia with ataxia DOID:0050554 Anemia, sideroblastic, with ataxia 301310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1523 abcc2 1244 ABCC2 Dubin-Johnson syndrome DOID:12308 Dubin-Johnson syndrome 237500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-18 abcc6a 368 ABCC6 arterial calcification of infancy DOID:0050644 Arterial calcification, generalized, of infancy, 2 614473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-18 abcc6a 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum 264800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-18 abcc6a 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum, forme fruste 177850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-19 abcc6b.1 368 ABCC6 arterial calcification of infancy DOID:0050644 Arterial calcification, generalized, of infancy, 2 614473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-19 abcc6b.1 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum 264800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-19 abcc6b.1 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum, forme fruste 177850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-2 abcc6b.2 368 ABCC6 arterial calcification of infancy DOID:0050644 Arterial calcification, generalized, of infancy, 2 614473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-2 abcc6b.2 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum 264800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-2 abcc6b.2 368 ABCC6 pseudoxanthoma elasticum DOID:2738 Pseudoxanthoma elasticum, forme fruste 177850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-22 abcc8 6833 ABCC8 Hypoglycemia of infancy, leucine-sensitive 240800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-22 abcc8 6833 ABCC8 familial hyperinsulinemic hypoglycemia 1 DOID:0070219 Hyperinsulinemic hypoglycemia, familial, 1 256450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-22 abcc8 6833 ABCC8 permanent neonatal diabetes mellitus DOID:0060639 Diabetes mellitus, permanent neonatal 606176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-22 abcc8 6833 ABCC8 transient neonatal diabetes mellitus DOID:0060334 Diabetes mellitus, transient neonatal 2 610374 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-22 abcc8 6833 ABCC8 type 2 diabetes mellitus DOID:9352 Diabetes mellitus, noninsulin-dependent 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-45 abcc8b 6833 ABCC8 Hypoglycemia of infancy, leucine-sensitive 240800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-45 abcc8b 6833 ABCC8 familial hyperinsulinemic hypoglycemia 1 DOID:0070219 Hyperinsulinemic hypoglycemia, familial, 1 256450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-45 abcc8b 6833 ABCC8 permanent neonatal diabetes mellitus DOID:0060639 Diabetes mellitus, permanent neonatal 606176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-45 abcc8b 6833 ABCC8 transient neonatal diabetes mellitus DOID:0060334 Diabetes mellitus, transient neonatal 2 610374 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-45 abcc8b 6833 ABCC8 type 2 diabetes mellitus DOID:9352 Diabetes mellitus, noninsulin-dependent 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-23 abcc9 10060 ABCC9 dilated cardiomyopathy 1O DOID:0110451 Cardiomyopathy, dilated, 1O 608569 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-23 abcc9 10060 ABCC9 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 12 614050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-23 abcc9 10060 ABCC9 hypertrichotic osteochondrodysplasia Cantu type DOID:0060569 Hypertrichotic osteochondrodysplasia 239850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-27 abcd1 215 ABCD1 adrenoleukodystrophy DOID:10588 Adrenoleukodystrophy 300100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-27 abcd1 215 ABCD1 adrenoleukodystrophy DOID:10588 Adrenomyeloneuropathy, adult 300100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2868 abcd3a 5825 ABCD3 congenital bile acid synthesis defect 5 DOID:0111066 ?Bile acid synthesis defect, congenital, 5 616278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-29 abcd3b 5825 ABCD3 congenital bile acid synthesis defect 5 DOID:0111066 ?Bile acid synthesis defect, congenital, 5 616278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-30 abcd4 5826 ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type 614857 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-38 abcg2d 9429 ABCG2 [Junior blood group system] 614490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-38 abcg2d 9429 ABCG2 [Uric acid concentration, serum, QTL1] 138900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-40 abcg5 64240 ABCG5 sitosterolemia DOID:0090019 Sitosterolemia 210250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-41 abcg8 64241 ABCG8 gallbladder disease DOID:0060262 {Gallbladder disease 4} 611465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-41 abcg8 64241 ABCG8 sitosterolemia DOID:0090019 Sitosterolemia 210250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-268 abhd12 26090 ABHD12 PHARC syndrome DOID:0080181 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-1 abhd5a 51099 ABHD5 neutral lipid storage disease DOID:0050729 Chanarin-Dorfman syndrome 275630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-277 abhd5b 51099 ABHD5 neutral lipid storage disease DOID:0050729 Chanarin-Dorfman syndrome 275630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100812-9 abl1 25 ABL1 Congenital heart defects and skeletal malformations syndrome 617602 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100812-9 abl1 25 ABL1 chronic myeloid leukemia DOID:8552 Leukemia, Philadelphia chromosome-positive, resistant to imatinib 608232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020809-2 abl2 27 ABL2 Leukemia, acute myeloid, with eosinophilia ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-23 abo 28 ABO [Blood group, ABO system] 616093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-74 acaca 31 ACACA Acetyl-CoA carboxylase deficiency 613933 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-828 acad8 27034 ACAD8 Isobutyryl-CoA dehydrogenase deficiency 611283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-196 acad9 28976 ACAD9 Mitochondrial complex I deficiency, nuclear type 20 611126 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1945 acadm 34 ACADM medium chain acyl-CoA dehydrogenase deficiency DOID:0080153 Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-64 acads 35 ACADS short chain acyl-CoA dehydrogenase deficiency DOID:0080154 Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-109 acadsb 36 ACADSB 2-methylbutyrylglycinuria 610006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-899 acadvl 37 ACADVL very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 VLCAD deficiency 201475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-221 acana 176 ACAN Spondyloepimetaphyseal dysplasia, aggrecan type 612813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-221 acana 176 ACAN ?Spondyloepiphyseal dysplasia, Kimberley type 608361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-221 acana 176 ACAN osteochondritis dissecans DOID:84 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 165800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100422-16 acanb 176 ACAN Spondyloepimetaphyseal dysplasia, aggrecan type 612813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100422-16 acanb 176 ACAN ?Spondyloepiphyseal dysplasia, Kimberley type 608361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100422-16 acanb 176 ACAN osteochondritis dissecans DOID:84 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 165800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-68 acat1 38 ACAT1 beta-ketothiolase deficiency DOID:14723 Alpha-methylacetoacetic aciduria 203750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-22 acat2 39 ACAT2 ?ACAT2 deficiency 614055 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-45 acd 65057 ACD autosomal dominant dyskeratosis congenita 6 DOID:0070023 ?Dyskeratosis congenita, autosomal dominant 6 616553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-45 acd 65057 ACD autosomal dominant dyskeratosis congenita 6 DOID:0070023 ?Dyskeratosis congenita, autosomal recessive 7 616553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE [Angiotensin I-converting enzyme, benign serum increase] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE {Microvascular complications of diabetes 3} 612624 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE {Myocardial infarction, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE Renal tubular dysgenesis 267430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE {SARS, progression of} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1826 ace 1636 ACE {Stroke, hemorrhagic} 614519 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-155 acer3 55331 ACER3 ?Leukodystrophy, progressive, early childhood-onset 617762 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010906-1 ache 43 ACHE [Blood group, Yt system] 112100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1390 aco2 50 ACO2 ?Optic atrophy 9 616289 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1390 aco2 50 ACO2 infantile cerebellar-retinal degeneration DOID:0050883 Infantile cerebellar-retinal degeneration 614559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-219 acox1 51 ACOX1 peroxisomal acyl-CoA oxidase deficiency DOID:0050797 Peroxisomal acyl-CoA oxidase deficiency 264470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-40 acp2 53 ACP2 ?Lysosomal acid phosphatase deficiency 200950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2864 acp5a 54 ACP5 Spondyloenchondrodysplasia with immune dysregulation 607944 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-151 acp5b 54 ACP5 Spondyloenchondrodysplasia with immune dysregulation 607944 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121026-3 acsf3 197322 ACSF3 combined malonic and methylmalonic acidemia DOID:0111263 Combined malonic and methylmalonic aciduria 614265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1565 acsl4a 2182 ACSL4 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 63 300387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6493 acsl4b 2182 ACSL4 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 63 300387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6776 acsl6 23305 ACSL6 Myelodysplastic syndrome ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6776 acsl6 23305 ACSL6 Myelogenous leukemia, acute ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-22 acsm3 6296 ACSM3 {?Hypertension, essential} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-267 acta1a 58 ACTA1 ?Myopathy, scapulohumeroperoneal 616852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-267 acta1a 58 ACTA1 congenital fiber-type disproportion DOID:0080102 Myopathy, congenital, with fiber-type disproportion 1 255310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-267 acta1a 58 ACTA1 nemaline myopathy 3 DOID:0110927 Myopathy, actin, congenital, with cores 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-267 acta1a 58 ACTA1 nemaline myopathy 3 DOID:0110927 Myopathy, actin, congenital, with excess of thin myofilaments 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-267 acta1a 58 ACTA1 nemaline myopathy 3 DOID:0110927 Nemaline myopathy 3, autosomal dominant or recessive 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-55 acta1b 58 ACTA1 ?Myopathy, scapulohumeroperoneal 616852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-55 acta1b 58 ACTA1 congenital fiber-type disproportion DOID:0080102 Myopathy, congenital, with fiber-type disproportion 1 255310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-55 acta1b 58 ACTA1 nemaline myopathy 3 DOID:0110927 Myopathy, actin, congenital, with cores 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-55 acta1b 58 ACTA1 nemaline myopathy 3 DOID:0110927 Myopathy, actin, congenital, with excess of thin myofilaments 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-55 acta1b 58 ACTA1 nemaline myopathy 3 DOID:0110927 Nemaline myopathy 3, autosomal dominant or recessive 161800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1229 acta2 59 ACTA2 Multisystemic smooth muscle dysfunction syndrome 613834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1229 acta2 59 ACTA2 Moyamoya disease DOID:13099 Moyamoya disease 5 614042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1229 acta2 59 ACTA2 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 6 611788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-1 actb1 60 ACTB ?Dystonia, juvenile-onset 607371 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-1 actb1 60 ACTB Baraitser-Winter syndrome DOID:0060229 Baraitser-Winter syndrome 1 243310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-3 actb2 60 ACTB ?Dystonia, juvenile-onset 607371 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-3 actb2 60 ACTB Baraitser-Winter syndrome DOID:0060229 Baraitser-Winter syndrome 1 243310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040520-4 actc1a 70 ACTC1 atrial heart septal defect 5 DOID:0110110 Atrial septal defect 5 612794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040520-4 actc1a 70 ACTC1 dilated cardiomyopathy 1R DOID:0110456 Cardiomyopathy, dilated, 1R 613424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040520-4 actc1a 70 ACTC1 dilated cardiomyopathy 1R DOID:0110456 Left ventricular noncompaction 4 613424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040520-4 actc1a 70 ACTC1 hypertrophic cardiomyopathy 11 DOID:0110317 Cardiomyopathy, hypertrophic, 11 612098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000322-1 actc1b 70 ACTC1 atrial heart septal defect 5 DOID:0110110 Atrial septal defect 5 612794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000322-1 actc1b 70 ACTC1 dilated cardiomyopathy 1R DOID:0110456 Cardiomyopathy, dilated, 1R 613424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000322-1 actc1b 70 ACTC1 dilated cardiomyopathy 1R DOID:0110456 Left ventricular noncompaction 4 613424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000322-1 actc1b 70 ACTC1 hypertrophic cardiomyopathy 11 DOID:0110317 Cardiomyopathy, hypertrophic, 11 612098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-191 actl6b 51412 ACTL6B Epileptic encephalopathy, early infantile, 76 618468 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-191 actl6b 51412 ACTL6B Intellectual developmental disorder with severe speech and ambulation defects 618470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081113-4 actn1 87 ACTN1 platelet-type bleeding disorder 15 DOID:0111053 Bleeding disorder, platelet-type, 15 615193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141114-2 actn2a 88 ACTN2 dilated cardiomyopathy 1AA DOID:0110428 Cardiomyopathy, dilated, 1AA, with or without LVNC 612158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141114-2 actn2a 88 ACTN2 dilated cardiomyopathy 1AA DOID:0110428 Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-39 actn2b 88 ACTN2 dilated cardiomyopathy 1AA DOID:0110428 Cardiomyopathy, dilated, 1AA, with or without LVNC 612158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-39 actn2b 88 ACTN2 dilated cardiomyopathy 1AA DOID:0110428 Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-9 actn3a 89 ACTN3 [Alpha-actinin-3 deficiency] 617749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-9 actn3a 89 ACTN3 [Sprinting performance] 617749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2040 actn3b 89 ACTN3 [Alpha-actinin-3 deficiency] 617749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2040 actn3b 89 ACTN3 [Sprinting performance] 617749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-940 actn4 81 ACTN4 focal segmental glomerulosclerosis 1 DOID:0111128 Glomerulosclerosis, focal segmental, 1 603278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-527 acvr1ba 91 ACVR1B Pancreatic cancer, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131120-9 acvr1bb 91 ACVR1B Pancreatic cancer, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-549 acvr2ba 93 ACVR2B visceral heterotaxy DOID:0050545 Heterotaxy, visceral, 4, autosomal 613751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170621-5 acvr2bb 93 ACVR2B visceral heterotaxy DOID:0050545 Heterotaxy, visceral, 4, autosomal 613751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021003-1 acvrl1 94 ACVRL1 hereditary hemorrhagic telangiectasia DOID:1270 Telangiectasia, hereditary hemorrhagic, type 2 600376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-755 acy1 95 ACY1 Aminoacylase 1 deficiency 609924 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-393 ada 100 ADA adenosine deaminase deficiency DOID:5810 Adenosine deaminase deficiency, partial 102700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-393 ada 100 ADA adenosine deaminase deficiency DOID:5810 Severe combined immunodeficiency due to ADA deficiency 102700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030902-4 ada2a 51816 ADA2 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 615688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030902-4 ada2a 51816 ADA2 Sneddon syndrome DOID:13096 ?Sneddon syndrome 182410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-77 ada2b 51816 ADA2 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 615688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-77 ada2b 51816 ADA2 Sneddon syndrome DOID:13096 ?Sneddon syndrome 182410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040917-2 adam10a 102 ADAM10 Alzheimer's disease 18 DOID:0110050 {Alzheimer disease 18, susceptibility to} 615590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040917-2 adam10a 102 ADAM10 reticulate acropigmentation of Kitamura DOID:0060258 Reticulate acropigmentation of Kitamura 615537 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071115-1 adam10b 102 ADAM10 Alzheimer's disease 18 DOID:0110050 {Alzheimer disease 18, susceptibility to} 615590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071115-1 adam10b 102 ADAM10 reticulate acropigmentation of Kitamura DOID:0060258 Reticulate acropigmentation of Kitamura 615537 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2862 adam17a 6868 ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1 614328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-199 adam17b 6868 ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1 614328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070810-1 adam22 53616 ADAM22 early infantile epileptic encephalopathy 61 DOID:0080434 ?Epileptic encephalopathy, early infantile, 61 617933 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-127 adam9 8754 ADAM9 cone-rod dystrophy 9 DOID:0111020 Cone-rod dystrophy 9 612775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-414 adamts10 81794 ADAMTS10 Weill-Marchesani syndrome DOID:0050475 Weill-Marchesani syndrome 1, recessive 277600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070814-7 adamts13 11093 ADAMTS13 thrombotic thrombocytopenic purpura DOID:10772 Thrombotic thrombocytopenic purpura, familial 274150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121030-7 adamts17 170691 ADAMTS17 Weill-Marchesani syndrome DOID:0050475 Weill-Marchesani 4 syndrome, recessive 613195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070815-1 adamts18 170692 ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus 615458 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070816-3 adamts2 9509 ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type 225410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110223-1 adamts3 9508 ADAMTS3 Hennekam lymphangiectasia-lymphedema syndrome 3 618154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-558 adamtsl2 9719 ADAMTSL2 Geleophysic dysplasia 1 231050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070815-2 adamtsl4 54507 ADAMTSL4 Ectopia lentis et pupillae 225200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070815-2 adamtsl4 54507 ADAMTSL4 autosomal recessive isolated ectopia lentis 2 DOID:0111149 Ectopia lentis, isolated, autosomal recessive 225100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-5 adar 103 ADAR Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 6 615010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-5 adar 103 ADAR dyschromatosis symmetrica hereditaria DOID:0060257 Dyschromatosis symmetrica hereditaria 127400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-531 adat3 113179 ADAT3 Mental retardation, autosomal recessive 36 615286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-302 adcy1a 107 ADCY1 autosomal recessive nonsyndromic deafness 44 DOID:0110501 ?Deafness, autosomal recessive 44 610154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100805-1 adcy1b 107 ADCY1 autosomal recessive nonsyndromic deafness 44 DOID:0110501 ?Deafness, autosomal recessive 44 610154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111027-6 adcy3a 109 ADCY3 {Obesity, susceptibility to, BMIQ19} 617885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-276 adcy3b 109 ADCY3 {Obesity, susceptibility to, BMIQ19} 617885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-470 adcy5 111 ADCY5 Dyskinesia, familial, with facial myokymia 606703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060221-1 adcy6a 112 ADCY6 ?Lethal congenital contracture syndrome 8 616287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090127-2 adcy6b 112 ADCY6 ?Lethal congenital contracture syndrome 8 616287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-2 add1 118 ADD1 essential hypertension DOID:10825 {Hypertension, essential, salt-sensitive} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2721 add3a 120 ADD3 Cerebral palsy, spastic quadriplegic, 3 617008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080718-6 add3b 120 ADD3 Cerebral palsy, spastic quadriplegic, 3 617008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3671 adgrg1 9289 ADGRG1 Polymicrogyria, bilateral frontoparietal 606854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3671 adgrg1 9289 ADGRG1 Polymicrogyria, bilateral perisylvian 615752 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-206 adgrg2a 10149 ADGRG2 Congenital bilateral absence of vas deferens, X-linked 300985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-119 adgrg2b 10149 ADGRG2 Congenital bilateral absence of vas deferens, X-linked 300985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-357 adgrg6 57211 ADGRG6 Lethal congenital contracture syndrome 9 616503 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-6 adgrv1 84059 ADGRV1 familial febrile seizures 4 DOID:0111305 ?Febrile seizures, familial, 4 604352 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-6 adgrv1 84059 ADGRV1 Usher syndrome type 2C DOID:0110839 Usher syndrome, type 2C 605472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-6 adgrv1 84059 ADGRV1 Usher syndrome type 2C DOID:0110839 Usher syndrome, type 2C, GPR98/PDZD7 digenic 605472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080423-2 adipoqa 9370 ADIPOQ Adiponectin deficiency 612556 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-220 adipoqb 9370 ADIPOQ Adiponectin deficiency 612556 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030425-3 adka 132 ADK hypermethioninemia due to adenosine kinase deficiency DOID:0111038 Hypermethioninemia due to adenosine kinase deficiency 614300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-948 adkb 132 ADK hypermethioninemia due to adenosine kinase deficiency DOID:0111038 Hypermethioninemia due to adenosine kinase deficiency 614300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-112 adnpa 23394 ADNP Helsmoortel-Van Der Aa Syndrome DOID:0070058 Helsmoortel-van der Aa syndrome 615873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6385 adnpb 23394 ADNP Helsmoortel-Van Der Aa Syndrome DOID:0070058 Helsmoortel-van der Aa syndrome 615873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-85 adprhl2 54936 ADPRHL2 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 618170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021010-2 adra2b 151 ADRA2B Epilepsy, myoclonic, familial adult, 2 607876 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021010-3 adra2c 152 ADRA2C {Congestive heart failure and beta-blocker response, modifier of} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-145 adrb1 153 ADRB1 {Congestive heart failure and beta-blocker response, modifier of} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-145 adrb1 153 ADRB1 [Resting heart rate] 607276 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100414-3 adrb2a 154 ADRB2 {Asthma, nocturnal, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100414-3 adrb2a 154 ADRB2 Beta-2-adrenoreceptor agonist, reduced response to ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100414-3 adrb2a 154 ADRB2 obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-32 adrb2b 154 ADRB2 {Asthma, nocturnal, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-32 adrb2b 154 ADRB2 Beta-2-adrenoreceptor agonist, reduced response to ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-32 adrb2b 154 ADRB2 obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-21 adrb3a 155 ADRB3 obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-154 adrb3b 155 ADRB3 obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6363 adsl 158 ADSL adenylosuccinase lyase deficiency DOID:0050762 Adenylosuccinase deficiency 103050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040516-18 adss1 122622 ADSS1 Myopathy, distal, 5 617030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2390 aebp1 165 AEBP1 Ehlers-Danlos syndrome, classic-like, 2 618000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-190 aff2 2334 AFF2 Mental retardation, X-linked, FRAXE type 309548 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100910-5 aff4 27125 AFF4 CHOPS syndrome 616368 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-46 afg3l2 10939 AFG3L2 spastic ataxia 5 DOID:0050944 Spastic ataxia 5, autosomal recessive 614487 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-46 afg3l2 10939 AFG3L2 spinocerebellar ataxia type 28 DOID:0050977 Spinocerebellar ataxia 28 610246 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2311 aga 175 AGA aspartylglucosaminuria DOID:0050461 Aspartylglucosaminuria 208400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110207-1 agbl1 123624 AGBL1 Fuchs' endothelial dystrophy DOID:11555 Corneal dystrophy, Fuchs endothelial, 8 615523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-29 agbl5 60509 AGBL5 retinitis pigmentosa 75 DOID:0110361 Retinitis pigmentosa 75 617023 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6202 agk 55750 AGK cataract 38 DOID:0110245 Cataract 38, autosomal recessive 614691 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6202 agk 55750 AGK Sengers syndrome DOID:0080132 Sengers syndrome 212350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-6 agla 178 AGL glycogen storage disease III DOID:2748 Glycogen storage disease IIIa 232400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-6 agla 178 AGL glycogen storage disease III DOID:2748 Glycogen storage disease IIIb 232400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-54 aglb 178 AGL glycogen storage disease III DOID:2748 Glycogen storage disease IIIa 232400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-54 aglb 178 AGL glycogen storage disease III DOID:2748 Glycogen storage disease IIIb 232400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-541 agpat2 10555 AGPAT2 congenital generalized lipodystrophy type 1 DOID:0111135 Lipodystrophy, congenital generalized, type 1 608594 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-14 agps 8540 AGPS rhizomelic chondrodysplasia punctata type 3 DOID:0110853 Rhizomelic chondrodysplasia punctata, type 3 600121 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1033 agrn 375790 AGRN congenital myasthenic syndrome 8 DOID:0110657 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 615120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040817-1 agrp 181 AGRP {Leanness, inherited} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040817-1 agrp 181 AGRP obesity DOID:9970 {Obesity, late-onset} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1205 agt 183 AGT {Preeclampsia, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1205 agt 183 AGT Renal tubular dysgenesis 267430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1205 agt 183 AGT essential hypertension DOID:10825 {Hypertension, essential, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-267 agtpbp1 23287 AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy 618276 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-546 agtr1a 185 AGTR1 Renal tubular dysgenesis 267430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-546 agtr1a 185 AGTR1 essential hypertension DOID:10825 {Hypertension, essential} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-117 agtr1b 185 AGTR1 Renal tubular dysgenesis 267430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-117 agtr1b 185 AGTR1 essential hypertension DOID:10825 {Hypertension, essential} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-100 agxt2 64902 AGXT2 [Beta-aminoisobutyric acid, urinary excretion of] 210100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-16 agxta 189 AGXT Hyperoxaluria, primary, type 1 259900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010302-3 agxtb 189 AGXT Hyperoxaluria, primary, type 1 259900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-6 ahcy 191 AHCY hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase DOID:0111039 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 613752 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-584 ahdc1 27245 AHDC1 Xia-Gibbs Syndrome DOID:0070055 Xia-Gibbs syndrome 615829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060803-1 ahi1 54806 AHI1 Joubert syndrome 3 DOID:0110998 Joubert syndrome 3 608629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020531-2 ahr1a 196 AHR ?Retinitis pigmentosa 85 618345 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050922-1 ahr1b 196 AHR ?Retinitis pigmentosa 85 618345 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-50 ahsg1 197 AHSG ?Alopecia-mental retardation syndrome 1 203650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041122-2 aicda 57379 AICDA immunodeficiency with hyper-IgM type 2 DOID:0060758 Immunodeficiency with hyper-IgM, type 2 605258 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-11 aifm1 9131 AIFM1 Deafness, X-linked 5 300614 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-11 aifm1 9131 AIFM1 Charcot-Marie-Tooth disease X-linked recessive 4 DOID:0110212 Cowchock syndrome 310490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-11 aifm1 9131 AIFM1 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 6 300816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-144 aimp1a 9255 AIMP1 hypomyelinating leukodystrophy 3 DOID:0060790 Leukodystrophy, hypomyelinating, 3 260600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-13 aimp1b 9255 AIMP1 hypomyelinating leukodystrophy 3 DOID:0060790 Leukodystrophy, hypomyelinating, 3 260600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2652 aimp2 7965 AIMP2 Leukodystrophy, hypomyelinating, 17 618006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6735 aip 9049 AIP growth hormone secreting pituitary adenoma DOID:6255 Pituitary adenoma 1, multiple types 102200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6735 aip 9049 AIP growth hormone secreting pituitary adenoma DOID:6255 Pituitary adenoma predisposition 102200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-577 aipl1 23746 AIPL1 Leber congenital amaurosis 4 DOID:0110332 Cone-rod dystrophy 604393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-577 aipl1 23746 AIPL1 Leber congenital amaurosis 4 DOID:0110332 Leber congenital amaurosis 4 604393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-577 aipl1 23746 AIPL1 Leber congenital amaurosis 4 DOID:0110332 Retinitis pigmentosa, juvenile 604393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071008-4 aire 326 AIRE autoimmune polyendocrine syndrome type 1 DOID:0050167 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-37 ak1 203 AK1 hemolytic anemia DOID:583 Hemolytic anemia due to adenylate kinase deficiency 612631 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-512 ak2 204 AK2 reticular dysgenesis DOID:0060020 Reticular dysgenesis 267500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-122 ak7a 122481 AK7 ?Spermatogenic failure 27 617965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-170 ak7b 122481 AK7 ?Spermatogenic failure 27 617965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2535 akap10 11216 AKAP10 {Cardiac conduction defect, susceptibility to} 115080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7276 akap9 10142 AKAP9 long QT syndrome 11 DOID:0110652 ?Long QT syndrome-11 611820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 Cowden syndrome 6 615109 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 Proteus syndrome DOID:13482 Proteus syndrome, somatic 176920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130730-1 akt1 207 AKT1 schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031007-5 akt2 208 AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy 240900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031007-5 akt2 208 AKT2 type 2 diabetes mellitus DOID:9352 Diabetes mellitus, type II 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-180 akt3a 10000 AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110309-3 akt3b 10000 AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-123 alad 210 ALAD acute porphyria DOID:3133 {Lead poisoning, susceptibility to} 612740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-123 alad 210 ALAD acute porphyria DOID:3133 Porphyria, acute hepatic 612740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001229-1 alas2 212 ALAS2 erythropoietic protoporphyria DOID:13270 Protoporphyria, erythropoietic, X-linked 300752 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001229-1 alas2 212 ALAS2 sideroblastic anemia 1 DOID:0060063 Anemia, sideroblastic, 1 300751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5602 aldh18a1 5832 ALDH18A1 autosomal dominant cutis laxa 3 DOID:0070131 Cutis laxa, autosomal dominant 3 616603 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5602 aldh18a1 5832 ALDH18A1 autosomal recessive cutis laxa type IIIA DOID:0070132 Cutis laxa, autosomal recessive, type IIIA 219150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5602 aldh18a1 5832 ALDH18A1 hereditary spastic paraplegia 9A DOID:0110824 Spastic paraplegia 9A, autosomal dominant 601162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5602 aldh18a1 5832 ALDH18A1 hereditary spastic paraplegia 9B DOID:0110825 Spastic paraplegia 9B, autosomal recessive 616586 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061128-2 aldh1a3 220 ALDH1A3 isolated microphthalmia 8 DOID:0060841 Microphthalmia, isolated 8 615113 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1262 aldh2.1 217 ALDH2 Alcohol sensitivity, acute 610251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1262 aldh2.1 217 ALDH2 {Esophageal cancer, alcohol-related, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1262 aldh2.1 217 ALDH2 {Hangover, susceptibility to} 610251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1262 aldh2.1 217 ALDH2 {Sublingual nitroglycerin, susceptibility to poor response to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-5 aldh2.2 217 ALDH2 Alcohol sensitivity, acute 610251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-5 aldh2.2 217 ALDH2 {Esophageal cancer, alcohol-related, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-5 aldh2.2 217 ALDH2 {Hangover, susceptibility to} 610251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-5 aldh2.2 217 ALDH2 {Sublingual nitroglycerin, susceptibility to poor response to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-74 aldh3a2a 224 ALDH3A2 Sjogren-Larsson syndrome DOID:14501 Sjogren-Larsson syndrome 270200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-103 aldh3a2b 224 ALDH3A2 Sjogren-Larsson syndrome DOID:14501 Sjogren-Larsson syndrome 270200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1179 aldh4a1 8659 ALDH4A1 hyperprolinemia type 2 DOID:0080543 Hyperprolinemia, type II 239510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-2 aldh5a1 7915 ALDH5A1 succinic semialdehyde dehydrogenase deficiency DOID:0060175 Succinic semialdehyde dehydrogenase deficiency 271980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9192 aldh6a1 4329 ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency 614105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6129 aldh7a1 501 ALDH7A1 Epilepsy, pyridoxine-dependent 266100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8369 aldoaa 226 ALDOA Glycogen storage disease XII 611881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2299 aldoab 226 ALDOA Glycogen storage disease XII 611881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-383 aldob 229 ALDOB hereditary fructose intolerance syndrome DOID:9869 Fructose intolerance, hereditary 229600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6093 alg1 56052 ALG1 congenital disorder of glycosylation Ik DOID:0080563 Congenital disorder of glycosylation, type Ik 608540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110310-8 alg10 84920 ALG10 long QT syndrome 2 DOID:0110645 {Long QT syndrome, acquired, reduced susceptibility to} 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110310-8 alg10 144245 ALG10B long QT syndrome 2 DOID:0110645 {Long QT syndrome, acquired, reduced susceptibility to} 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7282 alg11 440138 ALG11 congenital disorder of glycosylation Ip DOID:0080567 Congenital disorder of glycosylation, type Ip 613661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-295 alg12 79087 ALG12 congenital disorder of glycosylation Ig DOID:0080559 Congenital disorder of glycosylation, type Ig 607143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060307-1 alg13 79868 ALG13 early infantile epileptic encephalopathy 36 DOID:0080470 ?Congenital disorder of glycosylation, type Is 300884 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060307-1 alg13 79868 ALG13 early infantile epileptic encephalopathy 36 DOID:0080470 Epileptic encephalopathy, early infantile, 36 300884 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-195 alg14 199857 ALG14 congenital myasthenic syndrome 15 DOID:0110658 ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060502-2 alg2 85365 ALG2 congenital disorder of glycosylation Ii DOID:0080561 ?Congenital disorder of glycosylation, type Ii 607906 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060502-2 alg2 85365 ALG2 congenital myasthenic syndrome 14 DOID:0110669 Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-334 alg3 10195 ALG3 congenital disorder of glycosylation Id DOID:0080556 Congenital disorder of glycosylation, type Id 601110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-45 alg6 29929 ALG6 congenital disorder of glycosylation Ic DOID:0080555 Congenital disorder of glycosylation, type Ic 603147 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5812 alg8 79053 ALG8 Polycystic liver disease 3 with or without kidney cysts 617874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5812 alg8 79053 ALG8 congenital disorder of glycosylation Ih DOID:0080560 Congenital disorder of glycosylation, type Ih 608104 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1270 alg9 79796 ALG9 Gillessen-Kaesbach-Nishimura syndrome 263210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1270 alg9 79796 ALG9 congenital disorder of glycosylation Il DOID:0080564 Congenital disorder of glycosylation, type Il 608776 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031027-1 alk 238 ALK {Neuroblastoma, susceptibility to, 3} 613014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-251 alkbh8 91801 ALKBH8 Intellectual developmental disorder, autosomal recessive 71 618504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4837 alms1 7840 ALMS1 Alstrom syndrome DOID:0050473 Alstrom syndrome 203800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-47 alox5a 240 ALOX5 {Asthma, diminished response to antileukotriene treatment in} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-47 alox5a 240 ALOX5 {Atherosclerosis, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9322 alox5ap 241 ALOX5AP cerebral infarction DOID:3526 {Stroke, susceptibility to} 601367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131219-3 alox5b.1 240 ALOX5 {Asthma, diminished response to antileukotriene treatment in} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131219-3 alox5b.1 240 ALOX5 {Atherosclerosis, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060623-19 alox5b.2 240 ALOX5 {Asthma, diminished response to antileukotriene treatment in} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060623-19 alox5b.2 240 ALOX5 {Atherosclerosis, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-330 alox5b.3 240 ALOX5 {Asthma, diminished response to antileukotriene treatment in} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-330 alox5b.3 240 ALOX5 {Atherosclerosis, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-48 alpk3a 57538 ALPK3 Cardiomyopathy, familial hypertrophic 27 618052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121101-3 alpk3b 57538 ALPK3 Cardiomyopathy, familial hypertrophic 27 618052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040420-1 alpl 249 ALPL adult hypophosphatasia DOID:0110913 Hypophosphatasia, adult 146300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040420-1 alpl 249 ALPL adult hypophosphatasia DOID:0110913 Odontohypophosphatasia 146300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040420-1 alpl 249 ALPL childhood hypophosphatasia DOID:0110915 Hypophosphatasia, childhood 241510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040420-1 alpl 249 ALPL infantile hypophosphatasia DOID:0110914 Hypophosphatasia, infantile 241500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-2 als2a 57679 ALS2 Primary lateral sclerosis, juvenile 606353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-2 als2a 57679 ALS2 Spastic paralysis, infantile onset ascending 607225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-2 als2a 57679 ALS2 amyotrophic lateral sclerosis type 2 DOID:0060194 Amyotrophic lateral sclerosis 2, juvenile 205100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080929-1 als2b 57679 ALS2 Primary lateral sclerosis, juvenile 606353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080929-1 als2b 57679 ALS2 Spastic paralysis, infantile onset ascending 607225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080929-1 als2b 57679 ALS2 amyotrophic lateral sclerosis type 2 DOID:0060194 Amyotrophic lateral sclerosis 2, juvenile 205100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-191 alx1 8092 ALX1 ?Frontonasal dysplasia 3 613456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120221-3 alx3 257 ALX3 Frontonasal dysplasia 1 136760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070712-3 alx4a 60529 ALX4 {Craniosynostosis 5, susceptibility to} 615529 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070712-3 alx4a 60529 ALX4 Frontonasal dysplasia 2 613451 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070712-3 alx4a 60529 ALX4 parietal foramina DOID:0060285 Parietal foramina 2 609597 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-140 alx4b 60529 ALX4 {Craniosynostosis 5, susceptibility to} 615529 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-140 alx4b 60529 ALX4 Frontonasal dysplasia 2 613451 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-140 alx4b 60529 ALX4 parietal foramina DOID:0060285 Parietal foramina 2 609597 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-484 amacr 23600 AMACR alpha-methylacyl-CoA racemase deficiency DOID:0060602 Alpha-methylacyl-CoA racemase deficiency 614307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-484 amacr 23600 AMACR congenital bile acid synthesis defect 4 DOID:0111068 Bile acid synthesis defect, congenital, 4 214950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070719-2 amer1 139285 AMER1 osteopathia striata with cranial sclerosis DOID:0060886 Osteopathia striata with cranial sclerosis 300373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-192 amh 268 AMH persistent Mullerian duct syndrome DOID:0050791 Persistent Mullerian duct syndrome, type I 261550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1533 ammecr1 9949 AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 300990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-59 amn 81693 AMN megaloblastic anemia DOID:13382 Megaloblastic anemia-1, Norwegian type 261100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-4 ampd2a 271 AMPD2 hereditary spastic paraplegia 63 DOID:0110814 ?Spastic paraplegia 63 615686 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-4 ampd2a 271 AMPD2 pontocerebellar hypoplasia type 9 DOID:0060278 Pontocerebellar hypoplasia, type 9 615809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-5 ampd2b 271 AMPD2 hereditary spastic paraplegia 63 DOID:0110814 ?Spastic paraplegia 63 615686 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-5 ampd2b 271 AMPD2 pontocerebellar hypoplasia type 9 DOID:0060278 Pontocerebellar hypoplasia, type 9 615809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-2 ampd3a 272 AMPD3 [AMP deaminase deficiency, erythrocytic] 612874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5929 ampd3b 272 AMPD3 [AMP deaminase deficiency, erythrocytic] 612874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-114 amt 275 AMT glycine encephalopathy DOID:9268 Glycine encephalopathy 605899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010817-3 angptl3 27329 ANGPTL3 familial hypobetalipoproteinemia 2 DOID:0111061 Hypobetalipoproteinemia, familial, 2 605019 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-222 angptl4 51129 ANGPTL4 Plasma triglyceride level QTL, low 615881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-44 ank1a 286 ANK1 hereditary spherocytosis type 1 DOID:0110916 Spherocytosis, type 1 182900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-6 ank1b 286 ANK1 hereditary spherocytosis type 1 DOID:0110916 Spherocytosis, type 1 182900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111215-3 ank2a 287 ANK2 Cardiac arrhythmia, ankyrin-B-related 600919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111215-3 ank2a 287 ANK2 Long QT syndrome 4 600919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-165 ank2b 287 ANK2 Cardiac arrhythmia, ankyrin-B-related 600919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-165 ank2b 287 ANK2 Long QT syndrome 4 600919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060621-1 ank3a 288 ANK3 autosomal recessive non-syndromic intellectual disability DOID:0060308 ?Mental retardation, autosomal recessive, 37 615493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060621-2 ank3b 288 ANK3 autosomal recessive non-syndromic intellectual disability DOID:0060308 ?Mental retardation, autosomal recessive, 37 615493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-33 ankha 56172 ANKH chondrocalcinosis DOID:1156 Chondrocalcinosis 2 118600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-33 ankha 56172 ANKH craniometaphyseal dysplasia DOID:0080033 Craniometaphyseal dysplasia 123000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2458 ankhb 56172 ANKH chondrocalcinosis DOID:1156 Chondrocalcinosis 2 118600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2458 ankhb 56172 ANKH craniometaphyseal dysplasia DOID:0080033 Craniometaphyseal dysplasia 123000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6090 ankle2 23141 ANKLE2 primary autosomal recessive microcephaly 16 DOID:0070289 Microcephaly 16, primary, autosomal recessive 616681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3932 ankrd11 29123 ANKRD11 KBG syndrome DOID:14780 KBG syndrome 148050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4486 anln 54443 ANLN focal segmental glomerulosclerosis 8 DOID:0111133 Focal segmental glomerulosclerosis 8 616032 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-43 ano10a 55129 ANO10 autosomal recessive spinocerebellar ataxia 10 DOID:0050999 Spinocerebellar ataxia, autosomal recessive 10 613728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-169 ano10b 55129 ANO10 autosomal recessive spinocerebellar ataxia 10 DOID:0050999 Spinocerebellar ataxia, autosomal recessive 10 613728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111031-3 ano3 63982 ANO3 dystonia 24 DOID:0090052 Dystonia 24 615034 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091013-2 ano5a 203859 ANO5 Gnathodiaphyseal dysplasia 166260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091013-2 ano5a 203859 ANO5 autosomal recessive limb-girdle muscular dystrophy type 2L DOID:0110284 Muscular dystrophy, limb-girdle, autosomal recessive 12 611307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091013-2 ano5a 203859 ANO5 Miyoshi muscular dystrophy 3 DOID:0070201 Miyoshi muscular dystrophy 3 613319 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-108 ano5b 203859 ANO5 Gnathodiaphyseal dysplasia 166260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-108 ano5b 203859 ANO5 autosomal recessive limb-girdle muscular dystrophy type 2L DOID:0110284 Muscular dystrophy, limb-girdle, autosomal recessive 12 611307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-108 ano5b 203859 ANO5 Miyoshi muscular dystrophy 3 DOID:0070201 Miyoshi muscular dystrophy 3 613319 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-64 ano6 196527 ANO6 Scott syndrome DOID:0111052 Scott syndrome 262890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000201-9 anos1a 3730 ANOS1 hypogonadotropic hypogonadism 1 with or without anosmia DOID:0090094 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000201-13 anos1b 3730 ANOS1 hypogonadotropic hypogonadism 1 with or without anosmia DOID:0090094 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-15 antxr1a 84168 ANTXR1 GAPO syndrome 230740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-15 antxr1a 84168 ANTXR1 {?Hemangioma, capillary infantile, susceptibility to} 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-21 antxr1b 84168 ANTXR1 GAPO syndrome 230740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-21 antxr1b 84168 ANTXR1 {?Hemangioma, capillary infantile, susceptibility to} 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-5 antxr1c 84168 ANTXR1 GAPO syndrome 230740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-5 antxr1c 84168 ANTXR1 {?Hemangioma, capillary infantile, susceptibility to} 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-28 antxr1d 84168 ANTXR1 GAPO syndrome 230740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-28 antxr1d 84168 ANTXR1 {?Hemangioma, capillary infantile, susceptibility to} 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-14 antxr2a 118429 ANTXR2 Hyaline fibromatosis syndrome 228600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080213-4 antxr2b 118429 ANTXR2 Hyaline fibromatosis syndrome 228600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030707-4 anxa11a 311 ANXA11 amyotrophic lateral sclerosis type 23 DOID:0080225 Amytrophic lateral sclerosis 23 617839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030707-5 anxa11b 311 ANXA11 amyotrophic lateral sclerosis type 23 DOID:0080225 Amytrophic lateral sclerosis 23 617839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-29 anxa5a 308 ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3} 614391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9076 anxa5b 308 ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3} 614391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1119 ap1s1 1174 AP1S1 MEDNIK syndrome DOID:0060483 MEDNIK syndrome 609313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5448 ap1s2 8905 AP1S2 syndromic X-linked intellectual disability 5 DOID:0060800 Mental retardation, X-linked syndromic 5 304340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-222 ap1s3a 130340 AP1S3 psoriasis 15 DOID:0111281 {Psoriasis 15, pustular, susceptibility to} 616106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-62 ap1s3b 130340 AP1S3 psoriasis 15 DOID:0111281 {Psoriasis 15, pustular, susceptibility to} 616106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2174 ap2s1 1175 AP2S1 familial hypocalciuric hypercalcemia 3 DOID:0060702 Hypocalciuric hypercalcemia, type III 600740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-8 ap3b1a 8546 AP3B1 Hermansky-Pudlak syndrome 2 DOID:0060540 Hermansky-Pudlak syndrome 2 608233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121107-2 ap3b1b 8546 AP3B1 Hermansky-Pudlak syndrome 2 DOID:0060540 Hermansky-Pudlak syndrome 2 608233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130208-1 ap3b2 8120 AP3B2 early infantile epileptic encephalopathy 48 DOID:0080448 Epileptic encephalopathy, early infantile, 48 617276 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-437 ap3d1 8943 AP3D1 ?Hermansky-Pudlak syndrome 10 617050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1284 ap4b1 10717 AP4B1 hereditary spastic paraplegia 47 DOID:0110799 Spastic paraplegia 47, autosomal recessive 614066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061221-3 ap4e1 23431 AP4E1 hereditary spastic paraplegia 51 DOID:0110803 Spastic paraplegia 51, autosomal recessive 613744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061221-3 ap4e1 23431 AP4E1 stuttering DOID:0060243 Stuttering, familial persistent, 1 184450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-421 ap4m1 9179 AP4M1 hereditary spastic paraplegia 50 DOID:0110802 Spastic paraplegia 50, autosomal recessive 612936 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-404 ap4s1 11154 AP4S1 hereditary spastic paraplegia 52 DOID:0110804 Spastic paraplegia 52, autosomal recessive 614067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120508-2 ap5z1 9907 AP5Z1 hereditary spastic paraplegia 48 DOID:0110800 Spastic paraplegia 48, autosomal recessive 613647 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC Adenoma, periampullary, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC Desmoid disease, hereditary 135290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC familial adenomatous polyposis 1 DOID:0080409 Adenomatous polyposis coli 175100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC familial adenomatous polyposis 1 DOID:0080409 Brain tumor-polyposis syndrome 2 175100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC familial adenomatous polyposis 1 DOID:0080409 Gardner syndrome 175100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC hepatocellular carcinoma DOID:684 Hepatoblastoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-7 apc 324 APC stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090422-1 apc2 10297 APC2 ?Sotos syndrome 3 617169 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130806-1 apcdd1 147495 APCDD1 hypotrichosis 1 DOID:0110698 Hypotrichosis 1 605389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-14 apoa1a 335 APOA1 ApoA-I and apoC-III deficiency, combined 618463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-14 apoa1a 335 APOA1 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding 618463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-14 apoa1a 335 APOA1 familial visceral amyloidosis DOID:0050636 Amyloidosis, 3 or more types 105200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-172 apoa1b 335 APOA1 ApoA-I and apoC-III deficiency, combined 618463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-172 apoa1b 335 APOA1 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding 618463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-172 apoa1b 335 APOA1 familial visceral amyloidosis DOID:0050636 Amyloidosis, 3 or more types 105200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070702-4 apoba 338 APOB Hypercholesterolemia, familial, 2 144010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070702-4 apoba 338 APOB familial hypobetalipoproteinemia 1 DOID:0111062 Hypobetalipoproteinemia 615558 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9732 apobb.1 338 APOB Hypercholesterolemia, familial, 2 144010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9732 apobb.1 338 APOB familial hypobetalipoproteinemia 1 DOID:0111062 Hypobetalipoproteinemia 615558 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-554 apobb.2 338 APOB Hypercholesterolemia, familial, 2 144010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-554 apobb.2 338 APOB familial hypobetalipoproteinemia 1 DOID:0111062 Hypobetalipoproteinemia 615558 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2168 apoc2 344 APOC2 Hyperlipoproteinemia, type Ib 207750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE Lipoprotein glomerulopathy 611771 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE age related macular degeneration 1 DOID:0110014 {?Macular degeneration, age-related} 603075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE Alzheimer's disease 2 DOID:0110035 Alzheimer disease-2 104310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE hyperlipoproteinemia type III DOID:3145 {Coronary artery disease, severe, susceptibility to} 617347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE hyperlipoproteinemia type III DOID:3145 Hyperlipoproteinemia, type III 617347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-18 apoea 348 APOE sea-blue histiocytosis DOID:4423 Sea-blue histiocyte disease 269600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE Lipoprotein glomerulopathy 611771 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE age related macular degeneration 1 DOID:0110014 {?Macular degeneration, age-related} 603075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE Alzheimer's disease 2 DOID:0110035 Alzheimer disease-2 104310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE hyperlipoproteinemia type III DOID:3145 {Coronary artery disease, severe, susceptibility to} 617347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE hyperlipoproteinemia type III DOID:3145 Hyperlipoproteinemia, type III 617347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-368 apoeb 348 APOE sea-blue histiocytosis DOID:4423 Sea-blue histiocyte disease 269600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3217 apol1 8542 APOL1 {End-stage renal disease, nondiabetic, susceptibility to} 612551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3217 apol1 8542 APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-13 appa 351 APP Alzheimer's disease 1 DOID:0080348 Alzheimer disease 1, familial 104300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-13 appa 351 APP APP-related cerebral amyloid angiopathy DOID:0070028 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020220-1 appb 351 APP Alzheimer's disease 1 DOID:0080348 Alzheimer disease 1, familial 104300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020220-1 appb 351 APP APP-related cerebral amyloid angiopathy DOID:0070028 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081016-1 appl1 26060 APPL1 maturity-onset diabetes of the young type 14 DOID:0111111 {Maturity-onset diabetes of the young, type 14} 616511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1492 aprt 353 APRT adenine phosphoribosyltransferase deficiency DOID:0060350 Adenine phosphoribosyltransferase deficiency 614723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040628-2 aptx 54840 APTX ataxia with oculomotor apraxia type 1 DOID:0050754 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7764 aqp1a.1 358 AQP1 [Aquaporin-1 deficiency] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7764 aqp1a.1 358 AQP1 [Blood group, Colton] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100409-1 aqp1a.2 358 AQP1 [Aquaporin-1 deficiency] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100409-1 aqp1a.2 358 AQP1 [Blood group, Colton] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100408-2 aqp1l 358 AQP1 [Aquaporin-1 deficiency] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100408-2 aqp1l 358 AQP1 [Blood group, Colton] 110450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2826 aqp3a 360 AQP3 [Blood group GIL] 607457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-66 aqp3b 360 AQP3 [Blood group GIL] 607457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6461 aqp7 364 AQP7 [Glycerol quantitative trait locus] 614411 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060131-1 ar 367 AR androgen insensitivity syndrome DOID:4674 Androgen insensitivity 300068 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060131-1 ar 367 AR hypogonadism DOID:1924 Androgen insensitivity, partial, with or without breast cancer 312300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060131-1 ar 367 AR hypospadias DOID:10892 Hypospadias 1, X-linked 300633 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060131-1 ar 367 AR Kennedy's disease DOID:0060161 Spinal and bulbar muscular atrophy of Kennedy 313200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060131-1 ar 367 AR prostate cancer DOID:10283 {Prostate cancer, susceptibility to} 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021031-2 arcn1a 372 ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040121-7 arcn1b 372 ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-5 arf1 375 ARF1 Periventricular nodular heterotopia 8 618185 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-50 arfgef2 10564 ARFGEF2 periventricular nodular heterotopia DOID:0050454 Periventricular heterotopia with microcephaly 608097 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-181 arg1 383 ARG1 hyperargininemia DOID:9278 Argininemia 207800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-256 arhgap31 57514 ARHGAP31 Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 1 100300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2816 arhgdia 396 ARHGDIA nephrotic syndrome type 8 DOID:0080389 Nephrotic syndrome, type 8 615244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6210 arhgef10 9639 ARHGEF10 ?Slowed nerve conduction velocity, AD 608236 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040516-14 arhgef18a 23370 ARHGEF18 Retinitis pigmentosa 78 617433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-462 arhgef18b 23370 ARHGEF18 Retinitis pigmentosa 78 617433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030722-5 arhgef1a 9138 ARHGEF1 ?Immunodeficiency 62 618459 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-136 arhgef1b 9138 ARHGEF1 ?Immunodeficiency 62 618459 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-1 arhgef2 9181 ARHGEF2 neurodevelopmental disorder with midbrain and hindbrain malformations DOID:0080312 ?Neurodevelopmental disorder with midbrain and hindbrain malformations 617523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-271 arhgef9a 23229 ARHGEF9 early infantile epileptic encephalopathy 8 DOID:0080215 Epileptic encephalopathy, early infantile, 8 300607 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7745 arhgef9b 23229 ARHGEF9 early infantile epileptic encephalopathy 8 DOID:0080215 Epileptic encephalopathy, early infantile, 8 300607 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-35 arid1aa 8289 ARID1A Coffin-Siris syndrome 2 DOID:0070044 Coffin-Siris syndrome 2 614607 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5725 arid1ab 8289 ARID1A Coffin-Siris syndrome 2 DOID:0070044 Coffin-Siris syndrome 2 614607 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4459 arid1b 57492 ARID1B Coffin-Siris syndrome 1 DOID:0070042 Coffin-Siris syndrome 1 135900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6311 arid2 196528 ARID2 Coffin-Siris syndrome 6 DOID:0080297 Coffin-Siris syndrome 6 617808 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021217-3 arl13b 200894 ARL13B Joubert syndrome 8 DOID:0111003 Joubert syndrome 8 612291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1604 arl2bp 23568 ARL2BP retinitis pigmentosa with or without situs inversus DOID:0110419 Retinitis pigmentosa with or without situs inversus 615434 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-368 arl3a 403 ARL3 Joubert syndrome 35 618161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-368 arl3a 403 ARL3 Retinitis pigmentosa 83 618173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7518 arl3b 403 ARL3 Joubert syndrome 35 618161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7518 arl3b 403 ARL3 Retinitis pigmentosa 83 618173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041219-2 arl6 84100 ARL6 Bardet-Biedl syndrome 1 DOID:0110123 {Bardet-Biedl syndrome 1, modifier of} 209900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041219-2 arl6 84100 ARL6 Bardet-Biedl syndrome 3 DOID:0110125 Bardet-Biedl syndrome 3 600151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041219-2 arl6 84100 ARL6 retinitis pigmentosa 55 DOID:0110370 ?Retinitis pigmentosa 55 613575 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1087 arl6ip1 23204 ARL6IP1 hereditary spastic paraplegia 61 DOID:0110812 ?Spastic paraplegia 61, autosomal recessive 615685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-7 armc2 84071 ARMC2 Spermatogenic failure 38 618433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100316-7 armc4 55130 ARMC4 primary ciliary dyskinesia 23 DOID:0110609 Ciliary dyskinesia, primary, 23 615451 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7382 armc5 79798 ARMC5 ACTH-independent macronodular adrenal hyperplasia 2 615954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-67 armc9 80210 ARMC9 Joubert syndrome 30 DOID:0080275 Joubert syndrome 30 617622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001207-3 arnt2 9915 ARNT2 ?Webb-Dattani syndrome 615926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7414 arpc1b 10095 ARPC1B Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-102 arr3a 407 ARR3 Myopia 26, X-linked, female-limited 301010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-74 arr3b 407 ARR3 Myopia 26, X-linked, female-limited 301010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-118 arsa 410 ARSA metachromatic leukodystrophy DOID:10581 Metachromatic leukodystrophy 250100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111123-2 arsb 411 ARSB mucopolysaccharidosis VI DOID:12800 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-154 arsg 22901 ARSG Usher syndrome, type IV 618144 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-120 arsh 414 ARSD X-linked chondrodysplasia punctata 1 DOID:0060292 Chondrodysplasia punctata, X-linked recessive 302950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-120 arsh 416 ARSF X-linked chondrodysplasia punctata 1 DOID:0060292 Chondrodysplasia punctata, X-linked recessive 302950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-120 arsh 347527 ARSH X-linked chondrodysplasia punctata 1 DOID:0060292 Chondrodysplasia punctata, X-linked recessive 302950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-120 arsh 415 ARSL X-linked chondrodysplasia punctata 1 DOID:0060292 Chondrodysplasia punctata, X-linked recessive 302950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070725-5 art4 420 ART4 [Blood group, Dombrock] 616060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-35 arv1 64801 ARV1 early infantile epileptic encephalopathy 38 DOID:0080417 Epileptic encephalopathy, early infantile, 38 617020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX Mental retardation, X-linked 29 and others 300419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX Proud syndrome 300004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX early infantile epileptic encephalopathy 1 DOID:0080468 Epileptic encephalopathy, early infantile, 1 308350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX lissencephaly DOID:0050453 Hydranencephaly with abnormal genitalia 300215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX lissencephaly DOID:0050453 Lissencephaly, X-linked 2 300215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-15 arxa 170302 ARX Partington syndrome DOID:14744 Partington syndrome 309510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX Mental retardation, X-linked 29 and others 300419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX Proud syndrome 300004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX early infantile epileptic encephalopathy 1 DOID:0080468 Epileptic encephalopathy, early infantile, 1 308350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX lissencephaly DOID:0050453 Hydranencephaly with abnormal genitalia 300215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX lissencephaly DOID:0050453 Lissencephaly, X-linked 2 300215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121109-2 arxb 170302 ARX Partington syndrome DOID:14744 Partington syndrome 309510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-191 asah1a 427 ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy 159950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-191 asah1a 427 ASAH1 Farber lipogranulomatosis DOID:0050464 Farber lipogranulomatosis 228000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1512 asah1b 427 ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy 159950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1512 asah1b 427 ASAH1 Farber lipogranulomatosis DOID:0050464 Farber lipogranulomatosis 228000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1106 asb10 136371 ASB10 open-angle glaucoma DOID:1067 Glaucoma 1, open angle, F 603383 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-80 ascc1 51008 ASCC1 ?Spinal muscular atrophy with congenital bone fractures 2 616867 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-80 ascc1 51008 ASCC1 Barrett's esophagus DOID:9206 Barrett esophagus/esophageal adenocarcinoma 614266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-90 ascl1a 429 ASCL1 congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-90 ascl1a 429 ASCL1 congenital central hypoventilation syndrome DOID:0060731 Haddad syndrome 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-174 ascl1b 429 ASCL1 congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-174 ascl1b 429 ASCL1 congenital central hypoventilation syndrome DOID:0060731 Haddad syndrome 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6101 ash1l 55870 ASH1L autosomal dominant mental retardation 52 DOID:0080231 Mental retardation, autosomal dominant 52 617796 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060215-1 asip1 434 ASIP [Skin/hair/eye pigmentation 9, brown/nonbrown eyes] 611742 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060215-1 asip1 434 ASIP [Skin/hair/eye pigmentation 9, dark/light hair] 611742 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150212-1 asip2b 434 ASIP [Skin/hair/eye pigmentation 9, brown/nonbrown eyes] 611742 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150212-1 asip2b 434 ASIP [Skin/hair/eye pigmentation 9, dark/light hair] 611742 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1152 asl 435 ASL argininosuccinic aciduria DOID:14755 Argininosuccinic aciduria 207900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1091 asns 440 ASNS Asparagine synthetase deficiency 615574 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-11 aspa 443 ASPA Canavan disease DOID:3613 Canavan disease 271900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-620 aspm 259266 ASPM primary autosomal recessive microcephaly 5 DOID:0070280 Microcephaly 5, primary, autosomal recessive 608716 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041105-7 aspn 54829 ASPN {Lumbar disc degeneration} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041105-7 aspn 54829 ASPN {Osteoarthritis susceptibility 3} 607850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-31 aspscr1 79058 ASPSCR1 alveolar soft part sarcoma DOID:4239 Alveolar soft-part sarcoma 606243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-178 ass1 445 ASS1 citrullinemia DOID:9273 Citrullinemia 215700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-9 asxl1 171023 ASXL1 Bohring-Opitz syndrome 605039 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-9 asxl1 171023 ASXL1 myelodysplastic syndrome DOID:0050908 Myelodysplastic syndrome, somatic 614286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100412-1 asxl2 55252 ASXL2 Shashi-Pena syndrome 617190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-593 atad1a 84896 ATAD1 Hyperekplexia 4 618011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-44 atad1b 84896 ATAD1 Hyperekplexia 4 618011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1826 atad3 55210 ATAD3A Harel-Yoon syndrome 617183 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1826 atad3 83858 ATAD3B Harel-Yoon syndrome 617183 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1826 atad3 219293 ATAD3C Harel-Yoon syndrome 617183 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-185 atcaya 85300 ATCAY Cayman type cerebellar ataxia DOID:0060694 Ataxia, cerebellar, Cayman type 601238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-220 atcayb 85300 ATCAY Cayman type cerebellar ataxia DOID:0060694 Ataxia, cerebellar, Cayman type 601238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-328 atf6 22926 ATF6 achromatopsia 7 DOID:0110009 Achromatopsia 7 616517 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-401 atg16l1 55054 ATG16L1 inflammatory bowel disease 10 DOID:0110885 {Inflammatory bowel disease (Crohn disease) 10} 611081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-149 atg5 9474 ATG5 autosomal recessive spinocerebellar ataxia 25 DOID:0080259 ?Spinocerebellar ataxia, autosomal recessive 25 617584 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-4 atic 471 ATIC AICA-ribosiduria due to ATIC deficiency 608688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8003 atl1 51062 ATL1 hereditary sensory neuropathy type 1D DOID:0070156 Neuropathy, hereditary sensory, type ID 613708 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8003 atl1 51062 ATL1 hereditary spastic paraplegia 3A DOID:0110791 Spastic paraplegia 3A, autosomal dominant 182600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-109 atl3 25923 ATL3 hereditary sensory neuropathy type 1F DOID:0070154 Neuropathy, hereditary sensory, type IF 615632 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040809-1 atm 472 ATM Lymphoma, B-cell non-Hodgkin, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040809-1 atm 472 ATM Lymphoma, mantle cell, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040809-1 atm 472 ATM T-cell prolymphocytic leukemia, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040809-1 atm 472 ATM ataxia telangiectasia DOID:12704 Ataxia-telangiectasia 208900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040809-1 atm 472 ATM breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-426 atn1 1822 ATN1 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 618494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-426 atn1 1822 ATN1 dentatorubral-pallidoluysian atrophy DOID:0060162 Dentatorubral-pallidoluysian atrophy 125370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000926-1 atoh7 220202 ATOH7 persistent hyperplastic primary vitreous DOID:0060282 Persistent hyperplastic primary vitreous, autosomal recessive 221900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-51 atp11c 286410 ATP11C ?Hemolytic anemia, congenital, X-linked 301015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-126 atp13a2 23400 ATP13A2 Spastic paraplegia 78, autosomal recessive 617225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-126 atp13a2 23400 ATP13A2 Kufor-Rakeb syndrome DOID:0060556 Kufor-Rakeb syndrome 606693 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-1 atp1a1a.1 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-1 atp1a1a.1 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-2 atp1a1a.2 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-2 atp1a1a.2 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-3 atp1a1a.3 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-3 atp1a1a.3 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-4 atp1a1a.4 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-4 atp1a1a.4 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020501-1 atp1a1a.5 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020501-1 atp1a1a.5 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-5 atp1a1b 476 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-5 atp1a1b 476 ATP1A1 Hypomagnesemia, seizures, and mental retardation 2 618314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-6 atp1a2a 477 ATP1A2 alternating hemiplegia of childhood DOID:0050635 Alternating hemiplegia of childhood 1 104290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-6 atp1a2a 477 ATP1A2 familial hemiplegic migraine 2 DOID:0111182 Migraine, familial basilar 602481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-6 atp1a2a 477 ATP1A2 familial hemiplegic migraine 2 DOID:0111182 Migraine, familial hemiplegic, 2 602481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-7 atp1a3a 478 ATP1A3 CAPOS syndrome 601338 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-7 atp1a3a 478 ATP1A3 alternating hemiplegia of childhood DOID:0050635 Alternating hemiplegia of childhood 2 614820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-7 atp1a3a 478 ATP1A3 dystonia 12 DOID:0090056 Dystonia-12 128235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-8 atp1a3b 478 ATP1A3 CAPOS syndrome 601338 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-8 atp1a3b 478 ATP1A3 alternating hemiplegia of childhood DOID:0050635 Alternating hemiplegia of childhood 2 614820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001212-8 atp1a3b 478 ATP1A3 dystonia 12 DOID:0090056 Dystonia-12 128235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001127-3 atp1b1a 481 ATP1B1 essential hypertension DOID:10825 [Blood pressure regulation QTL] 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001127-4 atp1b1b 481 ATP1B1 essential hypertension DOID:10825 [Blood pressure regulation QTL] 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-1 atp2a1 487 ATP2A1 Brody myopathy DOID:0050692 Brody myopathy 601003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-702 atp2a2a 488 ATP2A2 acrokeratosis verruciformis DOID:0050606 Acrokeratosis verruciformis 101900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-702 atp2a2a 488 ATP2A2 keratosis follicularis DOID:2734 Darier disease 124200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-867 atp2a2b 488 ATP2A2 acrokeratosis verruciformis DOID:0050606 Acrokeratosis verruciformis 101900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-867 atp2a2b 488 ATP2A2 keratosis follicularis DOID:2734 Darier disease 124200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061016-1 atp2b2 491 ATP2B2 autosomal recessive nonsyndromic deafness 12 DOID:0110467 {Deafness, autosomal recessive 12, modifier of} 601386 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-174 atp2b3a 492 ATP2B3 ?Spinocerebellar ataxia, X-linked 1 302500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080409-2 atp2b3b 492 ATP2B3 ?Spinocerebellar ataxia, X-linked 1 302500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-615 atp2c1 27032 ATP2C1 Hailey-Hailey disease DOID:0050429 Hailey-Hailey disease 169600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7649 atp5f1d 513 ATP5F1D Mitochondrial complex V (ATP synthase) deficiency 618120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-22 atp5f1e 514 ATP5F1E mitochondrial complex V (ATP synthase) deficiency nuclear type 3 DOID:0060332 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060201-1 atp5fa1 498 ATP5F1A combined oxidative phosphorylation deficiency DOID:0060286 ?Combined oxidative phosphorylation deficiency 22 616045 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060201-1 atp5fa1 498 ATP5F1A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID:0060333 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 615228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-136 atp6ap1a 537 ATP6AP1 Immunodeficiency 47 300972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020423-2 atp6ap1b 537 ATP6AP1 Immunodeficiency 47 300972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1960 atp6ap2 10159 ATP6AP2 ?Parkinsonism with spasticity, X-linked 300911 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1960 atp6ap2 10159 ATP6AP2 syndromic X-linked intellectual disability Hedera type DOID:0060806 Mental retardation, X-linked, syndromic, Hedera type 300423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-4 atp6v0a2a 23545 ATP6V0A2 Wrinkly skin syndrome 278250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-4 atp6v0a2a 23545 ATP6V0A2 autosomal recessive cutis laxa type IIA DOID:0070134 Cutis laxa, autosomal recessive, type IIA 219200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-4 atp6v0a2b 23545 ATP6V0A2 Wrinkly skin syndrome 278250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-4 atp6v0a2b 23545 ATP6V0A2 autosomal recessive cutis laxa type IIA DOID:0070134 Cutis laxa, autosomal recessive, type IIA 219200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1143 atp6v1aa 523 ATP6V1A Epileptic encephalopathy, infantile or early childhood, 3 618012 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1143 atp6v1aa 523 ATP6V1A autosomal recessive cutis laxa type IID DOID:0070129 Cutis laxa, autosomal recessive, type IID 617403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9529 atp6v1ab 523 ATP6V1A Epileptic encephalopathy, infantile or early childhood, 3 618012 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9529 atp6v1ab 523 ATP6V1A autosomal recessive cutis laxa type IID DOID:0070129 Cutis laxa, autosomal recessive, type IID 617403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030711-4 atp6v1b2 526 ATP6V1B2 Deafness, congenital, with onychodystrophy, autosomal dominant 124480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030711-4 atp6v1b2 526 ATP6V1B2 Zimmermann-Laband syndrome 2 616455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030711-3 atp6v1ba 526 ATP6V1B2 Deafness, congenital, with onychodystrophy, autosomal dominant 124480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030711-3 atp6v1ba 526 ATP6V1B2 Zimmermann-Laband syndrome 2 616455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-51 atp6v1e1a 529 ATP6V1E1 autosomal recessive cutis laxa type IIC DOID:0070140 Cutis laxa, autosomal recessive, type IIC 617402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-11 atp6v1e1b 529 ATP6V1E1 autosomal recessive cutis laxa type IIC DOID:0070140 Cutis laxa, autosomal recessive, type IIC 617402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-45 atp7a 538 ATP7A Menkes disease DOID:1838 Menkes disease 309400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-45 atp7a 538 ATP7A occipital horn syndrome DOID:0111272 Occipital horn syndrome 304150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-45 atp7a 538 ATP7A X-linked distal spinal muscular atrophy 3 DOID:0111196 Spinal muscular atrophy, distal, X-linked 3 300489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-5 atp7b 540 ATP7B Wilson disease DOID:893 Wilson disease 277900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100209-2 atp8a2 51761 ATP8A2 cerebellar ataxia, mental retardation and dysequlibrium syndrome DOID:0050997 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-14 atp8b1 5205 ATP8B1 benign recurrent intrahepatic cholestasis 1 DOID:0070231 Cholestasis, benign recurrent intrahepatic 243300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-14 atp8b1 5205 ATP8B1 intrahepatic cholestasis of pregnancy 1 DOID:0070228 Cholestasis, intrahepatic, of pregnancy, 1 147480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-14 atp8b1 5205 ATP8B1 progressive familial intrahepatic cholestasis 1 DOID:0070226 Cholestasis, progressive familial intrahepatic 1 211600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-18 atpaf2 91647 ATPAF2 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 DOID:0050768 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-458 atr 545 ATR ?Cutaneous telangiectasia and cancer syndrome, familial 614564 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-458 atr 545 ATR Seckel syndrome 1 DOID:0070007 Seckel syndrome 1 210600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-11 atrx 546 ATRX Alpha-thalassemia myelodysplasia syndrome, somatic 300448 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-11 atrx 546 ATRX Mental retardation-hypotonic facies syndrome, X-linked 309580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-11 atrx 546 ATRX alpha thalassemia-X-linked intellectual disability syndrome DOID:0110030 Alpha-thalassemia/mental retardation syndrome 301040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-180 atxn10 25814 ATXN10 spinocerebellar ataxia type 10 DOID:0050960 Spinocerebellar ataxia 10 603516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-759 atxn1a 6310 ATXN1 spinocerebellar ataxia type 1 DOID:0050954 Spinocerebellar ataxia 1 164400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061218-2 atxn1b 6310 ATXN1 spinocerebellar ataxia type 1 DOID:0050954 Spinocerebellar ataxia 1 164400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-217 atxn2 6311 ATXN2 late onset Parkinson's disease DOID:0060892 {Parkinson disease, late-onset, susceptibility to} 168600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-217 atxn2 6311 ATXN2 spinocerebellar ataxia type 2 DOID:0050955 {Amyotrophic lateral sclerosis, susceptibility to, 13} 183090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-217 atxn2 6311 ATXN2 spinocerebellar ataxia type 2 DOID:0050955 Spinocerebellar ataxia 2 183090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-983 atxn3 4287 ATXN3 Machado-Joseph disease DOID:1440 Machado-Joseph disease 109150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110621-1 atxn7 6314 ATXN7 spinocerebellar ataxia type 7 DOID:0050958 Spinocerebellar ataxia 7 164500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-95 auh 549 AUH 3-methylglutaconic aciduria type 1 DOID:0110002 3-methylglutaconic aciduria, type I 250950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-161 aurka 6790 AURKA colorectal cancer DOID:9256 {Colon cancer, susceptibility to} 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-571 auts2a 26053 AUTS2 autosomal dominant non-syndromic intellectual disability 26 DOID:0070056 Mental retardation, autosomal dominant 26 615834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-20 auts2b 26053 AUTS2 autosomal dominant non-syndromic intellectual disability 26 DOID:0070056 Mental retardation, autosomal dominant 26 615834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030407-2 avp 551 AVP neurohypophyseal diabetes insipidus DOID:12388 Diabetes insipidus, neurohypophyseal 125700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-344 avpr2aa 554 AVPR2 Nephrogenic syndrome of inappropriate antidiuresis 300539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-344 avpr2aa 554 AVPR2 nephrogenic diabetes insipidus DOID:12387 Diabetes insipidus, nephrogenic 304800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-48 avpr2ab 554 AVPR2 Nephrogenic syndrome of inappropriate antidiuresis 300539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-48 avpr2ab 554 AVPR2 nephrogenic diabetes insipidus DOID:12387 Diabetes insipidus, nephrogenic 304800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000403-1 axin1 8312 AXIN1 ?Caudal duplication anomaly 607864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000403-1 axin1 8312 AXIN1 hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000403-2 axin2 8313 AXIN2 Oligodontia-colorectal cancer syndrome 608615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000403-2 axin2 8313 AXIN2 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-88 b2m 567 B2M Immunodeficiency 43 241600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-88 b2m 567 B2M familial visceral amyloidosis DOID:0050636 ?Amyloidosis, familial visceral 105200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-358 b3galnt2 148789 B3GALNT2 congenital muscular dystrophy-dystroglycanopathy type A11 DOID:0111230 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101104-13 b3galt6 126792 B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101104-13 b3galt6 126792 B3GALT6 Ehlers-Danlos syndrome progeroid type DOID:0050802 Ehlers-Danlos syndrome, spondylodysplastic type, 2 615349 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-3 b3gat3 26229 B3GAT3 Larsen-like syndrome B3GAT3 type DOID:0080575 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-147 b3glcta 145173 B3GLCT Peters plus syndrome DOID:0080201 Peters-plus syndrome 261540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-128 b3glctb 145173 B3GLCT Peters plus syndrome DOID:0080201 Peters-plus syndrome 261540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1462 b4galnt1a 2583 B4GALNT1 hereditary spastic paraplegia 26 DOID:0110777 Spastic paraplegia 26, autosomal recessive 609195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100728-3 b4galnt1b 2583 B4GALNT1 hereditary spastic paraplegia 26 DOID:0110777 Spastic paraplegia 26, autosomal recessive 609195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-236 b4galt1 2683 B4GALT1 congenital disorder of glycosylation type IId DOID:0070256 Congenital disorder of glycosylation, type IId 607091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040727-3 b4galt7 11285 B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121001-5 b4gat1 11041 B4GAT1 congenital muscular dystrophy-dystroglycanopathy type A13 DOID:0111238 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-467 b9d1 27077 B9D1 ?Meckel syndrome 9 614209 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-467 b9d1 27077 B9D1 Joubert syndrome 27 DOID:0110996 Joubert syndrome 27 617120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-90 b9d2 80776 B9D2 Joubert syndrome 34 614175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-90 b9d2 80776 B9D2 ?Meckel syndrome 10 614175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120525-2 bach2a 60468 BACH2 Immunodeficiency 60 618394 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-139 bach2b 60468 BACH2 Immunodeficiency 60 618394 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-40 bag3 9531 BAG3 dilated cardiomyopathy 1HH DOID:0110448 Cardiomyopathy, dilated, 1HH 613881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-40 bag3 9531 BAG3 myofibrillar myopathy 6 DOID:0080097 Myopathy, myofibrillar, 6 612954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6657 banf1 8815 BANF1 Nestor-Guillermo progeria syndrome 614008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-492 bap1 8314 BAP1 Tumor predisposition syndrome 614327 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5883 bard1 580 BARD1 breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000511-6 baxa 581 BAX acute lymphocytic leukemia DOID:9952 T-cell acute lymphoblastic leukemia, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000511-6 baxa 581 BAX colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-21 baxb 581 BAX acute lymphocytic leukemia DOID:9952 T-cell acute lymphoblastic leukemia, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-21 baxb 581 BAX colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-445 bbip1 92482 BBIP1 Bardet-Biedl syndrome 18 DOID:0110140 ?Bardet-Biedl syndrome 18 615995 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060126-1 bbs1 582 BBS1 Bardet-Biedl syndrome 1 DOID:0110123 Bardet-Biedl syndrome 1 209900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-355 bbs10 79738 BBS10 Bardet-Biedl syndrome 10 DOID:0110132 Bardet-Biedl syndrome 10 615987 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070626-3 bbs12 166379 BBS12 Bardet-Biedl syndrome 12 DOID:0110134 Bardet-Biedl syndrome 12 615989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020801-1 bbs2 583 BBS2 Bardet-Biedl syndrome 2 DOID:0110124 Bardet-Biedl syndrome 2 615981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020801-1 bbs2 583 BBS2 retinitis pigmentosa 74 DOID:0110401 Retinitis pigmentosa 74 616562 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060126-2 bbs4 585 BBS4 Bardet-Biedl syndrome 4 DOID:0110126 Bardet-Biedl syndrome 4 615982 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1083 bbs5 129880 BBS5 Bardet-Biedl syndrome 5 DOID:0110127 Bardet-Biedl syndrome 5 615983 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-90 bbs7 55212 BBS7 Bardet-Biedl syndrome 7 DOID:0110129 Bardet-Biedl syndrome 7 615984 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-4 bbs9 27241 BBS9 Bardet-Biedl syndrome 9 DOID:0110131 Bardet-Biedl syndrome 9 615986 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-620 bcam 4059 BCAM [Blood group, Auberger system] 111200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-620 bcam 4059 BCAM [Blood group, Lutheran null] 247420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-620 bcam 4059 BCAM [Blood group, Lutheran system] 111200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-63 bcap31 10134 BCAP31 Deafness, dystonia, and cerebral hypomyelination 300475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9358 bcat1 586 BCAT1 ?Hyperleucinemia-isoleucinemia or hypervalinemia ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-425 bcat2 587 BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-376 bckdha 593 BCKDHA maple syrup urine disease DOID:9269 Maple syrup urine disease, type Ia 248600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030124-2 bckdhb 594 BCKDHB maple syrup urine disease DOID:9269 Maple syrup urine disease, type Ib 248600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021204-1 bckdk 10295 BCKDK branched-chain keto acid dehydrogenase kinase deficiency DOID:0090126 Branched-chain ketoacid dehydrogenase kinase deficiency 614923 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 ?Immunodeficiency 37 616098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 {Sezary syndrome, somatic} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 malignant mesothelioma DOID:1790 {Mesothelioma, somatic} 156240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 MALT lymphoma DOID:0050909 Lymphoma, MALT, somatic 137245 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 non-Hodgkin lymphoma DOID:0060060 {Lymphoma, follicular, somatic} 605027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-2 bcl10 8915 BCL10 testicular germ cell cancer DOID:5557 {Male germ cell tumor, somatic} 273300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4643 bcl11aa 53335 BCL11A Dias-Logan syndrome 617101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061009-4 bcl11ab 53335 BCL11A Dias-Logan syndrome 617101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-62 bcl11ba 64919 BCL11B Immunodeficiency 49 617237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-62 bcl11ba 64919 BCL11B Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities 618092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110201-2 bcl11bb 64919 BCL11B Immunodeficiency 49 617237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110201-2 bcl11bb 64919 BCL11B Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities 618092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051012-1 bcl2a 596 BCL2 Leukemia/lymphoma, B-cell, 2 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-185 bcl2b 596 BCL2 Leukemia/lymphoma, B-cell, 2 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-1 bcl3 602 BCL3 Leukemia/lymphoma, B-cell, 3 109560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1696 bcl6aa 604 BCL6 Lymphoma, B-cell 109565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7523 bcl6ab 604 BCL6 Lymphoma, B-cell 109565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000607-16 bcl7a 605 BCL7A B-cell non-Hodgkin lymphoma, high-grade ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010508-1 bco1 53630 BCO1 ?Hypercarotenemia and vitamin A deficiency, autosomal dominant 115300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1191 bco1l 53630 BCO1 ?Hypercarotenemia and vitamin A deficiency, autosomal dominant 115300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040408-1 bcor 54880 BCOR microphthalmia DOID:10629 Microphthalmia, syndromic 2 300166 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-838 bcorl1 63035 BCORL1 Shukla-Vernon syndrome 301029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-43 bcr 613 BCR acute lymphocytic leukemia DOID:9952 Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-43 bcr 613 BCR chronic myeloid leukemia DOID:8552 Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-938 bcs1l 617 BCS1L GRACILE syndrome 603358 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-938 bcs1l 617 BCS1L Bjornstad syndrome DOID:0050677 Bjornstad syndrome 262000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-938 bcs1l 617 BCS1L Leigh disease DOID:3652 Leigh syndrome 256000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-938 bcs1l 617 BCS1L mitochondrial complex III deficiency nuclear type 1 DOID:0080111 Mitochondrial complex III deficiency, nuclear type 1 124000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-2 bdp1 55814 BDP1 ?Deafness, autosomal recessive 112 618257 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-52 bean1 146227 BEAN1 spinocerebellar ataxia type 31 DOID:0050980 Spinocerebellar ataxia 31 117210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 193220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 Vitreoretinochoroidopathy 193220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 bestrophinopathy DOID:0050662 Bestrophinopathy, autosomal recessive 611809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 retinitis pigmentosa 50 DOID:0110396 Retinitis pigmentosa-50 613194 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 retinitis pigmentosa 50 DOID:0110396 Retinitis pigmentosa, concentric 613194 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-214 best1 7439 BEST1 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 2 153700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090608-2 bfsp1 631 BFSP1 cataract 33 DOID:0110264 Cataract 33, multiple types 611391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-58 bfsp2 8419 BFSP2 cataract 12 multiple types DOID:0110239 Cataract 12, multiple types 611597 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-74 bgna 633 BGN Meester-Loeys syndrome 300989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-74 bgna 633 BGN Spondyloepimetaphyseal dysplasia, X-linked 300106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-21 bgnb 633 BGN Meester-Loeys syndrome 300989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-21 bgnb 633 BGN Spondyloepimetaphyseal dysplasia, X-linked 300106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2201 bhlha9 727857 BHLHA9 ?Camptosynpolydactyly, complex 607539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2201 bhlha9 727857 BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-146 bhlhe41 79365 BHLHE41 [Short sleeper] 612975 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101223-3 bicc1a 80114 BICC1 {Renal dysplasia, cystic, susceptibility to} 601331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080522-3 bicc1b 80114 BICC1 {Renal dysplasia, cystic, susceptibility to} 601331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120717-1 bicd2 23299 BICD2 Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120717-1 bicd2 23299 BICD2 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-715 bin1a 274 BIN1 centronuclear myopathy 2 DOID:0111220 Centronuclear myopathy 2 255200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030425-1 bin1b 274 BIN1 centronuclear myopathy 2 DOID:0111220 Centronuclear myopathy 2 255200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-106 blk 640 BLK maturity-onset diabetes of the young type 11 DOID:0111109 Maturity-onset diabetes of the young, type 11 613375 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070702-5 blm 641 BLM Bloom syndrome DOID:2717 Bloom syndrome 210900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-4 blnk 29760 BLNK agammaglobulinemia DOID:2583 ?Agammaglobulinemia 4 613502 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-10 bloc1s3 388552 BLOC1S3 Hermansky-Pudlak syndrome 8 DOID:0060546 Hermansky-Pudlak syndrome 8 614077 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1862 bloc1s6 26258 BLOC1S6 Hermansky-Pudlak syndrome 9 DOID:0060547 ?Hermansky-pudlak syndrome 9 614171 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-312 blvra 644 BLVRA Hyperbiliverdinemia 614156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6115 bmp15 9210 BMP15 ovarian dysgenesis 2 DOID:0080494 Ovarian dysgenesis 2 300510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6115 bmp15 9210 BMP15 ovarian dysgenesis 2 DOID:0080494 Premature ovarian failure 4 300510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060818-1 bmp1a 649 BMP1 osteogenesis imperfecta type 13 DOID:0110342 Osteogenesis imperfecta, type XIII 614856 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060818-2 bmp1b 649 BMP1 osteogenesis imperfecta type 13 DOID:0110342 Osteogenesis imperfecta, type XIII 614856 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-388 bmp2a 650 BMP2 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-388 bmp2a 650 BMP2 brachydactyly type A2 DOID:0110965 Brachydactyly, type A2 112600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-388 bmp2a 650 BMP2 hemochromatosis type 1 DOID:0111029 {HFE hemochromatosis, modifier of} 235200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-474 bmp2b 650 BMP2 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-474 bmp2b 650 BMP2 brachydactyly type A2 DOID:0110965 Brachydactyly, type A2 112600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-474 bmp2b 650 BMP2 hemochromatosis type 1 DOID:0111029 {HFE hemochromatosis, modifier of} 235200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980528-2059 bmp4 652 BMP4 microphthalmia DOID:10629 Microphthalmia, syndromic 6 607932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980528-2059 bmp4 652 BMP4 orofacial cleft 11 DOID:0080404 Orofacial cleft 11 600625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-146 bmper 168667 BMPER Diaphanospondylodysostosis 608022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000502-1 bmpr1aa 657 BMPR1A Polyposis syndrome, hereditary mixed, 2 610069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000502-1 bmpr1aa 657 BMPR1A juvenile polyposis syndrome DOID:0050787 Juvenile polyposis syndrome, infantile form 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000502-1 bmpr1aa 657 BMPR1A juvenile polyposis syndrome DOID:0050787 Polyposis, juvenile intestinal 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-150 bmpr1ab 657 BMPR1A Polyposis syndrome, hereditary mixed, 2 610069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-150 bmpr1ab 657 BMPR1A juvenile polyposis syndrome DOID:0050787 Juvenile polyposis syndrome, infantile form 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-150 bmpr1ab 657 BMPR1A juvenile polyposis syndrome DOID:0050787 Polyposis, juvenile intestinal 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991208-8 bmpr1ba 658 BMPR1B Acromesomelic dysplasia, Demirhan type 609441 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991208-8 bmpr1ba 658 BMPR1B brachydactyly type A1D DOID:0110978 Brachydactyly, type A1, D 616849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991208-8 bmpr1ba 658 BMPR1B brachydactyly type A2 DOID:0110965 Brachydactyly, type A2 112600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090610-1 bmpr1bb 658 BMPR1B Acromesomelic dysplasia, Demirhan type 609441 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090610-1 bmpr1bb 658 BMPR1B brachydactyly type A1D DOID:0110978 Brachydactyly, type A1, D 616849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090610-1 bmpr1bb 658 BMPR1B brachydactyly type A2 DOID:0110965 Brachydactyly, type A2 112600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-1 bmpr2a 659 BMPR2 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, familial primary, 1, with or without HHT 178600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-1 bmpr2a 659 BMPR2 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated 178600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-1 bmpr2a 659 BMPR2 pulmonary venoocclusive disease DOID:5453 Pulmonary venoocclusive disease 1 265450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-2 bmpr2b 659 BMPR2 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, familial primary, 1, with or without HHT 178600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-2 bmpr2b 659 BMPR2 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated 178600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070618-2 bmpr2b 659 BMPR2 pulmonary venoocclusive disease DOID:5453 Pulmonary venoocclusive disease 1 265450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060720-2 bms1 9790 BMS1 ?Aplasia cutis congenita, nonsyndromic 107600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-32 bola3 388962 BOLA3 multiple mitochondrial dysfunctions syndrome 2 DOID:0080134 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-375 bpgm 669 BPGM Erythrocytosis, familial, 8 222800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3200 bptf 2186 BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 617755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF Colorectal cancer, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF Melanoma, malignant, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF Nonsmall cell lung cancer, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF cardiofaciocutaneous syndrome DOID:0060233 Cardiofaciocutaneous syndrome 115150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF LEOPARD syndrome 3 DOID:0080550 LEOPARD syndrome 3 613707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF lung cancer DOID:1324 Adenocarcinoma of lung, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040805-1 braf 673 BRAF Noonan syndrome 7 DOID:0060585 Noonan syndrome 7 613706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-6989 brat1 221927 BRAT1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 618056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-6989 brat1 221927 BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal 614498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 {Breast-ovarian cancer, familial, 2} 612555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 {Glioblastoma 3} 613029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 {Pancreatic cancer 2} 613347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 breast cancer DOID:1612 {Breast cancer, male, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 Fanconi anemia complementation group D1 DOID:0111089 Fanconi anemia, complementation group D1 605724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 medulloblastoma DOID:0050902 {Medulloblastoma} 155255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 nephroblastoma DOID:2154 Wilms tumor 194070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-3 brca2 675 BRCA2 prostate cancer DOID:10283 {Prostate cancer} 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5928 brdt 676 BRDT spermatogenic failure 21 DOID:0070163 ?Spermatogenic failure 21 617644 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6334 brf1a 2972 BRF1 Cerebellofaciodental syndrome 616202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6248 brf1b 2972 BRF1 Cerebellofaciodental syndrome 616202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-11 brip1 83990 BRIP1 breast cancer DOID:1612 {Breast cancer, early-onset, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-11 brip1 83990 BRIP1 Fanconi anemia complementation group J DOID:0111097 Fanconi anemia, complementation group J 609054 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-731 brpf1 7862 BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis 617333 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-43 brwd3 254065 BRWD3 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 93 300659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-140 bscl2 26580 BSCL2 Encephalopathy, progressive, with or without lipodystrophy 615924 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-140 bscl2 26580 BSCL2 congenital generalized lipodystrophy type 2 DOID:0111136 Lipodystrophy, congenital generalized, type 2 269700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-140 bscl2 26580 BSCL2 distal hereditary motor neuronopathy type 5A DOID:0111204 Neuropathy, distal hereditary motor, type VA 600794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-140 bscl2 26580 BSCL2 hereditary spastic paraplegia 17 DOID:0110770 Silver spastic paraplegia syndrome 270685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9638 bsg 682 BSG [Blood group, OK] 111380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-548 bsnd 7809 BSND Bartter disease type 4a DOID:0110145 Bartter syndrome, type 4a 602522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-548 bsnd 7809 BSND Bartter disease type 4a DOID:0110145 Sensorineural deafness with mild renal dysfunction 602522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-186 btd 686 BTD biotinidase deficiency DOID:856 Biotinidase deficiency 253260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070531-1 btk 695 BTK isolated growth hormone deficiency type III DOID:0060875 Isolated growth hormone deficiency, type III, with agammaglobulinemia 307200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070531-1 btk 695 BTK X-linked agammaglobulinemia DOID:14179 Agammaglobulinemia, X-linked 1 300755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-75 bub1 699 BUB1 Colorectal cancer with chromosomal instability, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-120 bub1ba 701 BUB1B [Premature chromatid separation trait] 176430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-120 bub1ba 701 BUB1B colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-120 bub1ba 701 BUB1B mosaic variegated aneuploidy syndrome 1 DOID:0080141 Mosaic variegated aneuploidy syndrome 1 257300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-51 bub1bb 701 BUB1B [Premature chromatid separation trait] 176430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-51 bub1bb 701 BUB1B colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-51 bub1bb 701 BUB1B mosaic variegated aneuploidy syndrome 1 DOID:0080141 Mosaic variegated aneuploidy syndrome 1 257300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-11 bves 11149 BVES autosomal recessive limb-girdle muscular dystrophy type 2X DOID:0110290 Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2772 c1galt1c1 29071 C1GALT1C1 Tn polyagglutination syndrome DOID:0080520 Tn polyagglutination syndrome, somatic 300622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-86 c1qa 712 C1QA C1q deficiency 613652 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-223 c1qb 713 C1QB C1q deficiency 613652 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-408 c1qbp 708 C1QBP Combined oxidative phosphorylation deficiency 33 617713 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-51 c1qc 714 C1QC C1q deficiency 613652 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-101 c1qtnf5 114902 C1QTNF5 late-onset retinal degeneration DOID:0060869 Retinal degeneration, late-onset, autosomal dominant 605670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-24 c1r 715 C1R Ehlers-Danlos syndrome, periodontal type, 1 130080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1232 c1s 716 C1S C1s deficiency 613783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1232 c1s 716 C1S Ehlers-Danlos syndrome, periodontal type, 2 617174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-104 c2cd3 26005 C2CD3 Orofaciodigital syndrome XIV 615948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-35 c3a.1 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-35 c3a.1 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-35 c3a.1 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-36 c3a.2 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-36 c3a.2 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-36 c3a.2 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-37 c3a.3 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-37 c3a.3 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-37 c3a.3 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140822-3 c3a.4 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140822-3 c3a.4 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140822-3 c3a.4 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-30 c3a.5 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-30 c3a.5 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-30 c3a.5 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-2 c3a.6 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-2 c3a.6 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-2 c3a.6 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2211 c3b.1 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2211 c3b.1 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2211 c3b.1 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3063 c3b.2 718 C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3063 c3b.2 718 C3 age related macular degeneration 9 DOID:0110021 {Macular degeneration, age-related, 9} 611378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3063 c3b.2 718 C3 complement component 3 deficiency DOID:8354 C3 deficiency 613779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100805-2 c4b 721 C4B complement component 4b deficiency DOID:0060298 C4B deficiency 614379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120510-2 c5 727 C5 [Eculizumab, poor response to] 615749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120510-2 c5 727 C5 complement component 5 deficiency DOID:8158 C5 deficiency 609536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1358 c6 729 C6 Combined C6/C7 deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1358 c6 729 C6 complement component 6 deficiency DOID:0060299 C6 deficiency 612446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-392 c7a 730 C7 complement component 7 deficiency DOID:0060300 C7 deficiency 610102 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021120-1 c7b 730 C7 complement component 7 deficiency DOID:0060300 C7 deficiency 610102 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-239 c8a 731 C8A type I complement component 8 deficiency DOID:0060301 C8 deficiency, type I 613790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-163 c8b 732 C8B type II complement component 8 deficiency DOID:0060302 C8 deficiency, type II 613789 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-442 c9 735 C9 age related macular degeneration 15 DOID:0110027 {Macular degeneration, age-related, 15, susceptibility to} 615591 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-442 c9 735 C9 complement component 9 deficiency DOID:0060303 C9 deficiency 613825 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080815-4 ca12 771 CA12 Hyperchlorhidrosis, isolated 143860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-5 ca2 760 CA2 autosomal recessive osteopetrosis 3 DOID:0110941 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-85 ca4a 762 CA4 retinitis pigmentosa 17 DOID:0110404 Retinitis pigmentosa 17 600852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080815-5 ca4b 762 CA4 retinitis pigmentosa 17 DOID:0110404 Retinitis pigmentosa 17 600852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-57 ca5a 763 CA5A Hyperammonemia due to carbonic anhydrase VA deficiency 615751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-26 ca8 767 CA8 cerebellar ataxia, mental retardation and dysequlibrium syndrome DOID:0050997 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-25 cabp2a 51475 CABP2 autosomal recessive nonsyndromic deafness 93 DOID:0110537 Deafness, autosomal recessive 93 614899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081028-55 cabp2b 51475 CABP2 autosomal recessive nonsyndromic deafness 93 DOID:0110537 Deafness, autosomal recessive 93 614899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-291 cabp4 57010 CABP4 Cone-rod synaptic disorder, congenital nonprogressive 610427 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-26 cacna1aa 773 CACNA1A early infantile epileptic encephalopathy 42 DOID:0080454 Epileptic encephalopathy, early infantile, 42 617106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-26 cacna1aa 773 CACNA1A episodic ataxia type 2 DOID:0050990 Episodic ataxia, type 2 108500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-26 cacna1aa 773 CACNA1A familial hemiplegic migraine 1 DOID:0111181 Migraine, familial hemiplegic, 1 141500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-26 cacna1aa 773 CACNA1A familial hemiplegic migraine 1 DOID:0111181 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-26 cacna1aa 773 CACNA1A spinocerebellar ataxia type 6 DOID:0050956 Spinocerebellar ataxia 6 183086 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-3 cacna1ab 773 CACNA1A early infantile epileptic encephalopathy 42 DOID:0080454 Epileptic encephalopathy, early infantile, 42 617106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-3 cacna1ab 773 CACNA1A episodic ataxia type 2 DOID:0050990 Episodic ataxia, type 2 108500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-3 cacna1ab 773 CACNA1A familial hemiplegic migraine 1 DOID:0111181 Migraine, familial hemiplegic, 1 141500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-3 cacna1ab 773 CACNA1A familial hemiplegic migraine 1 DOID:0111181 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-3 cacna1ab 773 CACNA1A spinocerebellar ataxia type 6 DOID:0050956 Spinocerebellar ataxia 6 183086 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-44 cacna1ba 774 CACNA1B Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 618497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-4 cacna1bb 774 CACNA1B Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 618497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020129-1 cacna1c 775 CACNA1C Long QT syndrome 8 618447 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020129-1 cacna1c 775 CACNA1C Brugada syndrome 3 DOID:0110220 Brugada syndrome 3 611875 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020129-1 cacna1c 775 CACNA1C Timothy syndrome DOID:0060173 Timothy syndrome 601005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-135 cacna1da 776 CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities 615474 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-135 cacna1da 776 CACNA1D Sinoatrial node dysfunction and deafness 614896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040525-3 cacna1db 776 CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities 615474 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040525-3 cacna1db 776 CACNA1D Sinoatrial node dysfunction and deafness 614896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-526 cacna1ea 777 CACNA1E Epileptic encephalopathy, early infantile, 69 618285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-133 cacna1eb 777 CACNA1E Epileptic encephalopathy, early infantile, 69 618285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-7 cacna1fa 778 CACNA1F Aland Island eye disease DOID:0050630 Aland Island eye disease 300600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-7 cacna1fa 778 CACNA1F congenital stationary night blindness 2A DOID:0110871 Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-7 cacna1fa 778 CACNA1F X-linked cone-rod dystrophy 3 DOID:0111007 Cone-rod dystrophy, X-linked, 3 300476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031104-1 cacna1fb 778 CACNA1F Aland Island eye disease DOID:0050630 Aland Island eye disease 300600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031104-1 cacna1fb 778 CACNA1F congenital stationary night blindness 2A DOID:0110871 Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031104-1 cacna1fb 778 CACNA1F X-linked cone-rod dystrophy 3 DOID:0111007 Cone-rod dystrophy, X-linked, 3 300476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-2 cacna1g 8913 CACNA1G Spinocerebellar ataxia 42 616795 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-2 cacna1g 8913 CACNA1G Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130103-1 cacna1ha 8912 CACNA1H {Epilepsy, childhood absence, susceptibility to, 6} 611942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130103-1 cacna1ha 8912 CACNA1H {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130103-1 cacna1ha 8912 CACNA1H Hyperaldosteronism, familial, type IV 617027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-128 cacna1hb 8912 CACNA1H {Epilepsy, childhood absence, susceptibility to, 6} 611942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-128 cacna1hb 8912 CACNA1H {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-128 cacna1hb 8912 CACNA1H Hyperaldosteronism, familial, type IV 617027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-1 cacna1sa 779 CACNA1S {Malignant hyperthermia susceptibility 5} 601887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-1 cacna1sa 779 CACNA1S {Thyrotoxic periodic paralysis, susceptibility to, 1} 188580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090514-1 cacna1sa 779 CACNA1S hypokalemic periodic paralysis DOID:14452 Hypokalemic periodic paralysis, type 1 170400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051227-1 cacna1sb 779 CACNA1S {Malignant hyperthermia susceptibility 5} 601887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051227-1 cacna1sb 779 CACNA1S {Thyrotoxic periodic paralysis, susceptibility to, 1} 188580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051227-1 cacna1sb 779 CACNA1S hypokalemic periodic paralysis DOID:14452 Hypokalemic periodic paralysis, type 1 170400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-71 cacna2d2a 9254 CACNA2D2 Cerebellar atrophy with seizures and variable developmental delay 618501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-99 cacna2d2b 9254 CACNA2D2 Cerebellar atrophy with seizures and variable developmental delay 618501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-213 cacna2d4a 93589 CACNA2D4 cone dystrophy DOID:0050795 Retinal cone dystrophy 4 610478 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100422-18 cacna2d4b 93589 CACNA2D4 cone dystrophy DOID:0050795 Retinal cone dystrophy 4 610478 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080808-7 cacnb2a 783 CACNB2 Brugada syndrome 4 DOID:0110221 Brugada syndrome 4 611876 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-129 cacnb2b 783 CACNB2 Brugada syndrome 4 DOID:0110221 Brugada syndrome 4 611876 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080320-2 cacnb4a 785 CACNB4 episodic ataxia type 5 DOID:0050993 Episodic ataxia, type 5 613855 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080320-2 cacnb4a 785 CACNB4 idiopathic generalized epilepsy 9 DOID:0111323 {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080320-2 cacnb4a 785 CACNB4 idiopathic generalized epilepsy 9 DOID:0111323 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7907 cacnb4b 785 CACNB4 episodic ataxia type 5 DOID:0050993 Episodic ataxia, type 5 613855 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7907 cacnb4b 785 CACNB4 idiopathic generalized epilepsy 9 DOID:0111323 {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7907 cacnb4b 785 CACNB4 idiopathic generalized epilepsy 9 DOID:0111323 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1401 cacng2a 10369 CACNG2 autosomal dominant non-syndromic intellectual disability 10 DOID:0070040 ?Mental retardation, autosomal dominant 10 614256 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090624-3 cacng2b 10369 CACNG2 autosomal dominant non-syndromic intellectual disability 10 DOID:0070040 ?Mental retardation, autosomal dominant 10 614256 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021030-4 cad 790 CAD early infantile epileptic encephalopathy 50 DOID:0080419 Epileptic encephalopathy, early infantile, 50 616457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-39 cahz 760 CA2 autosomal recessive osteopetrosis 3 DOID:0110941 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-420 calcr 799 CALCR osteoporosis DOID:11476 {Osteoporosis, postmenopausal, susceptibility} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8308 calm1a 801 CALM1 catecholaminergic polymorphic ventricular tachycardia 4 DOID:0060678 Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8308 calm1a 801 CALM1 long QT syndrome 14 DOID:0110655 Long QT syndrome 14 616247 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-2 calm1b 801 CALM1 catecholaminergic polymorphic ventricular tachycardia 4 DOID:0060678 Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-2 calm1b 801 CALM1 long QT syndrome 14 DOID:0110655 Long QT syndrome 14 616247 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-3 calm2a 805 CALM2 long QT syndrome 15 DOID:0110656 Long QT syndrome 15 616249 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020415-2 calm2b 805 CALM2 long QT syndrome 15 DOID:0110656 Long QT syndrome 15 616249 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4042 calr 811 CALR essential thrombocythemia DOID:2224 Thrombocythemia, somatic 187950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4042 calr 811 CALR myelofibrosis DOID:4971 Myelofibrosis, somatic 254450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-72 camk2a 815 CAMK2A ?Mental retardation, autosomal recessive 63 618095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-72 camk2a 815 CAMK2A autosomal dominant mental retardation 53 DOID:0080228 Mental retardation, autosomal dominant 53 617798 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9588 camk2b1 816 CAMK2B autosomal dominant mental retardation 54 DOID:0080230 Mental retardation, autosomal dominant 54 617799 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-34 camk2b2 816 CAMK2B autosomal dominant mental retardation 54 DOID:0080230 Mental retardation, autosomal dominant 54 617799 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-146 camk2g1 818 CAMK2G Mental retardation, autosomal dominant 59 618522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070323-2 camk2g2 818 CAMK2G Mental retardation, autosomal dominant 59 618522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160114-49 camta1 23261 CAMTA1 nonprogressive cerebellar ataxia with mental retardation DOID:0050998 Cerebellar ataxia, nonprogressive, with mental retardation 614756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-183 camta1a 23261 CAMTA1 nonprogressive cerebellar ataxia with mental retardation DOID:0050998 Cerebellar ataxia, nonprogressive, with mental retardation 614756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080229-1 camta1b 23261 CAMTA1 nonprogressive cerebellar ataxia with mental retardation DOID:0050998 Cerebellar ataxia, nonprogressive, with mental retardation 614756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2441 cant1a 124583 CANT1 Desbuquois dysplasia DOID:0060462 Desbuquois dysplasia 1 251450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2441 cant1a 124583 CANT1 multiple epiphyseal dysplasia 7 DOID:0070302 Epiphyseal dysplasia, multiple, 7 617719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-114 cant1b 124583 CANT1 Desbuquois dysplasia DOID:0060462 Desbuquois dysplasia 1 251450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-114 cant1b 124583 CANT1 multiple epiphyseal dysplasia 7 DOID:0070302 Epiphyseal dysplasia, multiple, 7 617719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-137 capn10 11132 CAPN10 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent 1} 601283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1263 capn1a 823 CAPN1 hereditary spastic paraplegia 76 DOID:0110821 Spastic paraplegia 76, autosomal recessive 616907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-491 capn1b 823 CAPN1 hereditary spastic paraplegia 76 DOID:0110821 Spastic paraplegia 76, autosomal recessive 616907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-97 capn3a 825 CAPN3 Muscular dystrophy, limb-girdle, autosomal dominant 4 618129 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-97 capn3a 825 CAPN3 autosomal recessive limb-girdle muscular dystrophy type 2A DOID:0110275 Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-149 capn3b 825 CAPN3 Muscular dystrophy, limb-girdle, autosomal dominant 4 618129 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-149 capn3b 825 CAPN3 autosomal recessive limb-girdle muscular dystrophy type 2A DOID:0110275 Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-214 capn5a 726 CAPN5 Vitreoretinopathy, neovascular inflammatory 193235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-29 capn5b 726 CAPN5 Vitreoretinopathy, neovascular inflammatory 193235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-1 card11 84433 CARD11 B-cell expansion with NFKB and T-cell anergy 616452 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-1 card11 84433 CARD11 Immunodeficiency 11A 615206 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100219-1 card11 84433 CARD11 Immunodeficiency 11B with atopic dermatitis 617638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090310-1 card14 79092 CARD14 pityriasis rubra pilaris DOID:9212 Pityriasis rubra pilaris 173200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090310-1 card14 79092 CARD14 psoriasis 2 DOID:0080475 Psoriasis 2 602723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-94 card9 64170 CARD9 chronic mucocutaneous candidiasis DOID:2058 Candidiasis, familial, 2, autosomal recessive 212050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-197 carmil2 146206 CARMIL2 Immunodeficiency 58 618131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5564 cars2 79587 CARS2 Combined oxidative phosphorylation deficiency 27 616672 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020802-4 caska 8573 CASK FG syndrome DOID:14711 FG syndrome 4 300422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020802-4 caska 8573 CASK FG syndrome DOID:14711 Mental retardation, with or without nystagmus 300422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020802-4 caska 8573 CASK syndromic X-linked intellectual disability Najm type DOID:0060807 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4473 caskb 8573 CASK FG syndrome DOID:14711 FG syndrome 4 300422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4473 caskb 8573 CASK FG syndrome DOID:14711 Mental retardation, with or without nystagmus 300422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4473 caskb 8573 CASK syndromic X-linked intellectual disability Najm type DOID:0060807 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070608-2 casp10 843 CASP10 autoimmune lymphoproliferative syndrome type 2A DOID:0110115 Autoimmune lymphoproliferative syndrome, type II 603909 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070608-2 casp10 843 CASP10 non-Hodgkin lymphoma DOID:0060060 Lymphoma, non-Hodgkin, somatic 605027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070608-2 casp10 843 CASP10 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000713-1 casp8 841 CASP8 autoimmune lymphoproliferative syndrome type 2B DOID:0110116 ?Autoimmune lymphoproliferative syndrome, type IIB 607271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000713-1 casp8 841 CASP8 breast cancer DOID:1612 {Breast cancer, protection against} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000713-1 casp8 841 CASP8 hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000713-1 casp8 841 CASP8 lung cancer DOID:1324 {Lung cancer, protection against} 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-139 casq1a 844 CASQ1 Myopathy, vacuolar, with CASQ1 aggregates 616231 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1070 casq1b 844 CASQ1 Myopathy, vacuolar, with CASQ1 aggregates 616231 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-12 casq2 845 CASQ2 catecholaminergic polymorphic ventricular tachycardia 2 DOID:0060676 Ventricular tachycardia, catecholaminergic polymorphic, 2 611938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-8 casr 846 CASR Hyperparathyroidism, neonatal 239200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-8 casr 846 CASR autosomal dominant hypocalcemia 1 DOID:0090107 Hypocalcemia, autosomal dominant 601198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-8 casr 846 CASR autosomal dominant hypocalcemia 1 DOID:0090107 Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-8 casr 846 CASR familial hypocalciuric hypercalcemia 1 DOID:0060700 Hypocalciuric hypercalcemia, type I 145980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-8 casr 846 CASR idiopathic generalized epilepsy 8 DOID:0111322 {Epilepsy idiopathic generalized, susceptibility to, 8} 612899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050810-2 cast 831 CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-20 cat 847 CAT acatalasia DOID:2582 Acatalasemia 614097 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2415 cav1 857 CAV1 Lipodystrophy, familial partial, type 7 606721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2415 cav1 857 CAV1 congenital generalized lipodystrophy type 3 DOID:0111137 ?Lipodystrophy, congenital generalized, type 3 612526 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2415 cav1 857 CAV1 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, 3 615343 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-426 cav3 859 CAV3 Creatine phosphokinase, elevated serum 123320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-426 cav3 859 CAV3 distal muscular dystrophy Tateyama type DOID:0111191 Myopathy, distal, Tateyama type 614321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-426 cav3 859 CAV3 hypertrophic cardiomyopathy 1 DOID:0110307 Cardiomyopathy, familial hypertrophic 192600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-426 cav3 859 CAV3 long QT syndrome 9 DOID:0110650 Long QT syndrome 9 611818 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-426 cav3 859 CAV3 rippling muscle disease 2 DOID:0060255 Rippling muscle disease 2 606072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-151 cavin1a 284119 CAVIN1 congenital generalized lipodystrophy type 4 DOID:0111138 Lipodystrophy, congenital generalized, type 4 613327 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5509 cavin1b 284119 CAVIN1 congenital generalized lipodystrophy type 4 DOID:0111138 Lipodystrophy, congenital generalized, type 4 613327 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-440 cbfb 865 CBFB acute myeloid leukemia DOID:9119 Myeloid leukemia, acute, M4/M4Eo subtype, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-207 cbl 867 CBL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-207 cbl 867 CBL juvenile myelomonocytic leukemia DOID:0050458 ?Juvenile myelomonocytic leukemia 607785 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-367 cbsa 875 CBS homocystinuria DOID:9263 Homocystinuria, B6-responsive and nonresponsive types 236200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-367 cbsa 875 CBS homocystinuria DOID:9263 Thrombosis, hyperhomocysteinemic 236200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021030-3 cbsb 875 CBS homocystinuria DOID:9263 Homocystinuria, B6-responsive and nonresponsive types 236200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021030-3 cbsb 875 CBS homocystinuria DOID:9263 Thrombosis, hyperhomocysteinemic 236200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5502 cbx2 84733 CBX2 46 XY gonadal dysgenesis DOID:14448 ?46XY sex reversal 5 613080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110908-1 cc2d1a 54862 CC2D1A autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 3 608443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2291 cc2d2a 57545 CC2D2A COACH syndrome 216360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2291 cc2d2a 57545 CC2D2A Joubert syndrome 9 DOID:0111004 Joubert syndrome 9 612285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2291 cc2d2a 57545 CC2D2A Meckel syndrome 6 DOID:0070120 Meckel syndrome 6 612284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090506-7 ccbe1 147372 CCBE1 Hennekam syndrome DOID:0060366 Hennekam lymphangiectasia-lymphedema syndrome 1 235510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-253 ccdc103 388389 CCDC103 primary ciliary dyskinesia 17 DOID:0110621 Ciliary dyskinesia, primary, 17 614679 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-110 ccdc114 93233 CCDC114 primary ciliary dyskinesia 20 DOID:0110625 Ciliary dyskinesia, primary, 20 615067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-20 ccdc115 84317 CCDC115 congenital disorder of glycosylation type IIo DOID:0070267 Congenital disorder of glycosylation, type IIo 616828 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-787 ccdc151 115948 CCDC151 primary ciliary dyskinesia 30 DOID:0110624 Ciliary dyskinesia, primary, 30 616037 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-54 ccdc174 51244 CCDC174 Hypotonia, infantile, with psychomotor retardation 616816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-93 ccdc22 28952 CCDC22 Ritscher-Schinzel syndrome 2 DOID:0060572 Ritscher-Schinzel syndrome 2 300963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060208-3 ccdc28b 79140 CCDC28B Bardet-Biedl syndrome 1 DOID:0110123 {Bardet-Biedl syndrome 1, modifier of} 209900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110603-1 ccdc39 339829 CCDC39 primary ciliary dyskinesia 14 DOID:0110598 Ciliary dyskinesia, primary, 14 613807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-723 ccdc40 55036 CCDC40 primary ciliary dyskinesia 15 DOID:0110623 Ciliary dyskinesia, primary, 15 613808 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-15 ccdc47 57003 CCDC47 Trichohepatoneurodevelopmental syndrome 618268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150115-1 ccdc50 152137 CCDC50 autosomal dominant nonsyndromic deafness 44 DOID:0110569 ?Deafness, autosomal dominant 44 607453 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-358 ccdc65 85478 CCDC65 primary ciliary dyskinesia 27 DOID:0110611 Ciliary dyskinesia, primary, 27 615504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060301-1 ccdc78 124093 CCDC78 centronuclear myopathy 4 DOID:0111224 ?Centronuclear myopathy 4 614807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100701-2 ccdc88aa 55704 CCDC88A ?PEHO syndrome-like 617507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100701-3 ccdc88ab 55704 CCDC88A ?PEHO syndrome-like 617507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100419-3 ccdc88c 440193 CCDC88C hydrocephalus DOID:10908 Hydrocephalus, congenital, 1 236600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100419-3 ccdc88c 440193 CCDC88C spinocerebellar ataxia type 40 DOID:0050986 ?Spinocerebellar ataxia 40 616053 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040712-6 ccm2 83605 CCM2 cerebral cavernous malformation 2 DOID:0060670 Cerebral cavernous malformations-2 603284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-86 ccn6 8838 CCN6 progressive pseudorheumatoid arthropathy of childhood DOID:0090004 Arthropathy, progressive pseudorheumatoid, of childhood 208230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-86 ccn6 8838 CCN6 progressive pseudorheumatoid arthropathy of childhood DOID:0090004 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-176 ccnd1 595 CCND1 colorectal cancer DOID:9256 {Colorectal cancer, susceptibility to} 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-176 ccnd1 595 CCND1 multiple myeloma DOID:9538 {Multiple myeloma, susceptibility to} 254500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-176 ccnd1 595 CCND1 von Hippel-Lindau disease DOID:14175 {von Hippel-Lindau syndrome, modifier of} 193300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-30 ccnd2a 894 CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-354 ccnd2b 894 CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5126 ccnk 8812 CCNK ?Intellectual developmental disorder with hypertelorism and distinctive facies 618147 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-495 ccnq 92002 CCNQ STAR syndrome 300707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 {Hepatitis C virus, resistance to} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 {HIV infection, susceptibility/resistance to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 {Rapid progression to AIDS from HIV1 infection} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 {West nile virus, susceptibility to} 610379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 age related macular degeneration 12 DOID:0110024 {Macular degeneration, age-related, 12} 613784 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 coronary artery disease DOID:3393 {Coronary artery disease, resistance to} 607339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 729230 CCR2 type 1 diabetes mellitus 22 DOID:0110759 {Diabetes mellitus, insulin-dependent, 22} 612522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 {Hepatitis C virus, resistance to} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 {HIV infection, susceptibility/resistance to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 {Rapid progression to AIDS from HIV1 infection} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 {West nile virus, susceptibility to} 610379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 age related macular degeneration 12 DOID:0110024 {Macular degeneration, age-related, 12} 613784 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 coronary artery disease DOID:3393 {Coronary artery disease, resistance to} 607339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1233 CCR4 type 1 diabetes mellitus 22 DOID:0110759 {Diabetes mellitus, insulin-dependent, 22} 612522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 {Hepatitis C virus, resistance to} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 {HIV infection, susceptibility/resistance to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 {Rapid progression to AIDS from HIV1 infection} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 {West nile virus, susceptibility to} 610379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 age related macular degeneration 12 DOID:0110024 {Macular degeneration, age-related, 12} 613784 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 coronary artery disease DOID:3393 {Coronary artery disease, resistance to} 607339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1234 CCR5 type 1 diabetes mellitus 22 DOID:0110759 {Diabetes mellitus, insulin-dependent, 22} 612522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 {Hepatitis C virus, resistance to} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 {HIV infection, susceptibility/resistance to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 {Rapid progression to AIDS from HIV1 infection} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 {West nile virus, susceptibility to} 610379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 age related macular degeneration 12 DOID:0110024 {Macular degeneration, age-related, 12} 613784 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 coronary artery disease DOID:3393 {Coronary artery disease, resistance to} 607339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151216-1 ccr2 1524 CX3CR1 type 1 diabetes mellitus 22 DOID:0110759 {Diabetes mellitus, insulin-dependent, 22} 612522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-977 cct5 22948 CCT5 Neuropathy, hereditary sensory, with spastic paraplegia 256840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-137 cd151 977 CD151 [Blood group, Raph] 179620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-137 cd151 977 CD151 Nephropathy with pretibial epidermolysis bullosa and deafness 609057 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1598 cd164 8763 CD164 autosomal dominant nonsyndromic deafness 66 DOID:0110587 ?Deafness, autosomal dominant 66 616969 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-22 cd209 30835 CD209 {Dengue fever, protection against} 614371 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-22 cd209 30835 CD209 {HIV type 1, susceptibility to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-22 cd209 30835 CD209 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061130-4 cd247 919 CD247 ?Immunodeficiency 25 610163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160113-60 cd27 939 CD27 lymphoproliferative syndrome 2 DOID:0060708 Lymphoproliferative syndrome 2 615122 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8078 cd2ap 23607 CD2AP Glomerulosclerosis, focal segmental, 3 607832 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-55 cd36 948 CD36 {Coronary heart disease, susceptibility to, 7} 610938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-55 cd36 948 CD36 [Macrothrombocytopenia] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-55 cd36 948 CD36 {Malaria, cerebral, reduced risk of} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-55 cd36 948 CD36 {Malaria, cerebral, susceptibility to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-55 cd36 948 CD36 platelet-type bleeding disorder 10 DOID:0111046 Platelet glycoprotein IV deficiency 608404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-95 cd40 958 CD40 immunodeficiency with hyper IgM type 3 DOID:0060023 Immunodeficiency with hyper-IgM, type 3 606843 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100727-1 cd40lg 959 CD40LG CD40 ligand deficiency DOID:0060022 Immunodeficiency, X-linked, with hyper-IgM 308230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-280 cd4-1 920 CD4 OKT4 epitope deficiency 613949 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110429-1 cd44a 960 CD44 [Blood group, Indian system] 609027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110429-2 cd44b 960 CD44 [Blood group, Indian system] 609027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7871 cd59 966 CD59 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-201 cd79a 973 CD79A agammaglobulinemia DOID:2583 Agammaglobulinemia 3 613501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121219-1 cd79b 974 CD79B agammaglobulinemia DOID:2583 Agammaglobulinemia 6 612692 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000831-5 cd81a 975 CD81 common variable immunodeficiency DOID:12177 Immunodeficiency, common variable, 6 613496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-52 cd81b 975 CD81 common variable immunodeficiency DOID:12177 Immunodeficiency, common variable, 6 613496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-2 cd8a 925 CD8A CD8 deficiency, familial 608957 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-280 cdan1 146059 CDAN1 congenital dyserythropoietic anemia DOID:1338 Dyserythropoietic anemia, congenital, type Ia 224120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1214 cdc14aa 8556 CDC14A autosomal recessive nonsyndromic deafness 32 DOID:0110491 Deafness, autosomal recessive 32, with or without immotile sperm 608653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-309 cdc14ab 8556 CDC14A autosomal recessive nonsyndromic deafness 32 DOID:0110491 Deafness, autosomal recessive 32, with or without immotile sperm 608653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8783 cdc42 998 CDC42 Takenouchi-Kosaki syndrome 616737 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2710 cdc45 8318 CDC45 Meier-Gorlin syndrome 7 DOID:0080518 Meier-Gorlin syndrome 7 617063 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-131 cdc6 990 CDC6 Meier-Gorlin syndrome 5 DOID:0080516 ?Meier-Gorlin syndrome 5 613805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1309 cdc73 79577 CDC73 hyperparathyroidism DOID:13543 Hyperparathyroidism, familial primary 145000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1309 cdc73 79577 CDC73 hyperparathyroidism DOID:13543 Hyperparathyroidism-jaw tumor syndrome 145001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1309 cdc73 79577 CDC73 hyperparathyroidism DOID:13543 Parathyroid adenoma with cystic changes 145001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1309 cdc73 79577 CDC73 parathyroid carcinoma DOID:1540 Parathyroid carcinoma 608266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-29 cdca7a 83879 CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome 3 DOID:0090010 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 616910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 blepharocheilodontic syndrome 1 DOID:0080345 Blepharocheilodontic syndrome 1 119580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 breast cancer DOID:1612 {Breast cancer, lobular} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 endometrial cancer DOID:1380 Endometrial carcinoma, somatic 608089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 prostate cancer DOID:10283 {Prostate cancer, susceptibility to} 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010606-1 cdh1 999 CDH1 stomach cancer DOID:10534 Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate 137215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-170 cdh11 1009 CDH11 Elsahy-Waters syndrome 211380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-780 cdh15 1013 CDH15 autosomal dominant non-syndromic intellectual disability 3 DOID:0070033 Mental retardation, autosomal dominant 3 612580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040513-7 cdh23 64072 CDH23 {Pituitary adenoma 5, multiple types} 617540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040513-7 cdh23 64072 CDH23 autosomal recessive nonsyndromic deafness 12 DOID:0110467 Deafness, autosomal recessive 12 601386 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040513-7 cdh23 64072 CDH23 Usher syndrome type 1D DOID:0110831 Usher syndrome, type 1D 601067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040513-7 cdh23 64072 CDH23 Usher syndrome type 1D DOID:0110831 Usher syndrome, type 1D/F digenic 601067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040924-4 cdhr1a 92211 CDHR1 cone-rod dystrophy 15 DOID:0111021 Cone-rod dystrophy 15 613660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040924-4 cdhr1a 92211 CDHR1 cone-rod dystrophy 15 DOID:0111021 Retinitis pigmentosa 65 613660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110210-1 cdhr1b 92211 CDHR1 cone-rod dystrophy 15 DOID:0111021 Cone-rod dystrophy 15 613660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110210-1 cdhr1b 92211 CDHR1 cone-rod dystrophy 15 DOID:0111021 Retinitis pigmentosa 65 613660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-94 cdk10 8558 CDK10 Al Kaissi syndrome 617694 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4975 cdk13 8621 CDK13 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 617360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-974 cdk4 1019 CDK4 {Melanoma, cutaneous malignant, 3} 609048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010131-2 cdk5 1020 CDK5 ?Lissencephaly 7 with cerebellar hypoplasia 616342 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6392 cdk5rap2 55755 CDK5RAP2 primary autosomal recessive microcephaly 3 DOID:0070286 Microcephaly 3, primary, autosomal recessive 604804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-786 cdk6 1021 CDK6 primary autosomal recessive microcephaly 12 DOID:0070284 ?Microcephaly 12, primary, autosomal recessive 616080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-110 cdkl5 6792 CDKL5 early infantile epileptic encephalopathy 2 DOID:0080467 Epileptic encephalopathy, early infantile, 2 300672 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040812-3 cdkn1ba 1027 CDKN1B multiple endocrine neoplasia type 4 DOID:0080137 Multiple endocrine neoplasia, type IV 610755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030521-13 cdkn1bb 1027 CDKN1B multiple endocrine neoplasia type 4 DOID:0080137 Multiple endocrine neoplasia, type IV 610755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040123-1 cdkn1ca 1028 CDKN1C Beckwith-Wiedemann syndrome DOID:5572 Beckwith-Wiedemann syndrome 130650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040123-1 cdkn1ca 1028 CDKN1C IMAGe syndrome DOID:0050885 IMAGE syndrome 614732 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-286 cdkn1cb 1028 CDKN1C Beckwith-Wiedemann syndrome DOID:5572 Beckwith-Wiedemann syndrome 130650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-286 cdkn1cb 1028 CDKN1C IMAGe syndrome DOID:0050885 IMAGE syndrome 614732 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1029 CDKN2A Melanoma and neural system tumor syndrome 155755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1029 CDKN2A {Melanoma, cutaneous malignant, 2} 155601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1029 CDKN2A Orolaryngeal cancer, multiple ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1029 CDKN2A Pancreatic cancer/melanoma syndrome 606719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1030 CDKN2B Melanoma and neural system tumor syndrome 155755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1030 CDKN2B {Melanoma, cutaneous malignant, 2} 155601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1030 CDKN2B Orolaryngeal cancer, multiple ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-306 cdkn2a/b 1030 CDKN2B Pancreatic cancer/melanoma syndrome 606719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-4 cdon 50937 CDON holoprosencephaly 11 DOID:0110877 Holoprosencephaly 11 614226 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070111-1 cdt1 81620 CDT1 Meier-Gorlin syndrome 4 DOID:0080515 Meier-Gorlin syndrome 4 613804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020111-2 cebpa 1050 CEBPA acute myeloid leukemia DOID:9119 ?Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020111-2 cebpa 1050 CEBPA acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1201 cel.1 1056 CEL maturity-onset diabetes of the young type 8 DOID:0111105 Maturity-onset diabetes of the young, type VIII 609812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-10 cel.2 1056 CEL maturity-onset diabetes of the young type 8 DOID:0111105 Maturity-onset diabetes of the young, type VIII 609812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-860 cenpe 1062 CENPE primary autosomal recessive microcephaly 13 DOID:0070283 ?Microcephaly 13, primary, autosomal recessive 616051 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-205 cenpf 1063 CENPF Stromme syndrome DOID:0110595 Stromme syndrome 243605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6323 cenpj 55835 CENPJ primary autosomal recessive microcephaly 6 DOID:0070290 Microcephaly 6, primary, autosomal recessive 608393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6323 cenpj 55835 CENPJ Seckel syndrome 4 DOID:0070010 ?Seckel syndrome 4 613676 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-195 cep104 9731 CEP104 Joubert syndrome 25 DOID:0110994 Joubert syndrome 25 616781 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-268 cep120 153241 CEP120 Joubert syndrome 31 DOID:0080277 Joubert syndrome 31 617761 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-268 cep120 153241 CEP120 short-rib thoracic dysplasia 13 with or without polydactyly DOID:0110093 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-325 cep135 9662 CEP135 primary autosomal recessive microcephaly 8 DOID:0070282 Microcephaly 8, primary, autosomal recessive 614673 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111005-1 cep152 22995 CEP152 primary autosomal recessive microcephaly 9 DOID:0070292 Microcephaly 9, primary, autosomal recessive 614852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111005-1 cep152 22995 CEP152 Seckel syndrome 5 DOID:0070012 Seckel syndrome 5 613823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120821-1 cep164 22897 CEP164 nephronophthisis 15 DOID:0111123 Nephronophthisis 15 614845 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-81 cep19 84984 CEP19 Morbid obesity and spermatogenic failure 615703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-243 cep290 80184 CEP290 Bardet-Biedl syndrome 14 DOID:0110136 ?Bardet-Biedl syndrome 14 615991 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-243 cep290 80184 CEP290 Joubert syndrome 5 DOID:0111000 Joubert syndrome 5 610188 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-243 cep290 80184 CEP290 Leber congenital amaurosis 10 DOID:0110291 Leber congenital amaurosis 10 611755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-243 cep290 80184 CEP290 Meckel syndrome 4 DOID:0070118 Meckel syndrome 4 611134 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-243 cep290 80184 CEP290 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome 6 610189 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-35 cep41 95681 CEP41 Joubert syndrome 15 DOID:0110984 Joubert syndrome 15 614464 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-222 cep55l 55165 CEP55 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly DOID:0080327 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-522 cep57 9702 CEP57 mosaic variegated aneuploidy syndrome 2 DOID:0080142 Mosaic variegated aneuploidy syndrome 2 614114 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1154 cep63 80254 CEP63 Seckel syndrome 6 DOID:0070006 ?Seckel syndrome 6 614728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070905-1 cep78 84131 CEP78 Cone-rod dystrophy and hearing loss 617236 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110321-1 cep83 51134 CEP83 nephronophthisis 18 DOID:0111125 Nephronophthisis 18 615862 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-38 cerkl 375298 CERKL retinitis pigmentosa 26 DOID:0110368 Retinitis pigmentosa 26 608380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130320-1 cers3a 204219 CERS3 autosomal recessive congenital ichthyosis 9 DOID:0060718 Ichthyosis, congenital, autosomal recessive 9 615023 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-32 cers3b 204219 CERS3 autosomal recessive congenital ichthyosis 9 DOID:0060718 Ichthyosis, congenital, autosomal recessive 9 615023 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080724-10 cert1a 10087 CERT1 autosomal dominant non-syndromic intellectual disability 34 DOID:0070064 Mental retardation, autosomal dominant 34 616351 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110125-5 cert1b 10087 CERT1 autosomal dominant non-syndromic intellectual disability 34 DOID:0070064 Mental retardation, autosomal dominant 34 616351 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-54 cetp 1071 CETP [High density lipoprotein cholesterol level QTL 10] 143470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-54 cetp 1071 CETP Hyperalphalipoproteinemia 143470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040930-8 cfap298 56683 CFAP298 primary ciliary dyskinesia 26 DOID:0110627 Ciliary dyskinesia, primary, 26 615500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-203 cfap300 85016 CFAP300 Ciliary dyskinesia, primary, 38 618063 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160114-19 cfap410 755 CFAP410 Retinal dystrophy with macular staphyloma 617547 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160114-19 cfap410 755 CFAP410 Spondylometaphyseal dysplasia, axial 602271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080815-3 cfap43 80217 CFAP43 spermatogenic failure 19 DOID:0070170 Spermatogenic failure 19 617592 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-508 cfap53 220136 CFAP53 visceral heterotaxy DOID:0050545 Heterotaxy, visceral, 6, autosomal recessive 614779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-487 cfb 629 CFB ?Complement factor B deficiency 615561 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-487 cfb 629 CFB {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-487 cfb 629 CFB age related macular degeneration 14 DOID:0110026 {Macular degeneration, age-related, 14, reduced risk of} 615489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-411 cfd 1675 CFD Complement factor D deficiency 613912 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-661 cfh 3075 CFH Complement factor H deficiency 609814 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-661 cfh 3075 CFH {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-661 cfh 3075 CFH age related macular degeneration 4 DOID:0110017 {Macular degeneration, age-related, 4} 610698 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-661 cfh 3075 CFH basal laminar drusen DOID:0060746 Basal laminar drusen 126700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110922-7 cfi 3426 CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110922-7 cfi 3426 CFI age related macular degeneration 13 DOID:0110025 {Macular degeneration, age-related, 13, susceptibility to} 615439 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110922-7 cfi 3426 CFI complement factor I deficiency DOID:0050419 Complement factor I deficiency 610984 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1815 cfl2 1073 CFL2 nemaline myopathy 7 DOID:0110934 Nemaline myopathy 7, autosomal recessive 610687 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9247 cfp 5199 CFP Properdin deficiency, X-linked 312060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR Congenital bilateral absence of vas deferens 277180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR {Hypertrypsinemia, neonatal} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR Sweat chloride elevation without CF ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR bronchiectasis DOID:9563 {Bronchiectasis with or without elevated sweat chloride 1, modifier of} 211400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR bronchiectasis 1 DOID:0080526 {Bronchiectasis with or without elevated sweat chloride 1, modifier of} 211400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR cystic fibrosis DOID:1485 Cystic fibrosis 219700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-20 cftr 1080 CFTR pancreatitis DOID:4989 {Pancreatitis, hereditary} 167800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080102-2 chata 1103 CHAT congenital myasthenic syndrome 6 DOID:0110671 Myasthenic syndrome, congenital, 6, presynaptic 254210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140429-2 chatb 1103 CHAT congenital myasthenic syndrome 6 DOID:0110671 Myasthenic syndrome, congenital, 6, presynaptic 254210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1753 chchd10 400916 CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant 616209 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1753 chchd10 400916 CHCHD10 Spinal muscular atrophy, Jokela type 615048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1753 chchd10 400916 CHCHD10 FTDALS2 DOID:0060214 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1737 chchd2 51142 CHCHD2 Parkinson's disease 22 DOID:0080504 Parkinson disease 22, autosomal dominant 616710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7120 chd1 1105 CHD1 Pilarowski-Bjornsson syndrome 617682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-256 chd2 1106 CHD2 childhood onset epileptic encephalopathy DOID:0060475 Epileptic encephalopathy, childhood-onset 615369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121031-4 chd3 1107 CHD3 Snijders Blok-Campeau syndrome 618205 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-187 chd4a 1108 CHD4 Sifrim-Hitz-Weiss syndrome 617159 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4532 chd4b 1108 CHD4 Sifrim-Hitz-Weiss syndrome 617159 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-179 chd7 55636 CHD7 CHARGE syndrome DOID:0050834 CHARGE syndrome 214800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-179 chd7 55636 CHD7 hypogonadotropic hypogonadism 5 with or without anosmia DOID:0090084 Hypogonadotropic hypogonadism 5 with or without anosmia 612370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6320 chd8 57680 CHD8 {Autism, susceptibility to, 18} 615032 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8942 chek2 11200 CHEK2 {Breast and colorectal cancer, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8942 chek2 11200 CHEK2 breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8942 chek2 11200 CHEK2 Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome 609265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8942 chek2 11200 CHEK2 osteosarcoma DOID:3347 Osteosarcoma, somatic 259500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8942 chek2 11200 CHEK2 prostate cancer DOID:10283 {Prostate cancer, familial, susceptibility to} 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-778 chic2 26511 CHIC2 acute myeloid leukemia DOID:9119 {Leukemia, acute myeloid} 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2928 chkb 1120 CHKB megaconial type congenital muscular dystrophy DOID:0110632 Muscular dystrophy, congenital, megaconial type 602541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030318-2 chm 1121 CHM choroideremia DOID:9821 Choroideremia 303100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1474 chmp1a 5119 CHMP1A pontocerebellar hypoplasia type 8 DOID:0060277 Pontocerebellar hypoplasia, type 8 614961 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070628-3 chmp2ba 25978 CHMP2B amyotrophic lateral sclerosis type 17 DOID:0060208 Amyotrophic lateral sclerosis 17 614696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070628-3 chmp2ba 25978 CHMP2B chromosome 3-linked frontotemporal dementia DOID:0111227 Dementia, familial, nonspecific 600795 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2539 chmp2bb 25978 CHMP2B amyotrophic lateral sclerosis type 17 DOID:0060208 Amyotrophic lateral sclerosis 17 614696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2539 chmp2bb 25978 CHMP2B chromosome 3-linked frontotemporal dementia DOID:0111227 Dementia, familial, nonspecific 600795 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-906 chmp4ba 128866 CHMP4B cataract 31 multiple types DOID:0110265 Cataract 31, multiple types 605387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2812 chmp4bb 128866 CHMP4B cataract 31 multiple types DOID:0110265 Cataract 31, multiple types 605387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1934 chn1 1123 CHN1 Duane retraction syndrome DOID:12557 Duane retraction syndrome 2 604356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4086 chp1 11261 CHP1 ?Spastic ataxia 9, autosomal recessive 618438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090410-4 chrm3a 1131 CHRM3 prune belly syndrome DOID:0060889 ?Prune belly syndrome 100100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090410-5 chrm3b 1131 CHRM3 prune belly syndrome DOID:0060889 ?Prune belly syndrome 100100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-137 chrna1 1134 CHRNA1 congenital myasthenic syndrome 1A DOID:0110663 Myasthenic syndrome, congenital, 1A, slow-channel 601462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-137 chrna1 1134 CHRNA1 congenital myasthenic syndrome 1B DOID:0110662 Myasthenic syndrome, congenital, 1B, fast-channel 608930 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-137 chrna1 1134 CHRNA1 multiple pterygium syndrome DOID:0080110 Multiple pterygium syndrome, lethal type 253290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040108-2 chrna2a 1135 CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy 4 DOID:0060685 Epilepsy, nocturnal frontal lobe, type 4 610353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-99 chrna2b 1135 CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy 4 DOID:0060685 Epilepsy, nocturnal frontal lobe, type 4 610353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070822-1 chrna3 1136 CHRNA3 {Lung cancer susceptibility 2} 612052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-903 chrna4a 1137 CHRNA4 {Nicotine addiction, susceptibility to} 188890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-903 chrna4a 1137 CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy 1 DOID:0060682 Epilepsy, nocturnal frontal lobe, 1 600513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090505-3 chrna4b 1137 CHRNA4 {Nicotine addiction, susceptibility to} 188890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090505-3 chrna4b 1137 CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy 1 DOID:0060682 Epilepsy, nocturnal frontal lobe, 1 600513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-440 chrna5 1138 CHRNA5 {Lung cancer susceptibility 2} 612052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-440 chrna5 1138 CHRNA5 {Nicotine dependence, susceptibility to} 612052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070821-4 chrnb1 1140 CHRNB1 congenital myasthenic syndrome 2A DOID:0110681 Myasthenic syndrome, congenital, 2A, slow-channel 616313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070821-4 chrnb1 1140 CHRNB1 congenital myasthenic syndrome 2C DOID:0110680 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 616314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070821-3 chrnb2 1141 CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy 3 DOID:0060684 Epilepsy, nocturnal frontal lobe, 3 605375 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6665 chrnd 1144 CHRND congenital myasthenic syndrome 3A DOID:0110666 ?Myasthenic syndrome, congenital, 3A, slow-channel 616321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6665 chrnd 1144 CHRND congenital myasthenic syndrome 3B DOID:0110665 Myasthenic syndrome, congenital, 3B, fast-channel 616322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6665 chrnd 1144 CHRND congenital myasthenic syndrome 3C DOID:0110664 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6665 chrnd 1144 CHRND multiple pterygium syndrome DOID:0080110 Multiple pterygium syndrome, lethal type 253290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-32 chrne 1145 CHRNE congenital myasthenic syndrome 4A DOID:0110678 Myasthenic syndrome, congenital, 4A, slow-channel 605809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-32 chrne 1145 CHRNE congenital myasthenic syndrome 4B DOID:0110677 Myasthenic syndrome, congenital, 4B, fast-channel 616324 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-32 chrne 1145 CHRNE congenital myasthenic syndrome 4C DOID:0110679 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3805 chrng 1146 CHRNG multiple pterygium syndrome DOID:0080110 Escobar syndrome 265000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3805 chrng 1146 CHRNG multiple pterygium syndrome DOID:0080110 Multiple pterygium syndrome, lethal type 253290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040315-1 chst11 50515 CHST11 ?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 618167 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040401-3 chst14 113189 CHST14 Ehlers-Danlos syndrome, musculocontractural type 1 601776 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-180 chst3a 9469 CHST3 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-33 chst3b 9469 CHST3 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-74 chst6 23563 CHST5 macular corneal dystrophy DOID:2565 Macular corneal dystrophy 217800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-74 chst6 4166 CHST6 macular corneal dystrophy DOID:2565 Macular corneal dystrophy 217800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090410-1 chst8 64377 CHST8 ?Peeling skin syndrome 3 616265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3127 chsy1 22856 CHSY1 temtamy preaxial brachydactyly syndrome DOID:0050814 Temtamy preaxial brachydactyly syndrome 605282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1069 chuk 1147 CHUK cocoon syndrome DOID:0060647 Cocoon syndrome 613630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-170 cib1 10519 CIB1 Epidermodysplasia verruciformis 3 618267 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1663 cib2 10518 CIB2 autosomal recessive nonsyndromic deafness 48 DOID:0110505 Deafness, autosomal recessive 48 609439 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1663 cib2 10518 CIB2 Usher syndrome type 1J DOID:0110836 Usher syndrome, type IJ 614869 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-700 cica 23152 CIC autosomal dominant mental retardation 45 DOID:0080236 Mental retardation, autosomal dominant 45 617600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1966 cicb 23152 CIC autosomal dominant mental retardation 45 DOID:0080236 Mental retardation, autosomal dominant 45 617600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4591 cidec 63924 CIDEC familial partial lipodystrophy type 5 DOID:0070203 ?Lipodystrophy, familial partial, type 5 615238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071116-6 ciita 4261 CIITA MHC class II deficiency DOID:5812 Bare lymphocyte syndrome, type II, complementation group A 209920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071116-6 ciita 4261 CIITA rheumatoid arthritis DOID:7148 {Rheumatoid arthritis, susceptibility to} 180300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-76 cilp 8483 CILP {Lumbar disc disease, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1381 cisd2 493856 CISD2 Wolfram syndrome 2 DOID:0110630 Wolfram syndrome 2 604928 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050907-1 cish 1154 CISH {Bacteremia, susceptibility to} 614383 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050907-1 cish 1154 CISH {Malaria, susceptibility to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050907-1 cish 1154 CISH {Tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-120 cishb 1154 CISH {Bacteremia, susceptibility to} 614383 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-120 cishb 1154 CISH {Malaria, susceptibility to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-120 cishb 1154 CISH {Tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-981 cita 11113 CIT primary autosomal recessive microcephaly 17 DOID:0070288 Microcephaly 17, primary, autosomal recessive 617090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131030-2 citb 11113 CIT primary autosomal recessive microcephaly 17 DOID:0070288 Microcephaly 17, primary, autosomal recessive 617090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-141 cited2 10370 CITED2 atrial heart septal defect 8 DOID:0110113 Atrial septal defect 8 614433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-141 cited2 10370 CITED2 ventricular septal defect DOID:1657 Ventricular septal defect 2 614431 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6690 ckap2l 150468 CKAP2L Filippi syndrome 272440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-244 clcf1 23529 CLCF1 cold-induced sweating syndrome 2 DOID:0080330 Cold-induced sweating syndrome 2 610313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-333 clcn1a 1180 CLCN1 Myotonia levior, recessive ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-333 clcn1a 1180 CLCN1 myotonia congenita DOID:2106 Myotonia congenita, dominant 160800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-333 clcn1a 1180 CLCN1 myotonia congenita DOID:2106 Myotonia congenita, recessive 255700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-11 clcn1b 1180 CLCN1 Myotonia levior, recessive ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-11 clcn1b 1180 CLCN1 myotonia congenita DOID:2106 Myotonia congenita, dominant 160800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-11 clcn1b 1180 CLCN1 myotonia congenita DOID:2106 Myotonia congenita, recessive 255700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-19 clcn2a 1181 CLCN2 Leukoencephalopathy with ataxia 615651 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-19 clcn2a 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-19 clcn2a 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-19 clcn2a 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile myoclonic, susceptibility to, 8} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-19 clcn2a 1181 CLCN2 primary hyperaldosteronism DOID:446 Hyperaldosteronism, familial, type II 605635 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151006-1 clcn2b 1181 CLCN2 Leukoencephalopathy with ataxia 615651 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151006-1 clcn2b 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151006-1 clcn2b 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151006-1 clcn2b 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile myoclonic, susceptibility to, 8} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-151006-1 clcn2b 1181 CLCN2 primary hyperaldosteronism DOID:446 Hyperaldosteronism, familial, type II 605635 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-73 clcn2c 1181 CLCN2 Leukoencephalopathy with ataxia 615651 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-73 clcn2c 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-73 clcn2c 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-73 clcn2c 1181 CLCN2 idiopathic generalized epilepsy 11 DOID:0111312 {Epilepsy, juvenile myoclonic, susceptibility to, 8} 607628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-73 clcn2c 1181 CLCN2 primary hyperaldosteronism DOID:446 Hyperaldosteronism, familial, type II 605635 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-353 clcn4 1183 CLCN4 non-syndromic X-linked intellectual disability DOID:0050776 Raynaud-Claes syndrome 300114 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-15 clcn5a 1184 CLCN5 Nephrolithiasis, type I 310468 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-15 clcn5a 1184 CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-15 clcn5a 1184 CLCN5 Dent disease DOID:0050699 Dent disease 300009 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-15 clcn5a 1184 CLCN5 X-linked recessive hypophosphatemic rickets DOID:0080353 Hypophosphatemic rickets 300554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-11 clcn5b 1184 CLCN5 Nephrolithiasis, type I 310468 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-11 clcn5b 1184 CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-11 clcn5b 1184 CLCN5 Dent disease DOID:0050699 Dent disease 300009 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-11 clcn5b 1184 CLCN5 X-linked recessive hypophosphatemic rickets DOID:0080353 Hypophosphatemic rickets 300554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-196 clcn7 1186 CLCN7 Hypopigmentation, organomegaly, and delayed myelination and development 618541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-196 clcn7 1186 CLCN7 autosomal dominant osteopetrosis 2 DOID:0110938 Osteopetrosis, autosomal dominant 2 166600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-196 clcn7 1186 CLCN7 autosomal recessive osteopetrosis 4 DOID:0110944 Osteopetrosis, autosomal recessive 4 611490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1379 clcnk 1187 CLCNKA Bartter disease type 3 DOID:0110144 Bartter syndrome, type 3 607364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1379 clcnk 1187 CLCNKA Bartter disease type 4b DOID:0110146 Bartter syndrome, type 4b, digenic 613090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1379 clcnk 1188 CLCNKB Bartter disease type 3 DOID:0110144 Bartter syndrome, type 3 607364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1379 clcnk 1188 CLCNKB Bartter disease type 4b DOID:0110146 Bartter syndrome, type 4b, digenic 613090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010328-11 cldn1 9076 CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 607626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-510 cldn10a 9071 CLDN10 HELIX syndrome 617671 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-42 cldn10b 9071 CLDN10 HELIX syndrome 617671 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-242 cldn19 149461 CLDN19 renal hypomagnesemia 5 with ocular involvement DOID:0060881 Hypomagnesemia 5, renal, with ocular involvement 248190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-299 clic2 1193 CLIC2 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome DOID:0060828 ?Mental retardation, X-linked, syndromic 32 300886 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-84 clic5a 53405 CLIC5 autosomal recessive nonsyndromic deafness 103 DOID:0110464 ?Deafness, autosomal recessive 103 616042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2542 clic5b 53405 CLIC5 autosomal recessive nonsyndromic deafness 103 DOID:0110464 ?Deafness, autosomal recessive 103 616042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120320-1 clmpa 79827 CLMP Congenital short bowel syndrome 615237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120320-2 clmpb 79827 CLMP Congenital short bowel syndrome 615237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-174 cln3 1201 CLN3 neuronal ceroid lipofuscinosis 3 DOID:0110731 Ceroid lipofuscinosis, neuronal, 3 204200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060908-1 cln5 1203 CLN5 neuronal ceroid lipofuscinosis 5 DOID:0110728 Ceroid lipofuscinosis, neuronal, 5 256731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-57 cln6a 54982 CLN6 neuronal ceroid lipofuscinosis 4A DOID:0110730 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-57 cln6a 54982 CLN6 neuronal ceroid lipofuscinosis 6 DOID:0110729 Ceroid lipofuscinosis, neuronal, 6 601780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110623-6 cln6b 54982 CLN6 neuronal ceroid lipofuscinosis 4A DOID:0110730 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110623-6 cln6b 54982 CLN6 neuronal ceroid lipofuscinosis 6 DOID:0110729 Ceroid lipofuscinosis, neuronal, 6 601780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-3 cln8 2055 CLN8 neuronal ceroid lipofuscinosis 8 DOID:0110723 Ceroid lipofuscinosis, neuronal, 8 600143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-3 cln8 2055 CLN8 neuronal ceroid lipofuscinosis 8 northern epilepsy variant DOID:0110724 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5306 clp1 10978 CLP1 pontocerebellar hypoplasia type 10 DOID:0060279 Pontocerebellar hypoplasia, type 10 615803 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150227-1 clpb 81570 CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia DOID:0110003 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 616271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7860 clpp 8192 CLPP Perrault syndrome DOID:0050857 Perrault syndrome 3 614129 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-143 clpxa 10845 CLPX ?Protoporphyria, erythropoietic, 2 618015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130404-1 clpxb 10845 CLPX ?Protoporphyria, erythropoietic, 2 618015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-420 clrn1 7401 CLRN1 retinitis pigmentosa 61 DOID:0110373 Retinitis pigmentosa 61 614180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-420 clrn1 7401 CLRN1 Usher syndrome type 3A DOID:0110841 Usher syndrome, type 3A 276902 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2299 cltca 1213 CLTC autosomal dominant mental retardation 56 DOID:0080226 Mental retardation, autosomal dominant 56 617854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-12 cltcb 1213 CLTC autosomal dominant mental retardation 56 DOID:0080226 Mental retardation, autosomal dominant 56 617854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5045 cnbpa 7555 CNBP myotonic dystrophy type 2 DOID:0050759 Myotonic dystrophy 2 602668 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7782 cnbpb 7555 CNBP myotonic dystrophy type 2 DOID:0050759 Myotonic dystrophy 2 602668 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-66 cnga1a 1259 CNGA1 retinitis pigmentosa 49 DOID:0110377 Retinitis pigmentosa 49 613756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-39 cnga1b 1259 CNGA1 retinitis pigmentosa 49 DOID:0110377 Retinitis pigmentosa 49 613756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090611-2 cnga3a 1261 CNGA3 achromatopsia 2 DOID:0110007 Achromatopsia 2 216900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-121 cnga3b 1261 CNGA3 achromatopsia 2 DOID:0110007 Achromatopsia 2 216900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-164 cngb1a 1258 CNGB1 retinitis pigmentosa 45 DOID:0110402 Retinitis pigmentosa 45 613767 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090831-4 cngb1b 1258 CNGB1 retinitis pigmentosa 45 DOID:0110402 Retinitis pigmentosa 45 613767 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090611-1 cngb3.1 54714 CNGB3 achromatopsia 3 DOID:0110008 Achromatopsia 3 262300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090611-1 cngb3.1 54714 CNGB3 Stargardt disease DOID:0050817 Macular degeneration, juvenile 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-102 cngb3.2 54714 CNGB3 achromatopsia 3 DOID:0110008 Achromatopsia 3 262300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-102 cngb3.2 54714 CNGB3 Stargardt disease DOID:0050817 Macular degeneration, juvenile 248200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060228-5 cnksr2a 22866 CNKSR2 syndromic X-linked mental retardation Hough type DOID:0080242 Mental retardation, X-linked, syndromic, Houge type 301008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8048 cnksr2b 22866 CNKSR2 syndromic X-linked mental retardation Hough type DOID:0080242 Mental retardation, X-linked, syndromic, Houge type 301008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-36 cnnm2a 54805 CNNM2 Hypomagnesemia, seizures, and mental retardation 616418 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-36 cnnm2a 54805 CNNM2 renal hypomagnesemia 6 DOID:0060884 Hypomagnesemia 6, renal 613882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-26 cnnm2b 54805 CNNM2 Hypomagnesemia, seizures, and mental retardation 616418 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-26 cnnm2b 54805 CNNM2 renal hypomagnesemia 6 DOID:0060884 Hypomagnesemia 6, renal 613882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-138 cnnm4a 26504 CNNM4 Jalili syndrome 217080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-181 cnnm4b 26504 CNNM4 Jalili syndrome 217080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040915-1 cnot1 23019 CNOT1 Holoprosencephaly 12, with or without pancreatic agenesis 618500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-12 cnpy3 10695 CNPY3 early infantile epileptic encephalopathy 60 DOID:0080432 Epileptic encephalopathy, early infantile, 60 617929 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030427-1 cntn1a 1272 CNTN1 Compton-North congenital myopathy DOID:0080101 ?Myopathy, congenital, Compton-North 612540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-236 cntn1b 1272 CNTN1 Compton-North congenital myopathy DOID:0080101 ?Myopathy, congenital, Compton-North 612540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990630-12 cntn2 6900 CNTN2 ?Epilepsy, myoclonic, familial adult, 5 615400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030916-2 cntnap1 8506 CNTNAP1 Hypomyelinating neuropathy, congenital, 3 618186 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030916-2 cntnap1 8506 CNTNAP1 Lethal congenital contracture syndrome 7 616286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120328-3 cntnap2a 26047 CNTNAP2 {Autism susceptibility 15} 612100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120328-3 cntnap2a 26047 CNTNAP2 cortical dysplasia-focal epilepsy syndrome DOID:0090130 Cortical dysplasia-focal epilepsy syndrome 610042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120328-3 cntnap2a 26047 CNTNAP2 cortical dysplasia-focal epilepsy syndrome DOID:0090130 Pitt-Hopkins like syndrome 1 610042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-26 cntnap2b 26047 CNTNAP2 {Autism susceptibility 15} 612100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-26 cntnap2b 26047 CNTNAP2 cortical dysplasia-focal epilepsy syndrome DOID:0090130 Cortical dysplasia-focal epilepsy syndrome 610042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-26 cntnap2b 26047 CNTNAP2 cortical dysplasia-focal epilepsy syndrome DOID:0090130 Pitt-Hopkins like syndrome 1 610042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-53 coa5 493753 COA5 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 DOID:0080359 ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-152 coa6 388753 COA6 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 DOID:0080360 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-16 coa7 65260 COA7 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 618387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-66 coa8 84334 COA8 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-137 coasy 80347 COASY Pontocerebellar hypoplasia, type 12 618266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-137 coasy 80347 COASY neurodegeneration with brain iron accumulation 6 DOID:0110740 Neurodegeneration with brain iron accumulation 6 615643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-403 coch 1690 COCH ?Deafness, autosomal recessive 110 618094 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-403 coch 1690 COCH autosomal dominant nonsyndromic deafness 9 DOID:0110593 Deafness, autosomal dominant 9 601369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-128 cog1 9382 COG1 congenital disorder of glycosylation type IIg DOID:0070259 Congenital disorder of glycosylation, type IIg 611209 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2671 cog2 22796 COG2 congenital disorder of glycosylation type IIq DOID:0070269 ?Congenital disorder of glycosylation, type IIq 617395 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-33 cog4 25839 COG4 Saul-Wilson syndrome 618150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-33 cog4 25839 COG4 congenital disorder of glycosylation type IIj DOID:0070262 Congenital disorder of glycosylation, type IIj 613489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-47 cog5 10466 COG5 congenital disorder of glycosylation type IIi DOID:0070261 Congenital disorder of glycosylation, type IIi 613612 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-909 cog6 57511 COG6 Shaheen syndrome 615328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-909 cog6 57511 COG6 congenital disorder of glycosylation type IIl DOID:0070264 Congenital disorder of glycosylation, type IIl 614576 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-463 cog7 91949 COG7 congenital disorder of glycosylation type IIe DOID:0070257 Congenital disorder of glycosylation, type IIe 608779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-74 cog8 84342 COG8 congenital disorder of glycosylation type IIh DOID:0070260 Congenital disorder of glycosylation, type IIh 611182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8373 col10a1a 1300 COL10A1 Schmid metaphyseal chondrodysplasia DOID:0080021 Metaphyseal chondrodysplasia, Schmid type 156500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7079 col10a1b 1300 COL10A1 Schmid metaphyseal chondrodysplasia DOID:0080021 Metaphyseal chondrodysplasia, Schmid type 156500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-167 col11a1a 1301 COL11A1 ?Deafness, autosomal dominant 37 618533 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-167 col11a1a 1301 COL11A1 {Lumbar disc herniation, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-167 col11a1a 1301 COL11A1 Marshall syndrome 154780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-167 col11a1a 1301 COL11A1 fibrochondrogenesis DOID:0060465 Fibrochondrogenesis 1 228520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-167 col11a1a 1301 COL11A1 Stickler syndrome DOID:0080046 Stickler syndrome, type II 604841 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-607 col11a1b 1301 COL11A1 ?Deafness, autosomal dominant 37 618533 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-607 col11a1b 1301 COL11A1 {Lumbar disc herniation, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-607 col11a1b 1301 COL11A1 Marshall syndrome 154780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-607 col11a1b 1301 COL11A1 fibrochondrogenesis DOID:0060465 Fibrochondrogenesis 1 228520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-607 col11a1b 1301 COL11A1 Stickler syndrome DOID:0080046 Stickler syndrome, type II 604841 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-23 col11a2 1302 COL11A2 autosomal dominant nonsyndromic deafness 13 DOID:0110545 Deafness, autosomal dominant 13 601868 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-23 col11a2 1302 COL11A2 autosomal recessive nonsyndromic deafness 53 DOID:0110509 Deafness, autosomal recessive 53 609706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-23 col11a2 1302 COL11A2 fibrochondrogenesis DOID:0060465 Fibrochondrogenesis 2 614524 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-23 col11a2 1302 COL11A2 otospondylomegaepiphyseal dysplasia DOID:0080026 Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-23 col11a2 1302 COL11A2 Stickler syndrome DOID:0080046 Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090728-1 col12a1a 1303 COL12A1 Bethlem myopathy 2 616471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090728-1 col12a1a 1303 COL12A1 ?Ullrich congenital muscular dystrophy 2 616470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-116 col12a1b 1303 COL12A1 Bethlem myopathy 2 616471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-116 col12a1b 1303 COL12A1 ?Ullrich congenital muscular dystrophy 2 616470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1874 col13a1 1305 COL13A1 congenital myasthenic syndrome 19 DOID:0110673 Myasthenic syndrome, congenital, 19 616720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-107 col17a1a 1308 COL17A1 Epithelial recurrent erosion dystrophy 122400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-107 col17a1a 1308 COL17A1 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, localisata variant 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-107 col17a1a 1308 COL17A1 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, non-Herlitz type 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7145 col17a1b 1308 COL17A1 Epithelial recurrent erosion dystrophy 122400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7145 col17a1b 1308 COL17A1 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, localisata variant 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7145 col17a1b 1308 COL17A1 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, non-Herlitz type 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030516-3 col18a1a 80781 COL18A1 Knobloch syndrome, type 1 267750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-288 col18a1b 80781 COL18A1 Knobloch syndrome, type 1 267750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1 130060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 Caffey disease DOID:4257 Caffey disease 114000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 osteogenesis imperfecta type 1 DOID:0110334 Osteogenesis imperfecta, type I 166200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 osteogenesis imperfecta type 2 DOID:0110341 Osteogenesis imperfecta, type II 166210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 osteogenesis imperfecta type 3 DOID:0110339 Osteogenesis imperfecta, type III 259420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 osteogenesis imperfecta type 4 DOID:0110340 Osteogenesis imperfecta, type IV 166220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9102 col1a1a 1277 COL1A1 osteoporosis DOID:11476 {Bone mineral density variation QTL, osteoporosis} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1 130060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 Caffey disease DOID:4257 Caffey disease 114000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 osteogenesis imperfecta type 1 DOID:0110334 Osteogenesis imperfecta, type I 166200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 osteogenesis imperfecta type 2 DOID:0110341 Osteogenesis imperfecta, type II 166210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 osteogenesis imperfecta type 3 DOID:0110339 Osteogenesis imperfecta, type III 259420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 osteogenesis imperfecta type 4 DOID:0110340 Osteogenesis imperfecta, type IV 166220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4400 col1a1b 1277 COL1A1 osteoporosis DOID:11476 {Bone mineral density variation QTL, osteoporosis} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2 617821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 Ehlers-Danlos syndrome, cardiac valvular type 225320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 osteogenesis imperfecta type 2 DOID:0110341 Osteogenesis imperfecta, type II 166210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 osteogenesis imperfecta type 3 DOID:0110339 Osteogenesis imperfecta, type III 259420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 osteogenesis imperfecta type 4 DOID:0110340 Osteogenesis imperfecta, type IV 166220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8415 col1a2 1278 COL1A2 osteoporosis DOID:11476 {Osteoporosis, postmenopausal} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-720 col25a1 84570 COL25A1 congenital fibrosis of the extraocular muscles DOID:0080143 Fibrosis of extraocular muscles, congenital, 5 616219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100119-1 col27a1a 85301 COL27A1 Steel syndrome 615155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100119-2 col27a1b 85301 COL27A1 Steel syndrome 615155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Avascular necrosis of the femoral head 608805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Czech dysplasia 609162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Osteoarthritis with mild chondrodysplasia 604864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Platyspondylic skeletal dysplasia, Torrance type 151210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Spondyloepiphyseal dysplasia, Stanescu type 616583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Spondyloperipheral dysplasia 271700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Stickler sydrome, type I, nonsyndromic ocular 609508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 achondrogenesis type II DOID:0080056 Achondrogenesis, type II or hypochondrogenesis 200610 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Kniest dysplasia DOID:0080045 Kniest dysplasia 156550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Legg-Calve-Perthes disease DOID:14415 Legg-Calve-Perthes disease 150600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 spondyloepimetaphyseal dysplasia, Strudwick type DOID:0080028 SMED Strudwick type 184250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 spondyloepiphyseal dysplasia congenita DOID:14789 SED congenita 183900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-192 col2a1a 1280 COL2A1 Stickler syndrome DOID:0080046 Stickler syndrome, type I 108300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Avascular necrosis of the femoral head 608805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Czech dysplasia 609162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Osteoarthritis with mild chondrodysplasia 604864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Platyspondylic skeletal dysplasia, Torrance type 151210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Spondyloepiphyseal dysplasia, Stanescu type 616583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Spondyloperipheral dysplasia 271700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Stickler sydrome, type I, nonsyndromic ocular 609508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Vitreoretinopathy with phalangeal epiphyseal dysplasia ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 achondrogenesis type II DOID:0080056 Achondrogenesis, type II or hypochondrogenesis 200610 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Kniest dysplasia DOID:0080045 Kniest dysplasia 156550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Legg-Calve-Perthes disease DOID:14415 Legg-Calve-Perthes disease 150600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 spondyloepimetaphyseal dysplasia, Strudwick type DOID:0080028 SMED Strudwick type 184250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 spondyloepiphyseal dysplasia congenita DOID:14789 SED congenita 183900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-9 col2a1b 1280 COL2A1 Stickler syndrome DOID:0080046 Stickler syndrome, type I 108300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-114 col4a1 1282 COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-114 col4a1 1282 COL4A1 {Hemorrhage, intracerebral, susceptibility to} 614519 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-114 col4a1 1282 COL4A1 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-114 col4a1 1282 COL4A1 ?Retinal arteries, tortuosity of 180000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-114 col4a1 1282 COL4A1 COL4A1-related familial vascular leukoencephalopathy DOID:0090125 Brain small vessel disease with or without ocular anomalies 175780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070725-3 col4a2 1284 COL4A2 {Hemorrhage, intracerebral, susceptibility to} 614519 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070725-3 col4a2 1284 COL4A2 porencephaly DOID:0060263 Brain small vessel disease 2 614483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070802-4 col4a3 1285 COL4A3 Hematuria, benign familial 141200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070802-4 col4a3 1285 COL4A3 autosomal dominant Alport syndrome DOID:0110032 Alport syndrome 3, autosomal dominant 104200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070802-4 col4a3 1285 COL4A3 autosomal recessive Alport syndrome DOID:0110033 Alport syndrome 2, autosomal recessive 203780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101001-1 col4a4 1286 COL4A4 Hematuria, familial benign 141200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101001-1 col4a4 1286 COL4A4 autosomal recessive Alport syndrome DOID:0110033 Alport syndrome 2, autosomal recessive 203780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2281 col4a5 1287 COL4A5 X-linked Alport syndrome DOID:0110034 Alport syndrome 1, X-linked 301050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101001-2 col4a6 1288 COL4A6 ?Deafness, X-linked 6 300914 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041105-6 col5a1 1289 COL5A1 type I Ehlers-Danlos syndrome DOID:14720 Ehlers-Danlos syndrome, classic type, 1 130000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-13 col5a2a 1290 COL5A2 Ehlers-Danlos syndrome, classic type, 2 130010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110406-2 col5a2b 1290 COL5A2 Ehlers-Danlos syndrome, classic type, 2 130010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-6 col6a1 1291 COL6A1 Bethlem myopathy DOID:0050663 Bethlem myopathy 1 158810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-6 col6a1 1291 COL6A1 Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy 1 254090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-7 col6a2 1292 COL6A2 ?Myosclerosis, congenital 255600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-7 col6a2 1292 COL6A2 Bethlem myopathy DOID:0050663 Bethlem myopathy 1 158810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-7 col6a2 1292 COL6A2 Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy 1 254090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-8 col6a3 1293 COL6A3 Bethlem myopathy DOID:0050663 Bethlem myopathy 1 158810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-8 col6a3 1293 COL6A3 dystonia 27 DOID:0090050 Dystonia 27 616411 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-8 col6a3 1293 COL6A3 Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy 1 254090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 EBD, Bart type 132000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 EBD, localisata variant ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 Epidermolysis bullosa, pretibial 131850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 Epidermolysis bullosa pruriginosa 604129 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 Transient bullous of the newborn 131705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 Epidermolysis bullosa dystrophica, AD 131750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 nonsyndromic congenital nail disorder 8 DOID:0080086 Toenail dystrophy, isolated 607523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 recessive dystrophic epidermolysis bullosa DOID:0060642 EBD inversa 226600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2427 col7a1 1294 COL7A1 recessive dystrophic epidermolysis bullosa DOID:0060642 Epidermolysis bullosa dystrophica, AR 226600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-488 col8a2 1296 COL8A2 Fuchs' endothelial dystrophy DOID:11555 Corneal dystrophy, Fuchs endothelial, 1 136800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-488 col8a2 1296 COL8A2 posterior polymorphous corneal dystrophy 2 DOID:0110856 Corneal dystrophy, posterior polymorphous 2 609140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080721-25 col9a1a 1297 COL9A1 Stickler syndrome, type IV 614134 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080721-25 col9a1a 1297 COL9A1 multiple epiphyseal dysplasia 6 DOID:0070301 ?Epiphyseal dysplasia, multiple, 6 614135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2410 col9a1b 1297 COL9A1 Stickler syndrome, type IV 614134 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2410 col9a1b 1297 COL9A1 multiple epiphyseal dysplasia 6 DOID:0070301 ?Epiphyseal dysplasia, multiple, 6 614135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9786 col9a2 1298 COL9A2 ?Stickler syndrome, type V 614284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9786 col9a2 1298 COL9A2 multiple epiphyseal dysplasia 2 DOID:0070298 Epiphyseal dysplasia, multiple, 2 600204 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9799 col9a3 1299 COL9A3 {Intervertebral disc disease, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9799 col9a3 1299 COL9A3 multiple epiphyseal dysplasia 3 DOID:0070304 Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-525 colec10 10584 COLEC10 3MC syndrome 3 DOID:0060577 3MC syndrome 3 248340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-11 colec11 78989 COLEC11 3MC syndrome 2 DOID:0060576 3MC syndrome 2 265050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070720-6 colgalt1 79709 COLGALT1 Brain small vessel disease 3 618360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-119 colq 8292 COLQ congenital myasthenic syndrome 5 DOID:0110667 Myasthenic syndrome, congenital, 5 603034 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060606-1 comp 1311 COMP multiple epiphyseal dysplasia 1 DOID:0070303 Epiphyseal dysplasia, multiple, 1 132400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060606-1 comp 1311 COMP pseudoachondroplasia DOID:0080047 Pseudoachondroplasia 177170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-117 comta 1312 COMT panic disorder DOID:594 {Panic disorder, susceptibility to} 167870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-117 comta 1312 COMT schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-164 comtb 1312 COMT panic disorder DOID:594 {Panic disorder, susceptibility to} 167870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-164 comtb 1312 COMT schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-2 copa 1314 COPA {Autoimmune interstitial lung, joint, and kidney disease} 616414 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-7 copb2 9276 COPB2 primary autosomal recessive microcephaly 19 DOID:0070281 ?Microcephaly 19, primary, autosomal recessive 617800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-84 coq2 27235 COQ2 {Multiple system atrophy, susceptibility to} 146500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-84 coq2 27235 COQ2 primary coenzyme Q10 deficiency 1 DOID:0070238 Coenzyme Q10 deficiency, primary, 1 607426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-218 coq4 51117 COQ4 primary coenzyme Q10 deficiency 7 DOID:0070244 Coenzyme Q10 deficiency, primary, 7 616276 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-297 coq6 51004 COQ6 primary coenzyme Q10 deficiency 6 DOID:0070243 Coenzyme Q10 deficiency, primary, 6 614650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-262 coq7 10229 COQ7 primary coenzyme Q10 deficiency 8 DOID:0070245 ?Coenzyme Q10 deficiency, primary, 8 616733 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-487 coq8aa 56997 COQ8A primary coenzyme Q10 deficiency 4 DOID:0070241 Coenzyme Q10 deficiency, primary, 4 612016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5543 coq8ab 56997 COQ8A primary coenzyme Q10 deficiency 4 DOID:0070241 Coenzyme Q10 deficiency, primary, 4 612016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-803 coq8b 79934 COQ8B nephrotic syndrome type 9 DOID:0080391 Nephrotic syndrome, type 9 615573 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-37 coq9 57017 COQ9 primary coenzyme Q10 deficiency 5 DOID:0070242 Coenzyme Q10 deficiency, primary, 5 614654 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060224-3 corin 10699 CORIN Preeclampsia/eclampsia 5 614595 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9512 coro1a 11151 CORO1A coronin-1A deficiency DOID:0060019 Immunodeficiency 8 615401 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-239 cox10 1352 COX10 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-239 cox10 1352 COX10 Leigh disease DOID:3652 Leigh syndrome due to mitochondrial COX4 deficiency 256000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-626 cox14 84987 COX14 cytochrome-c oxidase deficiency disease DOID:3762 ?Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-955 cox15 1355 COX15 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 DOID:0080358 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-955 cox15 1355 COX15 Leigh disease DOID:3652 Leigh syndrome due to cytochrome c oxidase deficiency 256000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-467 cox20 116228 COX20 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1775 cox4i2 84701 COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7715 cox6a1 1337 COX6A1 Charcot-Marie-Tooth disease recessive intermediate D DOID:0110203 Charcot-Marie-Tooth disease, recessive intermediate D 616039 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-129 cox6a2 1339 COX6A2 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-448 cox6b1 1340 COX6B1 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9136 cox8a 1351 COX8A cytochrome-c oxidase deficiency disease DOID:3762 ?Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010522-1 cp 1356 CP aceruloplasminemia DOID:0050711 Cerebellar ataxia 604290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010522-1 cp 1356 CP aceruloplasminemia DOID:0050711 Hemosiderosis, systemic, due to aceruloplasminemia 604290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010522-1 cp 1356 CP aceruloplasminemia DOID:0050711 [Hypoceruloplasminemia, hereditary] 604290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-331 cpa6 57094 CPA6 familial febrile seizures 11 DOID:0111308 Febrile seizures, familial, 11 614418 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-331 cpa6 57094 CPA6 familial temporal lobe epilepsy 5 DOID:0060752 Epilepsy, familial temporal lobe, 5 614417 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-428 cpamd8 27151 CPAMD8 Anterior segment dysgenesis 8 617319 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-92 cplane1 65250 CPLANE1 Joubert syndrome 17 DOID:0110986 Joubert syndrome 17 614615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-92 cplane1 65250 CPLANE1 Joubert syndrome with orofaciodigital defect DOID:0060376 Orofaciodigital syndrome VI 277170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161221-1 cplx1 10815 CPLX1 early infantile epileptic encephalopathy 63 DOID:0080426 Epileptic encephalopathy, early infantile, 63 617976 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9116 cpn1 1369 CPN1 Carboxypeptidase N deficiency 212070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9884 cpox 1371 CPOX hereditary coproporphyria DOID:13269 Coproporphyria 121300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9884 cpox 1371 CPOX hereditary coproporphyria DOID:13269 Harderoporphyria 121300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-17 cps1 1373 CPS1 {Pulmonary hypertension, neonatal, susceptibility to} 615371 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-17 cps1 1373 CPS1 carbamoyl phosphate synthetase I deficiency disease DOID:9280 Carbamoylphosphate synthetase I deficiency 237300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-925 cpt1aa 1374 CPT1A carnitine palmitoyltransferase I deficiency DOID:0090129 CPT deficiency, hepatic, type IA 255120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3250 cpt1ab 1374 CPT1A carnitine palmitoyltransferase I deficiency DOID:0090129 CPT deficiency, hepatic, type IA 255120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-590 cpt1ca 126129 CPT1C hereditary spastic paraplegia 73 DOID:0110818 ?Spastic paraplegia 73, autosomal dominant 616282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-155 cpt1cb 126129 CPT1C hereditary spastic paraplegia 73 DOID:0110818 ?Spastic paraplegia 73, autosomal dominant 616282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6719 cpt2 1376 CPT2 {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6719 cpt2 1376 CPT2 carnitine palmitoyltransferase II deficiency DOID:0060235 CPT II deficiency, infantile 600649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6719 cpt2 1376 CPT2 carnitine palmitoyltransferase II deficiency DOID:0060235 CPT II deficiency, lethal neonatal 608836 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6719 cpt2 1376 CPT2 carnitine palmitoyltransferase II deficiency DOID:0060235 CPT II deficiency, myopathic, stress-induced 255110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-168 cradd 8738 CRADD autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 34, with variant lissencephaly 614499 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-17 crata 1384 CRAT ?Neurodegeneration with brain iron accumulation 8 617917 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-162 cratb 1384 CRAT ?Neurodegeneration with brain iron accumulation 8 617917 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-382 crb1 23418 CRB1 Pigmented paravenous chorioretinal atrophy 172870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-382 crb1 23418 CRB1 Leber congenital amaurosis 8 DOID:0110079 Leber congenital amaurosis 8 613835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-382 crb1 23418 CRB1 retinitis pigmentosa 12 DOID:0110358 Retinitis pigmentosa-12 600105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060612-1 crb2a 286204 CRB2 Ventriculomegaly with cystic kidney disease 219730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060612-1 crb2a 286204 CRB2 focal segmental glomerulosclerosis 9 DOID:0111134 Focal segmental glomerulosclerosis 9 616220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060610-1 crb2b 286204 CRB2 Ventriculomegaly with cystic kidney disease 219730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060610-1 crb2b 286204 CRB2 focal segmental glomerulosclerosis 9 DOID:0111134 Focal segmental glomerulosclerosis 9 616220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-43 crbn 51185 CRBN autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 2 607417 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-750 creb1a 1385 CREB1 Histiocytoma, angiomatoid fibrous, somatic 612160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-355 creb1b 1385 CREB1 Histiocytoma, angiomatoid fibrous, somatic 612160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-181 creb3l1 90993 CREB3L1 osteogenesis imperfecta type 16 DOID:0110345 Osteogenesis imperfecta, type XVI 616229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-439 crebbpa 1387 CREBBP Menke-Hennekam syndrome 1 618332 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-439 crebbpa 1387 CREBBP Rubinstein-Taybi syndrome DOID:1933 Rubinstein-Taybi syndrome 1 180849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-102 crebbpb 1387 CREBBP Menke-Hennekam syndrome 1 618332 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-102 crebbpb 1387 CREBBP Rubinstein-Taybi syndrome DOID:1933 Rubinstein-Taybi syndrome 1 180849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120111-4 creld1a 78987 CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120111-4 creld1a 78987 CRELD1 {Atrioventricular septal defect, susceptibility to, 2} 606217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161219-1 creld1b 78987 CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161219-1 creld1b 78987 CRELD1 {Atrioventricular septal defect, susceptibility to, 2} 606217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-451 cript 9419 CRIPT Short stature with microcephaly and distinctive facies 615789 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-397 crlf1a 9244 CRLF1 cold-induced sweating syndrome 1 DOID:0080329 Cold-induced sweating syndrome 1 272430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-1 crlf1b 9244 CRLF1 cold-induced sweating syndrome 1 DOID:0080329 Cold-induced sweating syndrome 1 272430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-16 crppa 729920 CRPPA autosomal recessive limb-girdle muscular dystrophy type 2U DOID:0110295 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-16 crppa 729920 CRPPA congenital muscular dystrophy-dystroglycanopathy A7 DOID:0111234 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2619 crtap 10491 CRTAP osteogenesis imperfecta type 7 DOID:0110337 Osteogenesis imperfecta, type VII 610682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061027-225 crtc1a 23373 CRTC1 Mucoepidermoid salivary gland carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-266 crtc1b 23373 CRTC1 Mucoepidermoid salivary gland carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010403-1 crx 1406 CRX cone-rod dystrophy 2 DOID:0111005 Cone-rod retinal dystrophy-2 120970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010403-1 crx 1406 CRX Leber congenital amaurosis 7 DOID:0110333 Leber congenital amaurosis 7 613829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-2 cry1a 1407 CRY1 {Delayed sleep phase disorder, susceptibility to} 614163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-3 cry1b 1407 CRY1 {Delayed sleep phase disorder, susceptibility to} 614163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-4 cry3a 1407 CRY1 {Delayed sleep phase disorder, susceptibility to} 614163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-5 cry3b 1407 CRY1 {Delayed sleep phase disorder, susceptibility to} 614163 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020508-1 cryaa 1409 CRYAA cataract 9 multiple types DOID:0110266 Cataract 9, multiple types 604219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-2 cryaba 1410 CRYAB cataract 16 multiple types DOID:0110250 Cataract 16, multiple types 613763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-2 cryaba 1410 CRYAB dilated cardiomyopathy 1II DOID:0110450 Cardiomyopathy, dilated, 1II 615184 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-2 cryaba 1410 CRYAB fatal infantile hypertonic myofibrillar myopathy DOID:0080309 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-2 cryaba 1410 CRYAB myofibrillar myopathy 2 DOID:0080093 Myopathy, myofibrillar, 2 608810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-419 cryabb 1410 CRYAB cataract 16 multiple types DOID:0110250 Cataract 16, multiple types 613763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-419 cryabb 1410 CRYAB dilated cardiomyopathy 1II DOID:0110450 Cardiomyopathy, dilated, 1II 615184 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-419 cryabb 1410 CRYAB fatal infantile hypertonic myofibrillar myopathy DOID:0080309 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-419 cryabb 1410 CRYAB myofibrillar myopathy 2 DOID:0080093 Myopathy, myofibrillar, 2 608810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-107 cryba1a 1411 CRYBA1 cataract 10 multiple types DOID:0110258 Cataract 10, multiple types 600881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-326 cryba1b 1411 CRYBA1 cataract 10 multiple types DOID:0110258 Cataract 10, multiple types 600881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-8 cryba2a 1412 CRYBA2 cataract 42 DOID:0110237 ?Cataract 42 115900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-324 cryba2b 1412 CRYBA2 cataract 42 DOID:0110237 ?Cataract 42 115900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-143 cryba4 1413 CRYBA4 cataract 23 DOID:0110271 Cataract 23 610425 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010813-1 crybb1 1414 CRYBB1 cataract 17 multiple types DOID:0110270 Cataract 17, multiple types 611544 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-1 crybb2 1415 CRYBB2 cataract 3 multiple types DOID:0110269 Cataract 3, multiple types 601547 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-2 crybb3 1417 CRYBB3 cataract 22 multiple types DOID:0110268 Cataract 22 609741 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1782 crym 1428 CRYM autosomal dominant nonsyndromic deafness 40 DOID:0110566 Deafness, autosomal dominant 40 616357 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001205-1 csf1ra 1436 CSF1R Brain abnormalities, neurodegeneration, and dysosteosclerosis 618476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001205-1 csf1ra 1436 CSF1R adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 Leukoencephalopathy, diffuse hereditary, with spheroids 221820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-1 csf1rb 1436 CSF1R Brain abnormalities, neurodegeneration, and dysosteosclerosis 618476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-1 csf1rb 1436 CSF1R adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 Leukoencephalopathy, diffuse hereditary, with spheroids 221820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080115-1 csf2rb 1439 CSF2RB pulmonary alveolar proteinosis DOID:12120 Surfactant metabolism dysfunction, pulmonary, 5 614370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-4 csf3r 1441 CSF3R Neutropenia, severe congenital, 7, autosomal recessive 617014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-825 csnk1da 1453 CSNK1D advanced sleep phase syndrome 2 DOID:0110012 Advanced sleep-phase syndrome, familial, 2 615224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2385 csnk1db 1453 CSNK1D advanced sleep phase syndrome 2 DOID:0110012 Advanced sleep-phase syndrome, familial, 2 615224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-27 csnk2a1 1457 CSNK2A1 Okur-Chung neurodevelopmental syndrome 617062 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120709-73 cspp1a 79848 CSPP1 Joubert syndrome 21 DOID:0110990 Joubert syndrome 21 615636 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-619 cspp1b 79848 CSPP1 Joubert syndrome 21 DOID:0110990 Joubert syndrome 21 615636 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-119 csrp3 8048 CSRP3 dilated cardiomyopathy 1M DOID:0110449 ?Cardiomyopathy, dilated, 1M 607482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-119 csrp3 8048 CSRP3 hypertrophic cardiomyopathy 12 DOID:0110318 Cardiomyopathy, hypertrophic, 12 612124 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-373 cst3 1471 CST3 age related macular degeneration 11 DOID:0110023 {Macular degeneration, age-related, 11} 611953 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-373 cst3 1471 CST3 CST3-related cerebral amyloid angiopathy DOID:0070027 Cerebral amyloid angiopathy 105150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010130-1 ctbp1 1487 CTBP1 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-271 ctc1 80169 CTC1 Cerebroretinal microangiopathy with calcifications and cysts 612199 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-5 ctcf 10664 CTCF autosomal dominant non-syndromic intellectual disability 21 DOID:0070051 Mental retardation, autosomal dominant 21 615502 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040720-1 ctdp1 9150 CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy 604168 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-774 cth 1491 CTH Homocysteine, total plasma, elevated ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-774 cth 1491 CTH cystathioninuria DOID:0090142 Cystathioninuria 219500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-22 cthrc1a 115908 CTHRC1 Barrett's esophagus DOID:9206 Barrett esophagus/esophageal adenocarcinoma 614266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-46 cthrc1b 115908 CTHRC1 Barrett's esophagus DOID:9206 Barrett esophagus/esophageal adenocarcinoma 614266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991207-24 ctnna1 1495 CTNNA1 patterned macular dystrophy 2 DOID:0060864 Macular dystrophy, patterned, 2 608970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060815-3 ctnna2 1496 CTNNA2 Cortical dysplasia, complex, with other brain malformations 9 618174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 autosomal dominant non-syndromic intellectual disability 19 DOID:0070049 Neurodevelopmental disorder with spastic diplegia and visual defects 615075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 exudative vitreoretinopathy 7 DOID:0080264 Exudative vitreoretinopathy 7 617572 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 medulloblastoma DOID:0050902 Medulloblastoma, somatic 155255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-362 ctnnb1 1499 CTNNB1 pilomatrixoma DOID:5374 Pilomatricoma, somatic 132600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 autosomal dominant non-syndromic intellectual disability 19 DOID:0070049 Neurodevelopmental disorder with spastic diplegia and visual defects 615075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 exudative vitreoretinopathy 7 DOID:0080264 Exudative vitreoretinopathy 7 617572 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 medulloblastoma DOID:0050902 Medulloblastoma, somatic 155255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2575 ctnnb2 1499 CTNNB1 pilomatrixoma DOID:5374 Pilomatricoma, somatic 132600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-9 ctnnd1 1500 CTNND1 blepharocheilodontic syndrome 2 DOID:0080346 Blepharocheilodontic syndrome 2 617681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-352 ctns 1497 CTNS cystinosis DOID:1064 Cystinosis, atypical nephropathic 219800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-352 ctns 1497 CTNS cystinosis DOID:1064 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-352 ctns 1497 CTNS cystinosis DOID:1064 Cystinosis, nephropathic 219800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-352 ctns 1497 CTNS cystinosis DOID:1064 Cystinosis, ocular nonnephropathic 219750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-808 ctps1a 1503 CTPS1 Immunodeficiency 24 615897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-160 ctps1b 1503 CTPS1 Immunodeficiency 24 615897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-537 ctsa 5476 CTSA galactosialidosis DOID:0080540 Galactosialidosis 256540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2650 ctsba 1508 CTSB Keratolytic winter erythema 148370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070323-1 ctsbb 1508 CTSB Keratolytic winter erythema 148370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-9 ctsc 1075 CTSC Haim-Munk syndrome 245010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-9 ctsc 1075 CTSC aggressive periodontitis DOID:1474 Periodontitis 1, juvenile 170650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-9 ctsc 1075 CTSC Papillon-Lefevre disease DOID:3389 Papillon-Lefevre syndrome 245000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010131-8 ctsd 1509 CTSD neuronal ceroid lipofuscinosis 10 DOID:0110725 Ceroid lipofuscinosis, neuronal, 10 610127 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9831 ctsf 8722 CTSF neuronal ceroid lipofuscinosis 13 DOID:0110727 Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001205-4 ctsk 1513 CTSK pycnodysostosis DOID:0080038 Pycnodysostosis 265800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-79 ctu2 348180 CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 618142 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060228-6 cubn 8029 CUBN megaloblastic anemia DOID:13382 Megaloblastic anemia-1, Finnish type 261100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3376 cul3a 8452 CUL3 Pseudohypoaldosteronism, type IIE 614496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081007-1 cul3b 8452 CUL3 Pseudohypoaldosteronism, type IIE 614496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-208 cul4b 8450 CUL4B syndromic X-linked intellectual disability Cabezas type DOID:0060822 Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5868 cux1a 1523 CUX1 Global developmental delay with or without impaired intellectual development 618330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-260 cux1b 1523 CUX1 Global developmental delay with or without impaired intellectual development 618330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031204-9 cux2a 23316 CUX2 Epileptic encephalopathy, early infantile, 67 618141 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-176 cux2b 23316 CUX2 Epileptic encephalopathy, early infantile, 67 618141 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1118 cwc27 10283 CWC27 Retinitis pigmentosa with or without skeletal anomalies 250410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031204-5 cwf19l1 55280 CWF19L1 autosomal recessive spinocerebellar ataxia 17 DOID:0080064 Spinocerebellar ataxia, autosomal recessive 17 616127 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010619-2 cx27.5 2705 GJB1 Charcot-Marie-Tooth disease X-linked dominant 1 DOID:0110209 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 Hystrix-like ichthyosis with deafness 602540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 Keratoderma, palmoplantar, with deafness 148350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 Vohwinkel syndrome 124500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal dominant keratitis-ichthyosis-deafness syndrome DOID:0060871 Keratitis-ichthyosis-deafness syndrome 148210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal dominant nonsyndromic deafness 3A DOID:0110564 Deafness, autosomal dominant 3A 601544 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal dominant nonsyndromic deafness 3B DOID:0110565 Deafness, autosomal dominant 3B 612643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal recessive nonsyndromic deafness 1A DOID:0110475 Deafness, autosomal recessive 1A 220290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal recessive nonsyndromic deafness 1A DOID:0110475 Deafness, digenic GJB2/GJB6 220290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 autosomal recessive nonsyndromic deafness 1B DOID:0110476 Deafness, autosomal recessive 1B 612645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 Bart-Pumphrey syndrome DOID:0050658 Bart-Pumphrey syndrome 149200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 2706 GJB2 Clouston syndrome DOID:14693 Ectodermal dysplasia 2, Clouston type 129500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 Hystrix-like ichthyosis with deafness 602540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 Keratoderma, palmoplantar, with deafness 148350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 Vohwinkel syndrome 124500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal dominant keratitis-ichthyosis-deafness syndrome DOID:0060871 Keratitis-ichthyosis-deafness syndrome 148210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal dominant nonsyndromic deafness 3A DOID:0110564 Deafness, autosomal dominant 3A 601544 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal dominant nonsyndromic deafness 3B DOID:0110565 Deafness, autosomal dominant 3B 612643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal recessive nonsyndromic deafness 1A DOID:0110475 Deafness, autosomal recessive 1A 220290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal recessive nonsyndromic deafness 1A DOID:0110475 Deafness, digenic GJB2/GJB6 220290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 autosomal recessive nonsyndromic deafness 1B DOID:0110476 Deafness, autosomal recessive 1B 612645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 Bart-Pumphrey syndrome DOID:0050658 Bart-Pumphrey syndrome 149200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-1 cx30.3 10804 GJB6 Clouston syndrome DOID:14693 Ectodermal dysplasia 2, Clouston type 129500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-3 cx31.7 2705 GJB1 Charcot-Marie-Tooth disease X-linked dominant 1 DOID:0110209 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040406-3 cx34.4 127534 GJB4 erythrokeratodermia variabilis et progressiva 2 DOID:0080248 Erythrokeratodermia variabilis et progressiva 2 617524 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-174 cx35.4 2707 GJB3 Deafness, autosomal dominant, with peripheral neuropathy ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-174 cx35.4 2707 GJB3 Deafness, autosomal recessive ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-174 cx35.4 2707 GJB3 autosomal dominant nonsyndromic deafness 2B DOID:0110559 Deafness, autosomal dominant 2B 612644 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-174 cx35.4 2707 GJB3 autosomal recessive nonsyndromic deafness 1A DOID:0110475 Deafness, digenic, GJB2/GJB3 220290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-174 cx35.4 2707 GJB3 erythrokeratodermia variabilis et progressiva 1 DOID:0111195 Erythrokeratodermia variabilis et progressiva 1 133200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 atrioventricular septal defect DOID:0050651 Atrioventricular septal defect 3 600309 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 craniometaphyseal dysplasia DOID:0080033 Craniometaphyseal dysplasia, autosomal recessive 218400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 Erythrokeratodermia variabilis et progressiva 3 617525 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 hypoplastic left heart syndrome DOID:9955 Hypoplastic left heart syndrome 1 241550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 oculodentodigital dysplasia DOID:0060291 Oculodentodigital dysplasia 164200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 oculodentodigital dysplasia DOID:0060291 Oculodentodigital dysplasia, autosomal recessive 257850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 Palmoplantar keratoderma with congenital alopecia 104100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-10 cx40.8 2697 GJA1 syndactyly DOID:11193 Syndactyly, type III 186100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 atrioventricular septal defect DOID:0050651 Atrioventricular septal defect 3 600309 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 craniometaphyseal dysplasia DOID:0080033 Craniometaphyseal dysplasia, autosomal recessive 218400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 Erythrokeratodermia variabilis et progressiva 3 617525 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 hypoplastic left heart syndrome DOID:9955 Hypoplastic left heart syndrome 1 241550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 oculodentodigital dysplasia DOID:0060291 Oculodentodigital dysplasia 164200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 oculodentodigital dysplasia DOID:0060291 Oculodentodigital dysplasia, autosomal recessive 257850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 Palmoplantar keratoderma with congenital alopecia 104100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991105-4 cx43 2697 GJA1 syndactyly DOID:11193 Syndactyly, type III 186100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-134 cx47.1 57165 GJC2 hereditary lymphedema IC DOID:0070208 Lymphatic malformation 3 613480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-134 cx47.1 57165 GJC2 hereditary spastic paraplegia 44 DOID:0110796 Spastic paraplegia 44, autosomal recessive 613206 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-134 cx47.1 57165 GJC2 hypomyelinating leukodystrophy 2 DOID:0060787 Leukodystrophy, hypomyelinating, 2 608804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030318-1 cxcl12a 6387 CXCL12 {AIDS, resistance to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030721-1 cxcl12b 6387 CXCL12 {AIDS, resistance to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070302-4 cxcr1 3577 CXCR1 {AIDS, slow progression to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020102-1 cxcr4a 7852 CXCR4 Myelokathexis, isolated ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020102-1 cxcr4a 7852 CXCR4 WHIM syndrome DOID:0060591 WHIM syndrome 193670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010614-1 cxcr4b 7852 CXCR4 Myelokathexis, isolated ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010614-1 cxcr4b 7852 CXCR4 WHIM syndrome DOID:0060591 WHIM syndrome 193670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-3 cyb561 1534 CYB561 Orthostatic hypotension 2 618182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2148 cyb5a 1528 CYB5A Methemoglobinemia and ambiguous genitalia 250790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3281 cyb5r3 1727 CYB5R3 Methemoglobinemia, type I 250800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3281 cyb5r3 1727 CYB5R3 Methemoglobinemia, type II 250800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1526 cyba 1535 CYBA autosomal recessive chronic granulomatous disease cytochrome b-negative DOID:0070193 Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1380 cybb 1536 CYBB Immunodeficiency 34, mycobacteriosis, X-linked 300645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1380 cybb 1536 CYBB X-linked chronic granulomatous disease DOID:0070195 Chronic granulomatous disease, X-linked 306400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031105-2 cyc1 1537 CYC1 mitochondrial complex III deficiency nuclear type 6 DOID:0080115 Mitochondrial complex III deficiency, nuclear type 6 615453 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-627 cycsa 54205 CYCS thrombocytopenia DOID:1588 Thrombocytopenia 4 612004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-38 cycsb 54205 CYCS thrombocytopenia DOID:1588 Thrombocytopenia 4 612004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080724-2 cyfip2 26999 CYFIP2 early infantile epileptic encephalopathy 65 DOID:0080430 Epileptic encephalopathy, early infantile, 65 618008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-2 cylda 1540 CYLD Cylindromatosis, familial 132700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-2 cylda 1540 CYLD Trichoepithelioma, multiple familial, 1 601606 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-2 cylda 1540 CYLD Brooke-Spiegler syndrome DOID:0050693 Brooke-Spiegler syndrome 605041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100208-1 cyldb 1540 CYLD Cylindromatosis, familial 132700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100208-1 cyldb 1540 CYLD Trichoepithelioma, multiple familial, 1 601606 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100208-1 cyldb 1540 CYLD Brooke-Spiegler syndrome DOID:0050693 Brooke-Spiegler syndrome 605041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010306-1 cyp11a1 1583 CYP11A1 congenital adrenal insufficiency DOID:0050546 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130911-1 cyp11a2 1583 CYP11A1 congenital adrenal insufficiency DOID:0050546 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040213-2 cyp17a1 1586 CYP17A1 congenital adrenal hyperplasia DOID:0050811 17,20-lyase deficiency, isolated 202110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040213-2 cyp17a1 1586 CYP17A1 congenital adrenal hyperplasia DOID:0050811 17-alpha-hydroxylase/17,20-lyase deficiency 202110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-43 cyp19a1a 1588 CYP19A1 Aromatase deficiency 613546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-43 cyp19a1a 1588 CYP19A1 aromatase excess syndrome DOID:0090122 Aromatase excess syndrome 139300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-4 cyp19a1b 1588 CYP19A1 Aromatase deficiency 613546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-4 cyp19a1b 1588 CYP19A1 aromatase excess syndrome DOID:0090122 Aromatase excess syndrome 139300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030902-1 cyp1b1 1545 CYP1B1 Anterior segment dysgenesis 6, multiple subtypes 617315 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030902-1 cyp1b1 1545 CYP1B1 buphthalmos DOID:11211 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 231300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-6 cyp21a2 1589 CYP21A2 congenital adrenal hyperplasia DOID:0050811 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-6 cyp21a2 1589 CYP21A2 congenital adrenal hyperplasia DOID:0050811 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-1 cyp24a1 1591 CYP24A1 Hypercalcemia, infantile, 1 143880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2908 cyp26b1 56603 CYP26B1 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 614416 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050714-2 cyp26c1 340665 CYP26C1 Focal facial dermal dysplasia 4 614974 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111005-2 cyp27b1 1594 CYP27B1 rickets DOID:10609 Vitamin D-dependent rickets, type I 264700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110114-1 cyp2r1 120227 CYP2R1 rickets DOID:10609 Rickets due to defect in vitamin D 25-hydroxylation 600081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070730-1 cyp2u1 113612 CYP2U1 hereditary spastic paraplegia 56 DOID:0110808 Spastic paraplegia 56, autosomal recessive 615030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-601 cyp4v8 285440 CYP4V2 Bietti crystalline corneoretinal dystrophy DOID:0050664 Bietti crystalline corneoretinal dystrophy 210370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-293 cyp7b1 9420 CYP7B1 congenital bile acid synthesis defect 3 DOID:0111070 Bile acid synthesis defect, congenital, 3 613812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-293 cyp7b1 9420 CYP7B1 hereditary spastic paraplegia 5A DOID:0110810 Spastic paraplegia 5A, autosomal recessive 270800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-482 d2hgdh 728294 D2HGDH D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria 600721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060528-1 dab1a 1600 DAB1 spinocerebellar ataxia type 37 DOID:0050984 Spinocerebellar ataxia 37 615945 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7958 dab1b 1600 DAB1 spinocerebellar ataxia type 37 DOID:0050984 Spinocerebellar ataxia 37 615945 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040623-3 dact1 51339 DACT1 ?Townes-Brocks syndrome 2 617466 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021223-1 dag1 1605 DAG1 autosomal recessive limb-girdle muscular dystrophy type 2P DOID:0110293 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021223-1 dag1 1605 DAG1 congenital muscular dystrophy-dystroglycanopathy type A9 DOID:0111232 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-135 dars1 1615 DARS1 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-443 dars2 55157 DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 611105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000405-6 dazl 1618 DAZL {Spermatogenic failure, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990621-3 dbh 1621 DBH dopamine beta-hydroxylase deficiency DOID:0090145 Orthostatic hypotension 1, due to DBH deficiency 223360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-85 dbt 1629 DBT maple syrup urine disease DOID:9269 Maple syrup urine disease, type II 248600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071008-1 dcaf17 80067 DCAF17 Woodhouse-Sakati syndrome 241080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-578 dcaf8 50717 DCAF8 giant axonal neuropathy 2 DOID:0090069 ?Giant axonal neuropathy 2, autosomal dominant 610100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011101-2 dcc 1630 DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011101-2 dcc 1630 DCC Mirror movements 1 and/or agenesis of the corpus callosum 157600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011101-2 dcc 1630 DCC colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011101-2 dcc 1630 DCC esophageal cancer DOID:5041 Esophageal carcinoma, somatic 133239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120410-3 dchs1a 8642 DCHS1 mitral valve prolapse DOID:988 Mitral valve prolapse 2 607829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120410-3 dchs1a 8642 DCHS1 Van Maldergem syndrome 1 DOID:0080585 Van Maldergem syndrome 1 601390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-41 dchs1b 8642 DCHS1 mitral valve prolapse DOID:988 Mitral valve prolapse 2 607829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-41 dchs1b 8642 DCHS1 Van Maldergem syndrome 1 DOID:0080585 Van Maldergem syndrome 1 601390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-72 dclre1c 64421 DCLRE1C Omenn syndrome DOID:0060010 Omenn syndrome 603554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-72 dclre1c 64421 DCLRE1C severe combined immunodeficiency with sensitivity to ionizing radiation DOID:0090012 Severe combined immunodeficiency, Athabascan type 602450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010102-1 dcn 1634 DCN congenital stromal corneal dystrophy DOID:0060445 Corneal dystrophy, congenital stromal 610048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040311-1 dcps 28960 DCPS Al-Raqad syndrome 616459 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2205 dctn1a 1639 DCTN1 amyotrophic lateral sclerosis type 1 DOID:0060193 {Amyotrophic lateral sclerosis, susceptibility to} 105400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2205 dctn1a 1639 DCTN1 distal hereditary motor neuronopathy type 7B DOID:0111202 Neuropathy, distal hereditary motor, type VIIB 607641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2205 dctn1a 1639 DCTN1 Perry syndrome DOID:0060486 Perry syndrome 168605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-28 dctn1b 1639 DCTN1 amyotrophic lateral sclerosis type 1 DOID:0060193 {Amyotrophic lateral sclerosis, susceptibility to} 105400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-28 dctn1b 1639 DCTN1 distal hereditary motor neuronopathy type 7B DOID:0111202 Neuropathy, distal hereditary motor, type VIIB 607641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-28 dctn1b 1639 DCTN1 Perry syndrome DOID:0060486 Perry syndrome 168605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7002 dcxr 51181 DCXR pentosuria DOID:0111258 [Pentosuria] 260800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-169 ddb2 1643 DDB2 xeroderma pigmentosum group E DOID:0110846 Xeroderma pigmentosum, group E, DDB-negative subtype 278740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2656 ddc 1644 DDC aromatic L-amino acid decarboxylase deficiency DOID:0090123 Aromatic L-amino acid decarboxylase deficiency 608643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111020-16 ddhd1a 80821 DDHD1 hereditary spastic paraplegia 28 DOID:0110779 Spastic paraplegia 28, autosomal recessive 609340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-18 ddhd1b 80821 DDHD1 hereditary spastic paraplegia 28 DOID:0110779 Spastic paraplegia 28, autosomal recessive 609340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080519-4 ddhd2 23259 DDHD2 hereditary spastic paraplegia 54 DOID:0110806 Spastic paraplegia 54, autosomal recessive 615033 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2147 ddost 1650 DDOST congenital disorder of glycosylation Ir DOID:0080569 ?Congenital disorder of glycosylation, type Ir 614507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090316-2 ddr2a 4921 DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type 271665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090316-2 ddr2a 4921 DDR2 Warburg-Cinotti syndrome 618175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-361 ddr2b 4921 DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type 271665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-361 ddr2b 4921 DDR2 Warburg-Cinotti syndrome 618175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1050 ddrgk1 65992 DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type 602557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-191 ddx11 1663 DDX11 Warsaw breakage syndrome DOID:0060535 Warsaw breakage syndrome 613398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1565 ddx3xa 1654 DDX3X Mental retardation, X-linked 102 300958 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-150 ddx3xb 1654 DDX3X Mental retardation, X-linked 102 300958 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1927 ddx41 51428 DDX41 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} 616871 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-7 ddx58 23586 DDX58 Singleton-Merten syndrome 2 616298 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-665 ddx59 83479 DDX59 orofaciodigital syndrome V DOID:0060375 Orofaciodigital syndrome V 174300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-163 deaf1 10522 DEAF1 ?Dyskinesia, seizures, and intellectual developmental disorder 617171 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-163 deaf1 10522 DEAF1 autosomal dominant non-syndromic intellectual disability 24 DOID:0070054 Mental retardation, autosomal dominant 24 615828 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5283 degs1 8560 DEGS1 Leukodystrophy, hypomyelinating, 18 618404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-191 dek 7913 DEK Leukemia, acute nonlymphocytic 125264 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071211-1 dennd5a 23258 DENND5A early infantile epileptic encephalopathy 49 DOID:0080441 Epileptic encephalopathy, early infantile, 49 617281 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-356 depdc5 9681 DEPDC5 Epilepsy, familial focal, with variable foci 1 604364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-221 desma 1674 DES Scapuloperoneal syndrome, neurogenic, Kaeser type 181400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-221 desma 1674 DES dilated cardiomyopathy 1I DOID:0110431 Cardiomyopathy, dilated, 1I 604765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-221 desma 1674 DES myofibrillar myopathy 1 DOID:0080092 Myopathy, myofibrillar, 1 601419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061027-102 desmb 1674 DES Scapuloperoneal syndrome, neurogenic, Kaeser type 181400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061027-102 desmb 1674 DES dilated cardiomyopathy 1I DOID:0110431 Cardiomyopathy, dilated, 1I 604765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061027-102 desmb 1674 DES myofibrillar myopathy 1 DOID:0080092 Myopathy, myofibrillar, 1 601419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4600 dgat1a 8694 DGAT1 congenital diarrhea 7 with exudative enteropathy DOID:0060778 ?Diarrhea 7, protein-losing enteropathy type 615863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-158 dgat1b 8694 DGAT1 congenital diarrhea 7 with exudative enteropathy DOID:0060778 ?Diarrhea 7, protein-losing enteropathy type 615863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090512-7 dgke 8526 DGKE nephrotic syndrome type 7 DOID:0080388 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090512-7 dgke 8526 DGKE nephrotic syndrome type 7 DOID:0080388 Nephrotic syndrome, type 7 615008 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-14 dguok 1716 DGUOK Portal hypertension, noncirrhotic 617068 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-14 dguok 1716 DGUOK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 617070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-14 dguok 1716 DGUOK mitochondrial DNA depletion syndrome 3 DOID:0080121 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-73 dhcr24 1718 DHCR24 Desmosterolosis 602398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-9 dhcr7 1717 DHCR7 Smith-Lemli-Opitz syndrome DOID:14692 Smith-Lemli-Opitz syndrome 270400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2236 dhdds 79947 DHDDS developmental delay and seizures with or without movement abnormalities DOID:0080473 Developmental delay and seizures with or without movement abnormalities 617836 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2236 dhdds 79947 DHDDS retinitis pigmentosa 59 DOID:0110352 ?Congenital disorder of glycosylation, type 1bb 613861 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2236 dhdds 79947 DHDDS retinitis pigmentosa 59 DOID:0110352 Retinitis pigmentosa 59 613861 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010406-5 dhfr 1719 DHFR megaloblastic anemia DOID:13382 Megaloblastic anemia due to dihydrofolate reductase deficiency 613839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-5 dhh 50846 DHH 46 XY gonadal dysgenesis DOID:14448 46XY partial gonadal dysgenesis, with minifascicular neuropathy 607080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-5 dhh 50846 DHH 46 XY gonadal dysgenesis DOID:14448 46XY sex reversal 7 233420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3157 dhodh 1723 DHODH postaxial acrofacial dysostosis DOID:0111259 Miller syndrome 263750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2001 dhps 1725 DHPS Neurodevelopmental disorder with seizures and speech and walking impairment 618480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-44 dhtkd1 55526 DHTKD1 2-aminoadipic 2-oxoadipic aciduria 204750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-44 dhtkd1 55526 DHTKD1 Charcot-Marie-Tooth disease axonal type 2Q DOID:0110170 ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-833 dhx30 22907 DHX30 Neurodevelopmental disorder with severe motor impairment and absent language 617804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1144 dhx38 9785 DHX38 Retinitis pigmentosa 84 618220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1303 diabloa 56616 DIABLO autosomal dominant nonsyndromic deafness 64 DOID:0110585 Deafness, autosomal dominant 64 614152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-202 diablob 56616 DIABLO autosomal dominant nonsyndromic deafness 64 DOID:0110585 Deafness, autosomal dominant 64 614152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090115-1 diaph2 1730 DIAPH2 premature ovarian failure DOID:5426 ?Premature ovarian failure 2A 300511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-144 diaph3 81624 DIAPH3 autosomal dominant auditory neuropathy 1 DOID:0060690 Auditory neuropathy, autosomal dominant, 1 609129 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3445 dicer1 23405 DICER1 GLOW syndrome, somatic mosaic 618272 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3445 dicer1 23405 DICER1 Rhabdomyosarcoma, embryonal, 2 180295 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3445 dicer1 23405 DICER1 multinodular goiter DOID:0050489 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 138800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3445 dicer1 23405 DICER1 pleuropulmonary blastoma DOID:4769 Pleuropulmonary blastoma 601200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2305 dip2ba 57609 DIP2B Mental retardation, FRA12A type 136630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100729-4 dip2bb 57609 DIP2B Mental retardation, FRA12A type 136630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-171 dis3l2 129563 DIS3L2 Perlman syndrome DOID:0060476 Perlman syndrome 267000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090122-1 disc1 27185 DISC1 schizophrenia 9 DOID:0070085 {Schizophrenia 9, susceptibility to} 604906 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-120 dkc1 1736 DKC1 X-linked dyskeratosis congenita DOID:0070025 Dyskeratosis congenita, X-linked 305000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2921 dlat 1737 DLAT pyruvate decarboxylase deficiency DOID:3649 Pyruvate dehydrogenase E2 deficiency 245348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-114 dlb 10683 DLL3 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 1, autosomal recessive 277300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000125-4 dlc 10683 DLL3 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 1, autosomal recessive 277300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130206-12 dlc1 10395 DLC1 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040120-4 dldh 1738 DLD maple syrup urine disease DOID:9269 Dihydrolipoamide dehydrogenase deficiency 246900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-93 dlg3 1741 DLG3 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 90 300850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-73 dll4 54567 DLL4 Adams-Oliver syndrome 6 616589 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-1 dlst 1743 DLST Paragangliomas 7 618475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-280 dlx3b 1747 DLX3 Trichodontoosseous syndrome 190320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-280 dlx3b 1747 DLX3 amelogenesis imperfecta type 4 DOID:0110053 Amelogenesis imperfecta, type IV 104510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-73 dlx4a 1748 DLX4 orofacial cleft 15 DOID:0080408 ?Orofacial cleft 15 616788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-50 dlx4b 1748 DLX4 orofacial cleft 15 DOID:0080408 ?Orofacial cleft 15 616788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-49 dlx5a 1749 DLX5 split hand-foot malformation 1 with sensorineural hearing loss DOID:0090024 ?Split-hand/foot malformation 1 with sensorineural hearing loss 220600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-1 dmd 1756 DMD Becker muscular dystrophy DOID:9883 Becker muscular dystrophy 300376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-1 dmd 1756 DMD Duchenne muscular dystrophy DOID:11723 Duchenne muscular dystrophy 310200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010426-1 dmd 1756 DMD X-linked dilated cardiomyopathy DOID:0110461 Cardiomyopathy, dilated, 3B 302045 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080227-8 dmgdh 29958 DMGDH Dimethylglycine dehydrogenase deficiency 605850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031007-6 dmxl2 23312 DMXL2 ?Polyendocrine-polyneuropathy syndrome 616113 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031007-6 dmxl2 23312 DMXL2 autosomal dominant nonsyndromic deafness 71 DOID:0080267 ?Deafness, autosomal dominant 71 617605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-71 dna2 1763 DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 615156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-71 dna2 1763 DNA2 Seckel syndrome 8 DOID:0070009 ?Seckel syndrome 8 615807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031114-4 dnaaf1 123872 DNAAF1 primary ciliary dyskinesia 13 DOID:0110618 Ciliary dyskinesia, primary, 13 613193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-128 dnaaf2 55172 DNAAF2 primary ciliary dyskinesia 10 DOID:0110612 Ciliary dyskinesia, primary, 10 612518 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-296 dnaaf3 352909 DNAAF3 primary ciliary dyskinesia 2 DOID:0110626 Ciliary dyskinesia, primary, 2 606763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1892 dnaaf4 161582 DNAAF4 {Dyslexia, susceptibility to, 1} 127700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1892 dnaaf4 161582 DNAAF4 primary ciliary dyskinesia 25 DOID:0110615 Ciliary dyskinesia, primary, 25 615482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120511-3 dnaaf5 54919 DNAAF5 primary ciliary dyskinesia 18 DOID:0110604 Ciliary dyskinesia, primary, 18 614874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-3 dnah1 25981 DNAH1 primary ciliary dyskinesia 37 DOID:0080266 ?Ciliary dyskinesia, primary, 37 617577 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-3 dnah1 25981 DNAH1 spermatogenic failure 18 DOID:0070165 Spermatogenic failure 18 617576 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-8 dnah11 8701 DNAH11 primary ciliary dyskinesia 7 DOID:0110605 Ciliary dyskinesia, primary, 7, with or without situs inversus 611884 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-177 dnah5 1767 DNAH5 primary ciliary dyskinesia 3 DOID:0110599 Ciliary dyskinesia, primary, 3, with or without situs inversus 608644 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020925-1 dnah9 1770 DNAH9 Ciliary dyskinesia, primary, 40 618300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040910-7 dnai1.1 27019 DNAI1 primary ciliary dyskinesia 1 DOID:0110594 Ciliary dyskinesia, primary, 1, with or without situs inversus 244400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1302 dnai1.2 27019 DNAI1 primary ciliary dyskinesia 1 DOID:0110594 Ciliary dyskinesia, primary, 1, with or without situs inversus 244400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-46 dnai2a 64446 DNAI2 primary ciliary dyskinesia 9 DOID:0110622 Ciliary dyskinesia, primary, 9, with or without situs inversus 612444 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131016-1 dnai2b 64446 DNAI2 primary ciliary dyskinesia 9 DOID:0110622 Ciliary dyskinesia, primary, 9, with or without situs inversus 612444 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031113-9 dnajb11 51726 DNAJB11 Polycystic kidney disease 6 with or without polycystic liver disease 618061 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040910-4 dnajb13 374407 DNAJB13 primary ciliary dyskinesia 34 DOID:0110610 Ciliary dyskinesia, primary, 34 617091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-537 dnajb2 3300 DNAJB2 distal spinal muscular atrophy type 5 DOID:0111214 Spinal muscular atrophy, distal, autosomal recessive, 5 614881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-45 dnajb6a 10049 DNAJB6 autosomal dominant limb-girdle muscular dystrophy type 1 DOID:0110305 Muscular dystrophy, limb-girdle, autosomal dominant 1 603511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1122 dnajb6b 10049 DNAJB6 autosomal dominant limb-girdle muscular dystrophy type 1 DOID:0110305 Muscular dystrophy, limb-girdle, autosomal dominant 1 603511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070801-3 dnajc12 56521 DNAJC12 Hyperphenylalaninemia, mild, non-BH4-deficient 617384 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1730 dnajc19 131118 DNAJC19 3-methylglutaconic aciduria type 5 DOID:0110000 3-methylglutaconic aciduria, type V 610198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8928 dnajc21 134218 DNAJC21 Bone marrow failure syndrome 3 617052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1264 dnajc3a 5611 DNAJC3 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 616192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000831-4 dnajc3b 5611 DNAJC3 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 616192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031113-20 dnajc5aa 80331 DNAJC5 neuronal ceroid lipofuscinosis 4B DOID:0110720 Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081021-2 dnajc5ab 80331 DNAJC5 neuronal ceroid lipofuscinosis 4B DOID:0110720 Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-2 dnajc6 9829 DNAJC6 Parkinson's disease 19A DOID:0060891 Parkinson disease 19a, juvenile-onset 615528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-2 dnajc6 9829 DNAJC6 Parkinson's disease 19A DOID:0060891 Parkinson disease 19b, early-onset 615528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-178 dnal1 83544 DNAL1 primary ciliary dyskinesia 16 DOID:0110613 Ciliary dyskinesia, primary, 16 614017 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-122 dnal4a 10126 DNAL4 ?Mirror movements 3 616059 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-510 dnal4b 10126 DNAL4 ?Mirror movements 3 616059 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-423 dnase1 1773 DNASE1 systemic lupus erythematosus DOID:9074 {Systemic lupus erythematosus, susceptibility to} 152700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-27 dnm1a 1759 DNM1 early infantile epileptic encephalopathy 31 DOID:0080437 Epileptic encephalopathy, early infantile, 31 616346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100920-3 dnm1b 1759 DNM1 early infantile epileptic encephalopathy 31 DOID:0080437 Epileptic encephalopathy, early infantile, 31 616346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1556 dnm1l 10059 DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 614388 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1556 dnm1l 10059 DNM1L optic atrophy DOID:5723 Optic atrophy 5 610708 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-84 dnm2a 1785 DNM2 Lethal congenital contracture syndrome 5 615368 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-84 dnm2a 1785 DNM2 centronuclear myopathy 1 DOID:0111223 Centronuclear myopathy 1 160150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-84 dnm2a 1785 DNM2 Charcot-Marie-Tooth disease dominant intermediate B DOID:0110197 Charcot-Marie-Tooth disease, axonal type 2M 606482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-84 dnm2a 1785 DNM2 Charcot-Marie-Tooth disease dominant intermediate B DOID:0110197 Charcot-Marie-Tooth disease, dominant intermediate B 606482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2371 dnm2b 1785 DNM2 Lethal congenital contracture syndrome 5 615368 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2371 dnm2b 1785 DNM2 centronuclear myopathy 1 DOID:0111223 Centronuclear myopathy 1 160150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2371 dnm2b 1785 DNM2 Charcot-Marie-Tooth disease dominant intermediate B DOID:0110197 Charcot-Marie-Tooth disease, axonal type 2M 606482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2371 dnm2b 1785 DNM2 Charcot-Marie-Tooth disease dominant intermediate B DOID:0110197 Charcot-Marie-Tooth disease, dominant intermediate B 606482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101026-2 dnmbp 23268 DNMBP Cataract 48 618415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-15 dnmt1 1786 DNMT1 autosomal dominant cerebellar ataxia, deafness and narcolepsy DOID:0050968 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 604121 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-15 dnmt1 1786 DNMT1 hereditary sensory neuropathy type 1E DOID:0070158 Neuropathy, hereditary sensory, type IE 614116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-5 dnmt3aa 1788 DNMT3A Tatton-Brown-Rahman syndrome 615879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-5 dnmt3aa 1788 DNMT3A acute myeloid leukemia DOID:9119 Acute myeloid leukemia, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-3 dnmt3ab 1788 DNMT3A Tatton-Brown-Rahman syndrome 615879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-3 dnmt3ab 1788 DNMT3A acute myeloid leukemia DOID:9119 Acute myeloid leukemia, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-4 dnmt3ba 1789 DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID:0090008 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-1 dnmt3bb.1 1789 DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID:0090008 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990712-11 dnmt3bb.2 1789 DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID:0090008 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050314-2 dnmt3bb.3 1789 DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID:0090008 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031125-1 dock2 1794 DOCK2 Immunodeficiency 40 616433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100624-1 dock3 1795 DOCK3 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 618292 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120411-11 dock6 57572 DOCK6 Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 2 614219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-15 dock7 85440 DOCK7 early infantile epileptic encephalopathy 23 DOID:0080415 Epileptic encephalopathy, early infantile, 23 615859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-743 dock8 81704 DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-103 dok7 285489 DOK7 ?Fetal akinesia deformation sequence 3 618389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-103 dok7 285489 DOK7 congenital myasthenic syndrome 10 DOID:0110668 Myasthenic syndrome, congenital, 10 254300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-59 dolk 22845 DOLK congenital disorder of glycosylation Im DOID:0080565 Congenital disorder of glycosylation, type Im 610768 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-18 dpagt1 1798 DPAGT1 congenital disorder of glycosylation Ij DOID:0080562 Congenital disorder of glycosylation, type Ij 608093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-18 dpagt1 1798 DPAGT1 congenital myasthenic syndrome 13 DOID:0110676 Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041024-2 dpf2 5977 DPF2 Coffin-Siris syndrome 7 618027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-411 dph1 1801 DPH1 Developmental delay with short stature, dysmorphic facial features, and sparse hair 616901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-115 dpm1 8813 DPM1 congenital disorder of glycosylation Ie DOID:0080557 Congenital disorder of glycosylation, type Ie 608799 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9093 dpm2 8818 DPM2 congenital disorder of glycosylation Iu DOID:0080571 Congenital disorder of glycosylation, type Iu 615042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1782 dpm3 54344 DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090918-4 dpp6a 1804 DPP6 {Ventricular fibrillation, paroxysmal familial, 2} 612956 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090918-4 dpp6a 1804 DPP6 autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 Mental retardation, autosomal dominant 33 616311 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-88 dpp6b 1804 DPP6 {Ventricular fibrillation, paroxysmal familial, 2} 612956 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-88 dpp6b 1804 DPP6 autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 Mental retardation, autosomal dominant 33 616311 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-727 dpyda.1 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 5-fluorouracil toxicity 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-727 dpyda.1 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 Dihydropyrimidine dehydrogenase deficiency 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-970 dpyda.2 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 5-fluorouracil toxicity 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-970 dpyda.2 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 Dihydropyrimidine dehydrogenase deficiency 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-37 dpyda.3 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 5-fluorouracil toxicity 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-37 dpyda.3 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 Dihydropyrimidine dehydrogenase deficiency 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2459 dpydb 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 5-fluorouracil toxicity 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2459 dpydb 1806 DPYD dihydropyrimidine dehydrogenase deficiency DOID:14218 Dihydropyrimidine dehydrogenase deficiency 274270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-1 dpys 1807 DPYS Dihydropyrimidinuria 222748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-360 dram2a 128338 DRAM2 Cone-rod dystrophy 21 616502 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-141 dram2b 128338 DRAM2 Cone-rod dystrophy 21 616502 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-218 drc1 92749 DRC1 primary ciliary dyskinesia 21 DOID:0110596 Ciliary dyskinesia, primary, 21 615294 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021119-1 drd3 1814 DRD3 essential tremor DOID:4990 {Essential tremor, hereditary, 1} 190300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021119-1 drd3 1814 DRD3 schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-996 drd4a 1815 DRD4 Autonomic nervous system dysfunction ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-996 drd4a 1815 DRD4 [Novelty seeking personality] 601696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-996 drd4a 1815 DRD4 attention deficit hyperactivity disorder DOID:1094 {Attention deficit-hyperactivity disorder} 143465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-3 drd4b 1815 DRD4 Autonomic nervous system dysfunction ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-3 drd4b 1815 DRD4 [Novelty seeking personality] 601696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-3 drd4b 1815 DRD4 attention deficit hyperactivity disorder DOID:1094 {Attention deficit-hyperactivity disorder} 143465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130522-2 drd5a 1816 DRD5 {Blepharospasm, primary benign} 606798 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130522-2 drd5a 1816 DRD5 attention deficit hyperactivity disorder DOID:1094 {Attention deficit-hyperactivity disorder, susceptibility to} 143465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130522-3 drd5b 1816 DRD5 {Blepharospasm, primary benign} 606798 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130522-3 drd5b 1816 DRD5 attention deficit hyperactivity disorder DOID:1094 {Attention deficit-hyperactivity disorder, susceptibility to} 143465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-202 dse 29940 DSE Ehlers-Danlos syndrome, musculocontractural type 2 615539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7531 dsg2.1 1829 DSG2 arrhythmogenic right ventricular dysplasia 10 DOID:0110081 Arrhythmogenic right ventricular dysplasia 10 610193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7531 dsg2.1 1829 DSG2 dilated cardiomyopathy 1BB DOID:0110458 Cardiomyopathy, dilated, 1BB 612877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140723-1 dsg2.2 1829 DSG2 arrhythmogenic right ventricular dysplasia 10 DOID:0110081 Arrhythmogenic right ventricular dysplasia 10 610193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140723-1 dsg2.2 1829 DSG2 dilated cardiomyopathy 1BB DOID:0110458 Cardiomyopathy, dilated, 1BB 612877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP Epidermolysis bullosa, lethal acantholytic 609638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP Keratosis palmoplantaris striata II 612908 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP Skin fragility-woolly hair syndrome 607655 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP arrhythmogenic right ventricular dysplasia 8 DOID:0110076 Arrhythmogenic right ventricular dysplasia 8 607450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2743 dspa 1832 DSP Carvajal syndrome DOID:0090128 Cardiomyopathy, dilated, with woolly hair and keratoderma 605676 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP Epidermolysis bullosa, lethal acantholytic 609638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP Keratosis palmoplantaris striata II 612908 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP Skin fragility-woolly hair syndrome 607655 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP arrhythmogenic right ventricular dysplasia 8 DOID:0110076 Arrhythmogenic right ventricular dysplasia 8 607450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1662 dspb 1832 DSP Carvajal syndrome DOID:0090128 Cardiomyopathy, dilated, with woolly hair and keratoderma 605676 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3399 dst 667 DST epidermolysis bullosa simplex DOID:4644 Epidermolysis bullosa simplex, autosomal recessive 2 615425 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3399 dst 667 DST hereditary sensory and autonomic neuropathy type 6 DOID:0070151 ?Neuropathy, hereditary sensory and autonomic, type VI 614653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040826-2 dstyk 25778 DSTYK CAKUT1 DOID:0080206 Congenital anomalies of kidney and urinary tract 1 610805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040826-2 dstyk 25778 DSTYK hereditary spastic paraplegia 23 DOID:0110774 Spastic paraplegia 23 270750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2 dtna 1837 DTNA left ventricular noncompaction DOID:0060480 Left ventricular noncompaction 1, with or without congenital heart defects 604169 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1036 dtnbp1a 84062 DTNBP1 Hermansky-Pudlak syndrome 7 DOID:0060545 Hermansky-Pudlak syndrome 7 614076 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-889 dtnbp1b 84062 DTNBP1 Hermansky-Pudlak syndrome 7 DOID:0060545 Hermansky-Pudlak syndrome 7 614076 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-14 duox 53905 DUOX1 Thyroid dyshormonogenesis 6 607200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-14 duox 50506 DUOX2 Thyroid dyshormonogenesis 6 607200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111007-1 duox2 90527 DUOXA1 Thyroid dyshormonogenesis 5 274900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111007-1 duox2 405753 DUOXA2 Thyroid dyshormonogenesis 5 274900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030613-1 dusp6 1848 DUSP6 hypogonadotropic hypogonadism 19 with or without anosmia DOID:0090090 Hypogonadotropic hypogonadism 19 with or without anosmia 615269 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-40 dvl1a 1855 DVL1 autosomal dominant Robinow syndrome 2 DOID:0060765 Robinow syndrome, autosomal dominant 2 616331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-1 dvl1b 1855 DVL1 autosomal dominant Robinow syndrome 2 DOID:0060765 Robinow syndrome, autosomal dominant 2 616331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010319-1 dvl3a 1857 DVL3 autosomal dominant Robinow syndrome 3 DOID:0060767 Robinow syndrome, autosomal dominant 3 616894 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121101-2 dvl3b 1857 DVL3 autosomal dominant Robinow syndrome 3 DOID:0060767 Robinow syndrome, autosomal dominant 3 616894 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-348 dym 54808 DYM Dyggve-Melchior-Clausen disease DOID:0111167 Dyggve-Melchior-Clausen disease 223800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-348 dym 54808 DYM Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia 607326 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7050 dync1h1 1778 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, AD 158600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7050 dync1h1 1778 DYNC1H1 autosomal dominant non-syndromic intellectual disability 13 DOID:0070043 Mental retardation, autosomal dominant 13 614563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7050 dync1h1 1778 DYNC1H1 Charcot-Marie-Tooth disease axonal type 2O DOID:0110175 Charcot-Marie-Tooth disease, axonal, type 20 614228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1086 dync1i2a 1781 DYNC1I2 Neurodevelopmental disorder with microcephaly and structural brain anomalies 618492 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090121-1 dync1i2b 1781 DYNC1I2 Neurodevelopmental disorder with microcephaly and structural brain anomalies 618492 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100217-1 dync2h1 79659 DYNC2H1 asphyxiating thoracic dystrophy 3 DOID:0110087 Short-rib thoracic dysplasia 3 with or without polydactyly 613091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1230 dync2li1 51626 DYNC2LI1 Short-rib thoracic dysplasia 15 with polydactyly 617088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-29 dyrk1aa 1859 DYRK1A autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 Mental retardation, autosomal dominant 7 614104 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-499 dyrk1b 9149 DYRK1B abdominal obesity-metabolic syndrome 3 DOID:0060612 Abdominal obesity-metabolic syndrome 3 615812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-1 dysf 8291 DYSF autosomal recessive limb-girdle muscular dystrophy type 2B DOID:0110276 Muscular dystrophy, limb-girdle, autosomal recessive 2 253601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-1 dysf 8291 DYSF distal muscular dystrophy with anterior tibial onset DOID:0111187 Myopathy, distal, with anterior tibial onset 606768 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-1 dysf 8291 DYSF Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 254130 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-196 dzip1l 199221 DZIP1L polycystic kidney disease 5 DOID:0080273 Polycystic kidney disease 5 617610 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-292 ebf3a 253738 EBF3 Hypotonia, ataxia, and delayed development syndrome 617330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131126-3 ebf3b 253738 EBF3 Hypotonia, ataxia, and delayed development syndrome 617330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-12 ebp 10682 EBP MEND syndrome 300960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-12 ebp 10682 EBP X-linked chondrodysplasia punctata 2 DOID:0080352 Chondrodysplasia punctata, X-linked dominant 302960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-100 ece1 1889 ECE1 ?Hirschsprung disease, cardiac defects, and autonomic dysfunction 613870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-100 ece1 1889 ECE1 essential hypertension DOID:10825 {Hypertension, essential, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-692 ecel1 9427 ECEL1 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 5D 615065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-617 echs1 1892 ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121204-1 ecm1a 1893 ECM1 lipoid proteinosis DOID:14498 Urbach-Wiethe disease 247100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121204-2 ecm1b 1893 ECM1 lipoid proteinosis DOID:14498 Urbach-Wiethe disease 247100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-6 eda 1896 EDA hypohidrotic ectodermal dysplasia DOID:14793 Ectodermal dysplasia 1, hypohidrotic, X-linked 305100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-6 eda 1896 EDA tooth agenesis DOID:0050591 Tooth agenesis, selective, X-linked 1 313500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2062 edar 10913 EDAR [Hair morphology 1, hair thickness] 612630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2062 edar 10913 EDAR hypohidrotic ectodermal dysplasia DOID:14793 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 129490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2062 edar 10913 EDAR hypohidrotic ectodermal dysplasia DOID:14793 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 224900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-5 edaradd 128178 EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 614940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-5 edaradd 128178 EDARADD Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 614941 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-287 edc3 80153 EDC3 ?Mental retardation, autosomal recessive 50 616460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000920-1 edn1 1906 EDN1 Auriculocondylar syndrome 3 615706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000920-1 edn1 1906 EDN1 {High density lipoprotein cholesterol level QTL 7} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000920-1 edn1 1906 EDN1 Question mark ears, isolated 612798 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110621-4 edn3a 1908 EDN3 {Hirschsprung disease, susceptibility to, 4} 613712 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110621-4 edn3a 1908 EDN3 congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110621-4 edn3a 1908 EDN3 Waardenburg syndrome type 4B DOID:0110954 Waardenburg syndrome, type 4B 613265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-235 edn3b 1908 EDN3 {Hirschsprung disease, susceptibility to, 4} 613712 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-235 edn3b 1908 EDN3 congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-235 edn3b 1908 EDN3 Waardenburg syndrome type 4B DOID:0110954 Waardenburg syndrome, type 4B 613265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010906-2 ednraa 1909 EDNRA mandibulofacial dysostosis with alopecia DOID:0060365 Mandibulofacial dysostosis with alopecia 616367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010906-2 ednraa 1909 EDNRA migraine DOID:6364 {Migraine, resistance to} 157300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2364 ednrab 1909 EDNRA mandibulofacial dysostosis with alopecia DOID:0060365 Mandibulofacial dysostosis with alopecia 616367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2364 ednrab 1909 EDNRA migraine DOID:6364 {Migraine, resistance to} 157300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-16 ednrba 1910 EDNRB {Hirschsprung disease, susceptibility to, 2} 600155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-16 ednrba 1910 EDNRB ABCD syndrome DOID:0050600 ABCD syndrome 600501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-16 ednrba 1910 EDNRB Waardenburg syndrome type 4A DOID:0110953 Waardenburg syndrome, type 4A 277580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-182 ednrbb 1910 EDNRB {Hirschsprung disease, susceptibility to, 2} 600155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-182 ednrbb 1910 EDNRB ABCD syndrome DOID:0050600 ABCD syndrome 600501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-182 ednrbb 1910 EDNRB Waardenburg syndrome type 4A DOID:0110953 Waardenburg syndrome, type 4A 277580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-287 eed 8726 EED Cohen-Gibson syndrome 617561 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-64 eef1a2 1917 EEF1A2 autosomal dominant non-syndromic intellectual disability 38 DOID:0070068 Mental retardation, autosomal dominant 38 616393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-64 eef1a2 1917 EEF1A2 early infantile epileptic encephalopathy 33 DOID:0080463 Epileptic encephalopathy, early infantile, 33 616409 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-500 eef2a.1 1938 EEF2 spinocerebellar ataxia type 26 DOID:0050975 ?Spinocerebellar ataxia 26 609306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-348 eef2a.2 1938 EEF2 spinocerebellar ataxia type 26 DOID:0050975 ?Spinocerebellar ataxia 26 609306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5128 eef2b 1938 EEF2 spinocerebellar ataxia type 26 DOID:0050975 ?Spinocerebellar ataxia 26 609306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130403-1 efemp1 2202 EFEMP1 Doyne honeycomb retinal dystrophy DOID:0060745 Doyne honeycomb degeneration of retina 126600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-8 efemp2a 30008 EFEMP2 autosomal recessive cutis laxa type IB DOID:0070133 Cutis laxa, autosomal recessive, type IB 614437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-125 efemp2b 30008 EFEMP2 autosomal recessive cutis laxa type IB DOID:0070133 Cutis laxa, autosomal recessive, type IB 614437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1300 efhc1 114327 EFHC1 juvenile absence epilepsy 1 DOID:0111324 {Epilepsy, juvenile absence, susceptibility to, 1} 607631 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1300 efhc1 114327 EFHC1 juvenile myoclonic epilepsy DOID:4890 {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130103-6 efl1 79631 EFL1 Shwachman-Diamond syndrome 2 617941 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010618-2 efnb1 1947 EFNB1 craniofrontonasal syndrome DOID:14737 Craniofrontonasal dysplasia 304110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1569 eftud2 9343 EFTUD2 mandibulofacial dysostosis, Guion-Almeida type DOID:0080196 Mandibulofacial dysostosis, Guion-Almeida type 610536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070922-1 egf 1950 EGF renal hypomagnesemia 4 DOID:0060882 Hypomagnesemia 4, renal 611718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-1 egfra 1956 EGFR ?Inflammatory skin and bowel disease, neonatal, 2 616069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-1 egfra 1956 EGFR lung cancer DOID:1324 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-1 egfra 1956 EGFR lung cancer DOID:1324 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-1 egfra 1956 EGFR lung cancer DOID:1324 {Nonsmall cell lung cancer, susceptibility to} 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100308-1 egfrb 1956 EGFR ?Inflammatory skin and bowel disease, neonatal, 2 616069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100308-1 egfrb 1956 EGFR lung cancer DOID:1324 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100308-1 egfrb 1956 EGFR lung cancer DOID:1324 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100308-1 egfrb 1956 EGFR lung cancer DOID:1324 {Nonsmall cell lung cancer, susceptibility to} 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-34 egln1a 54583 EGLN1 [Hemoglobin, high altitude adaptation] 609070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-34 egln1a 54583 EGLN1 familial erythrocytosis 3 DOID:0080338 Erythrocytosis, familial, 3 609820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-338 egln1b 54583 EGLN1 [Hemoglobin, high altitude adaptation] 609070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-338 egln1b 54583 EGLN1 familial erythrocytosis 3 DOID:0080338 Erythrocytosis, familial, 3 609820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-6 egr2a 1959 EGR2 Charcot-Marie-Tooth disease type 1D DOID:0110150 Charcot-Marie-Tooth disease, type 1D 607678 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-6 egr2a 1959 EGR2 Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-6 egr2a 1959 EGR2 Charcot-Marie-Tooth disease type 4E DOID:0110195 Hypomyelinating neuropathy, congenital, 1 605253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-283 egr2b 1959 EGR2 Charcot-Marie-Tooth disease type 1D DOID:0110150 Charcot-Marie-Tooth disease, type 1D 607678 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-283 egr2b 1959 EGR2 Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-283 egr2b 1959 EGR2 Charcot-Marie-Tooth disease type 4E DOID:0110195 Hypomyelinating neuropathy, congenital, 1 605253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091006-4 ehbp1 23301 EHBP1 prostate cancer DOID:10283 {Prostate cancer, hereditary, 12} 611868 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2581 ehhadh 1962 EHHADH Fanconi syndrome DOID:1062 ?Fanconi renotubular syndrome 3 615605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-44 ehmt1a 79813 EHMT1 Kleefstra syndrome DOID:0060352 Kleefstra syndrome 1 610253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080515-3 ehmt1b 79813 EHMT1 Kleefstra syndrome DOID:0060352 Kleefstra syndrome 1 610253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050414-2 eif2ak3 9451 EIF2AK3 Wolcott-Rallison syndrome DOID:0090060 Wolcott-Rallison syndrome 226980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090302-1 eif2ak4 440275 EIF2AK4 Pulmonary venoocclusive disease 2 234810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-25 eif2b1 1967 EIF2B1 leukoencephalopathy with vanishing white matter DOID:0060868 Leukoencephalopathy with vanishing white matter 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2605 eif2b2 8892 EIF2B2 leukoencephalopathy with vanishing white matter DOID:0060868 Leukoencephalopathy with vanishing white matter 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2605 eif2b2 8892 EIF2B2 leukoencephalopathy with vanishing white matter DOID:0060868 Ovarioleukodystrophy 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1039 eif2b3 8891 EIF2B3 leukoencephalopathy with vanishing white matter DOID:0060868 Leukoencephalopathy with vanishing white matter 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-955 eif2b4 8890 EIF2B4 leukoencephalopathy with vanishing white matter DOID:0060868 Leukoencephalopathy with vanishing white matter 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-955 eif2b4 8890 EIF2B4 leukoencephalopathy with vanishing white matter DOID:0060868 Ovarioleukodystrophy 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5364 eif2b5 8893 EIF2B5 leukoencephalopathy with vanishing white matter DOID:0060868 Leukoencephalopathy with vanishing white matter 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5364 eif2b5 8893 EIF2B5 leukoencephalopathy with vanishing white matter DOID:0060868 Ovarioleukodystrophy 603896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5552 eif2s3 1968 EIF2S3 MEHMO syndrome DOID:0060801 MEHMO syndrome 300148 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100215-2 eif3f 8665 EIF3F Mental retardation, autosomal recessive 67 618295 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-915 eif4a3 9775 EIF4A3 Robin sequence with cleft mandible and limb anomalies 268305 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040413-1 eif4ea 1977 EIF4E {Autism, susceptibility to, 19} 615091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041121-14 eif4eb 1977 EIF4E {Autism, susceptibility to, 19} 615091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-702 eif4g1a 1981 EIF4G1 {Parkinson disease 18} 614251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140605-1 eif4g1b 1981 EIF4G1 {Parkinson disease 18} 614251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-227 elac2 60528 ELAC2 {Prostate cancer, hereditary, 2, susceptibility to} 614731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-227 elac2 60528 ELAC2 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 17 615440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-84 elmo2 63916 ELMO2 Vascular malformation, primary intraosseous 606893 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-471 elmod3 84173 ELMOD3 autosomal recessive nonsyndromic deafness 88 DOID:0110533 ?Deafness, autosomal recessive 88 615429 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061212-1 elna 2006 ELN autosomal dominant cutis laxa 1 DOID:0070130 Cutis laxa, autosomal dominant 123700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061212-1 elna 2006 ELN supravalvular aortic stenosis DOID:1929 Supravalvar aortic stenosis 185500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061212-2 elnb 2006 ELN autosomal dominant cutis laxa 1 DOID:0070130 Cutis laxa, autosomal dominant 123700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061212-2 elnb 2006 ELN supravalvular aortic stenosis DOID:1929 Supravalvar aortic stenosis 185500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-66 elovl1a 64834 ELOVL1 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies 618527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2755 elovl1b 64834 ELOVL1 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies 618527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1767 elovl4a 6785 ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation 614457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1767 elovl4a 6785 ELOVL4 spinocerebellar ataxia type 34 DOID:0050981 Spinocerebellar ataxia 34 133190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1767 elovl4a 6785 ELOVL4 Stargardt disease DOID:0050817 Stargardt disease 3 600110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7672 elovl4b 6785 ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation 614457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7672 elovl4b 6785 ELOVL4 spinocerebellar ataxia type 34 DOID:0050981 Spinocerebellar ataxia 34 133190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7672 elovl4b 6785 ELOVL4 Stargardt disease DOID:0050817 Stargardt disease 3 600110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040407-2 elovl5 60481 ELOVL5 spinocerebellar ataxia type 38 DOID:0050985 Spinocerebellar ataxia 38 615957 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071116-7 elp1 8518 ELP1 Riley-Day syndrome DOID:11589 Dysautonomia, familial 223900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-525 elp2 55250 ELP2 Mental retardation, autosomal recessive 58 617270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-114 elp4 26610 ELP4 ?Aniridia 2 617141 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-98 emc1 23065 EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation 616875 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-2 emd 2010 EMD X-linked Emery-Dreifuss muscular dystrophy 1 DOID:0070246 Emery-Dreifuss muscular dystrophy 1, X-linked 310300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-2909 emg1 10436 EMG1 Bowen-Conradi syndrome DOID:0050684 Bowen-Conradi syndrome 211180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-156 eml1 2009 EML1 subcortical band heterotopia DOID:0111169 Band heterotopia 600348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-24 emp2 2013 EMP2 nephrotic syndrome type 10 DOID:0080386 Nephrotic syndrome, type 10 615861 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-54 emx2 2018 EMX2 Schizencephaly 269160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170530-1 eng 2022 ENG hereditary hemorrhagic telangiectasia DOID:1270 Telangiectasia, hereditary hemorrhagic, type 1 187300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6048 eno1a 2023 ENO1 Enolase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1651 eno1b 2023 ENO1 Enolase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-5 eno3 2027 ENO3 ?Glycogen storage disease XIII 612932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-172 enpp1 5167 ENPP1 Cole disease 615522 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-172 enpp1 5167 ENPP1 arterial calcification of infancy DOID:0050644 Arterial calcification, generalized, of infancy, 1 208000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-172 enpp1 5167 ENPP1 autosomal recessive hypophosphatemic rickets DOID:0050949 Hypophosphatemic rickets, autosomal recessive, 2 613312 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-172 enpp1 5167 ENPP1 obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-172 enpp1 5167 ENPP1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, non-insulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-58 entpd1 953 ENTPD1 hereditary spastic paraplegia 64 DOID:0110815 Spastic paraplegia 64, autosomal recessive 615683 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120813-8 eogt 285203 EOGT Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 4 615297 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-16 ep300a 2033 EP300 Menke-Hennekam syndrome 2 618333 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-16 ep300a 2033 EP300 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-16 ep300a 2033 EP300 Rubinstein-Taybi syndrome DOID:1933 Rubinstein-Taybi syndrome 2 613684 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-15 ep300b 2033 EP300 Menke-Hennekam syndrome 2 618333 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-15 ep300b 2033 EP300 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-15 ep300b 2033 EP300 Rubinstein-Taybi syndrome DOID:1933 Rubinstein-Taybi syndrome 2 613684 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4490 epas1a 2034 EPAS1 familial erythrocytosis 4 DOID:0080339 Erythrocytosis, familial, 4 611783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060607-11 epas1b 2034 EPAS1 familial erythrocytosis 4 DOID:0080339 Erythrocytosis, familial, 4 611783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-81 epb41a 2035 EPB41 hereditary elliptocytosis DOID:2373 Elliptocytosis-1 611804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030130-1 epb41b 2035 EPB41 hereditary elliptocytosis DOID:2373 Elliptocytosis-1 611804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2209 epcam 4072 EPCAM congenital diarrhea 5 with tufting enteropathy DOID:0060776 Diarrhea 5, with tufting enteropathy, congenital 613217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2209 epcam 4072 EPCAM hereditary nonpolyposis colorectal cancer type 8 DOID:0070270 Colorectal cancer, hereditary nonpolyposis, type 8 613244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-307 epg5 57724 EPG5 Vici syndrome DOID:0060356 Vici syndrome 242840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-63 epha2a 1969 EPHA2 cataract 6 multiple types DOID:0110229 Cataract 6, multiple types 116600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-187 epha2b 1969 EPHA2 cataract 6 multiple types DOID:0110229 Cataract 6, multiple types 116600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-2 ephb2a 2048 EPHB2 ?Bleeding disorder, platelet-type, 22 618462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-2 ephb2a 2048 EPHB2 {Prostate cancer/brain cancer susceptibility, somatic} 603688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-415 ephb2b 2048 EPHB2 ?Bleeding disorder, platelet-type, 22 618462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-415 ephb2b 2048 EPHB2 {Prostate cancer/brain cancer susceptibility, somatic} 603688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-62 ephb4a 2050 EPHB4 Capillary malformation-arteriovenous malformation 2 618196 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-62 ephb4a 2050 EPHB4 Lymphatic malformation 7 617300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-65 ephb4b 2050 EPHB4 Capillary malformation-arteriovenous malformation 2 618196 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-65 ephb4b 2050 EPHB4 Lymphatic malformation 7 617300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-913 ephx1 2052 EPHX1 ?Hypercholanemia, familial 607748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-70 ephx2 2053 EPHX2 familial hypercholesterolemia DOID:13810 {Hypercholesterolemia, familial, due to LDLR defect, modifier of} 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-143 epm2a 7957 EPM2A Lafora disease DOID:3534 Epilepsy, progressive myoclonic 2A (Lafora) 254780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061218-3 epoa 2056 EPO ?Diamond-Blackfan anemia-like 617911 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061218-3 epoa 2056 EPO {Microvascular complications of diabetes 2} 612623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061218-3 epoa 2056 EPO familial erythrocytosis 5 DOID:0080290 Erythrocytosis, familial, 5 617907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-428 epob 2056 EPO ?Diamond-Blackfan anemia-like 617911 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-428 epob 2056 EPO {Microvascular complications of diabetes 2} 612623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-428 epob 2056 EPO familial erythrocytosis 5 DOID:0080290 Erythrocytosis, familial, 5 617907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071116-1 epor 2057 EPOR familial erythrocytosis 1 DOID:0060652 [Erythrocytosis, familial, 1] 133100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-638 eprs1 2058 EPRS1 Leukodystrophy, hypomyelinating, 15 617951 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-871 eps8a 2059 EPS8 autosomal recessive nonsyndromic deafness 102 DOID:0110463 ?Deafness, autosomal recessive 102 615974 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-340 eps8l2 64787 EPS8L2 autosomal recessive nonsyndromic deafness 106 DOID:0080261 Deafness autosomal recessive 106 617637 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-84 eral1 26284 ERAL1 Perrault syndrome 6 DOID:0080256 Perrault syndrome 6 617565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-121 erbb2 2064 ERBB2 Glioblastoma, somatic 137800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-121 erbb2 2064 ERBB2 Ovarian cancer, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-121 erbb2 2064 ERBB2 lung cancer DOID:1324 Adenocarcinoma of lung, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-121 erbb2 2064 ERBB2 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030916-3 erbb3a 2065 ERBB3 {?Erythroleukemia, familial, susceptibility to} 133180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030916-3 erbb3a 2065 ERBB3 lethal congenital contracture syndrome 2 DOID:0060560 ?Lethal congenital contractural syndrome 2 607598 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-1 erbb3b 2065 ERBB3 {?Erythroleukemia, familial, susceptibility to} 133180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-1 erbb3b 2065 ERBB3 lethal congenital contracture syndrome 2 DOID:0060560 ?Lethal congenital contractural syndrome 2 607598 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-4 erbb4a 2066 ERBB4 amyotrophic lateral sclerosis type 19 DOID:0060210 Amyotrophic lateral sclerosis 19 615515 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030918-5 erbb4b 2066 ERBB4 amyotrophic lateral sclerosis type 19 DOID:0060210 Amyotrophic lateral sclerosis 19 615515 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2606 ercc1 2067 ERCC1 Cerebrooculofacioskeletal syndrome 4 610758 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-997 ercc2 2068 ERCC2 ?Cerebrooculofacioskeletal syndrome 2 610756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-997 ercc2 2068 ERCC2 photosensitive trichothiodystrophy DOID:2960 Trichothiodystrophy 1, photosensitive 601675 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-997 ercc2 2068 ERCC2 xeroderma pigmentosum group D DOID:0110845 Xeroderma pigmentosum, group D 278730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3043 ercc3 2071 ERCC3 Trichothiodystrophy 2, photosensitive 616390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3043 ercc3 2071 ERCC3 xeroderma pigmentosum group B DOID:0110850 Xeroderma pigmentosum, group B 610651 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5533 ercc4 2072 ERCC4 Fanconi anemia complementation group Q DOID:0111093 Fanconi anemia, complementation group Q 615272 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5533 ercc4 2072 ERCC4 xeroderma pigmentosum group F DOID:0110848 Xeroderma pigmentosum, group F 278760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5533 ercc4 2072 ERCC4 xeroderma pigmentosum group F DOID:0110848 Xeroderma pigmentosum, type F/Cockayne syndrome 278760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5533 ercc4 2072 ERCC4 XFE progeroid syndrome DOID:0060590 XFE progeroid syndrome 610965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-28 ercc5 2073 ERCC5 Cerebrooculofacioskeletal syndrome 3 616570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-28 ercc5 2073 ERCC5 xeroderma pigmentosum group G DOID:0110849 Xeroderma pigmentosum, group G 278780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-28 ercc5 2073 ERCC5 xeroderma pigmentosum group G DOID:0110849 Xeroderma pigmentosum, group G/Cockayne syndrome 278780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 Cerebrooculofacioskeletal syndrome 1 214150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 De Sanctis-Cacchione syndrome 278800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 Premature ovarian failure 11 616946 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 age related macular degeneration 5 DOID:0110028 {Macular degeneration, age-related, susceptibility to, 5} 613761 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 Cockayne syndrome DOID:2962 Cockayne syndrome, type B 133540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 lung cancer DOID:1324 {Lung cancer, susceptibility to} 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070228-1 ercc6 2074 ERCC6 UV-sensitive syndrome DOID:0060240 UV-sensitive syndrome 1 600630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-274 ercc6l2 375748 ERCC6L2 Bone marrow failure syndrome 2 615715 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-60 ercc8 1161 ERCC8 Cockayne syndrome DOID:2962 Cockayne syndrome, type A 216400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-60 ercc8 1161 ERCC8 UV-sensitive syndrome DOID:0060240 UV-sensitive syndrome 2 614621 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-17 erf 2077 ERF Chitayat syndrome 617180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-17 erf 2077 ERF craniosynostosis DOID:2340 Craniosynostosis 4 600775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-75 ergic1 57222 ERGIC1 neurogenic arthrogryposis multiplex congenita DOID:0090124 ?Arthrogryposis multiplex congenita, neurogenic type 208100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-13 erlin1 10613 ERLIN1 hereditary spastic paraplegia 62 DOID:0110813 Spastic paraplegia 62 615681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090505-4 erlin2 11160 ERLIN2 hereditary spastic paraplegia 18 DOID:0110771 Spastic paraplegia 18, autosomal recessive 611225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-156 esco2 157570 ESCO2 Roberts syndrome DOID:5325 Roberts syndrome 268300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-156 esco2 157570 ESCO2 SC phocomelia syndrome DOID:0050536 SC phocomelia syndrome 269000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-173 espn 83715 ESPN autosomal recessive nonsyndromic deafness 36 DOID:0110494 Deafness, autosomal recessive 36 609006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-173 espn 83715 ESPN autosomal recessive nonsyndromic deafness 36 DOID:0110494 Deafness, neurosensory, without vestibular involvement, autosomal dominant 609006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 {Atherosclerosis, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 Estrogen resistance 615363 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 {HDL response to hormone replacement, augmented} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020806-5 esr1 2099 ESR1 migraine DOID:6364 {Migraine, susceptibility to} 157300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030116-2 esr2a 2100 ESR2 ovarian dysgenesis 8 DOID:0080500 ?Ovarian dysgenesis 8 618187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030116-1 esr2b 2100 ESR2 ovarian dysgenesis 8 DOID:0080500 ?Ovarian dysgenesis 8 618187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1732 esrp1 54845 ESRP1 ?Deafness, autosomal recessive 109 618013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040616-2 esrrb 2103 ESRRB autosomal recessive nonsyndromic deafness 35 DOID:0110493 Deafness, autosomal recessive 35 608565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4449 etfa 2108 ETFA multiple acyl-CoA dehydrogenase deficiency DOID:0060358 Glutaric acidemia IIA 231680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1931 etfb 2109 ETFB multiple acyl-CoA dehydrogenase deficiency DOID:0060358 Glutaric acidemia IIB 231680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-168 etfdh 2110 ETFDH multiple acyl-CoA dehydrogenase deficiency DOID:0060358 Glutaric acidemia IIC 231680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2503 ethe1 23474 ETHE1 ethylmalonic encephalopathy DOID:0060640 Ethylmalonic encephalopathy 602473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010727-1 etv6 2120 ETV6 Thrombocytopenia 5 616216 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010727-1 etv6 2120 ETV6 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2317 ewsr1a 2130 EWSR1 Ewing sarcoma DOID:3369 Ewing sarcoma 612219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2317 ewsr1a 2130 EWSR1 Ewing sarcoma DOID:3369 Neuroepithelioma 612219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1600 ewsr1b 2130 EWSR1 Ewing sarcoma DOID:3369 Ewing sarcoma 612219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1600 ewsr1b 2130 EWSR1 Ewing sarcoma DOID:3369 Neuroepithelioma 612219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-132 exoc6b 23233 EXOC6B Spondyloepimetaphyseal dysplasia with joint laxity, type 3 618395 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-27 exosc2 23404 EXOSC2 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 617763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-140 exosc3 51010 EXOSC3 pontocerebellar hypoplasia type 1B DOID:0060266 Pontocerebellar hypoplasia, type 1B 614678 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1736 exosc8 11340 EXOSC8 Pontocerebellar hypoplasia, type 1C 616081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-180 exosc9 5393 EXOSC9 Pontocerebellar hypoplasia, type 1D 618065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-3 ext1a 2131 EXT1 chondrosarcoma DOID:3371 Chondrosarcoma 215300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-3 ext1a 2131 EXT1 hereditary multiple exostoses DOID:206 Exostoses, multiple, type 1 133700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-4 ext1b 2131 EXT1 chondrosarcoma DOID:3371 Chondrosarcoma 215300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-4 ext1b 2131 EXT1 hereditary multiple exostoses DOID:206 Exostoses, multiple, type 1 133700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041124-3 ext2 2132 EXT2 Seizures, scoliosis, and macrocephaly syndrome 616682 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041124-3 ext2 2132 EXT2 hereditary multiple exostoses DOID:206 Exostoses, multiple, type 2 133701 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041124-2 extl3 2137 EXTL3 Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990712-18 eya1 2138 EYA1 ?Otofaciocervical syndrome 166780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990712-18 eya1 2138 EYA1 branchiootic syndrome DOID:0060232 Anterior segment anomalies with or without cataract 602588 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990712-18 eya1 2138 EYA1 branchiootic syndrome DOID:0060232 Branchiootic syndrome 1 602588 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990712-18 eya1 2138 EYA1 branchiootorenal syndrome DOID:14702 Branchiootorenal syndrome 1, with or without cataracts 113650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-93 eya4 2070 EYA4 autosomal dominant nonsyndromic deafness 10 DOID:0110542 Deafness, autosomal dominant 10 601316 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-93 eya4 2070 EYA4 dilated cardiomyopathy 1J DOID:0110440 ?Cardiomyopathy, dilated, 1J 605362 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-959 eys 346007 EYS retinitis pigmentosa 25 DOID:0110384 Retinitis pigmentosa 25 602772 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-259 ezh2 2146 EZH2 Weaver syndrome DOID:14731 Weaver syndrome 277590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-9 f10 2159 F10 Factor X deficiency 227600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1250 f13a1a.1 2162 F13A1 {Myocardial infarction, protection against} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1250 f13a1a.1 2162 F13A1 factor XIII deficiency DOID:2211 Factor XIIIA deficiency 613225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1250 f13a1a.1 2162 F13A1 thrombophilia DOID:2452 {Venous thrombosis, protection against} 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120307-1 f13a1a.2 2162 F13A1 {Myocardial infarction, protection against} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120307-1 f13a1a.2 2162 F13A1 factor XIII deficiency DOID:2211 Factor XIIIA deficiency 613225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120307-1 f13a1a.2 2162 F13A1 thrombophilia DOID:2452 {Venous thrombosis, protection against} 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9634 f13a1b 2162 F13A1 {Myocardial infarction, protection against} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9634 f13a1b 2162 F13A1 factor XIII deficiency DOID:2211 Factor XIIIA deficiency 613225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9634 f13a1b 2162 F13A1 thrombophilia DOID:2452 {Venous thrombosis, protection against} 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-701 f13b 2165 F13B factor XIII deficiency DOID:2211 Factor XIIIB deficiency 613235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4606 f2 2147 F2 {Pregnancy loss, recurrent, susceptibility to, 2} 614390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4606 f2 2147 F2 cerebral infarction DOID:3526 {Stroke, ischemic, susceptibility to} 601367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4606 f2 2147 F2 prothrombin deficiency DOID:2235 Dysprothrombinemia 613679 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4606 f2 2147 F2 prothrombin deficiency DOID:2235 Hypoprothrombinemia 613679 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4606 f2 2147 F2 thrombophilia DOID:2452 Thrombophilia due to thrombin defect 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 {Pregnancy loss, recurrent, susceptibility to, 1} 614389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 Thrombophilia due to activated protein C resistance 188055 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 {Thrombophilia, susceptibility to, due to factor V Leiden} 188055 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 Budd-Chiari syndrome DOID:11512 {Budd-Chiari syndrome} 600880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 cerebral infarction DOID:3526 {Stroke, ischemic, susceptibility to} 601367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5531 f5 2153 F5 factor V deficiency DOID:2216 Factor V deficiency 227400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010814-1 f7 2155 F7 Factor VII deficiency 227500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010814-1 f7 2155 F7 {Myocardial infarction, decreased susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090629-2 f8 2157 F8 Hemophilia A 306700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030714-2 f9a 2158 F9 {Deep venous thrombosis, protection against} 300807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030714-2 f9a 2158 F9 Thrombophilia, X-linked, due to factor IX defect 300807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030714-2 f9a 2158 F9 {Warfarin sensitivity} 122700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030714-2 f9a 2158 F9 hemophilia B DOID:12259 Hemophilia B 306900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7346 f9b 2158 F9 {Deep venous thrombosis, protection against} 300807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7346 f9b 2158 F9 Thrombophilia, X-linked, due to factor IX defect 300807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7346 f9b 2158 F9 {Warfarin sensitivity} 122700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7346 f9b 2158 F9 hemophilia B DOID:12259 Hemophilia B 306900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-4 fa2h 79152 FA2H hereditary spastic paraplegia 35 DOID:0110786 Spastic paraplegia 35, autosomal recessive 612319 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070619-3 faah 2166 FAAH {Drug addiction, susceptibility to} 606581 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070606-3 fadd 8772 FADD Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 613759 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1091 fah 2184 FAH tyrosinemia type I DOID:0050726 Tyrosinemia, type I 276700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-716 fam111b 374393 FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1806 fam126a 84668 FAM126A hypomyelinating leukodystrophy 5 DOID:0060793 Leukodystrophy, hypomyelinating, 5 610532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110310-1 fam161a 84140 FAM161A retinitis pigmentosa 28 DOID:0110365 Retinitis pigmentosa 28 606068 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-117 fam20a 54757 FAM20A amelogenesis imperfecta type 1G DOID:0110066 Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-750 fam20ca 56975 FAM20C Raine syndrome 259775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050301-4 fam20cb 56975 FAM20C Raine syndrome 259775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-104 fam83ha 286077 FAM83H amelogenesis imperfecta type 3A DOID:0110055 Amelogenesis imperfecta, type IIIA 130900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6729 fam83hb 286077 FAM83H amelogenesis imperfecta type 3A DOID:0110055 Amelogenesis imperfecta, type IIIA 130900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-123 fam92a1 137392 FAM92A ?Polydactyly, postaxial, type A9 618219 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6225 fan1 22909 FAN1 karyomegalic interstitial nephritis DOID:0060911 Interstitial nephritis, karyomegalic 614817 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060508-1 fanca 2175 FANCA Fanconi anemia complementation group A DOID:0111095 Fanconi anemia, complementation group A 227650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-1 fancb 2187 FANCB Fanconi anemia complementation group B DOID:0111098 Fanconi anemia, complementation group B 300514 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-2 fancc 2176 FANCC Fanconi anemia complementation group C DOID:0111087 Fanconi anemia, complementation group C 227645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-5 fancd2 2177 FANCD2 Fanconi anemia complementation group D2 DOID:0111083 Fanconi anemia, complementation group D2 227646 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060510-5 fance 2178 FANCE Fanconi anemia complementation group E DOID:0111084 Fanconi anemia, complementation group E 600901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060306-3 fancf 2188 FANCF Fanconi anemia complementation group F DOID:0111088 Fanconi anemia, complementation group F 603467 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-103 fancg 2189 FANCG Fanconi anemia complementation group G DOID:0111086 Fanconi anemia, complementation group G 614082 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2905 fanci 55215 FANCI Fanconi anemia complementation group I DOID:0111091 Fanconi anemia, complementation group I 609053 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1045 fancl 55120 FANCL Fanconi anemia complementation group L DOID:0111082 Fanconi anemia, complementation group L 614083 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090929-1 fancm 57697 FANCM ?Premature ovarian failure 15 618096 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090929-1 fancm 57697 FANCM Spermatogenic failure 28 618086 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2908 far1 84188 FAR1 Peroxisomal fatty acyl-CoA reductase 1 disorder 616154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-38 fars2 10667 FARS2 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 14 614946 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-38 fars2 10667 FARS2 hereditary spastic paraplegia 77 DOID:0110822 Spastic paraplegia 77, autosomal recessive 617046 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-2 farsb 10056 FARSB Rajab interstitial lung disease with brain calcifications 613658 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-2 fas 355 FAS Squamous cell carcinoma, burn scar-related, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-2 fas 355 FAS autoimmune lymphoproliferative syndrome DOID:6688 {Autoimmune lymphoproliferative syndrome} 601859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-2 fas 355 FAS autoimmune lymphoproliferative syndrome DOID:6688 Autoimmune lymphoproliferative syndrome, type IA 601859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-16 faslg 356 FASLG autoimmune lymphoproliferative syndrome DOID:6688 Autoimmune lymphoproliferative syndrome, type IB 601859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-16 faslg 356 FASLG lung cancer DOID:1324 {Lung cancer, susceptibility to} 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-7 fastkd2 22868 FASTKD2 cytochrome-c oxidase deficiency disease DOID:3762 ?Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111031-1 fat2 2196 FAT2 spinocerebellar ataxia 45 DOID:0080287 Spinocerebellar ataxia 45 617769 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090609-4 fat4 79633 FAT4 Hennekam syndrome DOID:0060366 Hennekam lymphangiectasia-lymphedema syndrome 2 616006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090609-4 fat4 79633 FAT4 Van Maldergem syndrome 2 DOID:0080586 Van Maldergem syndrome 2 615546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-73 fbln1 2192 FBLN1 synpolydactyly DOID:0060242 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-54 fbln5 10516 FBLN5 Macular degeneration, age-related, 3 608895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-54 fbln5 10516 FBLN5 Neuropathy, hereditary, with or without age-related macular degeneration 608895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-54 fbln5 10516 FBLN5 autosomal dominant cutis laxa 2 DOID:0070136 Cutis laxa, autosomal dominant 2 614434 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-54 fbln5 10516 FBLN5 autosomal recessive cutis laxa type IA DOID:0070135 Cutis laxa, autosomal recessive, type IA 219100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 Geleophysic dysplasia 2 614185 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 Marfan lipodystrophy syndrome 616914 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 MASS syndrome 604308 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 Stiff skin syndrome 184900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 acromicric dysplasia DOID:0111243 Acromicric dysplasia 102370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 autosomal dominant isolated ectopia lentis 1 DOID:0111150 Ectopia lentis, familial 129600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 Marfan syndrome DOID:14323 Marfan syndrome 154700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-466 fbn1 2200 FBN1 Weill-Marchesani syndrome DOID:0050475 Weill-Marchesani syndrome 2, dominant 608328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090112-4 fbn2a 2201 FBN2 Macular degeneration, early-onset 616118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090112-4 fbn2a 2201 FBN2 distal arthrogryposis DOID:0050646 Contractural arachnodactyly, congenital 121050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090112-3 fbn2b 2201 FBN2 Macular degeneration, early-onset 616118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090112-3 fbn2b 2201 FBN2 distal arthrogryposis DOID:0050646 Contractural arachnodactyly, congenital 121050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7171 fbp1a 2203 FBP1 fructose-1,6-bisphosphatase deficiency DOID:5204 Fructose-1,6-bisphosphatase deficiency 229700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-11 fbp1b 2203 FBP1 fructose-1,6-bisphosphatase deficiency DOID:5204 Fructose-1,6-bisphosphatase deficiency 229700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-5 fbxl3a 26224 FBXL3 Intellectual developmental disorder with short stature, facial anomalies, and speech defects 606220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-178 fbxl3b 26224 FBXL3 Intellectual developmental disorder with short stature, facial anomalies, and speech defects 606220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-187 fbxl4 26235 FBXL4 mitochondrial DNA depletion syndrome 13 DOID:0080131 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 615471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-70 fbxo11a 80204 FBXO11 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110810-2 fbxo11b 80204 FBXO11 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070628-4 fbxo31 79791 FBXO31 ?Mental retardation, autosomal recessive 45 615979 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2797 fbxo38 81545 FBXO38 distal hereditary motor neuronopathy type 2D DOID:0111210 Neuronopathy, distal hereditary motor, type IID 615575 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-68 fbxo7 25793 FBXO7 Parkinson's disease 15 DOID:0060372 Parkinson disease 15, autosomal recessive 260300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-242 fdft1 2222 FDFT1 Squalene synthase deficiency 618156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-78 fdps 2224 FDPS Porokeratosis 9, multiple types 616631 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1046 fdx2 112812 FDX2 mitochondrial myopathy DOID:699 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130613-2 fdxr 2232 FDXR Auditory neuropathy and optic atrophy 617717 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000928-1 fech 2235 FECH erythropoietic protoporphyria DOID:13270 Protoporphyria, erythropoietic, 1 177000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3264 fermt1 55612 FERMT1 Kindler syndrome DOID:0060472 Kindler syndrome 173650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-46 fermt3a 83706 FERMT3 leukocyte adhesion deficiency 3 DOID:0110912 Leukocyte adhesion deficiency, type III 612840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1366 fermt3b 83706 FERMT3 leukocyte adhesion deficiency 3 DOID:0110912 Leukocyte adhesion deficiency, type III 612840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-970 fezf1 389549 FEZF1 hypogonadotropic hypogonadism 22 with or without anosmia DOID:0090081 Hypogonadotropic hypogonadism 22, with or without anosmia 616030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-21 fga 2243 FGA Dysfibrinogenemia, congenital 616004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-21 fga 2243 FGA Hypodysfibrinogenemia, congenital 616004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-21 fga 2243 FGA congenital afibrinogenemia DOID:2236 Afibrinogenemia, congenital 202400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-21 fga 2243 FGA familial visceral amyloidosis DOID:0050636 Amyloidosis, familial visceral 105200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9261 fgb 2244 FGB Dysfibrinogenemia, congenital 616004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9261 fgb 2244 FGB congenital afibrinogenemia DOID:2236 Afibrinogenemia, congenital 202400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9261 fgb 2244 FGB congenital afibrinogenemia DOID:2236 Hypofibrinogenemia, congenital 202400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-33 fgd1 2245 FGD1 Aarskog-Scott syndrome 305400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-33 fgd1 2245 FGD1 Mental retardation, X-linked syndromic 16 305400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-347 fgd4a 121512 FGD4 Charcot-Marie-Tooth disease type 4H DOID:0110192 Charcot-Marie-Tooth disease, type 4H 609311 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110421-6 fgd4b 121512 FGD4 Charcot-Marie-Tooth disease type 4H DOID:0110192 Charcot-Marie-Tooth disease, type 4H 609311 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030715-1 fgf10a 2255 FGF10 Aplasia of lacrimal and salivary glands 180920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030715-1 fgf10a 2255 FGF10 LADD syndrome DOID:0050331 LADD syndrome 149730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060828-1 fgf10b 2255 FGF10 Aplasia of lacrimal and salivary glands 180920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060828-1 fgf10b 2255 FGF10 LADD syndrome DOID:0050331 LADD syndrome 149730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050221-6 fgf12a 2257 FGF12 early infantile epileptic encephalopathy 47 DOID:0080425 Epileptic encephalopathy, early infantile, 47 617166 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-134 fgf12b 2257 FGF12 early infantile epileptic encephalopathy 47 DOID:0080425 Epileptic encephalopathy, early infantile, 47 617166 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060506-1 fgf14 2259 FGF14 spinocerebellar ataxia type 27 DOID:0050976 Spinocerebellar ataxia 27 609307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060427-3 fgf16 8823 FGF16 Metacarpal 4-5 fusion 309630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040621-1 fgf17 8822 FGF17 hypogonadotropic hypogonadism 20 with or without anosmia DOID:0090082 Hypogonadotropic hypogonadism 20 with or without anosmia 615270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060110-1 fgf20a 26281 FGF20 ?Renal hypodysplasia/aplasia 2 615721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060117-5 fgf20b 26281 FGF20 ?Renal hypodysplasia/aplasia 2 615721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-4 fgf23 8074 FGF23 Osteomalacia, tumor-induced ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-4 fgf23 8074 FGF23 Tumoral calcinosis, hyperphosphatemic, familial, 2 617993 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-4 fgf23 8074 FGF23 autosomal dominant hypophosphatemic rickets DOID:0050948 Hypophosphatemic rickets, autosomal dominant 193100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-178 fgf3 2248 FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia 610706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-6 fgf5 2250 FGF5 Trichomegaly 190330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-72 fgf8a 2253 FGF8 hypogonadotropic hypogonadism 6 with or without anosmia DOID:0090086 Hypogonadotropic hypogonadism 6 with or without anosmia 612702 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010122-1 fgf8b 2253 FGF8 hypogonadotropic hypogonadism 6 with or without anosmia DOID:0090086 Hypogonadotropic hypogonadism 6 with or without anosmia 612702 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-238 fgf9 2254 FGF9 multiple synostoses syndrome DOID:0050794 Multiple synostoses syndrome 3 612961 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Encephalocraniocutaneous lipomatosis, somatic mosaic 613001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Hartsfield syndrome 615465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Jackson-Weiss syndrome 123150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Osteoglophonic dysplasia 166250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Trigonocephaly 1 190440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 hypogonadotropic hypogonadism 2 with or without anosmia DOID:0090083 Hypogonadotropic hypogonadism 2 with or without anosmia 147950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-255 fgfr1a 2260 FGFR1 Pfeiffer syndrome DOID:14705 Pfeiffer syndrome 101600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Encephalocraniocutaneous lipomatosis, somatic mosaic 613001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Hartsfield syndrome 615465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Jackson-Weiss syndrome 123150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Osteoglophonic dysplasia 166250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Trigonocephaly 1 190440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 hypogonadotropic hypogonadism 2 with or without anosmia DOID:0090083 Hypogonadotropic hypogonadism 2 with or without anosmia 147950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-14 fgfr1b 2260 FGFR1 Pfeiffer syndrome DOID:14705 Pfeiffer syndrome 101600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-1 fgfr1op 11116 FGFR1OP Myeloproliferative disorder 605392 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Craniosynostosis, nonspecific ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Jackson-Weiss syndrome 123150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Scaphocephaly and Axenfeld-Rieger anomaly ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Scaphocephaly, maxillary retrusion, and mental retardation 609579 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 acrocephalosyndactylia DOID:12960 Apert syndrome 101200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Antley-Bixler syndrome DOID:0050462 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Beare-Stevenson cutis gyrata syndrome DOID:0050660 Beare-Stevenson cutis gyrata syndrome 123790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Crouzon syndrome DOID:2339 Crouzon syndrome 123500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 LADD syndrome DOID:0050331 LADD syndrome 149730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Pfeiffer syndrome DOID:14705 Craniofacial-skeletal-dermatologic dysplasia 101600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Pfeiffer syndrome DOID:14705 Pfeiffer syndrome 101600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 pre-eclampsia DOID:10591 Bent bone dysplasia syndrome 614592 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 Saethre-Chotzen syndrome DOID:14768 Saethre-Chotzen syndrome 101400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030323-1 fgfr2 2263 FGFR2 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 achondroplasia DOID:4480 Achondroplasia 100800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 camptodactyly-tall stature-scoliosis-hearing loss syndrome DOID:0111160 CATSHL syndrome 610474 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 cervical cancer DOID:4362 Cervical cancer, somatic 603956 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 Crouzon syndrome-acanthosis nigricans syndrome DOID:0111161 Crouzon syndrome with acanthosis nigricans 612247 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 epidermal nevus DOID:0111162 Nevus, epidermal, somatic 162900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 hypochondroplasia DOID:0080041 Hypochondroplasia 146000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 LADD syndrome DOID:0050331 LADD syndrome 149730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 Muenke Syndrome DOID:0060703 Muenke syndrome 602849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 SADDAN DOID:0111158 SADDAN 616482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 testicular germ cell cancer DOID:5557 Spermatocytic seminoma, somatic 273300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 thanatophoric dysplasia DOID:13481 Thanatophoric dysplasia, type I 187600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 thanatophoric dysplasia DOID:13481 Thanatophoric dysplasia, type II 187601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000816-1 fgfr3 2261 FGFR3 urinary bladder cancer DOID:11054 Bladder cancer, somatic 109800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-488 fgfr4 2264 FGFR4 {Cancer progression/metastasis} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1998 fgg 2266 FGG Dysfibrinogenemia, congenital 616004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1998 fgg 2266 FGG Hypodysfibrinogenemia 616004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1998 fgg 2266 FGG congenital afibrinogenemia DOID:2236 Afibrinogenemia, congenital 202400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1998 fgg 2266 FGG congenital afibrinogenemia DOID:2236 Hypofibrinogenemia, congenital 202400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-6 fh 2271 FH Leiomyomatosis and renal cell cancer 150800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-6 fh 2271 FH fumarase deficiency DOID:0111261 Fumarase deficiency 606812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 ?Uruguay faciocardiomusculoskeletal syndrome 300280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 reducing body myopathy DOID:0080090 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 300717 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 reducing body myopathy DOID:0080090 Reducing body myopathy, X-linked 1b, with late childhood or adult onset 300718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 scapuloperoneal myopathy DOID:0060253 Scapuloperoneal myopathy, X-linked dominant 300695 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 X-linked Emery-Dreifuss muscular dystrophy 6 DOID:0070251 Emery-Dreifuss muscular dystrophy 6, X-linked 300696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040206-1 fhl1a 2273 FHL1 X-linked Emery-Dreifuss muscular dystrophy 6 DOID:0070251 Myopathy, X-linked, with postural muscle atrophy 300696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 ?Uruguay faciocardiomusculoskeletal syndrome 300280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 reducing body myopathy DOID:0080090 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 300717 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 reducing body myopathy DOID:0080090 Reducing body myopathy, X-linked 1b, with late childhood or adult onset 300718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 scapuloperoneal myopathy DOID:0060253 Scapuloperoneal myopathy, X-linked dominant 300695 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 X-linked Emery-Dreifuss muscular dystrophy 6 DOID:0070251 Emery-Dreifuss muscular dystrophy 6, X-linked 300696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-1 fhl1b 2273 FHL1 X-linked Emery-Dreifuss muscular dystrophy 6 DOID:0070251 Myopathy, X-linked, with postural muscle atrophy 300696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1363 fibpa 9158 FIBP Thauvin-Robinet-Faivre syndrome 617107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040630-2 fibpb 9158 FIBP Thauvin-Robinet-Faivre syndrome 617107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130213-1 fig4a 9896 FIG4 ?Polymicrogyria, bilateral temporooccipital 612691 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130213-1 fig4a 9896 FIG4 amyotrophic lateral sclerosis type 11 DOID:0060202 Amyotrophic lateral sclerosis 11 612577 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130213-1 fig4a 9896 FIG4 Charcot-Marie-Tooth disease type 4J DOID:0110184 Charcot-Marie-Tooth disease, type 4J 611228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130213-1 fig4a 9896 FIG4 Yunis-Varon syndrome DOID:0060589 Yunis-Varon syndrome 216340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141113-1 fig4b 9896 FIG4 ?Polymicrogyria, bilateral temporooccipital 612691 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141113-1 fig4b 9896 FIG4 amyotrophic lateral sclerosis type 11 DOID:0060202 Amyotrophic lateral sclerosis 11 612577 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141113-1 fig4b 9896 FIG4 Charcot-Marie-Tooth disease type 4J DOID:0110184 Charcot-Marie-Tooth disease, type 4J 611228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141113-1 fig4b 9896 FIG4 Yunis-Varon syndrome DOID:0060589 Yunis-Varon syndrome 216340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031121-1 figla 344018 FIGLA premature ovarian failure DOID:5426 Premature ovarian failure 6 612310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-75 fkbp10a 60681 FKBP10 Bruck syndrome DOID:0060231 Bruck syndrome 1 259450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-75 fkbp10a 60681 FKBP10 osteogenesis imperfecta type 11 DOID:0110351 Osteogenesis imperfecta, type XI 610968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3101 fkbp10b 60681 FKBP10 Bruck syndrome DOID:0060231 Bruck syndrome 1 259450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3101 fkbp10b 60681 FKBP10 osteogenesis imperfecta type 11 DOID:0110351 Osteogenesis imperfecta, type XI 610968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-210 fkbp14 55033 FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-630 fkbp5 2289 FKBP5 endogenous depression DOID:1595 {Major depressive disorder and accelerated response to antidepressant drug treatment} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070412-4 fkrp 79147 FKRP autosomal recessive limb-girdle muscular dystrophy type 2I DOID:0110299 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070412-4 fkrp 79147 FKRP congenital muscular dystrophy-dystroglycanopathy type A5 DOID:0111241 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070412-4 fkrp 79147 FKRP muscular dystrophy-dystroglycanopathy type B5 DOID:0110635 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-96 fktn 2218 FKTN autosomal recessive limb-girdle muscular dystrophy type 2M DOID:0110296 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-96 fktn 2218 FKTN dilated cardiomyopathy 1X DOID:0110444 Cardiomyopathy, dilated, 1X 611615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-96 fktn 2218 FKTN Fukuyama congenital muscular dystrophy DOID:0050559 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-96 fktn 2218 FKTN muscular dystrophy-dystroglycanopathy DOID:0050588 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-44 flad1 80308 FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 255100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3470 flcn 201163 FLCN Birt-Hogg-Dube syndrome DOID:0050676 Birt-Hogg-Dube syndrome 135150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3470 flcn 201163 FLCN colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3470 flcn 201163 FLCN nonpapillary renal cell carcinoma DOID:0050387 Renal carcinoma, chromophobe, somatic 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3470 flcn 201163 FLCN primary spontaneous pneumothorax DOID:0080218 Pneumothorax, primary spontaneous 173600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-426 fli1a 2313 FLI1 Bleeding disorder, platelet-type, 21 617443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031114-3 fli1b 2313 FLI1 Bleeding disorder, platelet-type, 21 617443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Cardiac valvular dysplasia, X-linked 314400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Congenital short bowel syndrome 300048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Frontometaphyseal dysplasia 1 305620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Intestinal pseudoobstruction, neuronal 300048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Melnick-Needles syndrome 309350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Otopalatodigital syndrome, type I 311300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Otopalatodigital syndrome, type II 304120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA Terminal osseous dysplasia 300244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA FG syndrome DOID:14711 ?FG syndrome 2 300321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2145 flna 2316 FLNA periventricular nodular heterotopia DOID:0050454 Heterotopia, periventricular, 1 300049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-1 flnb 2317 FLNB atelosteogenesis DOID:0050648 Atelosteogenesis, type I 108720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-1 flnb 2317 FLNB atelosteogenesis DOID:0050648 Atelosteogenesis, type III 108721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-1 flnb 2317 FLNB Boomerang dysplasia DOID:0050680 Boomerang dysplasia 112310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-1 flnb 2317 FLNB Larsen syndrome DOID:14764 Larsen syndrome 150250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-1 flnb 2317 FLNB spondylocarpotarsal synostosis syndrome DOID:0090116 Spondylocarpotarsal synostosis syndrome 272460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070503-1 flnca 2318 FLNC Cardiomyopathy, familial hypertrophic, 26 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070503-1 flnca 2318 FLNC distal muscular dystrophy 4 DOID:0111190 Myopathy, distal, 4 614065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070503-1 flnca 2318 FLNC hypertrophic cardiomyopathy 26 DOID:0110327 Cardiomyopathy, familial restrictive 5 617047 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070503-1 flnca 2318 FLNC myofibrillar myopathy 5 DOID:0080096 Myopathy, myofibrillar, 5 609524 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-175 flncb 2318 FLNC Cardiomyopathy, familial hypertrophic, 26 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-175 flncb 2318 FLNC distal muscular dystrophy 4 DOID:0111190 Myopathy, distal, 4 614065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-175 flncb 2318 FLNC hypertrophic cardiomyopathy 26 DOID:0110327 Cardiomyopathy, familial restrictive 5 617047 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-175 flncb 2318 FLNC myofibrillar myopathy 5 DOID:0080096 Myopathy, myofibrillar, 5 609524 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1988 flrt3 23767 FLRT3 hypogonadotropic hypogonadism 21 with or without anosmia DOID:0090093 Hypogonadotropic hypogonadism 21 with anosmia 615271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-4 flt3 2322 FLT3 acute lymphocytic leukemia DOID:9952 Leukemia, acute lymphoblastic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-4 flt3 2322 FLT3 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, reduced survival in, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-4 flt3 2322 FLT3 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-326 flt4 2324 FLT4 Hemangioma, capillary infantile, somatic 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-326 flt4 2324 FLT4 hereditary lymphedema IA DOID:0070210 Lymphatic malformation 1 153100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-359 flvcr1 28982 FLVCR1 Ataxia, posterior column, with retinitis pigmentosa 609033 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111020-14 flvcr2a 55640 FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 225790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-312 flvcr2b 55640 FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 225790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101107-1 fmn2a 56776 FMN2 Mental retardation, autosomal recessive 47 616193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080225-35 fmn2b 56776 FMN2 Mental retardation, autosomal recessive 47 616193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020731-6 fmr1 2332 FMR1 fragile X-associated tremor/ataxia syndrome DOID:0050879 Fragile X tremor/ataxia syndrome 300623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020731-6 fmr1 2332 FMR1 fragile X syndrome DOID:14261 Fragile X syndrome 300624 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020731-6 fmr1 2332 FMR1 premature ovarian failure DOID:5426 Premature ovarian failure 1 311360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000426-1 fn1a 2335 FN1 Glomerulopathy with fibronectin deposits 2 601894 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000426-1 fn1a 2335 FN1 Plasma fibronectin deficiency 614101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000426-1 fn1a 2335 FN1 Spondylometaphyseal dysplasia, corner fracture type 184255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6545 fn1b 2335 FN1 Glomerulopathy with fibronectin deposits 2 601894 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6545 fn1b 2335 FN1 Plasma fibronectin deficiency 614101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6545 fn1b 2335 FN1 Spondylometaphyseal dysplasia, corner fracture type 184255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010302-1 foxc1a 2296 FOXC1 Axenfeld-Rieger syndrome type 3 DOID:0110122 Axenfeld-Rieger syndrome, type 3 602482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010302-1 foxc1a 2296 FOXC1 iridogoniodysgenesis syndrome DOID:0050786 Anterior segment dysgenesis 3, multiple subtypes 601631 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010302-2 foxc1b 2296 FOXC1 Axenfeld-Rieger syndrome type 3 DOID:0110122 Axenfeld-Rieger syndrome, type 3 602482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010302-2 foxc1b 2296 FOXC1 iridogoniodysgenesis syndrome DOID:0050786 Anterior segment dysgenesis 3, multiple subtypes 601631 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-143 foxd3 27022 FOXD3 {Autoimmune disease, susceptibility to, 1} 607836 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061116-1 foxe1 2304 FOXE1 {Thyroid cancer, nonmedullary, 4} 616534 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061116-1 foxe1 2304 FOXE1 Bamforth-Lazarus syndrome DOID:0050655 Bamforth-Lazarus syndrome 241850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-6 foxe3 2301 FOXE3 {Aortic aneurysm, familial thoracic 11, susceptibility to} 617349 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-6 foxe3 2301 FOXE3 cataract 34 multiple types DOID:0110230 Cataract 34, multiple types 612968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-6 foxe3 2301 FOXE3 congenital aphakia DOID:11367 Anterior segment dysgenesis 2, multiple subtypes 610256 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-153 foxf1 2294 FOXF1 persistent fetal circulation syndrome DOID:13042 Alveolar capillary dysplasia with misalignment of pulmonary veins 265380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-267 foxg1a 2290 FOXG1 Rett syndrome DOID:1206 Rett syndrome, congenital variant 613454 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030505-1 foxi1 2299 FOXI1 autosomal recessive nonsyndromic deafness 4 DOID:0110498 Enlarged vestibular aqueduct 600791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-241 foxl2a 668 FOXL2 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 Blepharophimosis, epicanthus inversus, and ptosis, type 1 110100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-241 foxl2a 668 FOXL2 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 Blepharophimosis, epicanthus inversus, and ptosis, type 2 110100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-241 foxl2a 668 FOXL2 premature ovarian failure DOID:5426 Premature ovarian failure 3 608996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170803-1 foxl2b 668 FOXL2 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 Blepharophimosis, epicanthus inversus, and ptosis, type 1 110100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170803-1 foxl2b 668 FOXL2 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 Blepharophimosis, epicanthus inversus, and ptosis, type 2 110100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170803-1 foxl2b 668 FOXL2 premature ovarian failure DOID:5426 Premature ovarian failure 3 608996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021008-1 foxn1 8456 FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 601705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-59 foxo1a 2308 FOXO1 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080425-3 foxo1b 2308 FOXO1 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-624 foxp1a 27086 FOXP1 Mental retardation with language impairment and with or without autistic features 613670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041203-1 foxp1b 27086 FOXP1 Mental retardation with language impairment and with or without autistic features 613670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041203-2 foxp2 93986 FOXP2 speech-language disorder-1 DOID:0111275 Speech-language disorder-1 602081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061116-2 foxp3a 50943 FOXP3 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome DOID:0090110 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-332 foxp3b 50943 FOXP3 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome DOID:0090110 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-64 foxred1 55572 FOXRED1 Mitochondrial complex I deficiency, nuclear type 19 618241 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-68 fras1 80144 FRAS1 Fraser syndrome 1 219000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-1 frem1a 158326 FREM1 Bifid nose with or without anorectal and renal anomalies 608980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-1 frem1a 158326 FREM1 Manitoba oculotrichoanal syndrome 248450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-1 frem1a 158326 FREM1 Trigonocephaly 2 614485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-783 frem1b 158326 FREM1 Bifid nose with or without anorectal and renal anomalies 608980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-783 frem1b 158326 FREM1 Manitoba oculotrichoanal syndrome 248450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-783 frem1b 158326 FREM1 Trigonocephaly 2 614485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-3 frem2a 341640 FREM2 Cryptophthalmos, unilateral or bilateral, isolated 123570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-3 frem2a 341640 FREM2 Fraser syndrome 2 617666 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-4 frem2b 341640 FREM2 Cryptophthalmos, unilateral or bilateral, isolated 123570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081119-4 frem2b 341640 FREM2 Fraser syndrome 2 617666 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-67 frmd7 90167 FRMD7 Nystagmus 1, congenital, X-linked 310700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-67 frmd7 90167 FRMD7 Nystagmus, infantile periodic alternating, X-linked 310700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121004-1 frmpd4 9758 FRMPD4 Mental retardation, X-linked 104 300983 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120827-1 frrs1l 23732 FRRS1L early infantile epileptic encephalopathy 37 DOID:0080435 Epileptic encephalopathy, early infantile, 37 616981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-1 frzb 2487 FRZB {Osteoarthritis susceptibility 1} 165720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110901-1 fscn2a 25794 FSCN2 retinitis pigmentosa 30 DOID:0110406 Retinitis pigmentosa 30 607921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1740 fscn2b 25794 FSCN2 retinitis pigmentosa 30 DOID:0110406 Retinitis pigmentosa 30 607921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-1 fshb 2488 FSHB hypogonadotropic hypogonadism 24 without anosmia DOID:0090088 Hypogonadotropic hypogonadism 24 without anosmia 229070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020423-5 fshr 2492 FSHR Ovarian response to FSH stimulation 276400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020423-5 fshr 2492 FSHR ovarian dysgenesis 1 DOID:0080493 Ovarian dysgenesis 1 233300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020423-5 fshr 2492 FSHR ovarian hyperstimulation syndrome DOID:5425 Ovarian hyperstimulation syndrome 608115 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9643 ftcd 10841 FTCD Glutamate formiminotransferase deficiency 229100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000831-2 fth1a 2495 FTH1 hemochromatosis type 5 DOID:0111031 ?Hemochromatosis, type 5 615517 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-30 fth1b 2495 FTH1 hemochromatosis type 5 DOID:0111031 ?Hemochromatosis, type 5 615517 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-1 fto 79068 FTO Growth retardation, developmental delay, facial dysmorphism 612938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-1 fto 79068 FTO {Obesity, susceptibility to, BMIQ14} 612460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-83 ftsj1 24140 FTSJ1 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 9/44 309549 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7434 fuca1.1 2517 FUCA1 fucosidosis DOID:14500 Fucosidosis 230000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-78 fuca1.2 2517 FUCA1 fucosidosis DOID:14500 Fucosidosis 230000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110819-1 fuk 197258 FCSK Congenital disorder of glycosylation with defective fucosylation 2 618324 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1010 fus 2521 FUS amyotrophic lateral sclerosis type 6 DOID:0060198 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 608030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1010 fus 2521 FUS essential tremor DOID:4990 Essential tremor, hereditary, 4 614782 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-20 fut8a 2530 FUT8 Congenital disorder of glycosylation with defective fucosylation 1 618005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-923 fut8b 2530 FUT8 Congenital disorder of glycosylation with defective fucosylation 1 618005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090609-2 fuz 80199 FUZ {Neural tube defects, susceptibility to} 182940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-286 fxn 2395 FXN Friedreich ataxia DOID:12705 Friedreich ataxia 229300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-286 fxn 2395 FXN Friedreich ataxia DOID:12705 Friedreich ataxia with retained reflexes 229300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-286 fxn 2395 FXN Friedreich ataxia 1 DOID:0111218 Friedreich ataxia 229300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-286 fxn 2395 FXN Friedreich ataxia 1 DOID:0111218 Friedreich ataxia with retained reflexes 229300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-364 fyba 2533 FYB1 thrombocytopenia DOID:1588 Thrombocytopenia 3 273900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-85 fybb 2533 FYB1 thrombocytopenia DOID:1588 Thrombocytopenia 3 273900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-276 fyco1a 79443 FYCO1 cataract 18 DOID:0110238 Cataract 18, autosomal recessive 610019 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130326-1 fyco1b 79443 FYCO1 cataract 18 DOID:0110238 Cataract 18, autosomal recessive 610019 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-224 fzd2 2535 FZD2 omodysplasia DOID:0060288 Omodysplasia 2 164745 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-217 fzd4 8322 FZD4 exudative vitreoretinopathy DOID:0050535 Exudative vitreoretinopathy 1 133780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-217 fzd4 8322 FZD4 exudative vitreoretinopathy DOID:0050535 Retinopathy of prematurity 133780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1451 fzd6 8323 FZD6 nonsyndromic congenital nail disorder 10 DOID:0080088 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) 614157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-19 g6pc3 92579 G6PC3 Dursun syndrome 612541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-19 g6pc3 92579 G6PC3 Neutropenia, severe congenital 4, autosomal recessive 612541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031001-4 g6pca.1 2538 G6PC glycogen storage disease I DOID:2749 Glycogen storage disease Ia 232200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-17 g6pca.2 2538 G6PC glycogen storage disease I DOID:2749 Glycogen storage disease Ia 232200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081223-2 g6pcb 2538 G6PC glycogen storage disease I DOID:2749 Glycogen storage disease Ia 232200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-4 g6pd 2539 G6PD {Resistance to malaria due to G6PD deficiency} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070508-4 g6pd 2539 G6PD congenital nonspherocytic hemolytic anemia DOID:2861 Hemolytic anemia, G6PD deficient (favism) 300908 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070212-2 gaa 2548 GAA glycogen storage disease II DOID:2752 Glycogen storage disease II 232300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2674 gab1 2549 GAB1 autosomal recessive nonsyndromic deafness 26 DOID:0110484 ?Deafness, autosomal recessive 26 605428 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-620 gabbr2 9568 GABBR2 Neurodevelopmental disorder with poor language and loss of hand skills 617903 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-620 gabbr2 9568 GABBR2 {Nicotine dependence, protection against} 188890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-620 gabbr2 9568 GABBR2 {Nicotine dependence, susceptibility to} 188890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-620 gabbr2 9568 GABBR2 early infantile epileptic encephalopathy 59 DOID:0080291 Epileptic encephalopathy, early infantile, 59 617904 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-194 gabra1 2554 GABRA1 early infantile epileptic encephalopathy 19 DOID:0080431 Epileptic encephalopathy, early infantile, 19 615744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-194 gabra1 2554 GABRA1 idiopathic generalized epilepsy 13 DOID:0111314 {Epilepsy, childhood absence, susceptibility to, 4} 611136 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-194 gabra1 2554 GABRA1 idiopathic generalized epilepsy 13 DOID:0111314 {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-16 gabra2a 2555 GABRA2 Epileptic encephalopathy, early infantile, 78 618557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-16 gabra2a 2555 GABRA2 alcohol dependence DOID:0050741 {Alcohol dependence, susceptibility to} 103780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-171102-1 gabra2b 2555 GABRA2 Epileptic encephalopathy, early infantile, 78 618557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-171102-1 gabra2b 2555 GABRA2 alcohol dependence DOID:0050741 {Alcohol dependence, susceptibility to} 103780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-30 gabra5 2558 GABRA5 Epileptic encephalopathy, early infantile, 79 618559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-230 gabrb1 2560 GABRB1 early infantile epileptic encephalopathy 45 DOID:0080428 Epileptic encephalopathy, early infantile, 45 617153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8196 gabrb2a 2561 GABRB2 infantile or early childhood epileptic encephalopathy 2 DOID:0080471 Epileptic encephalopathy, infantile or early childhood, 2 617829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111215-5 gabrb2b 2561 GABRB2 infantile or early childhood epileptic encephalopathy 2 DOID:0080471 Epileptic encephalopathy, infantile or early childhood, 2 617829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101102-2 gabrb3 2562 GABRB3 {Epilepsy, childhood absence, susceptibility to, 5} 612269 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101102-2 gabrb3 2562 GABRB3 early infantile epileptic encephalopathy 43 DOID:0080447 Epileptic encephalopathy, early infantile, 43 617113 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-170 gabrd 2563 GABRD idiopathic generalized epilepsy 10 DOID:0111292 {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} 613060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-170 gabrd 2563 GABRD idiopathic generalized epilepsy 10 DOID:0111292 {Epilepsy, idiopathic generalized, 10} 613060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-170 gabrd 2563 GABRD idiopathic generalized epilepsy 10 DOID:0111292 {Epilepsy, juvenile myoclonic, susceptibility to} 613060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-65 gabrg2 2566 GABRG2 Epileptic encephalopathy, early infantile, 74 618396 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-65 gabrg2 2566 GABRG2 familial febrile seizures 8 DOID:0111298 Epilepsy, generalized, with febrile seizures plus, type 3 607681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-65 gabrg2 2566 GABRG2 familial febrile seizures 8 DOID:0111298 Febrile seizures, familial, 8 607681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-472 gad1a 2571 GAD1 spastic quadriplegia DOID:10970 ?Cerebral palsy, spastic quadriplegic, 1 603513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-3 gad1b 2571 GAD1 spastic quadriplegia DOID:10970 ?Cerebral palsy, spastic quadriplegic, 1 603513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-243 galca 2581 GALC Krabbe disease DOID:10587 Krabbe disease 245200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2115 galcb 2581 GALC Krabbe disease DOID:10587 Krabbe disease 245200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-6479 gale 2582 GALE galactosemia DOID:9870 Galactose epimerase deficiency 230350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-79 galk1 2584 GALK1 galactokinase deficiency DOID:14695 Galactokinase deficiency with cataracts 230200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111117-2 galn 51083 GAL familial temporal lobe epilepsy 8 DOID:0060754 ?Epilepsy, familial temporal lobe, 8 616461 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1152 galns 2588 GALNS mucopolysaccharidosis IV DOID:12804 Mucopolysaccharidosis IVA 253000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-704 galnt12 79695 GALNT12 {Colorectal cancer, susceptibility to, 1} 608812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120313-1 galnt3 2591 GALNT3 hyperphosphatemic familial tumoral calcinosis DOID:0111063 Tumoral calcinosis, hyperphosphatemic, familial, 1 211900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-172 galt 2592 GALT galactosemia DOID:9870 Galactosemia 230400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-97 gamt 2593 GAMT guanidinoacetate methyltransferase deficiency DOID:0050799 Cerebral creatine deficiency syndrome 2 612736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121221-1 gan 8139 GAN giant axonal neuropathy 1 DOID:0090068 Giant axonal neuropathy-1 256850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110930-9 ganab 23193 GANAB polycystic kidney disease 3 DOID:0110860 Polycystic kidney disease 3 600666 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9174 gars1 2617 GARS1 Charcot-Marie-Tooth disease type 2D DOID:0110164 Charcot-Marie-Tooth disease, type 2D 601472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9174 gars1 2617 GARS1 distal hereditary motor neuronopathy type 5A DOID:0111204 Neuropathy, distal hereditary motor, type VA 600794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170206-1 gas2l2 246176 GAS2L2 ?Ciliary dyskinesia, primary, 41 618449 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1980 gas8 2622 GAS8 primary ciliary dyskinesia 33 DOID:0110619 Ciliary dyskinesia, primary, 33 616726 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-268 gata1a 2623 GATA1 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-268 gata1a 2623 GATA1 Thrombocytopenia with beta-thalassemia, X-linked 314050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-268 gata1a 2623 GATA1 Down syndrome DOID:14250 Leukemia, megakaryoblastic, with or without Down syndrome, somatic 190685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-268 gata1a 2623 GATA1 thrombocytopenia DOID:1588 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-43 gata1b 2623 GATA1 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-43 gata1b 2623 GATA1 Thrombocytopenia with beta-thalassemia, X-linked 314050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-43 gata1b 2623 GATA1 Down syndrome DOID:14250 Leukemia, megakaryoblastic, with or without Down syndrome, somatic 190685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-43 gata1b 2623 GATA1 thrombocytopenia DOID:1588 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-260 gata2a 2624 GATA2 Emberger syndrome 614038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-260 gata2a 2624 GATA2 Immunodeficiency 21 614172 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-260 gata2a 2624 GATA2 acute myeloid leukemia DOID:9119 {Leukemia, acute myeloid, susceptibility to} 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-260 gata2a 2624 GATA2 myelodysplastic syndrome DOID:0050908 {Myelodysplastic syndrome, susceptibility to} 614286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-440 gata2b 2624 GATA2 Emberger syndrome 614038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-440 gata2b 2624 GATA2 Immunodeficiency 21 614172 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-440 gata2b 2624 GATA2 acute myeloid leukemia DOID:9119 {Leukemia, acute myeloid, susceptibility to} 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-440 gata2b 2624 GATA2 myelodysplastic syndrome DOID:0050908 {Myelodysplastic syndrome, susceptibility to} 614286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-82 gata3 2625 GATA3 hypoparathyroidism-deafness-renal disease syndrome DOID:0060878 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 146255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-476 gata4 2626 GATA4 ?Testicular anomalies with or without congenital heart disease 615542 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-476 gata4 2626 GATA4 atrial heart septal defect 2 DOID:0110107 Atrial septal defect 2 607941 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-476 gata4 2626 GATA4 atrioventricular septal defect DOID:0050651 Atrioventricular septal defect 4 614430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-476 gata4 2626 GATA4 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-476 gata4 2626 GATA4 ventricular septal defect DOID:1657 Ventricular septal defect 1 614429 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-340 gata5 140628 GATA5 Congenital heart defects, multiple types, 5 617912 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000622-1 gata6 2627 GATA6 Pancreatic agenesis and congenital heart defects 600001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000622-1 gata6 2627 GATA6 atrial heart septal defect 9 DOID:0110114 Atrial septal defect 9 614475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000622-1 gata6 2627 GATA6 atrioventricular septal defect DOID:0050651 Atrioventricular septal defect 5 614474 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000622-1 gata6 2627 GATA6 double outlet right ventricle DOID:6406 Persistent truncus arteriosus 217095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000622-1 gata6 2627 GATA6 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050629-1 gatad1 57798 GATAD1 dilated cardiomyopathy 2B DOID:0110441 ?Cardiomyopathy, dilated, 2B 614672 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-655 gatad2b 57459 GATAD2B autosomal dominant non-syndromic intellectual disability 18 DOID:0070048 Mental retardation, autosomal dominant 18 615074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021015-1 gatm 2628 GATM AGAT deficiency DOID:0050712 Cerebral creatine deficiency syndrome 3 612718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Gaucher disease, type IIIC 231005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Gaucher's disease perinatal lethal DOID:0110960 Gaucher disease, perinatal lethal 608013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Gaucher's disease type I DOID:0110957 Gaucher disease, type I 230800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Gaucher's disease type II DOID:0110958 Gaucher disease, type II 230900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Gaucher's disease type III DOID:0110959 Gaucher disease, type III 231000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA late onset Parkinson's disease DOID:0060892 {Parkinson disease, late-onset, susceptibility to} 168600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-270 gba 2629 GBA Lewy body dementia DOID:12217 {Lewy body dementia, susceptibility to} 127750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070522-3 gba2 57704 GBA2 hereditary spastic paraplegia 46 DOID:0110798 Spastic paraplegia 46, autosomal recessive 614409 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-171 gbe1a 2632 GBE1 Polyglucosan body disease, adult form 263570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-171 gbe1a 2632 GBE1 glycogen storage disease IV DOID:2750 Glycogen storage disease IV 232500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110914-16 gbe1b 2632 GBE1 Polyglucosan body disease, adult form 263570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110914-16 gbe1b 2632 GBE1 glycogen storage disease IV DOID:2750 Glycogen storage disease IV 232500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1855 gcdha 2639 GCDH glutaric acidemia I DOID:0111254 Glutaricaciduria, type I 231670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-117 gcdhb 2639 GCDH glutaric acidemia I DOID:0111254 Glutaricaciduria, type I 231670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010219-1 gcga 2641 GCG [?Hyperproglucagonemia] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040712-2 gcgb 2641 GCG [?Hyperproglucagonemia] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050516-1 gcgra 2642 GCGR type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050516-2 gcgrb 2642 GCGR type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070720-5 gch1 2643 GCH1 Hyperphenylalaninemia, BH4-deficient, B 233910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070720-5 gch1 2643 GCH1 dystonia 5 DOID:0090043 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001205-3 gch2 2643 GCH1 Hyperphenylalaninemia, BH4-deficient, B 233910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001205-3 gch2 2643 GCH1 dystonia 5 DOID:0090043 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-204 gck 2645 GCK familial hyperinsulinemic hypoglycemia 3 DOID:0070216 Hyperinsulinemic hypoglycemia, familial, 3 602485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-204 gck 2645 GCK maturity-onset diabetes of the young type 2 DOID:0111100 MODY, type II 125851 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-204 gck 2645 GCK permanent neonatal diabetes mellitus DOID:0060639 Diabetes mellitus, permanent neonatal 606176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-204 gck 2645 GCK type 2 diabetes mellitus DOID:9352 Diabetes mellitus, noninsulin-dependent, late onset 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-248 gckr 2646 GCKR [Fasting plasma glucose level QTL 5] 613463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5056 gclc 2729 GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5056 gclc 2729 GCLC {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5906 gclm 2730 GCLM {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050127-1 gcm2 9247 GCM2 Hyperparathyroidism 4 617343 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050127-1 gcm2 9247 GCM2 hypoparathyroidism DOID:11199 Hypoparathyroidism, familial isolated 146200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-18 gcsha 2653 GCSH glycine encephalopathy DOID:9268 ?Glycine encephalopathy 605899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-319 gcshb 2653 GCSH glycine encephalopathy DOID:9268 ?Glycine encephalopathy 605899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-424 gdap1 54332 GDAP1 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 607706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-424 gdap1 54332 GDAP1 Charcot-Marie-Tooth disease axonal type 2K DOID:0110167 Charcot-Marie-Tooth disease, axonal, type 2K 607831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-424 gdap1 54332 GDAP1 Charcot-Marie-Tooth disease recessive intermediate A DOID:0110201 Charcot-Marie-Tooth disease, recessive intermediate, A 608340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-424 gdap1 54332 GDAP1 Charcot-Marie-Tooth disease type 4A DOID:0110185 Charcot-Marie-Tooth disease, type 4A 214400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-31 gdap2 54834 GDAP2 Spinocerebellar ataxia, autosomal recessive 27 618369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100107-1 gdf2 2658 GDF2 hereditary hemorrhagic telangiectasia DOID:1270 Telangiectasia, hereditary hemorrhagic, type 5 615506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-389 gdf3 9573 GDF3 Microphthalmia with coloboma 6 613703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-389 gdf3 9573 GDF3 isolated microphthalmia 7 DOID:0060838 Microphthalmia, isolated 7 613704 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-389 gdf3 9573 GDF3 Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome 3, autosomal dominant 613702 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 {Osteoarthritis-5} 612400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 Symphalangism, proximal, 1B 615298 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 acromesomelic dysplasia, Grebe type DOID:0080052 Chondrodysplasia, Grebe type 200700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 acromesomelic dysplasia, Hunter-Thompson type DOID:0080051 ?Acromesomelic dysplasia, Hunter-Thompson type 201250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 brachydactyly type A1C DOID:0110977 Brachydactyly, type A1, C 615072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 brachydactyly type A2 DOID:0110965 Brachydactyly, type A2 112600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 brachydactyly type C DOID:0110970 Brachydactyly, type C 113100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 fibular hypoplasia and complex brachydactyly DOID:0050790 Du Pan syndrome 228900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-39 gdf5 8200 GDF5 multiple synostoses syndrome DOID:0050794 Multiple synostoses syndrome 2 610017 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-373 gdf6a 392255 GDF6 Microphthalmia with coloboma 6, digenic 613703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-373 gdf6a 392255 GDF6 Multiple synostoses syndrome 4 617898 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-373 gdf6a 392255 GDF6 isolated microphthalmia 4 DOID:0060836 Microphthalmia, isolated 4 613094 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-373 gdf6a 392255 GDF6 Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome 1, autosomal dominant 118100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-373 gdf6a 392255 GDF6 Leber congenital amaurosis 17 DOID:0110217 Leber congenital amaurosis 17 615360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-442 gdf6b 392255 GDF6 Microphthalmia with coloboma 6, digenic 613703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-442 gdf6b 392255 GDF6 Multiple synostoses syndrome 4 617898 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-442 gdf6b 392255 GDF6 isolated microphthalmia 4 DOID:0060836 Microphthalmia, isolated 4 613094 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-442 gdf6b 392255 GDF6 Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome 1, autosomal dominant 118100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-442 gdf6b 392255 GDF6 Leber congenital amaurosis 17 DOID:0110217 Leber congenital amaurosis 17 615360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050221-7 gdf9 2661 GDF9 ?Premature ovarian failure 14 618014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-504 gdi1 2664 GDI1 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 41 300849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010226-1 gdnfa 2668 GDNF {Hirschsprung disease, susceptibility to, 3} 613711 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010226-1 gdnfa 2668 GDNF congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010226-1 gdnfa 2668 GDNF pheochromocytoma DOID:0050771 {Pheochromocytoma, modifier of} 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110609-2 gdnfb 2668 GDNF {Hirschsprung disease, susceptibility to, 3} 613711 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110609-2 gdnfb 2668 GDNF congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110609-2 gdnfb 2668 GDNF pheochromocytoma DOID:0050771 {Pheochromocytoma, modifier of} 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-188 gemin4 50628 GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 617913 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990914-3 gfap 2670 GFAP Alexander disease DOID:4252 Alexander disease 203450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-186 gfer 2671 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 613076 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-534 gfi1aa 2672 GFI1 ?Neutropenia, nonimmune chronic idiopathic, of adults 607847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-534 gfi1aa 2672 GFI1 ?Neutropenia, severe congenital 2, autosomal dominant 613107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-8 gfi1ab 2672 GFI1 ?Neutropenia, nonimmune chronic idiopathic, of adults 607847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-8 gfi1ab 2672 GFI1 ?Neutropenia, severe congenital 2, autosomal dominant 613107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-129 gfi1b 8328 GFI1B platelet-type bleeding disorder 17 DOID:0111049 Bleeding disorder, platelet-type, 17 187900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-79 gfm1 85476 GFM1 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 1 609060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060201-3 gfm2 84340 GFM2 Combined oxidative phosphorylation deficiency 39 618397 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070423-1 gfpt1 2673 GFPT1 congenital myasthenic syndrome 12 DOID:0110660 Myasthenia, congenital, 12, with tubular aggregates 610542 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-27 ggcx 2677 GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 610842 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-27 ggcx 2677 GGCX Vitamin K-dependent clotting factors, combined deficiency of, 1 277450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1388 ggt1a 2678 GGT1 gamma-glutamyl transpeptidase deficiency DOID:0111257 ?Glutathioninuria 231950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-13 ggt1b 2678 GGT1 gamma-glutamyl transpeptidase deficiency DOID:0111257 ?Glutathioninuria 231950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030725-2 gh1 2688 GH1 Kowarski syndrome 262650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030725-2 gh1 2688 GH1 isolated growth hormone deficiency type IA DOID:0060873 Growth hormone deficiency, isolated, type IA 262400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030725-2 gh1 2688 GH1 isolated growth hormone deficiency type IB DOID:0060874 Growth hormone deficiency, isolated, type IB 612781 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030725-2 gh1 2688 GH1 isolated growth hormone deficiency type II DOID:0060872 Growth hormone deficiency, isolated, type II 173100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070509-1 ghra 2690 GHR Growth hormone insensitivity, partial 604271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070509-1 ghra 2690 GHR Increased responsiveness to growth hormone 604271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070509-1 ghra 2690 GHR familial hypercholesterolemia DOID:13810 {Hypercholesterolemia, familial, modifier of} 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070509-1 ghra 2690 GHR Laron syndrome DOID:9521 Laron dwarfism 262500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071119-4 ghrb 2690 GHR Growth hormone insensitivity, partial 604271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071119-4 ghrb 2690 GHR Increased responsiveness to growth hormone 604271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071119-4 ghrb 2690 GHR familial hypercholesterolemia DOID:13810 {Hypercholesterolemia, familial, modifier of} 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071119-4 ghrb 2690 GHR Laron syndrome DOID:9521 Laron dwarfism 262500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070426-1 ghrh 2691 GHRH Gigantism due to GHRF hypersecretion ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070426-1 ghrh 2691 GHRH ?Isolated growth hormone deficiency due to defect in GHRF ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050315-2 ghrhra 2692 GHRHR Growth hormone deficiency, isolated, type IV 618157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110127-2 ghrhrb 2692 GHRHR Growth hormone deficiency, isolated, type IV 618157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070622-2 ghrl 51738 GHRL obesity DOID:9970 {Obesity, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-238 ghsra 2693 GHSR Growth hormone deficiency, isolated partial 615925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090327-1 ghsrb 2693 GHSR Growth hormone deficiency, isolated partial 615925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-185 gigyf2 26058 GIGYF2 {Parkinson disease 11} 607688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-184 gins1 9837 GINS1 Immunodeficiency 55 617827 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-326 gipc3 126326 GIPC3 autosomal recessive nonsyndromic deafness 15 DOID:0110470 Deafness, autosomal recessive 15 601869 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050516-4 gipr 2696 GIPR [Plasma glucose, 2-hour, QTL 2] 137241 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031217-3 gja3 2700 GJA3 cataract 14 multiple types DOID:0110253 Cataract 14, multiple types 601885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040407-3 gja5a 2702 GJA5 Atrial standstill, digenic (GJA5/SCN5A) 108770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040407-3 gja5a 2702 GJA5 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 11 614049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-11 gja5b 2702 GJA5 Atrial standstill, digenic (GJA5/SCN5A) 108770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-11 gja5b 2702 GJA5 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 11 614049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050616-14 gja8a 2703 GJA8 cataract 1 multiple types DOID:0110231 Cataract 1, multiple types 116200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010607-3 gja8b 2703 GJA8 cataract 1 multiple types DOID:0110231 Cataract 1, multiple types 116200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-207 gla 2717 GLA Fabry disease DOID:14499 Fabry disease 301500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-207 gla 2717 GLA Fabry disease DOID:14499 Fabry disease, cardiac variant 301500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-9 glb1 2720 GLB1 GM1 gangliosidosis type 1 DOID:0080502 GM1-gangliosidosis, type I 230500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-9 glb1 2720 GLB1 GM1 gangliosidosis type 2 DOID:0080501 GM1-gangliosidosis, type II 230600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-9 glb1 2720 GLB1 GM1 gangliosidosis type 3 DOID:0080489 GM1-gangliosidosis, type III 230650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-9 glb1 2720 GLB1 mucopolysaccharidosis IV DOID:12804 Mucopolysaccharidosis type IVB (Morquio) 253010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-41 glcci1a 113263 GLCCI1 {Glucocorticoid therapy, response to} 614400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170628-1 glcci1b 113263 GLCCI1 {Glucocorticoid therapy, response to} 614400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-340 gldc 2731 GLDC glycine encephalopathy DOID:9268 Glycine encephalopathy 605899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-4 gldn 342035 GLDN Lethal congenital contracture syndrome 11 617194 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040831-4 gle1 2733 GLE1 Congenital arthrogryposis with anterior horn cell disease 611890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040831-4 gle1 2733 GLE1 lethal congenital contracture syndrome 1 DOID:0060559 Lethal congenital contracture syndrome 1 253310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030321-1 gli1 2735 GLI1 Polydactyly, postaxial, type A8 618123 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030321-1 gli1 2735 GLI1 Polydactyly, preaxial I 174400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990706-8 gli2a 2736 GLI2 Culler-Jones syndrome DOID:0080328 Culler-Jones syndrome 615849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990706-8 gli2a 2736 GLI2 holoprosencephaly 9 DOID:0110873 Holoprosencephaly 9 610829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050523-1 gli2b 2736 GLI2 Culler-Jones syndrome DOID:0080328 Culler-Jones syndrome 615849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050523-1 gli2b 2736 GLI2 holoprosencephaly 9 DOID:0110873 Holoprosencephaly 9 610829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-162 gli3 2737 GLI3 {Hypothalamic hamartomas, somatic} 241800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-162 gli3 2737 GLI3 Greig cephalopolysyndactyly syndrome DOID:14761 Greig cephalopolysyndactyly syndrome 175700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-162 gli3 2737 GLI3 Pallister-Hall syndrome DOID:9248 Pallister-Hall syndrome 146510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-162 gli3 2737 GLI3 polydactyly DOID:1148 Polydactyly, postaxial, types A1 and B 174200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-162 gli3 2737 GLI3 polydactyly DOID:1148 Polydactyly, preaxial, type IV 174700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130102-1 glis2a 84662 GLIS2 nephronophthisis 7 DOID:0111116 Nephronophthisis 7 611498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-120 glis2b 84662 GLIS2 nephronophthisis 7 DOID:0111116 Nephronophthisis 7 611498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2232 glis3 169792 GLIS3 neonatal diabetes mellitus with congenital hypothyroidism DOID:0060638 Diabetes mellitus, neonatal, with congenital hypothyroidism 610199 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-120 glmna 11146 GLMN Glomuvenous malformations 138000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080723-14 glmnb 11146 GLMN Glomuvenous malformations 138000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991117-1 glra1 2741 GLRA1 hyperekplexia 1 DOID:0060696 Hyperekplexia 1 149400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010410-2 glrba 2743 GLRB hyperekplexia 2 DOID:0060697 Hyperekplexia 2 614619 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-106 glrbb 2743 GLRB hyperekplexia 2 DOID:0060697 Hyperekplexia 2 614619 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1957 glrx5 51218 GLRX5 Spasticity, childhood-onset, with hyperglycinemia 616859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1957 glrx5 51218 GLRX5 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 DOID:0080343 Anemia, sideroblastic, 3, pyridoxine-refractory 616860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050204-3 glsa 2744 GLS Epileptic encephalopathy, early infantile, 71 618328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050204-3 glsa 2744 GLS Global developmental delay, progressive ataxia, and elevated glutamine 618412 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050204-3 glsa 2744 GLS ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 618339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-550 glsb 2744 GLS Epileptic encephalopathy, early infantile, 71 618328 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-550 glsb 2744 GLS Global developmental delay, progressive ataxia, and elevated glutamine 618412 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-550 glsb 2744 GLS ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 618339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030114-2 glud1a 2746 GLUD1 familial hyperinsulinemic hypoglycemia 6 DOID:0070217 Hyperinsulinism-hyperammonemia syndrome 606762 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030828-1 glud1b 2746 GLUD1 familial hyperinsulinemic hypoglycemia 6 DOID:0070217 Hyperinsulinism-hyperammonemia syndrome 606762 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-688 glula 2752 GLUL Glutamine deficiency, congenital 610015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8417 glulb 2752 GLUL Glutamine deficiency, congenital 610015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-308 glyctk 132158 GLYCTK D-glyceric aciduria 220120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-373 gm2a 2760 GM2A GM2 gangliosidosis, AB variant DOID:4795 GM2-gangliosidosis, AB variant 272750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030429-30 gmnn 51053 GMNN Meier-Gorlin syndrome 6 DOID:0080517 Meier-Gorlin syndrome 6 616835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-37 gmppaa 29926 GMPPA Alacrima, achalasia, and mental retardation syndrome 615510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1550 gmppab 29926 GMPPA Alacrima, achalasia, and mental retardation syndrome 615510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-234 gmppb 29925 GMPPB autosomal recessive limb-girdle muscular dystrophy type 2T DOID:0110294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-234 gmppb 29925 GMPPB congenital muscular dystrophy-dystroglycanopathy A14 DOID:0111233 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-234 gmppb 29925 GMPPB muscular dystrophy-dystroglycanopathy DOID:0050588 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-597 gna11a 2767 GNA11 autosomal dominant hypocalcemia 2 DOID:0090108 Hypocalcemia, autosomal dominant 2 615361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-597 gna11a 2767 GNA11 familial hypocalciuric hypercalcemia 2 DOID:0060701 Hypocalciuric hypercalcemia, type II 145981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041121-9 gna11b 2767 GNA11 autosomal dominant hypocalcemia 2 DOID:0090108 Hypocalcemia, autosomal dominant 2 615361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041121-9 gna11b 2767 GNA11 familial hypocalciuric hypercalcemia 2 DOID:0060701 Hypocalciuric hypercalcemia, type II 145981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8365 gnai2a 2771 GNAI2 Pituitary ACTH-secreting adenoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8365 gnai2a 2771 GNAI2 Ventricular tachycardia, idiopathic 192605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5861 gnai2b 2771 GNAI2 Pituitary ACTH-secreting adenoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5861 gnai2b 2771 GNAI2 Ventricular tachycardia, idiopathic 192605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070713-6 gnai3 2773 GNAI3 Auriculocondylar syndrome 1 602483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-26 gnal 2774 GNAL dystonia 25 DOID:0090055 Dystonia 25 615073 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1757 gnao1a 2775 GNAO1 Neurodevelopmental disorder with involuntary movements 617493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1757 gnao1a 2775 GNAO1 early infantile epileptic encephalopathy 17 DOID:0080450 Epileptic encephalopathy, early infantile, 17 615473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1693 gnao1b 2775 GNAO1 Neurodevelopmental disorder with involuntary movements 617493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1693 gnao1b 2775 GNAO1 early infantile epileptic encephalopathy 17 DOID:0080450 Epileptic encephalopathy, early infantile, 17 615473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-25 gnaq 2776 GNAQ Capillary malformations, congenital, 1, somatic, mosaic 163000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-25 gnaq 2776 GNAQ Sturge-Weber syndrome, somatic, mosaic 185300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS ACTH-independent macronodular adrenal hyperplasia 219080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS Osseous heteroplasia, progressive 166350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS Pituitary adenoma 3, multiple types, somatic 617686 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS Albright's hereditary osteodystrophy DOID:0080053 Pseudohypoparathyroidism Ia 103580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS McCune Albright syndrome DOID:1858 McCune-Albright syndrome, somatic, mosaic 174800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS pseudohypoparathyroidism DOID:4184 Pseudohypoparathyroidism Ic 612462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS pseudohypoparathyroidism type IB DOID:0080222 Pseudohypoparathyroidism Ib 603233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090417-2 gnas 2778 GNAS pseudopseudohypoparathyroidism DOID:4183 Pseudopseudohypoparathyroidism 612463 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-11 gnat1 2779 GNAT1 congenital stationary night blindness 1G DOID:0110714 Night blindness, congenital stationary, type 1G 616389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-11 gnat1 2779 GNAT1 congenital stationary night blindness autosomal dominant 3 DOID:0110715 Night blindness, congenital stationary, autosomal dominant 3 610444 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-10 gnat2 2780 GNAT2 achromatopsia 4 DOID:0110010 Achromatopsia 4 613856 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-823 gnb1a 2782 GNB1 acute lymphocytic leukemia DOID:9952 Leukemia, acute lymphoblastic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-823 gnb1a 2782 GNB1 autosomal dominant non-syndromic intellectual disability 42 DOID:0070072 Mental retardation, autosomal dominant 42 616973 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2855 gnb1b 2782 GNB1 acute lymphocytic leukemia DOID:9952 Leukemia, acute lymphoblastic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2855 gnb1b 2782 GNB1 autosomal dominant non-syndromic intellectual disability 42 DOID:0070072 Mental retardation, autosomal dominant 42 616973 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-134 gnb3a 2784 GNB3 congenital stationary night blindness 1H DOID:0110866 Night blindness, congenital stationary, type 1H 617024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-134 gnb3a 2784 GNB3 essential hypertension DOID:10825 {Hypertension, essential, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2280 gnb3b 2784 GNB3 congenital stationary night blindness 1H DOID:0110866 Night blindness, congenital stationary, type 1H 617024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2280 gnb3b 2784 GNB3 essential hypertension DOID:10825 {Hypertension, essential, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091102-1 gnb4a 59345 GNB4 Charcot-Marie-Tooth disease dominant intermediate F DOID:0110206 Charcot-Marie-Tooth disease, dominant intermediate F 615185 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-167 gnb4b 59345 GNB4 Charcot-Marie-Tooth disease dominant intermediate F DOID:0110206 Charcot-Marie-Tooth disease, dominant intermediate F 615185 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-342 gnb5a 10681 GNB5 Intellectual developmental disorder with cardiac arrhythmia 617173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-342 gnb5a 10681 GNB5 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 617182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1712 gnb5b 10681 GNB5 Intellectual developmental disorder with cardiac arrhythmia 617173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1712 gnb5b 10681 GNB5 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 617182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1848 gne 10020 GNE inclusion body myositis DOID:3429 Nonaka myopathy 605820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1848 gne 10020 GNE sialuria DOID:3659 Sialuria 269921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040227-1 gnmt 27232 GNMT glycine N-methyltransferase deficiency DOID:0111037 Glycine N-methyltransferase deficiency 606664 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040618-4 gnpat 8443 GNPAT rhizomelic chondrodysplasia punctata type 2 DOID:0110852 Rhizomelic chondrodysplasia punctata, type 2 222765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4714 gnptab 79158 GNPTAB inclusion-cell disease DOID:0080070 Mucolipidosis II alpha/beta 252500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4714 gnptab 79158 GNPTAB pseudo-Hurler polydystrophy DOID:0080071 Mucolipidosis III alpha/beta 252600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-18 gnptg 84572 GNPTG pseudo-Hurler polydystrophy DOID:0080071 Mucolipidosis III gamma 252605 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-5 gnsa 2799 GNS mucopolysaccharidosis III DOID:12801 Mucopolysaccharidosis type IIID 252940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5846 gnsb 2799 GNS mucopolysaccharidosis III DOID:12801 Mucopolysaccharidosis type IIID 252940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1384 gorab 92344 GORAB geroderma osteodysplasticum DOID:0111266 Geroderma osteodysplasticum 231070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3290 gosr2 9570 GOSR2 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 6 614018 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2003 got1 2805 GOT1 Aspartate aminotransferase, serum level of, QTL1 614419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-898 gp1ba 2811 GP1BA {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} 258660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-898 gp1ba 2811 GP1BA Bernard-Soulier syndrome DOID:2217 Bernard-Soulier syndrome, type A1 (recessive) 231200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-898 gp1ba 2811 GP1BA Bernard-Soulier syndrome type A2 DOID:0111059 Bernard-Soulier syndrome, type A2 (dominant) 153670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-898 gp1ba 2811 GP1BA platelet-type bleeding disorder 3 DOID:0111056 von Willebrand disease, platelet-type 177820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-406 gp1bb 2812 GP1BB Bernard-Soulier syndrome DOID:2217 Bernard-Soulier syndrome, type B 231200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-406 gp1bb 2812 GP1BB Bernard-Soulier syndrome DOID:2217 Giant platelet disorder, isolated 231200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-5 gp9 2815 GP9 Bernard-Soulier syndrome DOID:2217 Bernard-Soulier syndrome, type C 231200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-587 gpaa1 8733 GPAA1 Glycosylphosphatidylinositol biosynthesis defect 15 617810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031212-1 gpc3 2719 GPC3 nephroblastoma DOID:2154 Wilms tumor, somatic 194070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031212-1 gpc3 2719 GPC3 Simpson-Golabi-Behmel syndrome type 1 DOID:0060248 Simpson-Golabi-Behmel syndrome, type 1 312870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011119-1 gpc4 2239 GPC4 Keipert syndrome 301026 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-15 gpc6a 10082 GPC6 omodysplasia DOID:0060288 Omodysplasia 1 258315 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130515-2 gpc6b 10082 GPC6 omodysplasia DOID:0060288 Omodysplasia 1 258315 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-209 gpd1a 2819 GPD1 Hypertriglyceridemia, transient infantile 614480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3906 gpd1b 2819 GPD1 Hypertriglyceridemia, transient infantile 614480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-220 gpd1l 23171 GPD1L Brugada syndrome 2 DOID:0110219 Brugada syndrome 2 611777 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4869 gpd2 2820 GPD2 type 2 diabetes mellitus DOID:9352 {Diabetes, type 2, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110127-3 gphna 10243 GPHN molybdenum cofactor deficiency type C DOID:0111166 Molybdenum cofactor deficiency C 615501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-4 gphnb 10243 GPHN molybdenum cofactor deficiency type C DOID:0111166 Molybdenum cofactor deficiency C 615501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020513-2 gpia 2821 GPI congenital nonspherocytic hemolytic anemia DOID:2861 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020513-3 gpib 2821 GPI congenital nonspherocytic hemolytic anemia DOID:2861 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-106 gpnmb 10457 GPNMB Amyloidosis, primary localized cutaneous, 3 617920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070914-1 gpr101 83550 GPR101 Pituitary adenoma 2, GH-secreting 300943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1476 gpr143 4935 GPR143 congenital nystagmus DOID:9649 Nystagmus 6, congenital, X-linked 300814 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1476 gpr143 4935 GPR143 ocular albinism DOID:0050633 Ocular albinism, type I, Nettleship-Falls type 300500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120229-1 gpr179 440435 GPR179 congenital stationary night blindness 1E DOID:0110869 Night blindness, congenital stationary (complete), 1E, autosomal recessive 614565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100419-2 gpr68 8111 GPR68 Amelogenesis imperfecta, hypomaturation type, IIA6 617217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8265 gpr88 54112 GPR88 ?Chorea, childhood-onset, with psychomotor retardation 616939 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1169 gpsm2 29899 GPSM2 Chudley-McCullough syndrome 604213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030729-8 gpt2 84706 GPT2 Mental retardation, autosomal recessive 49 616281 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-11 gpt2l 84706 GPT2 Mental retardation, autosomal recessive 49 616281 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030410-1 gpx1a 2876 GPX1 Hemolytic anemia due to glutathione peroxidase deficiency 614164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-60 gpx1b 2876 GPX1 Hemolytic anemia due to glutathione peroxidase deficiency 614164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030410-2 gpx4a 2879 GPX4 Spondylometaphyseal dysplasia, Sedaghatian type 250220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030410-3 gpx4b 2879 GPX4 Spondylometaphyseal dysplasia, Sedaghatian type 250220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-347 grapa 10750 GRAP Deafness, autosomal recessive 114 618456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-4 grapb 10750 GRAP Deafness, autosomal recessive 114 618456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2279 grcc10 113246 C12orf57 Temtamy syndrome 218340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4022 greb1l 80000 GREB1L Renal hypodysplasia/aplasia 3 617805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-498 grem2a 64388 GREM2 Tooth agenesis, selective, 9 617275 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030911-9 grem2b 64388 GREM2 Tooth agenesis, selective, 9 617275 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-123 grhl2a 79977 GRHL2 Corneal dystrophy, posterior polymorphous, 4 618031 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-123 grhl2a 79977 GRHL2 Ectodermal dysplasia/short stature syndrome 616029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-123 grhl2a 79977 GRHL2 autosomal dominant nonsyndromic deafness 28 DOID:0110557 Deafness, autosomal dominant 28 608641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-719 grhl2b 79977 GRHL2 Corneal dystrophy, posterior polymorphous, 4 618031 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-719 grhl2b 79977 GRHL2 Ectodermal dysplasia/short stature syndrome 616029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-719 grhl2b 79977 GRHL2 autosomal dominant nonsyndromic deafness 28 DOID:0110557 Deafness, autosomal dominant 28 608641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9854 grhl3 57822 GRHL3 Van der Woude syndrome DOID:0060239 Van der Woude syndrome 2 606713 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-230 grhpra 9380 GRHPR primary hyperoxaluria DOID:2977 Hyperoxaluria, primary, type II 260000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1847 grhprb 9380 GRHPR primary hyperoxaluria DOID:2977 Hyperoxaluria, primary, type II 260000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020125-5 gria3a 2892 GRIA3 syndromic X-linked intellectual disability 94 DOID:0060823 Mental retardation, X-linked 94 300699 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-53 gria3b 2892 GRIA3 syndromic X-linked intellectual disability 94 DOID:0060823 Mental retardation, X-linked 94 300699 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020125-7 gria4a 2893 GRIA4 Neurodevelopmental disorder with or without seizures and gait abnormalities 617864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8013 gria4b 2893 GRIA4 Neurodevelopmental disorder with or without seizures and gait abnormalities 617864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040913-1 grid2 2895 GRID2 autosomal recessive spinocerebellar ataxia 18 DOID:0080042 Spinocerebellar ataxia, autosomal recessive 18 616204 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080414-1 grik2 2898 GRIK2 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive, 6 611092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051202-1 grin1a 2902 GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051202-1 grin1a 2902 GRIN1 autosomal dominant non-syndromic intellectual disability 8 DOID:0070038 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051202-2 grin1b 2902 GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051202-2 grin1b 2902 GRIN1 autosomal dominant non-syndromic intellectual disability 8 DOID:0070038 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-129 grin2aa 2903 GRIN2A Landau-Kleffner syndrome DOID:2538 Epilepsy, focal, with speech disorder and with or without mental retardation 245570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-223 grin2ab 2903 GRIN2A Landau-Kleffner syndrome DOID:2538 Epilepsy, focal, with speech disorder and with or without mental retardation 245570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-2 grin2ba 2904 GRIN2B autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 Mental retardation, autosomal dominant 6 613970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-2 grin2ba 2904 GRIN2B early infantile epileptic encephalopathy 27 DOID:0080444 Epileptic encephalopathy, early infantile, 27 616139 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-27 grin2bb 2904 GRIN2B autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 Mental retardation, autosomal dominant 6 613970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-27 grin2bb 2904 GRIN2B early infantile epileptic encephalopathy 27 DOID:0080444 Epileptic encephalopathy, early infantile, 27 616139 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-124 grin2da 2906 GRIN2D early infantile epileptic encephalopathy 46 DOID:0080456 Epileptic encephalopathy, early infantile, 46 617162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100920-7 grin2db 2906 GRIN2D early infantile epileptic encephalopathy 46 DOID:0080456 Epileptic encephalopathy, early infantile, 46 617162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-125 grip1 23426 GRIP1 Fraser syndrome 3 617667 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050823-1 grk1a 6011 GRK1 Oguchi disease-2 DOID:0110713 Oguchi disease-2 613411 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7893 grm1a 2911 GRM1 autosomal recessive spinocerebellar ataxia 13 DOID:0080062 Spinocerebellar ataxia, autosomal recessive 13 614831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7893 grm1a 2911 GRM1 spinocerebellar ataxia 44 DOID:0080286 Spinocerebellar ataxia 44 617691 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-3 grm1b 2911 GRM1 autosomal recessive spinocerebellar ataxia 13 DOID:0080062 Spinocerebellar ataxia, autosomal recessive 13 614831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-3 grm1b 2911 GRM1 spinocerebellar ataxia 44 DOID:0080286 Spinocerebellar ataxia 44 617691 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060208-1 grm6a 2916 GRM6 congenital stationary night blindness 1B DOID:0110865 Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021120-2 grm6b 2916 GRM6 congenital stationary night blindness 1B DOID:0110865 Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8434 grna 2896 GRN Grn-related frontotemporal lobar degeneration with Tdp43 inclusions DOID:0060672 Aphasia, primary progressive 607485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8434 grna 2896 GRN Grn-related frontotemporal lobar degeneration with Tdp43 inclusions DOID:0060672 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 607485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8434 grna 2896 GRN neuronal ceroid lipofuscinosis 11 DOID:0110732 Ceroid lipofuscinosis, neuronal, 11 614706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7393 grnb 2896 GRN Grn-related frontotemporal lobar degeneration with Tdp43 inclusions DOID:0060672 Aphasia, primary progressive 607485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7393 grnb 2896 GRN Grn-related frontotemporal lobar degeneration with Tdp43 inclusions DOID:0060672 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 607485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7393 grnb 2896 GRN neuronal ceroid lipofuscinosis 11 DOID:0110732 Ceroid lipofuscinosis, neuronal, 11 614706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160113-42 grxcr1a 389207 GRXCR1 autosomal recessive nonsyndromic deafness 25 DOID:0110483 Deafness, autosomal recessive 25 613285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-166 grxcr1b 389207 GRXCR1 autosomal recessive nonsyndromic deafness 25 DOID:0110483 Deafness, autosomal recessive 25 613285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980528-2060 gsc 145258 GSC Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-186 gsdmea 1687 GSDME autosomal dominant nonsyndromic deafness 5 DOID:0110575 Deafness, autosomal dominant 5 600994 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7662 gsdmeb 1687 GSDME autosomal dominant nonsyndromic deafness 5 DOID:0110575 Deafness, autosomal dominant 5 600994 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9653 gsna 2934 GSN Finnish type amyloidosis DOID:0050637 Amyloidosis, Finnish type 105120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8567 gsnb 2934 GSN Finnish type amyloidosis DOID:0050637 Amyloidosis, Finnish type 105120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-116 gsr 2936 GSR Hemolytic anemia due to glutathione reductase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-208 gss 2937 GSS Glutathione synthetase deficiency 266130 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-208 gss 2937 GSS Hemolytic anemia due to glutathione synthetase deficiency 231900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-184 gstz1 2954 GSTZ1 [Maleylacetoacetate isomerase deficiency] 617596 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6794 gtf2e2 2961 GTF2E2 Trichothiodystrophy 6, nonphotosensitive 616943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-144 gtf2h5 404672 GTF2H5 Trichothiodystrophy 3, photosensitive 616395 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170606-1 gtpbp2a 54676 GTPBP2 Jaberi-Elahi syndrome 617988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-373 gtpbp2b 54676 GTPBP2 Jaberi-Elahi syndrome 617988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-335 gtpbp3 84705 GTPBP3 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 23 616198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-5 guca1a 2978 GUCA1A cone-rod dystrophy 14 DOID:0080314 Cone dystrophy-3 602093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-5 guca1a 2978 GUCA1A cone-rod dystrophy 14 DOID:0080314 Cone-rod dystrophy 14 602093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-6 guca1b 2979 GUCA1B retinitis pigmentosa 48 DOID:0110382 Retinitis pigmentosa 48 613827 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1577 guca1e 2978 GUCA1A cone-rod dystrophy 14 DOID:0080314 Cone dystrophy-3 602093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1577 guca1e 2978 GUCA1A cone-rod dystrophy 14 DOID:0080314 Cone-rod dystrophy 14 602093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-230 gucy1a1 2982 GUCY1A1 Moyamoya disease DOID:13099 Moyamoya 6 with achalasia 615750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-67 gucy2c 2984 GUCY2C Meconium ileus 614665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-67 gucy2c 2984 GUCY2C congenital diarrhea 6 DOID:0060780 Diarrhea 6 614616 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-9 gucy2d 3000 GUCY2D Night blindness, congenital stationary, type 1I 618555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-9 gucy2d 3000 GUCY2D choroidal sclerosis DOID:980 ?Choroidal dystrophy, central areolar 1 215500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-9 gucy2d 3000 GUCY2D cone-rod dystrophy 6 DOID:0111011 Cone-rod dystrophy 6 601777 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-9 gucy2d 3000 GUCY2D Leber congenital amaurosis 1 DOID:0110078 Leber congenital amaurosis 1 204000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-7 gucy2f 3000 GUCY2D Night blindness, congenital stationary, type 1I 618555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-7 gucy2f 3000 GUCY2D choroidal sclerosis DOID:980 ?Choroidal dystrophy, central areolar 1 215500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-7 gucy2f 3000 GUCY2D cone-rod dystrophy 6 DOID:0111011 Cone-rod dystrophy 6 601777 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-7 gucy2f 3000 GUCY2D Leber congenital amaurosis 1 DOID:0110078 Leber congenital amaurosis 1 204000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4289 guf1 60558 GUF1 early infantile epileptic encephalopathy 40 DOID:0080427 ?Epileptic encephalopathy, early infantile, 40 617065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-256 gusb 2990 GUSB Sly syndrome DOID:12803 Mucopolysaccharidosis VII 253220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2910 gyg1a 2992 GYG1 Polyglucosan body myopathy 2 616199 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2910 gyg1a 2992 GYG1 glycogen storage disease XV DOID:0050579 ?Glycogen storage disease XV 613507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-30 gyg1b 2992 GYG1 Polyglucosan body myopathy 2 616199 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-30 gyg1b 2992 GYG1 glycogen storage disease XV DOID:0050579 ?Glycogen storage disease XV 613507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7930 gypc 2995 GYPC [Blood group, Gerbich] 616089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7930 gypc 2995 GYPC {Malaria, resistance to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1243 gys1 2997 GYS1 Glycogen storage disease 0, muscle 611556 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-31 gys2 2998 GYS2 Glycogen storage disease 0, liver 240600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130731-1 gzf1 64412 GZF1 Joint laxity, short stature, and myopia 617662 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-60 h6pd 9563 H6PD cortisone reductase deficiency 1 DOID:0090141 Cortisone reductase deficiency 1 604931 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-89 haao 23498 HAAO Vertebral, cardiac, renal, and limb defects syndrome 1 617660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4721 habp2 3026 HABP2 {?Thyroid cancer, nonmedullary, 5} 616535 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4721 habp2 3026 HABP2 thrombophilia DOID:2452 {Venous thromboembolism, susceptibility to} 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-52 hace1 57531 HACE1 Spastic paraplegia and psychomotor retardation with or without seizures 616756 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-261 hadh 3033 HADH 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-261 hadh 3033 HADH familial hyperinsulinemic hypoglycemia 4 DOID:0070215 Hyperinsulinemic hypoglycemia, familial, 4 609975 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031222-5 hadhaa 3030 HADHA Fatty liver, acute, of pregnancy 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031222-5 hadhaa 3030 HADHA HELLP syndrome, maternal, of pregnancy 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031222-5 hadhaa 3030 HADHA LCHAD deficiency 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031222-5 hadhaa 3030 HADHA mitochondrial trifunctional protein deficiency DOID:0111277 Trifunctional protein deficiency 609015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-204 hadhab 3030 HADHA Fatty liver, acute, of pregnancy 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-204 hadhab 3030 HADHA HELLP syndrome, maternal, of pregnancy 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-204 hadhab 3030 HADHA LCHAD deficiency 609016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-204 hadhab 3030 HADHA mitochondrial trifunctional protein deficiency DOID:0111277 Trifunctional protein deficiency 609015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8550 hadhb 3032 HADHB mitochondrial trifunctional protein deficiency DOID:0111277 Trifunctional protein deficiency 609015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8921 hagh 3029 HAGH [Glyoxalase II deficiency] 614033 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-5 hal 3034 HAL histidinemia DOID:0060168 [Histidinemia] 235800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050726-1 hamp 57817 HAMP hemochromatosis type 2B DOID:0111032 Hemochromatosis, type 2B 613313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 3035 HARS1 Charcot-Marie-Tooth disease, axonal type 2W DOID:0110162 Charcot-Marie-Tooth disease, axonal, type 2W 616625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 3035 HARS1 Perrault syndrome DOID:0050857 ?Perrault syndrome 2 614926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 3035 HARS1 Usher syndrome type 3B DOID:0110842 Usher syndrome type 3B 614504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 23438 HARS2 Charcot-Marie-Tooth disease, axonal type 2W DOID:0110162 Charcot-Marie-Tooth disease, axonal, type 2W 616625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 23438 HARS2 Perrault syndrome DOID:0050857 ?Perrault syndrome 2 614926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-152 hars 23438 HARS2 Usher syndrome type 3B DOID:0110842 Usher syndrome type 3B 614504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-20 havcr2 84868 HAVCR2 T-cell lymphoma, subcutaneous panniculitis-like 618398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-26 hax1 10456 HAX1 Neutropenia, severe congenital 3, autosomal recessive 610738 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-79 hbaa1 3039 HBA1 Erythrocytosis, 7 617981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-79 hbaa1 3039 HBA1 Heinz body anemias, alpha- 140700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-79 hbaa1 3039 HBA1 Methemoglobinemia, alpha type 617973 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-79 hbaa1 3039 HBA1 alpha thalassemia DOID:1099 Thalassemias, alpha- 604131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-79 hbaa1 3039 HBA1 hemoglobin H disease DOID:0110031 Hemoglobin H disease, nondeletional 613978 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-80 hbae1.1 3039 HBA1 Erythrocytosis, 7 617981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-80 hbae1.1 3039 HBA1 Heinz body anemias, alpha- 140700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-80 hbae1.1 3039 HBA1 Methemoglobinemia, alpha type 617973 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-80 hbae1.1 3039 HBA1 alpha thalassemia DOID:1099 Thalassemias, alpha- 604131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-80 hbae1.1 3039 HBA1 hemoglobin H disease DOID:0110031 Hemoglobin H disease, nondeletional 613978 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-119 hbegfa 1839 HBEGF {Diphtheria, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070820-6 hbegfb 1839 HBEGF {Diphtheria, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-202 hccsa.1 3052 HCCS microphthalmia DOID:10629 Linear skin defects with multiple congenital anomalies 1 309801 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090501-4 hccsa.2 3052 HCCS microphthalmia DOID:10629 Linear skin defects with multiple congenital anomalies 1 309801 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000607-78 hccsb 3052 HCCS microphthalmia DOID:10629 Linear skin defects with multiple congenital anomalies 1 309801 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-10 hcfc1a 3054 HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2411 hcfc1b 3054 HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110520-1 hcn1 348980 HCN1 early infantile epileptic encephalopathy 24 DOID:0080429 Epileptic encephalopathy, early infantile, 24 615871 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110520-1 hcn1 348980 HCN1 generalized epilepsy with febrile seizures plus 10 DOID:0111296 Generalized epilepsy with febrile seizures plus, type 10 618482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-360 hcn4 10021 HCN4 Brugada syndrome 8 DOID:0110225 Brugada syndrome 8 613123 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-360 hcn4 10021 HCN4 sick sinus syndrome DOID:13884 Sick sinus syndrome 2 163800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040324-1 hcrt 3060 HCRT narcolepsy DOID:8986 ?Narcolepsy 1 161400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3232 hdac6 10013 HDAC6 ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2772 hdac8 55869 HDAC8 Cornelia de Lange syndrome 5 DOID:0080509 Cornelia de Lange syndrome 5 300882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080102-5 hdc 3067 HDC Gilles de la Tourette syndrome DOID:11119 {Gilles de la Tourette syndrome, susceptibility to} 137580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-22 hecw2a 57520 HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101001-3 hecw2b 57520 HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9923 hells 3070 HELLS immunodeficiency-centromeric instability-facial anomalies syndrome 4 DOID:0090011 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 616911 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-198 hepacama 220296 HEPACAM megalencephalic leukoencephalopathy with subcortical cysts 2A DOID:0080318 Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-198 hepacama 220296 HEPACAM megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation DOID:0080317 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 613926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141223-1 hepacamb 220296 HEPACAM megalencephalic leukoencephalopathy with subcortical cysts 2A DOID:0080318 Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141223-1 hepacamb 220296 HEPACAM megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation DOID:0080317 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 613926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070801-4 hephl1a 341208 HEPHL1 ?Abnormal hair, joint laxity, and developmental delay 261990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-388 hephl1b 341208 HEPHL1 ?Abnormal hair, joint laxity, and developmental delay 261990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-125 her1 84667 HES7 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 4, autosomal recessive 613686 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-90 her5 84667 HES7 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 4, autosomal recessive 613686 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8542 herc1 8925 HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation 617011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-6 herc2 8924 HERC2 [Skin/hair/eye pigmentation 1, blond/brown hair] 227220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-6 herc2 8924 HERC2 [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-6 herc2 8924 HERC2 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 38 615516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-130 hesx1 8820 HESX1 septooptic dysplasia DOID:0060857 Growth hormone deficiency with pituitary anomalies 182230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-130 hesx1 8820 HESX1 septooptic dysplasia DOID:0060857 Pituitary hormone deficiency, combined, 5 182230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-130 hesx1 8820 HESX1 septooptic dysplasia DOID:0060857 Septooptic dysplasia 182230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-283 hexa 3073 HEXA Tay-Sachs disease DOID:3320 GM2-gangliosidosis, several forms 272800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-283 hexa 3073 HEXA Tay-Sachs disease DOID:3320 [Hex A pseudodeficiency] 272800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-283 hexa 3073 HEXA Tay-Sachs disease DOID:3320 Tay-Sachs disease 272800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2333 hexb 3074 HEXB Sandhoff disease DOID:3323 Sandhoff disease, infantile, juvenile, and adult forms 268800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-43 hfm1 164045 HFM1 premature ovarian failure DOID:5426 Premature ovarian failure 9 615724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020802-5 hgd 3081 HGD alkaptonuria DOID:9270 Alkaptonuria 203500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-2 hgfa 3082 HGF autosomal recessive nonsyndromic deafness 39 DOID:0110497 Deafness, autosomal recessive 39 608265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-3 hgfb 3082 HGF autosomal recessive nonsyndromic deafness 39 DOID:0110497 Deafness, autosomal recessive 39 608265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-144 hgsnat 138050 HGSNAT mucopolysaccharidosis III DOID:12801 Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-144 hgsnat 138050 HGSNAT retinitis pigmentosa 73 DOID:0110389 Retinitis pigmentosa 73 616544 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-29 hibch 26275 HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-34 hikeshi 51501 HIKESHI hypomyelinating leukodystrophy 13 DOID:0060795 Leukodystrophy, hypomyelinating, 13 616881 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-8 hint1 3094 HINT1 Gamstorp-Wohlfart syndrome DOID:0050526 Neuromyotonia and axonal neuropathy, autosomal recessive 137200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-354 hivep2a 3097 HIVEP2 autosomal dominant non-syndromic intellectual disability 43 DOID:0070073 Mental retardation, autosomal dominant 43 616977 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-562 hivep2b 3097 HIVEP2 autosomal dominant non-syndromic intellectual disability 43 DOID:0070073 Mental retardation, autosomal dominant 43 616977 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-651 hjv 148738 HJV hemochromatosis type 2A DOID:0111027 Hemochromatosis, type 2A 602390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2848 hk1 3098 HK1 Hemolytic anemia due to hexokinase deficiency 235700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2848 hk1 3098 HK1 Neurodevelopmental disorder with visual defects and brain anomalies 618547 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2848 hk1 3098 HK1 Retinitis pigmentosa 79 617460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2848 hk1 3098 HK1 Charcot-Marie-Tooth disease type 4G DOID:0110196 Neuropathy, hereditary motor and sensory, Russe type 605285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5333 hlcs 3141 HLCS holocarboxylase synthetase deficiency DOID:859 Holocarboxylase synthetase deficiency 253270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1375 hmbsa 3145 HMBS acute intermittent porphyria DOID:3890 Porphyria, acute intermittent 176000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1375 hmbsa 3145 HMBS acute intermittent porphyria DOID:3890 Porphyria, acute intermittent, nonerythroid variant 176000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-491 hmbsb 3145 HMBS acute intermittent porphyria DOID:3890 Porphyria, acute intermittent 176000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-491 hmbsb 3145 HMBS acute intermittent porphyria DOID:3890 Porphyria, acute intermittent, nonerythroid variant 176000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-322 hmcn1 83872 HMCN1 age related macular degeneration 1 DOID:0110014 {Macular degeneration, age-related, 1} 603075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010502-1 hmga1a 3159 HMGA1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-204 hmga1b 3159 HMGA1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3148 hmga2 8091 HMGA2 uterine fibroid DOID:13223 Leiomyoma, uterine, somatic 150699 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050428-1 hmgb3a 3149 HMGB3 ?Microphthalmia, syndromic 13 300915 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-290 hmgb3b 3149 HMGB3 ?Microphthalmia, syndromic 13 300915 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-958 hmgcl 3155 HMGCL HMG-CoA lyase deficiency 246450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040401-2 hmgcra 3156 HMGCR [Low density lipoprotein cholesterol level QTL 3] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040401-2 hmgcra 3156 HMGCR [Statins, attenuated cholesterol lowering by] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051108-1 hmgcrb 3156 HMGCR [Low density lipoprotein cholesterol level QTL 3] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051108-1 hmgcrb 3156 HMGCR [Statins, attenuated cholesterol lowering by] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-731 hmmr 3161 HMMR breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3102 hmox1a 3162 HMOX1 Heme oxygenase-1 deficiency 614034 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3102 hmox1a 3162 HMOX1 chronic obstructive pulmonary disease DOID:3083 {Pulmonary disease, chronic obstructive, susceptibility to} 606963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1807 hmox1b 3162 HMOX1 Heme oxygenase-1 deficiency 614034 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1807 hmox1b 3162 HMOX1 chronic obstructive pulmonary disease DOID:3083 {Pulmonary disease, chronic obstructive, susceptibility to} 606963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-54 hmx1 3166 HMX1 oculoauricular syndrome DOID:0060482 Oculoauricular syndrome 612109 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A Hepatic adenoma, somatic 142330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A maturity-onset diabetes of the young type 3 DOID:0111102 MODY, type III 600496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A nonpapillary renal cell carcinoma DOID:0050387 Renal cell carcinoma 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A type 1 diabetes mellitus DOID:9744 {Diabetes mellitus, insulin-dependent} 222100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A type 1 diabetes mellitus 20 DOID:0110757 Diabetes mellitus, insulin-dependent, 20 612520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-12 hnf1a 6927 HNF1A type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, 2} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020104-1 hnf1ba 6928 HNF1B maturity-onset diabetes of the young type 5 DOID:0111101 Renal cysts and diabetes syndrome 137920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020104-1 hnf1ba 6928 HNF1B nonpapillary renal cell carcinoma DOID:0050387 {Renal cell carcinoma} 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020104-1 hnf1ba 6928 HNF1B type 2 diabetes mellitus DOID:9352 Diabetes mellitus, noninsulin-dependent 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3003 hnf1bb 6928 HNF1B maturity-onset diabetes of the young type 5 DOID:0111101 Renal cysts and diabetes syndrome 137920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3003 hnf1bb 6928 HNF1B nonpapillary renal cell carcinoma DOID:0050387 {Renal cell carcinoma} 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3003 hnf1bb 6928 HNF1B type 2 diabetes mellitus DOID:9352 Diabetes mellitus, noninsulin-dependent 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1077 hnf4a 3172 HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1077 hnf4a 3172 HNF4A maturity-onset diabetes of the young type 1 DOID:0111099 MODY, type I 125850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1077 hnf4a 3172 HNF4A type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-157 hnmt 3176 HNMT {Asthma, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-157 hnmt 3176 HNMT Mental retardation, autosomal recessive 51 616739 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1546 hnrnpa1a 3178 HNRNPA1 amyotrophic lateral sclerosis type 20 DOID:0060211 Amyotrophic lateral sclerosis 20 615426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1546 hnrnpa1a 3178 HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID:0050881 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 615424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-14 hnrnpa1b 3178 HNRNPA1 amyotrophic lateral sclerosis type 20 DOID:0060211 Amyotrophic lateral sclerosis 20 615426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-14 hnrnpa1b 3178 HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID:0050881 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 615424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2717 hnrnpdl 9987 HNRNPDL autosomal dominant limb-girdle muscular dystrophy type 3 DOID:0110306 Muscular dystrophy, limb-girdle, autosomal dominant 3 609115 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1926 hnrnpk 3190 HNRNPK Au-Kline syndrome 616580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3731 hnrnpua 3192 HNRNPU early infantile epileptic encephalopathy 54 DOID:0080418 Epileptic encephalopathy, early infantile, 54 617391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6422 hnrnpub 3192 HNRNPU early infantile epileptic encephalopathy 54 DOID:0080418 Epileptic encephalopathy, early infantile, 54 617391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2242 hoga1 112817 HOGA1 primary hyperoxaluria DOID:2977 Hyperoxaluria, primary, type III 613616 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-417 homer2 9455 HOMER2 autosomal dominant nonsyndromic deafness 68 DOID:0110589 ?Deafness, autosomal dominant 68 616707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000823-8 hoxa11a 3207 HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-4 hoxa11b 3207 HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-5 hoxa13a 3209 HOXA13 ?Guttmacher syndrome 176305 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-5 hoxa13a 3209 HOXA13 hand-foot-genital syndrome DOID:0060739 Hand-foot-uterus syndrome 140000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-365 hoxa13b 3209 HOXA13 ?Guttmacher syndrome 176305 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-365 hoxa13b 3209 HOXA13 hand-foot-genital syndrome DOID:0060739 Hand-foot-uterus syndrome 140000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000823-5 hoxa1a 3198 HOXA1 Athabaskan brainstem dysgenesis syndrome DOID:0050682 Athabaskan brainstem dysgenesis syndrome 601536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000823-5 hoxa1a 3198 HOXA1 Athabaskan brainstem dysgenesis syndrome DOID:0050682 Bosley-Salih-Alorainy syndrome 601536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-98 hoxa2b 3199 HOXA2 ?Microtia, hearing impairment, and cleft palate (AR) 612290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-98 hoxa2b 3199 HOXA2 Microtia with or without hearing impairment (AD) 612290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050812-1 hoxb13a 10481 HOXB13 prostate cancer DOID:10283 {Prostate cancer, hereditary, 9} 610997 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-101 hoxb1a 3211 HOXB1 Facial paresis, hereditary congenital, 3 614744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-290 hoxb1b 3211 HOXB1 Facial paresis, hereditary congenital, 3 614744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000822-4 hoxc13a 3229 HOXC13 Ectodermal dysplasia 9, hair/nail type 614931 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000822-5 hoxc13b 3229 HOXC13 Ectodermal dysplasia 9, hair/nail type 614931 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-116 hoxd10a 3236 HOXD10 Charcot-Marie-Tooth disease, foot deformity of 192950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-116 hoxd10a 3236 HOXD10 Vertical talus, congenital 192950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-119 hoxd13a 3239 HOXD13 brachydactyly-syndactyly syndrome DOID:0050689 ?Brachydactyly-syndactyly syndrome 610713 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-119 hoxd13a 3239 HOXD13 brachydactyly type D DOID:0110971 Brachydactyly, type D 113200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-119 hoxd13a 3239 HOXD13 brachydactyly type E1 DOID:0110972 Brachydactyly, type E 113300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-119 hoxd13a 3239 HOXD13 syndactyly DOID:11193 Syndactyly, type V 186300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-119 hoxd13a 3239 HOXD13 synpolydactyly DOID:0060242 Synpolydactyly 1 186000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1259 hp 3240 HP [Anhaptoglobinemia] 614081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1259 hp 3240 HP [Hypohaptoglobinemia] 614081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1683 hpca 3208 HPCA torsion dystonia 2 DOID:0090038 Dystonia 2, torsion, autosomal recessive 224500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-62 hpdb 3242 HPD Hawkinsinuria 140350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-62 hpdb 3242 HPD tyrosinemia type III DOID:0050727 Tyrosinemia, type III 276710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080728-2 hpgd 3248 HPGD Digital clubbing, isolated congenital 119900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080728-2 hpgd 3248 HPGD primary hypertrophic osteoarthropathy DOID:14283 Cranioosteoarthropathy 259100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080728-2 hpgd 3248 HPGD primary hypertrophic osteoarthropathy DOID:14283 Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1918 hprt1 3251 HPRT1 HPRT-related gout 300323 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1918 hprt1 3251 HPRT1 Lesch-Nyhan syndrome DOID:1919 Lesch-Nyhan syndrome 300322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-152 hps1 3257 HPS1 Hermansky-Pudlak syndrome 1 DOID:0060539 Hermansky-Pudlak syndrome 1 203300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-115 hps3 84343 HPS3 Hermansky-Pudlak syndrome 3 DOID:0060541 Hermansky-Pudlak syndrome 3 614072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1068 hps4 89781 HPS4 Hermansky-Pudlak syndrome 4 DOID:0060542 Hermansky-Pudlak syndrome 4 614073 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-80 hps5 11234 HPS5 Hermansky-Pudlak syndrome 5 DOID:0060543 Hermansky-Pudlak syndrome 5 614074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100927-1 hps6 79803 HPS6 Hermansky-Pudlak syndrome 6 DOID:0060544 Hermansky-Pudlak syndrome 6 614075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-378 hpse2 60495 HPSE2 urofacial syndrome DOID:0050816 Urofacial syndrome 1 236730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS Spitz nevus or nevus spilus, somatic 137550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS Costello syndrome DOID:0050469 Congenital myopathy with excess of muscle spindles 218040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS Costello syndrome DOID:0050469 Costello syndrome 218040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS epidermal nevus DOID:0111162 Nevus sebaceous or woolly hair nevus, somatic 162900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS thyroid gland follicular carcinoma DOID:3962 Thyroid carcinoma, follicular, somatic 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-95 hrasa 3265 HRAS urinary bladder cancer DOID:11054 Bladder cancer, somatic 109800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS Spitz nevus or nevus spilus, somatic 137550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS Costello syndrome DOID:0050469 Congenital myopathy with excess of muscle spindles 218040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS Costello syndrome DOID:0050469 Costello syndrome 218040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS epidermal nevus DOID:0111162 Nevus sebaceous or woolly hair nevus, somatic 162900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS thyroid gland follicular carcinoma DOID:3962 Thyroid carcinoma, follicular, somatic 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-466 hrasb 3265 HRAS urinary bladder cancer DOID:11054 Bladder cancer, somatic 109800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050524-1 hs6st1a 9394 HS6ST1 hypogonadotropic hypogonadism 15 with or without anosmia DOID:0090075 {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-2 hs6st1b 9394 HS6ST1 hypogonadotropic hypogonadism 15 with or without anosmia DOID:0090075 {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-14 hs6st2 90161 HS6ST2 ?Paganini-Miozzo syndrome 301025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6030 hsd11b2 3291 HSD11B2 apparent mineralocorticoid excess syndrome DOID:4367 Apparent mineralocorticoid excess 218030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-201 hsd17b10 3028 HSD17B10 syndromic X-linked intellectual disability type 10 DOID:0060810 HSD10 mitochondrial disease 300438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1339 hsd17b3 3293 HSD17B3 Pseudohermaphroditism, male, with gynecomastia 264300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040421-1 hsd17b4 3295 HSD17B4 D-bifunctional protein deficiency DOID:0090031 D-bifunctional protein deficiency 261515 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040421-1 hsd17b4 3295 HSD17B4 Perrault syndrome DOID:0050857 Perrault syndrome 1 233400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5673 hsd3b7 80270 HSD3B7 congenital bile acid synthesis defect 1 DOID:0111071 Bile acid synthesis defect, congenital, 1 607765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-18 hsf4 3299 HSF4 cataract 5 multiple types DOID:0110255 Cataract 5, multiple types 116800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030828-12 hspa9 3313 HSPA9 Even-plus syndrome 616854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030828-12 hspa9 3313 HSPA9 autosomal dominant sideroblastic anemia 4 DOID:0060335 Anemia, sideroblastic, 4 182170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-4 hspb1 3315 HSPB1 Charcot-Marie-Tooth disease axonal type 2F DOID:0110163 Charcot-Marie-Tooth disease, axonal, type 2F 606595 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-4 hspb1 3315 HSPB1 distal hereditary motor neuropathy type 2B DOID:0111207 Neuropathy, distal hereditary motor, type IIB 608634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-338 hspb3 8988 HSPB3 distal hereditary motor neuronopathy type 2C DOID:0111209 ?Neuronopathy, distal hereditary motor, type IIC 613376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2480 hspb8 26353 HSPB8 Charcot-Marie-Tooth disease axonal type 2L DOID:0110174 Charcot-Marie-Tooth disease, axonal, type 2L 608673 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2480 hspb8 26353 HSPB8 distal hereditary motor neuronopathy type 2A DOID:0111208 Neuropathy, distal hereditary motor, type IIA 158590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-1 hspd1 3329 HSPD1 hereditary spastic paraplegia 13 DOID:0110766 Spastic paraplegia 13, autosomal dominant 605280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-1 hspd1 3329 HSPD1 hypomyelinating leukodystrophy 4 DOID:0060789 Leukodystrophy, hypomyelinating, 4 612233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080807-4 hspg2 3339 HSPG2 Schwartz-Jampel syndrome 1 DOID:0090005 Schwartz-Jampel syndrome, type 1 255800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080807-4 hspg2 3339 HSPG2 Silverman-Handmaker type dyssegmental dysplasia DOID:0090032 Dyssegmental dysplasia, Silverman-Handmaker type 224410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071203-1 htr1aa 3350 HTR1A vesicoureteral reflux DOID:9620 Periodic fever, menstrual cycle dependent 614674 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090409-2 htr1ab 3350 HTR1A vesicoureteral reflux DOID:9620 Periodic fever, menstrual cycle dependent 614674 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A {Anorexia nervosa, susceptibility to} 606788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A {Obsessive-compulsive disorder, susceptibility to} 164230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A alcohol dependence DOID:0050741 {Alcohol dependence, susceptibility to} 103780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A endogenous depression DOID:1595 {Major depressive disorder, response to citalopram therapy in} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A endogenous depression DOID:1595 {Seasonal affective disorder, susceptibility to} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-500 htr2aa 3356 HTR2A schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A {Anorexia nervosa, susceptibility to} 606788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A {Obsessive-compulsive disorder, susceptibility to} 164230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A alcohol dependence DOID:0050741 {Alcohol dependence, susceptibility to} 103780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A endogenous depression DOID:1595 {Major depressive disorder, response to citalopram therapy in} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A endogenous depression DOID:1595 {Seasonal affective disorder, susceptibility to} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-60 htr2ab 3356 HTR2A schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-64 htra1a 5654 HTRA1 age related macular degeneration 7 DOID:0110019 {Macular degeneration, age-related, 7} 610149 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-64 htra1a 5654 HTRA1 age related macular degeneration 7 DOID:0110019 {Macular degeneration, age-related, neovascular type} 610149 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-64 htra1a 5654 HTRA1 CADASIL DOID:13945 CARASIL syndrome 600142 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-64 htra1a 5654 HTRA1 CADASIL 2 DOID:0111036 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-7 htra1b 5654 HTRA1 age related macular degeneration 7 DOID:0110019 {Macular degeneration, age-related, 7} 610149 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-7 htra1b 5654 HTRA1 age related macular degeneration 7 DOID:0110019 {Macular degeneration, age-related, neovascular type} 610149 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-7 htra1b 5654 HTRA1 CADASIL DOID:13945 CARASIL syndrome 600142 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-7 htra1b 5654 HTRA1 CADASIL 2 DOID:0111036 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-131 htt 3064 HTT Lopes-Maciel-Rodan syndrome 617435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-131 htt 3064 HTT Huntington's disease DOID:12858 Huntington disease 143100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-387 huwe1 10075 HUWE1 syndromic X-linked intellectual disability Turner type DOID:0060811 Mental retardation, X-linked syndromic, Turner type 309590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-42 hyal1 3373 HYAL1 mucopolysaccharidosis IX DOID:0050809 ?Mucopolysaccharidosis type IX 601492 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-219 hydin 54768 HYDIN primary ciliary dyskinesia 5 DOID:0110617 Ciliary dyskinesia, primary, 5 608647 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5344 hyou1 10525 HYOU1 ?Immunodeficiency 59 and hypoglycemia 233600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6325 iars1 3376 IARS1 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 617093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-608 iars2 55699 IARS2 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-712 iba57 200205 IBA57 hereditary spastic paraplegia 74 DOID:0110819 ?Spastic paraplegia 74, autosomal recessive 616451 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-712 iba57 200205 IBA57 multiple mitochondrial dysfunctions syndrome 3 DOID:0080135 Multiple mitochondrial dysfunctions syndrome 3 615330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-1 idh1 3417 IDH1 {Glioma, susceptibility to, somatic} 137800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-95 idh2 3418 IDH2 D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria 2 613657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-174 idh3b 3420 IDH3B retinitis pigmentosa 46 DOID:0110409 Retinitis pigmentosa 46 612572 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-37 ids 3423 IDS mucopolysaccharidosis II DOID:12799 Mucopolysaccharidosis II 309900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-29 idua 3425 IDUA mucopolysaccharidosis I DOID:12802 Mucopolysaccharidosis Ih 607014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-29 idua 3425 IDUA mucopolysaccharidosis I DOID:12802 Mucopolysaccharidosis Ih/s 607015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-29 idua 3425 IDUA Scheie syndrome DOID:0060222 Mucopolysaccharidosis Is 607016 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-106 ier3ip1 51124 IER3IP1 Microcephaly, epilepsy, and diabetes syndrome 614231 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-438 ifih1 64135 IFIH1 Singleton-Merten syndrome 1 182250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-438 ifih1 64135 IFIH1 Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 7 615846 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8970 ifitm5 387733 IFITM5 osteogenesis imperfecta type 5 DOID:0110344 Osteogenesis imperfecta, type V 610967 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-1 ifng1 3458 IFNG {AIDS, rapid progression to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-1 ifng1 3458 IFNG {Hepatitis C virus, response to therapy of} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-1 ifng1 3458 IFNG {Tuberculosis, protection against} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-1 ifng1 3458 IFNG aplastic anemia DOID:12449 {Aplastic anemia} 609135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-1 ifng1 3458 IFNG tuberous sclerosis 2 DOID:0080325 {TSC2 angiomyolipomas, renal, modifier of} 613254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-1 ifng1r 3458 IFNG {AIDS, rapid progression to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-1 ifng1r 3458 IFNG {Hepatitis C virus, response to therapy of} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-1 ifng1r 3458 IFNG {Tuberculosis, protection against} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-1 ifng1r 3458 IFNG aplastic anemia DOID:12449 {Aplastic anemia} 609135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060210-1 ifng1r 3458 IFNG tuberous sclerosis 2 DOID:0080325 {TSC2 angiomyolipomas, renal, modifier of} 613254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 {Hepatitis B virus infection, susceptibility to} 610424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 {H. pylori infection, susceptibility to} 600263 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 Immunodeficiency 27A, mycobacteriosis, AR 209950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 Immunodeficiency 27B, mycobacteriosis, AD 615978 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 {Tuberculosis infection, protection against} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-8 ifngr1l 3459 IFNGR1 {Tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2449 ift122 55764 IFT122 Sensenbrenner syndrome DOID:0050577 Cranioectodermal dysplasia 1 218330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-165 ift140 9742 IFT140 Retinitis pigmentosa 80 617781 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-165 ift140 9742 IFT140 short-rib thoracic dysplasia 9 with or without polydactyly DOID:0110097 Short-rib thoracic dysplasia 9 with or without polydactyly 266920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040827-1 ift172 26160 IFT172 retinitis pigmentosa 71 DOID:0110363 Retinitis pigmentosa 71 616394 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040827-1 ift172 26160 IFT172 short-rib thoracic dysplasia 10 with or without polydactyly DOID:0110091 Short-rib thoracic dysplasia 10 with or without polydactyly 615630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-9 ift27 11020 IFT27 Bardet-Biedl syndrome 19 DOID:0110141 ?Bardet-Biedl syndrome 19 615996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111020-13 ift43 112752 IFT43 craniometaphyseal dysplasia DOID:0080033 ?Cranioectodermal dysplasia 3 614099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111020-13 ift43 112752 IFT43 retinitis pigmentosa 81 DOID:0080292 ?Retinitis pigmentosa 81 617871 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111020-13 ift43 112752 IFT43 short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 Short-rib thoracic dysplasia 18 with polydactyly 617866 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040614-3 ift52 51098 IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly 617102 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040614-1 ift57 55081 IFT57 ?Orofaciodigital syndrome XVIII 617927 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-81 ift74 80173 IFT74 ?Bardet-Biedl syndrome 20 617119 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-50 ift80 57560 IFT80 asphyxiating thoracic dystrophy 2 DOID:0110086 Short-rib thoracic dysplasia 2 with or without polydactyly 611263 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040714-3 ift81 28981 IFT81 short-rib thoracic dysplasia 19 with or without polydactyly DOID:0080295 Short-rib thoracic dysplasia 19 with or without polydactyly 617895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2928 igbp1 3476 IGBP1 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome DOID:0060816 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 300472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010607-2 igf1 3479 IGF1 Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-1 igf1ra 3480 IGF1R Insulin-like growth factor I, resistance to 270450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-2 igf1rb 3480 IGF1R Insulin-like growth factor I, resistance to 270450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991111-3 igf2a 3481 IGF2 ?Growth restriction, severe, with distinctive facies 616489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2935 igf2b 3481 IGF2 ?Growth restriction, severe, with distinctive facies 616489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-44 igf2bp2a 10644 IGF2BP2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-536 igf2bp2b 10644 IGF2BP2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-300 igf2r 3482 IGF2R hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061009-25 igfals 3483 IGFALS Acid-labile subunit, deficiency of 615961 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2423 igfbp7 3490 IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 614224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030925-46 ighm 3507 IGHM agammaglobulinemia DOID:2583 Agammaglobulinemia 1 601495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-258 ighmbp2 3508 IGHMBP2 Charcot-Marie-Tooth disease axonal type 2S DOID:0110171 Charcot-Marie-Tooth disease, axonal, type 2S 616155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-258 ighmbp2 3508 IGHMBP2 distal spinal muscular atrophy 1 DOID:0111064 Neuronopathy, distal hereditary motor, type VI 604320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-243 igsf3 3321 IGSF3 ?Lacrimal duct defect 149700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051010-1 ihha 3549 IHH acrocapitofemoral dysplasia DOID:0050604 Acrocapitofemoral dysplasia 607778 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051010-1 ihha 3549 IHH brachydactyly type A1 DOID:0110964 Brachydactyly, type A1 112500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-135 ihhb 3549 IHH acrocapitofemoral dysplasia DOID:0050604 Acrocapitofemoral dysplasia 607778 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-135 ihhb 3549 IHH brachydactyly type A1 DOID:0110964 Brachydactyly, type A1 112500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071115-2 ikbkb 3551 IKBKB Immunodeficiency 15A 618204 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071115-2 ikbkb 3551 IKBKB Immunodeficiency 15B 615592 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG Immunodeficiency 33 300636 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG Immunodeficiency, isolated 300584 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG Invasive pneumococcal disease, recurrent isolated, 2 300640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG Bloch-Sulzberger syndrome DOID:12305 Incontinentia pigmenti 308300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-68 ikbkg 8517 IKBKG hypohidrotic ectodermal dysplasia DOID:14793 Ectodermal dysplasia and immunodeficiency 1 300291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-304 ikzf1 10320 IKZF1 Immunodeficiency, common variable, 13 616873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051111-1 il10 3586 IL10 {Graft-versus-host disease, protection against} 614395 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051111-1 il10 3586 IL10 {HIV-1, susceptibility to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051111-1 il10 3586 IL10 rheumatoid arthritis DOID:7148 {Rheumatoid arthritis, progression of} 180300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070905-4 il10ra 3587 IL10RA inflammatory bowel disease 28 DOID:0110899 Inflammatory bowel disease 28, early onset, autosomal recessive 613148 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050909-1 il10rb 3588 IL10RB {Hepatitis B virus, susceptibility to} 610424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050909-1 il10rb 3588 IL10RB inflammatory bowel disease 25 DOID:0110909 Inflammatory bowel disease 25, early onset, autosomal recessive 612567 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5942 il11ra 3590 IL11RA Craniosynostosis and dental anomalies 614188 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050525-3 il12ba 3593 IL12B Immunodeficiency 29, mycobacteriosis 614890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7937 il12bb 3593 IL12B Immunodeficiency 29, mycobacteriosis 614890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-37 il12bc 3593 IL12B Immunodeficiency 29, mycobacteriosis 614890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100727-2 il13 3596 IL13 {Asthma, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100727-2 il13 3596 IL13 allergic rhinitis DOID:4481 {Allergic rhinitis, susceptibility to} 607154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-242 il17ra1a 23765 IL17RA chronic mucocutaneous candidiasis DOID:2058 Immunodeficiency 51 613953 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110919-2 il17ra3 23765 IL17RA chronic mucocutaneous candidiasis DOID:2058 Immunodeficiency 51 613953 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120111-3 il17rc 84818 IL17RC chronic mucocutaneous candidiasis DOID:2058 Candidiasis, familial, 9 616445 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020320-5 il17rd 54756 IL17RD hypogonadotropic hypogonadism 18 with or without anosmia DOID:0090076 Hypogonadotropic hypogonadism 18 with or without anosmia 615267 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-2 il1b 3553 IL1B stomach cancer DOID:10534 {Gastric cancer risk after H. pylori infection} 137215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-249 il1rapl1a 11141 IL1RAPL1 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 21/34 300143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090109-2 il1rapl1b 11141 IL1RAPL1 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 21/34 300143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120510-4 il21 59067 IL21 common variable immunodeficiency DOID:12177 ?Immunodeficiency, common variable, 11 615767 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-6 il21r.1 50615 IL21R [IgE, elevated level of] 147050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-6 il21r.1 50615 IL21R Immunodeficiency 56 615207 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-7 il21r.2 50615 IL21R [IgE, elevated level of] 147050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-7 il21r.2 50615 IL21R Immunodeficiency 56 615207 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080107-5 il23r 149233 IL23R inflammatory bowel disease 17 DOID:0110883 {Inflammatory bowel disease 17, protection against} 612261 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080107-5 il23r 149233 IL23R psoriasis 7 DOID:0111279 {Psoriasis, protection against} 605606 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080108-2 il2rb 3560 IL2RB Immunodeficiency 63 with lymphoproliferation and autoimmunity 618495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080402-1 il2rga 3561 IL2RG combined T cell and B cell immunodeficiency DOID:628 Combined immunodeficiency, X-linked, moderate 312863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080402-1 il2rga 3561 IL2RG X-linked severe combined immunodeficiency DOID:0060013 Severe combined immunodeficiency, X-linked 300400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080402-2 il2rgb 3561 IL2RG combined T cell and B cell immunodeficiency DOID:628 Combined immunodeficiency, X-linked, moderate 312863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080402-2 il2rgb 3561 IL2RG X-linked severe combined immunodeficiency DOID:0060013 Severe combined immunodeficiency, X-linked 300400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-5 il4r.1 3566 IL4R {AIDS, slow progression to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050227-5 il4r.1 3566 IL4R {Atopy, susceptibility to} 147050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120509-1 il6 3569 IL6 {Kaposi sarcoma, susceptibility to} 148000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120509-1 il6 3569 IL6 arteriovenous malformations of the brain DOID:0060688 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120509-1 il6 3569 IL6 inflammatory bowel disease 1 DOID:0110892 {Crohn disease-associated growth failure} 266600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120509-1 il6 3569 IL6 juvenile rheumatoid arthritis DOID:676 {Rheumatoid arthritis, systemic juvenile} 604302 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120509-1 il6 3569 IL6 type 1 diabetes mellitus DOID:9744 {Diabetes, susceptibility to}, 222100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080107-7 il6r 3570 IL6R [Interleukin-6 receptor, soluble, serum level of, QTL] 614689 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080107-7 il6r 3570 IL6R [Interleukin 6, serum level of, QTL] 614752 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-6 il6st 3572 IL6ST Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080110-7 il7r 3575 IL7R severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive DOID:0090014 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 608971 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1412 ildr1a 286676 ILDR1 autosomal recessive nonsyndromic deafness 42 DOID:0110500 Deafness, autosomal recessive 42 609646 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-72 ildr1b 286676 ILDR1 autosomal recessive nonsyndromic deafness 42 DOID:0110500 Deafness, autosomal recessive 42 609646 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-245 impa1 3612 IMPA1 Mental retardation, autosomal recessive 59 617323 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-23 impad1 54928 IMPAD1 Chondrodysplasia with joint dislocations, GPAPP type 614078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-15 impdh1a 3614 IMPDH1 Leber congenital amaurosis 11 DOID:0110216 Leber congenital amaurosis 11 613837 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-15 impdh1a 3614 IMPDH1 retinitis pigmentosa 10 DOID:0110388 Retinitis pigmentosa 10 180105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-206 impdh1b 3614 IMPDH1 Leber congenital amaurosis 11 DOID:0110216 Leber congenital amaurosis 11 613837 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-206 impdh1b 3614 IMPDH1 retinitis pigmentosa 10 DOID:0110388 Retinitis pigmentosa 10 180105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030114-5 impdh2 3615 IMPDH2 [IMPDH2 enzyme activity, variation in] 617995 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-197 impg1a 3617 IMPG1 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 4 616151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101007-1 impg1b 3617 IMPG1 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 4 616151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-217 impg2a 50939 IMPG2 retinitis pigmentosa 56 DOID:0110371 Retinitis pigmentosa 56 613581 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-217 impg2a 50939 IMPG2 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 5 616152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-56 impg2b 50939 IMPG2 retinitis pigmentosa 56 DOID:0110371 Retinitis pigmentosa 56 613581 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-56 impg2b 50939 IMPG2 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 5 616152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-161 inavaa 55765 INAVA {Inflammatory bowel disease 29} 618077 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-190 inavab 55765 INAVA {Inflammatory bowel disease 29} 618077 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140711-5 inf2 64423 INF2 Charcot-Marie-Tooth disease dominant intermediate E DOID:0110205 Charcot-Marie-Tooth disease, dominant intermediate E 614455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140711-5 inf2 64423 INF2 focal segmental glomerulosclerosis 5 DOID:0111130 Glomerulosclerosis, focal segmental, 5 613237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4388 ing1 3621 ING1 head and neck squamous cell carcinoma DOID:5520 Squamous cell carcinoma, head and neck, somatic 275355 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-23 inpp5e 56623 INPP5E Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-23 inpp5e 56623 INPP5E Joubert syndrome 1 DOID:0110980 Joubert syndrome 1 213300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-101 inpp5ka 51763 INPP5K congenital muscular dystrophy with cataracts and intellectual disability DOID:0080197 Muscular dystrophy, congenital, with cataracts and intellectual disability 617404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100408-3 inpp5kb 51763 INPP5K congenital muscular dystrophy with cataracts and intellectual disability DOID:0080197 Muscular dystrophy, congenital, with cataracts and intellectual disability 617404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3904 inppl1a 3636 INPPL1 Opsismodysplasia 258480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-110 ins 3630 INS Hyperproinsulinemia 616214 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-110 ins 3630 INS maturity-onset diabetes of the young type 10 DOID:0111108 Maturity-onset diabetes of the young, type 10 613370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-110 ins 3630 INS permanent neonatal diabetes mellitus DOID:0060639 Diabetes mellitus, permanent neonatal 606176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-110 ins 3630 INS type 1 diabetes mellitus 2 DOID:0110741 Diabetes mellitus, insulin-dependent, 2 125852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050310-5 insl3 3640 INSL3 cryptorchidism DOID:11383 Cryptorchidism 219050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-3 insra 3643 INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-3 insra 3643 INSR Rabson-Mendenhall syndrome 262190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-3 insra 3643 INSR Donohue syndrome DOID:0050470 Leprechaunism 246200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-3 insra 3643 INSR familial hyperinsulinemic hypoglycemia 5 DOID:0070220 Hyperinsulinemic hypoglycemia, familial, 5 609968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-4 insrb 3643 INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-4 insrb 3643 INSR Rabson-Mendenhall syndrome 262190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-4 insrb 3643 INSR Donohue syndrome DOID:0050470 Leprechaunism 246200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020503-4 insrb 3643 INSR familial hyperinsulinemic hypoglycemia 5 DOID:0070220 Hyperinsulinemic hypoglycemia, familial, 5 609968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6523 ints1 26173 INTS1 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 618571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110914-91 intu 27152 INTU ?Short-rib thoracic dysplasia 20 with polydactyly 617925 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110914-91 intu 27152 INTU orofaciodigital syndrome XVII DOID:0080289 ?Orofaciodigital syndrome XVII 617926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020507-2 invs 27130 INVS nephronophthisis 2 DOID:0111113 Nephronophthisis 2, infantile 602088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-47 iqcb1 9657 IQCB1 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome 5 609254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-217 iqce 23288 IQCE ?Polydactyly, postaxial, type A7 617642 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170302-3 iqsec2a 23096 IQSEC2 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 1/78 309530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-73 iqsec2b 23096 IQSEC2 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 1/78 309530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-710 irak3 11213 IRAK3 {Asthma susceptibility 5} 611064 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-738 irak4 51135 IRAK4 Invasive pneumococcal disease, recurrent isolated, 1 610799 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-738 irak4 51135 IRAK4 IRAK4 deficiency 607676 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051205-1 ireb2 3658 IREB2 ?Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 618451 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4031 irf1a 3659 IRF1 Myelodysplastic syndrome, preleukemic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4031 irf1a 3659 IRF1 Myelogenous leukemia, acute ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4031 irf1a 3659 IRF1 lung cancer DOID:1324 Nonsmall cell lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4031 irf1a 3659 IRF1 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-13 irf1b 3659 IRF1 Myelodysplastic syndrome, preleukemic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-13 irf1b 3659 IRF1 Myelogenous leukemia, acute ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-13 irf1b 3659 IRF1 lung cancer DOID:1324 Nonsmall cell lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-13 irf1b 3659 IRF1 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7809 irf2bp2a 359948 IRF2BP2 ?Immunodeficiency, common variable, 14 617765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2574 irf2bp2b 359948 IRF2BP2 ?Immunodeficiency, common variable, 14 617765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1968 irf2bpl 64207 IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071120-7 irf3 3661 IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7} 616532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-330 irf4a 3662 IRF4 [Skin/hair/eye pigmentation, variation in, 8] 611724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-131 irf4b 3662 IRF4 [Skin/hair/eye pigmentation, variation in, 8] 611724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2587 irf5 3663 IRF5 {Systemic lupus erythematosus, susceptibility to, 10} 612251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2587 irf5 3663 IRF5 inflammatory bowel disease 14 DOID:0110895 {Inflammatory bowel disease 14} 612245 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1137 irf6 3664 IRF6 {Orofacial cleft 6} 608864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1137 irf6 3664 IRF6 popliteal pterygium syndrome DOID:0060055 Popliteal pterygium syndrome 1 119500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1137 irf6 3664 IRF6 Van der Woude syndrome DOID:0060239 van der Woude syndrome 119300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1518 irf7 3665 IRF7 ?Immunodeficiency 39 616345 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-367 irf8 3394 IRF8 Immunodeficiency 32A, mycobacteriosis, autosomal dominant 614893 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-367 irf8 3394 IRF8 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 226990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-872 irs1 3667 IRS1 {Coronary artery disease, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-872 irs1 3667 IRS1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-975 irs2a 8660 IRS2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-462 irs2b 8660 IRS2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010716-2 irx5a 10265 IRX5 Hamamy syndrome 611174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040628-5 irx5b 10265 IRX5 Hamamy syndrome 611174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-94 isca1 81689 ISCA1 multiple mitochondrial dysfunctions syndrome 5 DOID:0080274 Multiple mitochondrial dysfunctions syndrome 5 617613 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-486 isca2 122961 ISCA2 multiple mitochondrial dysfunctions syndrome 4 DOID:0080136 Multiple mitochondrial dysfunctions syndrome 4 616370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-36 iscua 23479 ISCU Myopathy with lactic acidosis, hereditary 255125 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-332 iscub 23479 ISCU Myopathy with lactic acidosis, hereditary 255125 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021211-1 isg15 9636 ISG15 Immunodeficiency 38 616126 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120919-4 itcha 83737 ITCH Autoimmune disease, multisystem, with facial dysmorphism 613385 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131024-2 itchb 83737 ITCH Autoimmune disease, multisystem, with facial dysmorphism 613385 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111011-4 itga2.1 3673 ITGA2 platelet-type bleeding disorder 9 DOID:0111045 ?Glycoprotein Ia deficiency 614200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-70 itga2.2 3673 ITGA2 platelet-type bleeding disorder 9 DOID:0111045 ?Glycoprotein Ia deficiency 614200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-176 itga2.3 3673 ITGA2 platelet-type bleeding disorder 9 DOID:0111045 ?Glycoprotein Ia deficiency 614200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051031-1 itga2b 3674 ITGA2B Thrombocytopenia, neonatal alloimmune, BAK antigen related ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051031-1 itga2b 3674 ITGA2B Glanzmann's thrombasthenia DOID:2219 Glanzmann thrombasthenia 273800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051031-1 itga2b 3674 ITGA2B platelet-type bleeding disorder 16 DOID:0060691 Bleeding disorder, platelet-type, 16, autosomal dominant 187800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090805-3 itga3a 3675 ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-55 itga3b 3675 ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-23 itga6a 3655 ITGA6 junctional epidermolysis bullosa with pyloric atresia DOID:0060733 Epidermolysis bullosa, junctional, with pyloric stenosis 226730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-5 itga6b 3655 ITGA6 junctional epidermolysis bullosa with pyloric atresia DOID:0060733 Epidermolysis bullosa, junctional, with pyloric stenosis 226730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-10 itga7 3679 ITGA7 congenital muscular dystrophy due to integrin alpha-7 deficiency DOID:0110639 Muscular dystrophy, congenital, due to ITGA7 deficiency 613204 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-48 itga8 8516 ITGA8 renal agenesis DOID:14766 Renal hypodysplasia/aplasia 1 191830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-4 itgb2 3689 ITGB2 leukocyte adhesion deficiency 1 DOID:0110910 Leukocyte adhesion deficiency 116920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-1 itgb3a 3690 ITGB3 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-1 itgb3a 3690 ITGB3 Purpura, posttransfusion ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-1 itgb3a 3690 ITGB3 Thrombocytopenia, neonatal alloimmune ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-1 itgb3a 3690 ITGB3 Glanzmann's thrombasthenia DOID:2219 Glanzmann thrombasthenia 273800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-1 itgb3a 3690 ITGB3 platelet-type bleeding disorder 16 DOID:0060691 Bleeding disorder, platelet-type, 16, autosomal dominant 187800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-2 itgb3b 3690 ITGB3 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-2 itgb3b 3690 ITGB3 Purpura, posttransfusion ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-2 itgb3b 3690 ITGB3 Thrombocytopenia, neonatal alloimmune ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-2 itgb3b 3690 ITGB3 Glanzmann's thrombasthenia DOID:2219 Glanzmann thrombasthenia 273800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071207-2 itgb3b 3690 ITGB3 platelet-type bleeding disorder 16 DOID:0060691 Bleeding disorder, platelet-type, 16, autosomal dominant 187800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7209 itgb4 3691 ITGB4 epidermolysis bullosa simplex localized type DOID:0080510 Epidermolysis bullosa of hands and feet 131800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7209 itgb4 3691 ITGB4 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, non-Herlitz type 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7209 itgb4 3691 ITGB4 junctional epidermolysis bullosa with pyloric atresia DOID:0060733 Epidermolysis bullosa, junctional, with pyloric atresia 226730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100812-2 itgb6 3694 ITGB6 amelogenesis imperfecta type 1H DOID:0110064 Amelogenesis imperfecta, type IH 616221 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-261 itk 3702 ITK lymphoproliferative syndrome 1 DOID:0060707 Lymphoproliferative syndrome 1 613011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2352 itm2ba 9445 ITM2B ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 616079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2352 itm2ba 9445 ITM2B ITM2B-related cerebral amyloid angiopathy 1 DOID:0070029 Dementia, familial British 176500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2352 itm2ba 9445 ITM2B ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 Dementia, familial Danish 117300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2139 itm2bb 9445 ITM2B ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 616079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2139 itm2bb 9445 ITM2B ITM2B-related cerebral amyloid angiopathy 1 DOID:0070029 Dementia, familial British 176500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2139 itm2bb 9445 ITM2B ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 Dementia, familial Danish 117300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-218 itpa 3704 ITPA [Inosine triphosphatase deficiency] 613850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-218 itpa 3704 ITPA early infantile epileptic encephalopathy 35 DOID:0080458 Epileptic encephalopathy, early infantile, 35 616647 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6009 itpkca 80271 ITPKC Kawasaki disease DOID:13378 {Kawasaki disease, susceptibility to} 611775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080225-27 itpkcb 80271 ITPKC Kawasaki disease DOID:13378 {Kawasaki disease, susceptibility to} 611775 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-3 itpr1a 3708 ITPR1 Gillespie syndrome 206700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-3 itpr1a 3708 ITPR1 spinocerebellar ataxia type 15 DOID:0050965 Spinocerebellar ataxia 15 606658 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-3 itpr1a 3708 ITPR1 spinocerebellar ataxia type 29 DOID:0050978 Spinocerebellar ataxia 29, congenital nonprogressive 117360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-2 itpr1b 3708 ITPR1 Gillespie syndrome 206700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-2 itpr1b 3708 ITPR1 spinocerebellar ataxia type 15 DOID:0050965 Spinocerebellar ataxia 15 606658 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070604-2 itpr1b 3708 ITPR1 spinocerebellar ataxia type 29 DOID:0050978 Spinocerebellar ataxia 29, congenital nonprogressive 117360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-192 itpr2 3709 ITPR2 isolated anhidrosis with normal sweat glands DOID:0060603 ?Anhidrosis, isolated, with normal sweat glands 106190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070605-1 itpr3 3710 ITPR3 type 1 diabetes mellitus DOID:9744 {Diabetes, type 1, susceptibility to} 222100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-262 ivd 3712 IVD isovaleric acidemia DOID:14753 Isovaleric acidemia 243500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-311 iyd 389434 IYD Thyroid dyshormonogenesis 4 274800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-2 jag1a 182 JAG1 ?Deafness, congenital heart defects, and posterior embryotoxon 617992 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-2 jag1a 182 JAG1 Alagille syndrome DOID:9245 Alagille syndrome 1 118450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-2 jag1a 182 JAG1 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-4 jag1b 182 JAG1 ?Deafness, congenital heart defects, and posterior embryotoxon 617992 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-4 jag1b 182 JAG1 Alagille syndrome DOID:9245 Alagille syndrome 1 118450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011128-4 jag1b 182 JAG1 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-80 jagn1a 84522 JAGN1 Neutropenia, severe congenital, 6, autosomal recessive 616022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-103 jagn1b 84522 JAGN1 Neutropenia, severe congenital, 6, autosomal recessive 616022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 Budd-Chiari syndrome DOID:11512 {Budd-Chiari syndrome, somatic} 600880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 essential thrombocythemia DOID:2224 Thrombocythemia 3 614521 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 familial erythrocytosis 1 DOID:0060652 Erythrocytosis, somatic 133100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 myelofibrosis DOID:4971 Myelofibrosis, somatic 254450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-481 jak2a 3717 JAK2 polycythemia vera DOID:8997 Polycythemia vera, somatic 263300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 Budd-Chiari syndrome DOID:11512 {Budd-Chiari syndrome, somatic} 600880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 essential thrombocythemia DOID:2224 Thrombocythemia 3 614521 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 familial erythrocytosis 1 DOID:0060652 Erythrocytosis, somatic 133100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 myelofibrosis DOID:4971 Myelofibrosis, somatic 254450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-123 jak2b 3717 JAK2 polycythemia vera DOID:8997 Polycythemia vera, somatic 263300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070725-4 jak3 3718 JAK3 janus kinase-3 deficiency DOID:0060008 SCID, autosomal recessive, T-negative/B-positive type 600802 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-177 jam3a 83700 JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 613730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-441 jam3b 83700 JAM3 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 613730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-233 jph1a 56704 JPH1 Charcot-Marie-Tooth disease axonal type 2K DOID:0110167 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-389 jph1b 56704 JPH1 Charcot-Marie-Tooth disease axonal type 2K DOID:0110167 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9848 jph2 57158 JPH2 hypertrophic cardiomyopathy 17 DOID:0110323 Cardiomyopathy, hypertrophic, 17 613873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-415 jph3 57338 JPH3 Huntington's disease-like 2 DOID:0090104 Huntington disease-like 2 606438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991207-22 jupa 3728 JUP arrhythmogenic right ventricular dysplasia 12 DOID:0110083 Arrhythmogenic right ventricular dysplasia 12 611528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991207-22 jupa 3728 JUP Naxos disease DOID:0080551 Naxos disease 601214 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-10 jupb 3728 JUP arrhythmogenic right ventricular dysplasia 12 DOID:0110083 Arrhythmogenic right ventricular dysplasia 12 611528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110407-10 jupb 3728 JUP Naxos disease DOID:0080551 Naxos disease 601214 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-4 kalrna 8997 KALRN {Coronary heart disease, susceptibility to, 5} 608901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-7244 kalrnb 8997 KALRN {Coronary heart disease, susceptibility to, 5} 608901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-215 kank1a 23189 KANK1 spastic quadriplegia DOID:10970 Cerebral palsy, spastic quadriplegic, 2 612900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-260 kank1b 23189 KANK1 spastic quadriplegia DOID:10970 Cerebral palsy, spastic quadriplegic, 2 612900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-121 kank2 25959 KANK2 Palmoplantar keratoderma and woolly hair 616099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-121 kank2 25959 KANK2 nephrotic syndrome type 16 DOID:0080272 Nephrotic syndrome, type 16 617783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121219-5 kansl1a 284058 KANSL1 Koolen de Vries syndrome DOID:0050880 Koolen-De Vries syndrome 610443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121219-4 kansl1b 284058 KANSL1 Koolen de Vries syndrome DOID:0050880 Koolen-De Vries syndrome 610443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-8 kars1 3735 KARS1 autosomal recessive nonsyndromic deafness 89 DOID:0110534 Deafness, autosomal recessive 89 613916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-8 kars1 3735 KARS1 Charcot-Marie-Tooth disease recessive intermediate B DOID:0110204 ?Charcot-Marie-Tooth disease, recessive intermediate, B 613641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021022-3 kat6a 7994 KAT6A autosomal dominant non-syndromic intellectual disability 32 DOID:0070062 Mental retardation, autosomal dominant 32 616268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000607-52 kat6b 23522 KAT6B Genitopatellar syndrome 606170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000607-52 kat6b 23522 KAT6B blepharophimosis-intellectual disability syndrome, SBBYS type DOID:0060290 SBBYSS syndrome 603736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1954 katnb1 10300 KATNB1 Lissencephaly 6, with microcephaly 616212 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-122 kbtbd13 390594 KBTBD13 nemaline myopathy 6 DOID:0110935 Nemaline myopathy 6, autosomal dominant 609273 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-15 kcna1a 3736 KCNA1 episodic ataxia type 1 DOID:0050989 Episodic ataxia/myokymia syndrome 160120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140515-1 kcna1b 3736 KCNA1 episodic ataxia type 1 DOID:0050989 Episodic ataxia/myokymia syndrome 160120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131113-1 kcna2a 3737 KCNA2 early infantile epileptic encephalopathy 32 DOID:0080416 Epileptic encephalopathy, early infantile, 32 616366 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-89 kcna2b 3737 KCNA2 early infantile epileptic encephalopathy 32 DOID:0080416 Epileptic encephalopathy, early infantile, 32 616366 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121127-2 kcna4 3739 KCNA4 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 618284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141104-2 kcna5 3741 KCNA5 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 7 612240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090831-3 kcnb1 3745 KCNB1 early infantile epileptic encephalopathy 26 DOID:0080461 Epileptic encephalopathy, early infantile, 26 616056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-10 kcnc1a 3746 KCNC1 Epilepsy, progressive myoclonic 7 616187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080414-3 kcnc1b 3746 KCNC1 Epilepsy, progressive myoclonic 7 616187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100901-1 kcnc3a 3748 KCNC3 spinocerebellar ataxia type 13 DOID:0050963 Spinocerebellar ataxia 13 605259 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100901-2 kcnc3b 3748 KCNC3 spinocerebellar ataxia type 13 DOID:0050963 Spinocerebellar ataxia 13 605259 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5626 kcnd3 3752 KCND3 Brugada syndrome 9 DOID:0110226 Brugada syndrome 9 616399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5626 kcnd3 3752 KCND3 spinocerebellar ataxia type 19/22 DOID:0050970 Spinocerebellar ataxia 19 607346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141104-1 kcne1 3753 KCNE1 Jervell-Lange Nielsen syndrome DOID:2842 Jervell and Lange-Nielsen syndrome 2 612347 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141104-1 kcne1 3753 KCNE1 long QT syndrome 5 DOID:0110647 Long QT syndrome 5 613695 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061226-1 kcnh1a 3756 KCNH1 Temple-Baraitser syndrome 611816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061226-1 kcnh1a 3756 KCNH1 Zimmermann-Laband syndrome 1 135500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121128-4 kcnh1b 3756 KCNH1 Temple-Baraitser syndrome 611816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121128-4 kcnh1b 3756 KCNH1 Zimmermann-Laband syndrome 1 135500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-699 kcnh2a 3757 KCNH2 long QT syndrome 2 DOID:0110645 Long QT syndrome 2 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-699 kcnh2a 3757 KCNH2 long QT syndrome 2 DOID:0110645 {Long QT syndrome 2, acquired, susceptibility to} 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-699 kcnh2a 3757 KCNH2 short QT syndrome DOID:0050793 Short QT syndrome 1 609620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100629-2 kcnh2b 3757 KCNH2 long QT syndrome 2 DOID:0110645 Long QT syndrome 2 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100629-2 kcnh2b 3757 KCNH2 long QT syndrome 2 DOID:0110645 {Long QT syndrome 2, acquired, susceptibility to} 613688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100629-2 kcnh2b 3757 KCNH2 short QT syndrome DOID:0050793 Short QT syndrome 1 609620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130726-1 kcnj10a 3766 KCNJ10 autosomal recessive nonsyndromic deafness 4 DOID:0110498 Enlarged vestibular aqueduct, digenic 600791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130726-1 kcnj10a 3766 KCNJ10 EAST syndrome DOID:0060484 SESAME syndrome 612780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130726-2 kcnj10b 3766 KCNJ10 autosomal recessive nonsyndromic deafness 4 DOID:0110498 Enlarged vestibular aqueduct, digenic 600791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130726-2 kcnj10b 3766 KCNJ10 EAST syndrome DOID:0060484 SESAME syndrome 612780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060308-2 kcnj11 3767 KCNJ11 familial hyperinsulinemic hypoglycemia 2 DOID:0070218 Hyperinsulinemic hypoglycemia, familial, 2 601820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060308-2 kcnj11 3767 KCNJ11 maturity-onset diabetes of the young type 13 DOID:0111110 Maturity-onset diabetes of the young, type 13 616329 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060308-2 kcnj11 3767 KCNJ11 permanent neonatal diabetes mellitus DOID:0060639 Diabetes, permanent neonatal, with or without neurologic features 606176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060308-2 kcnj11 3767 KCNJ11 transient neonatal diabetes mellitus DOID:0060334 Diabetes mellitus, transient neonatal, 3 610582 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060308-2 kcnj11 3767 KCNJ11 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, type 2, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070129-1 kcnj13 3769 KCNJ13 Snowflake vitreoretinal degeneration 193230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070129-1 kcnj13 3769 KCNJ13 Leber congenital amaurosis 16 DOID:0110118 Leber congenital amaurosis 16 614186 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-55 kcnj1a.1 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-22 kcnj1a.2 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-256 kcnj1a.3 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-186 kcnj1a.4 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-120 kcnj1a.5 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-272 kcnj1a.6 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-9 kcnj1b 3758 KCNJ1 Bartter disease type 2 DOID:0110143 Bartter syndrome, type 2 241200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120319-1 kcnj2a 3759 KCNJ2 Andersen-Tawil syndrome DOID:0050434 Andersen syndrome 170390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120319-1 kcnj2a 3759 KCNJ2 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 9 613980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120319-1 kcnj2a 3759 KCNJ2 short QT syndrome DOID:0050793 Short QT syndrome 3 609622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-290 kcnj2b 3759 KCNJ2 Andersen-Tawil syndrome DOID:0050434 Andersen syndrome 170390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-290 kcnj2b 3759 KCNJ2 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 9 613980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-290 kcnj2b 3759 KCNJ2 short QT syndrome DOID:0050793 Short QT syndrome 3 609622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-97 kcnj5 3762 KCNJ5 long QT syndrome 13 DOID:0110654 Long QT syndrome 13 613485 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-97 kcnj5 3762 KCNJ5 primary hyperaldosteronism DOID:446 Hyperaldosteronism, familial, type III 613677 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120327-2 kcnj6 3763 KCNJ6 Keppen-Lubinsky syndrome 614098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100405-2 kcnk18 338567 KCNK18 {Migraine, with or without aura, susceptibility to, 13} 613656 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-171 kcnk3a 3777 KCNK3 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, 4 615344 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120709-43 kcnk3b 3777 KCNK3 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, 4 615344 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-80 kcnk4a 50801 KCNK4 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110304-1 kcnk4b 50801 KCNK4 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-260 kcnk9 51305 KCNK9 Birk-Barel syndrome DOID:0050675 Birk-Barel mental retardation dysmorphism syndrome 612292 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070202-9 kcnma1a 3778 KCNMA1 ?Cerebellar atrophy, developmental delay, and seizures 617643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070202-9 kcnma1a 3778 KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 609446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101209-2 kcnma1b 3778 KCNMA1 ?Cerebellar atrophy, developmental delay, and seizures 617643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101209-2 kcnma1b 3778 KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 609446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-192 kcnn4 3783 KCNN4 Dehydrated hereditary stomatocytosis 2 616689 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-5 kcnq1.1 3784 KCNQ1 familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 3 607554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-5 kcnq1.1 3784 KCNQ1 Jervell-Lange Nielsen syndrome DOID:2842 Jervell and Lange-Nielsen syndrome 220400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-5 kcnq1.1 3784 KCNQ1 long QT syndrome 1 DOID:0110644 Long QT syndrome 1 192500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-5 kcnq1.1 3784 KCNQ1 long QT syndrome 1 DOID:0110644 {Long QT syndrome 1, acquired, susceptibility to} 192500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-5 kcnq1.1 3784 KCNQ1 short QT syndrome DOID:0050793 Short QT syndrome 2 609621 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-37 kcnq2a 3785 KCNQ2 benign neonatal seizures DOID:14264 Myokymia 121200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-37 kcnq2a 3785 KCNQ2 benign neonatal seizures DOID:14264 Seizures, benign neonatal, 1 121200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-37 kcnq2a 3785 KCNQ2 early infantile epileptic encephalopathy 7 DOID:0080462 Epileptic encephalopathy, early infantile, 7 613720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120130-1 kcnq2b 3785 KCNQ2 benign neonatal seizures DOID:14264 Myokymia 121200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120130-1 kcnq2b 3785 KCNQ2 benign neonatal seizures DOID:14264 Seizures, benign neonatal, 1 121200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120130-1 kcnq2b 3785 KCNQ2 early infantile epileptic encephalopathy 7 DOID:0080462 Epileptic encephalopathy, early infantile, 7 613720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-301 kcnq3 3786 KCNQ3 benign neonatal seizures DOID:14264 Seizures, benign neonatal, 2 121201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-132 kcnq4 9132 KCNQ4 autosomal dominant nonsyndromic deafness 2A DOID:0110558 Deafness, autosomal dominant 2A 600101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-185 kcnq5a 56479 KCNQ5 autosomal dominant mental retardation 46 DOID:0080237 Mental retardation, autosomal dominant 46 617601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-178 kcnq5b 56479 KCNQ5 autosomal dominant mental retardation 46 DOID:0080237 Mental retardation, autosomal dominant 46 617601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091231-1 kcnt1 57582 KCNT1 autosomal dominant nocturnal frontal lobe epilepsy 5 DOID:0060686 Epilepsy, nocturnal frontal lobe, 5 615005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091231-1 kcnt1 57582 KCNT1 early infantile epileptic encephalopathy 14 DOID:0080439 Epileptic encephalopathy, early infantile, 14 614959 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-783 kcnt2 343450 KCNT2 early infantile epileptic encephalopathy 57 DOID:0080284 ?Epileptic encephalopathy, early infantile, 57 617771 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-27 kcnv2a 169522 KCNV2 cone dystrophy DOID:0050795 Retinal cone dystrophy 3B 610356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-28 kcnv2b 169522 KCNV2 cone dystrophy DOID:0050795 Retinal cone dystrophy 3B 610356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-194 kctd1 284252 KCTD1 Scalp-ear-nipple syndrome 181270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130531-80 kctd17 79734 KCTD17 myoclonic dystonia 26 DOID:0090036 Dystonia 26, myoclonic 616398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060804-2 kctd7 154881 KCTD7 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-156 kdf1a 126695 KDF1 ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 617337 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-285 kdf1b 126695 KDF1 ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 617337 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7828 kdm1a 23028 KDM1A Cleft palate, psychomotor retardation, and distinctive facial features 616728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5379 kdm5ba 10765 KDM5B Mental retardation, autosomal recessive 65 618109 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030424-1 kdm5bb 10765 KDM5B Mental retardation, autosomal recessive 65 618109 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-94 kdm5c 8242 KDM5C syndromic X-linked intellectual disability Claes-Jensen type DOID:0060809 Mental retardation, X-linked, syndromic, Claes-Jensen type 300534 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-56 kdm6a 7403 KDM6A Kabuki syndrome DOID:0060473 Kabuki syndrome 2 300867 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091005-1 kdm6ba 23135 KDM6B Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 618505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-166 kdm6bb 23135 KDM6B Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 618505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-112 kdr 3791 KDR Hemangioma, capillary infantile, somatic 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-112 kdr 3791 KDR {Hemangioma, capillary infantile, susceptibility to} 602089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-853 kdsr 2531 KDSR erythrokeratodermia variabilis et progressiva 4 DOID:0080250 Erythrokeratodermia variabilis et progressiva 4 617526 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-118 kel 3792 KEL [Blood group, Kell] 110900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-165 kera 11081 KERA cornea plana DOID:0060287 Cornea plana 2, autosomal recessive 217300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-381 khk 3795 KHK [Fructosuria] 229800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-170 kidins220a 57498 KIDINS220 Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7824 kidins220b 57498 KIDINS220 Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020426-1 kif11 3832 KIF11 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation DOID:0060349 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 152950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5759 kif14 9928 KIF14 ?Meckel syndrome 12 616258 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5759 kif14 9928 KIF14 Microcephaly 20, primary, autosomal recessive 617914 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100913-3 kif1aa 547 KIF1A autosomal dominant non-syndromic intellectual disability 9 DOID:0070039 Mental retardation, autosomal dominant 9 614255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100913-3 kif1aa 547 KIF1A hereditary sensory neuropathy type 2C DOID:0070147 Neuropathy, hereditary sensory, type IIC 614213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100913-3 kif1aa 547 KIF1A hereditary spastic paraplegia 30 DOID:0110781 Spastic paraplegia 30, autosomal recessive 610357 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-480 kif1ab 547 KIF1A autosomal dominant non-syndromic intellectual disability 9 DOID:0070039 Mental retardation, autosomal dominant 9 614255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-480 kif1ab 547 KIF1A hereditary sensory neuropathy type 2C DOID:0070147 Neuropathy, hereditary sensory, type IIC 614213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-480 kif1ab 547 KIF1A hereditary spastic paraplegia 30 DOID:0110781 Spastic paraplegia 30, autosomal recessive 610357 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-1 kif1b 23095 KIF1B {Neuroblastoma, susceptibility to, 1} 256700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-1 kif1b 23095 KIF1B Charcot-Marie-Tooth disease type 2A1 DOID:0110154 ?Charcot-Marie-Tooth disease, type 2A1 118210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-1 kif1b 23095 KIF1B pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-119 kif1c 10749 KIF1C spastic ataxia 2 DOID:0050941 Spastic ataxia 2, autosomal recessive 611302 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-237 kif21a 55605 KIF21A congenital fibrosis of the extraocular muscles DOID:0080143 Fibrosis of extraocular muscles, congenital, 1 135700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-237 kif21a 55605 KIF21A congenital fibrosis of the extraocular muscles DOID:0080143 Fibrosis of extraocular muscles, congenital, 3B 135700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-34 kif22 3835 KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-141 kif5aa 3798 KIF5A {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-141 kif5aa 3798 KIF5A Myoclonus, intractable, neonatal 617235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-141 kif5aa 3798 KIF5A hereditary spastic paraplegia 10 DOID:0110763 Spastic paraplegia 10, autosomal dominant 604187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-3 kif5ab 3798 KIF5A {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-3 kif5ab 3798 KIF5A Myoclonus, intractable, neonatal 617235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-3 kif5ab 3798 KIF5A hereditary spastic paraplegia 10 DOID:0110763 Spastic paraplegia 10, autosomal dominant 604187 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-14 kif5c 3800 KIF5C complex cortical dysplasia with other brain malformations 2 DOID:0090133 Cortical dysplasia, complex, with other brain malformations 2 615282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050307-1 kif7 374654 KIF7 ?Al-Gazali-Bakalinova syndrome 607131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050307-1 kif7 374654 KIF7 acrocallosal syndrome DOID:9250 Acrocallosal syndrome 200990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050307-1 kif7 374654 KIF7 acrocallosal syndrome DOID:9250 Joubert syndrome 12 200990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050307-1 kif7 374654 KIF7 hydrolethalus syndrome DOID:0050779 ?Hydrolethalus syndrome 2 614120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-1989 kifbp 26128 KIFBP Goldberg-Shprintzen syndrome DOID:0060481 Goldberg-Shprintzen megacolon syndrome 609460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080128-1 kiss1 3814 KISS1 hypogonadotropic hypogonadism 13 with or without anosmia DOID:0090073 ?Hypogonadotropic hypogonadism 13 with or without anosmia 614842 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-521 kiss1ra 84634 KISS1R ?Precocious puberty, central, 1 176400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-521 kiss1ra 84634 KISS1R hypogonadotropic hypogonadism 8 with or without anosmia DOID:0090074 Hypogonadotropic hypogonadism 8 with or without anosmia 614837 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-54 kiss1rb 84634 KISS1R ?Precocious puberty, central, 1 176400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-54 kiss1rb 84634 KISS1R hypogonadotropic hypogonadism 8 with or without anosmia DOID:0090074 Hypogonadotropic hypogonadism 8 with or without anosmia 614837 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT gastrointestinal stromal tumor DOID:9253 Gastrointestinal stromal tumor, familial 606764 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT mastocytosis DOID:350 Mastocytosis, cutaneous 154800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT mastocytosis DOID:350 Mastocytosis, systemic, somatic 154800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT piebaldism DOID:3263 Piebaldism 172800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-464 kita 3815 KIT testicular germ cell cancer DOID:5557 Germ cell tumors, somatic 273300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT gastrointestinal stromal tumor DOID:9253 Gastrointestinal stromal tumor, familial 606764 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT mastocytosis DOID:350 Mastocytosis, cutaneous 154800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT mastocytosis DOID:350 Mastocytosis, systemic, somatic 154800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT piebaldism DOID:3263 Piebaldism 172800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-2 kitb 3815 KIT testicular germ cell cancer DOID:5557 Germ cell tumors, somatic 273300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-1 kitlga 4254 KITLG Hyperpigmentation with or without hypopigmentation 145250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-1 kitlga 4254 KITLG [Skin/hair/eye pigmentation 7, blond/brown hair] 611664 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-1 kitlga 4254 KITLG autosomal dominant nonsyndromic deafness 69 DOID:0110590 Deafness, autosomal dominant 69, unilateral or asymmetric 616697 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-2 kitlgb 4254 KITLG Hyperpigmentation with or without hypopigmentation 145250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-2 kitlgb 4254 KITLG [Skin/hair/eye pigmentation 7, blond/brown hair] 611664 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-2 kitlgb 4254 KITLG autosomal dominant nonsyndromic deafness 69 DOID:0110590 Deafness, autosomal dominant 69, unilateral or asymmetric 616697 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-4 kiz 55857 KIZ retinitis pigmentosa 69 DOID:0110410 Retinitis pigmentosa 69 615780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110221-1 kl 9365 KL ?Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2670 klc2 64837 KLC2 SPOAN syndrome DOID:0060491 Spastic paraplegia, optic atrophy, and neuropathy 609541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-55 klf1 10661 KLF1 Blood group--Lutheran inhibitor 111150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-55 klf1 10661 KLF1 [Hereditary persistence of fetal hemoglobin] 613566 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-55 klf1 10661 KLF1 congenital dyserythropoietic anemia DOID:1338 Dyserythropoietic anemia, congenital, type IV 613673 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3568 klf11a 8462 KLF11 maturity-onset diabetes of the young type 7 DOID:0111106 Maturity-onset diabetes of the young, type VII 610508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-82 klf11b 8462 KLF11 maturity-onset diabetes of the young type 7 DOID:0111106 Maturity-onset diabetes of the young, type VII 610508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-9 klf6a 1316 KLF6 prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-9 klf6a 1316 KLF6 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-633 klf6b 1316 KLF6 prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-633 klf6b 1316 KLF6 stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-174 klhdc8b 200942 KLHDC8B Hodgkin's lymphoma DOID:8567 {Hodgkin lymphoma, susceptibility to} 236000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131015-1 klhl10a 317719 KLHL10 spermatogenic failure 11 DOID:0070180 Spermatogenic failure 11 615081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131015-2 klhl10b.1 317719 KLHL10 spermatogenic failure 11 DOID:0070180 Spermatogenic failure 11 615081 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-99 klhl15 80311 KLHL15 Mental retardation, X-linked 103 300982 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-572 klhl24a 54800 KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss 617294 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1185 klhl24b 54800 KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss 617294 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120203-4 klhl3 26249 KLHL3 Pseudohypoaldosteronism, type IID 614495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050916-1 klhl40a 131377 KLHL40 nemaline myopathy 8 DOID:0110930 Nemaline myopathy 8, autosomal recessive 615348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060227-1 klhl40b 131377 KLHL40 nemaline myopathy 8 DOID:0110930 Nemaline myopathy 8, autosomal recessive 615348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-22 klhl41a 10324 KLHL41 nemaline myopathy 9 DOID:0110929 Nemaline myopathy 9 615731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9875 klhl41b 10324 KLHL41 nemaline myopathy 9 DOID:0110929 Nemaline myopathy 9 615731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130212-1 klhl7 55975 KLHL7 cold-induced sweating syndrome 3 DOID:0080331 Cold-induced sweating syndrome 3 617055 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130212-1 klhl7 55975 KLHL7 retinitis pigmentosa 42 DOID:0110386 Retinitis pigmentosa 42 612943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080521-3 kmt2a 4297 KMT2A Leukemia, myeloid/lymphoid or mixed-lineage 159555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080521-3 kmt2a 4297 KMT2A Wiedemann-Steiner syndrome 605130 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-376 kmt2ba 9757 KMT2B Dystonia 28, childhood-onset 617284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080521-1 kmt2bb 9757 KMT2B Dystonia 28, childhood-onset 617284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080520-3 kmt2ca 58508 KMT2C Kleefstra syndrome 2 617768 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-340 kmt2cb 58508 KMT2C Kleefstra syndrome 2 617768 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060223-2 kmt2d 8085 KMT2D Kabuki syndrome DOID:0060473 Kabuki syndrome 1 147920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4120 kmt2e 55904 KMT2E O'Donnell-Luria-Rodan syndrome 618512 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-22 kmt5b 51111 KMT5B autosomal dominant mental retardation 51 DOID:0080232 Mental retardation, autosomal dominant 51 617788 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-56 kng1 3827 KNG1 [High molecular weight kininogen deficiency] 228960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-56 kng1 3827 KNG1 [Kininogen deficiency] 228960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5437 knl1 57082 KNL1 primary autosomal recessive microcephaly 4 DOID:0070291 Microcephaly 4, primary, autosomal recessive 604321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-258 kptn 11133 KPTN autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 41 615637 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS Oculoectodermal syndrome, somatic 600268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS arteriovenous malformations of the brain DOID:0060688 Arteriovenous malformation of the brain, somatic 108010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS autoimmune lymphoproliferative syndrome type 4 DOID:0110117 RAS-associated autoimmune leukoproliferative disorder 614470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS cardiofaciocutaneous syndrome DOID:0060233 Cardiofaciocutaneous syndrome 2 615278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS lung cancer DOID:1324 Lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS Noonan syndrome 3 DOID:0060581 Noonan syndrome 3 609942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS pancreatic carcinoma DOID:4905 Pancreatic carcinoma, somatic 260350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS stomach cancer DOID:10534 Gastric cancer, somatic 137215 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-67 kras 3845 KRAS urinary bladder cancer DOID:11054 Bladder cancer, somatic 109800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-262 kremen1 83999 KREMEN1 Ectodermal dysplasia 13, hair/tooth type 617392 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-555 krit1 889 KRIT1 cerebral cavernous malformation 1 DOID:0080491 Cavernous malformations of CNS and retina 116860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-555 krit1 889 KRIT1 cerebral cavernous malformation 1 DOID:0080491 Cerebral cavernous malformations-1 116860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-555 krit1 889 KRIT1 cerebral cavernous malformation 1 DOID:0080491 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030411-6 krt18a.1 3875 KRT18 Cirrhosis, cryptogenic 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030411-6 krt18a.1 3875 KRT18 {Cirrhosis, noncryptogenic, susceptibility to} 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-205 krt18a.2 3875 KRT18 Cirrhosis, cryptogenic 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-205 krt18a.2 3875 KRT18 {Cirrhosis, noncryptogenic, susceptibility to} 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1508 krt18b 3875 KRT18 Cirrhosis, cryptogenic 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1508 krt18b 3875 KRT18 {Cirrhosis, noncryptogenic, susceptibility to} 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 Epidermolysis bullosa simplex-MCR 609352 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 Epidermolysis bullosa simplex-MP 131960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 Dowling-Degos disease DOID:0060256 Dowling-Degos disease 1 179850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 epidermolysis bullosa simplex DOID:4644 Epidermolysis bullosa simplex, recessive 1 601001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 epidermolysis bullosa simplex Dowling-Meara type DOID:0060735 Epidermolysis bullosa simplex, Dowling-Meara type 131760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 epidermolysis bullosa simplex generalized type DOID:0080511 Epidermolysis bullosa simplex, Koebner type 131900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-23 krt5 3852 KRT5 epidermolysis bullosa simplex localized type DOID:0080510 Epidermolysis bullosa simplex, Weber-Cockayne type 131800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030411-5 krt8 3856 KRT8 Cirrhosis, cryptogenic 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030411-5 krt8 3856 KRT8 {Cirrhosis, noncryptogenic, susceptibility to} 215600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-64 ky 339855 KY myofibrillar myopathy 7 DOID:0080098 Myopathy, myofibrillar, 7 617114 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-204 kynu 8942 KYNU ?Hydroxykynureninuria 236800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-204 kynu 8942 KYNU Vertebral, cardiac, renal, and limb defects syndrome 2 617661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM Corpus callosum, partial agenesis of 304100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus due to aqueductal stenosis 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus with Hirschsprung disease 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM MASA syndrome DOID:0060246 CRASH syndrome 303350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-10 l1cama 3897 L1CAM MASA syndrome DOID:0060246 MASA syndrome 303350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM Corpus callosum, partial agenesis of 304100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus due to aqueductal stenosis 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM hydrocephalus DOID:10908 Hydrocephalus with Hirschsprung disease 307000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM MASA syndrome DOID:0060246 CRASH syndrome 303350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-512 l1camb 3897 L1CAM MASA syndrome DOID:0060246 MASA syndrome 303350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090319-6 l2hgdh 79944 L2HGDH L-2-hydroxyglutaric aciduria DOID:0050574 L-2-hydroxyglutaric aciduria 236792 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060118-1 lama1 284217 LAMA1 Poretti-Boltshauser syndrome 615960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060119-1 lama2 3908 LAMA2 Muscular dystrophy, limb-girdle, autosomal recessive 23 618138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060119-1 lama2 3908 LAMA2 congenital merosin-deficient muscular dystrophy 1A DOID:0110636 Muscular dystrophy, congenital, merosin deficient or partially deficient 607855 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-475 lama3 3909 LAMA3 Laryngoonychocutaneous syndrome 245660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-475 lama3 3909 LAMA3 junctional epidermolysis bullosa Herlitz type DOID:0060737 Epidermolysis bullosa, junctional, Herlitz type 226700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-475 lama3 3909 LAMA3 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, generalized atrophic benign 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-213 lama4 3910 LAMA4 dilated cardiomyopathy 1JJ DOID:0110438 Cardiomyopathy, dilated, 1JJ 615235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021226-1 lamb1a 3912 LAMB1 lissencephaly DOID:0050453 Lissencephaly 5 615191 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-197 lamb1b 3912 LAMB1 lissencephaly DOID:0050453 Lissencephaly 5 615191 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081030-4 lamb2 3913 LAMB2 nephrotic syndrome type 5 DOID:0080380 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081030-4 lamb2 3913 LAMB2 Pierson syndrome DOID:0060852 Pierson syndrome 609049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110222-3 lamc2 3918 LAMC2 junctional epidermolysis bullosa Herlitz type DOID:0060737 Epidermolysis bullosa, junctional, Herlitz type 226700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110222-3 lamc2 3918 LAMC2 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 Epidermolysis bullosa, junctional, non-Herlitz type 226650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-121 lamc3 10319 LAMC3 Cortical malformations, occipital 614115 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030729-9 lamp2 3920 LAMP2 Danon disease DOID:0050437 Danon disease 300257 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-63 lamtor2 28956 LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein 610798 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061204-1 large1 9215 LARGE1 congenital muscular dystrophy-dystroglycanopathy type A6 DOID:0111242 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061204-1 large1 9215 LARGE1 muscular dystrophy-dystroglycanopathy type B6 DOID:0110637 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6896 larp7 51574 LARP7 Alazami syndrome 615071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-16 lars1a 51520 LARS1 ?Infantile liver failure syndrome 1 615438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030114-7 lars1b 51520 LARS1 ?Infantile liver failure syndrome 1 615438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-3 lars2 23395 LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia 617021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-3 lars2 23395 LARS2 Perrault syndrome DOID:0050857 Perrault syndrome 4 615300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3625 las1l 81887 LAS1L Wilson-Turner syndrome DOID:0060814 Wilson-Turner syndrome 309585 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-181226-1 lat 27040 LAT Immunodeficiency 52 617514 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-11 lbr 3930 LBR Greenberg skeletal dysplasia 215140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-11 lbr 3930 LBR Pelger-Huet anomaly with mild skeletal anomalies 618019 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-11 lbr 3930 LBR ?Reynolds syndrome 613471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030804-11 lbr 3930 LBR Pelger-Huet anomaly DOID:9631 Pelger-Huet anomaly 169400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-268 lca5 167691 LCA5 Leber congenital amaurosis 5 DOID:0110215 Leber congenital amaurosis 5 604537 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010716-3 lcat 3931 LCAT Fish-eye disease 136120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010716-3 lcat 3931 LCAT Norum disease DOID:1391 Norum disease 245900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040617-1 lck 3932 LCK ?Immunodeficiency 22 615758 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-434 lct 3938 LCT Lactase deficiency, congenital 223000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040121-6 ldb3a 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Cardiomyopathy, dilated, 1C, with or without LVNC 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040121-6 ldb3a 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Cardiomyopathy, hypertrophic, 24 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040121-6 ldb3a 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Left ventricular noncompaction 3 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040121-6 ldb3a 11155 LDB3 myofibrillar myopathy 4 DOID:0080095 Myopathy, myofibrillar, 4 609452 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6032 ldb3b 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Cardiomyopathy, dilated, 1C, with or without LVNC 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6032 ldb3b 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Cardiomyopathy, hypertrophic, 24 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6032 ldb3b 11155 LDB3 dilated cardiomyopathy 1C DOID:0110423 Left ventricular noncompaction 3 601493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6032 ldb3b 11155 LDB3 myofibrillar myopathy 4 DOID:0080095 Myopathy, myofibrillar, 4 609452 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-5 ldha 3939 LDHA Glycogen storage disease XI 612933 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-6 ldhba 3945 LDHB [Lactate dehydrogenase-B deficiency] 614128 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-176 ldhbb 3945 LDHB [Lactate dehydrogenase-B deficiency] 614128 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6140 ldhd 197257 LDHD D-lactic aciduria 245450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031217-1 ldlra 3949 LDLR familial hypercholesterolemia DOID:13810 Hypercholesterolemia, familial, 1 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031217-1 ldlra 3949 LDLR familial hypercholesterolemia DOID:13810 LDL cholesterol level QTL2 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030328-13 ldlrap1a 26119 LDLRAP1 autosomal recessive hypercholesterolemia DOID:0090105 Hypercholesterolemia, familial, 4 603813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1012 ldlrap1b 26119 LDLRAP1 autosomal recessive hypercholesterolemia DOID:0090105 Hypercholesterolemia, familial, 4 603813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1254 ldlrb 3949 LDLR familial hypercholesterolemia DOID:13810 Hypercholesterolemia, familial, 1 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1254 ldlrb 3949 LDLR familial hypercholesterolemia DOID:13810 LDL cholesterol level QTL2 143890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-26 lef1 51176 LEF1 Sebaceous tumors, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-490 lemd3 23592 LEMD3 Buschke-Ollendorff syndrome 166700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-490 lemd3 23592 LEMD3 Osteopoikilosis with or without melorheostosis 166700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081001-1 lepa 3952 LEP Obesity, morbid, due to leptin deficiency 614962 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-183 lepb 3952 LEP Obesity, morbid, due to leptin deficiency 614962 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-1 lepr 3953 LEPR Obesity, morbid, due to leptin receptor deficiency 614963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980605-16 lfng 3955 LFNG spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 3, autosomal recessive 609813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050318-2 lgals2a 3957 LGALS2 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1590 lgals2b 3957 LGALS2 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1731 lgi1a 9211 LGI1 familial temporal lobe epilepsy 1 DOID:0060748 Epilepsy, familial temporal lobe, 1 600512 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060217-1 lgi1b 9211 LGI1 familial temporal lobe epilepsy 1 DOID:0060748 Epilepsy, familial temporal lobe, 1 600512 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111013-1 lgr4 55366 LGR4 {Bone mineral density, low, susceptibility to} 615311 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-2 lhb 3972 LHB hypogonadotropic hypogonadism 23 with or without anosmia DOID:0090091 Hypogonadotropic hypogonadism 23 with or without anosmia 228300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-3 lhcgr 3973 LHCGR Leydig cell adenoma, somatic, with precocious puberty 176410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-3 lhcgr 3973 LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism 238320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-3 lhcgr 3973 LHCGR Leydig cell hypoplasia with pseudohermaphroditism 238320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-3 lhcgr 3973 LHCGR Luteinizing hormone resistance, female 238320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040806-3 lhcgr 3973 LHCGR Precocious puberty, male 176410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110131-8 lhfpl5a 222662 LHFPL5 autosomal recessive nonsyndromic deafness 67 DOID:0110518 Deafness, autosomal recessive 67 610265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-51 lhfpl5b 222662 LHFPL5 autosomal recessive nonsyndromic deafness 67 DOID:0110518 Deafness, autosomal recessive 67 610265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-131 lhx3 8022 LHX3 hypopituitarism DOID:9406 Pituitary hormone deficiency, combined, 3 221750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060728-1 lhx4 89884 LHX4 hypopituitarism DOID:9406 Pituitary hormone deficiency, combined, 4 262700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1528 lias 11019 LIAS Hyperglycinemia, lactic acidosis, and seizures 614462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-16 lifra 3977 LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080107-2 lifrb 3977 LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070820-10 lig4 3981 LIG4 DNA ligase IV deficiency DOID:0060021 LIG4 syndrome 606593 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070820-10 lig4 3981 LIG4 multiple myeloma DOID:9538 {Multiple myeloma, resistance to} 254500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-398 lim2.1 3982 LIM2 cataract 19 multiple types DOID:0110263 Cataract 19, multiple types 615277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060124-1 lim2.2 3982 LIM2 cataract 19 multiple types DOID:0110263 Cataract 19, multiple types 615277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-327 lim2.3 3982 LIM2 cataract 19 multiple types DOID:0110263 Cataract 19, multiple types 615277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-104 lim2.4 3982 LIM2 cataract 19 multiple types DOID:0110263 Cataract 19, multiple types 615277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-94 lim2.5 3982 LIM2 cataract 19 multiple types DOID:0110263 Cataract 19, multiple types 615277 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001120-1 lima1a 51474 LIMA1 [Low density lipoprotein cholesterol level QTL 8] 618079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4116 lima1b 51474 LIMA1 [Low density lipoprotein cholesterol level QTL 8] 618079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-56 lims2 55679 LIMS2 autosomal recessive limb-girdle muscular dystrophy type 2W DOID:0110288 ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 616827 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080327-16 lingo1a 84894 LINGO1 Mental retardation, autosomal recessive 64 618103 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-136 lingo1b 84894 LINGO1 Mental retardation, autosomal recessive 64 618103 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101019-1 lins1 55180 LINS1 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 27 614340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1361 lipca 3990 LIPC Hepatic lipase deficiency 614025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1361 lipca 3990 LIPC [High density lipoprotein cholesterol level QTL 12] 612797 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1361 lipca 3990 LIPC type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120608-1 lipcb 3990 LIPC Hepatic lipase deficiency 614025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120608-1 lipcb 3990 LIPC [High density lipoprotein cholesterol level QTL 12] 612797 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120608-1 lipcb 3990 LIPC type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-734 lipea 3991 LIPE familial partial lipodystrophy type 6 DOID:0070206 Lipodystrophy, familial partial, type 6 615980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-71 lipeb 3991 LIPE familial partial lipodystrophy type 6 DOID:0070206 Lipodystrophy, familial partial, type 6 615980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-112 lipt1 51601 LIPT1 Lipoyltransferase 1 deficiency 616299 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-18 lipt2 387787 LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-23 litaf 9516 LITAF Charcot-Marie-Tooth disease type 1C DOID:0110151 Charcot-Marie-Tooth disease, type 1C 601098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060201-4 lman1 3998 LMAN1 Combined factor V and VIII deficiency 227300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040715-4 lman2la 81562 LMAN2L ?Mental retardation, autosomal recessive, 52 616887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-256 lman2lb 81562 LMAN2L ?Mental retardation, autosomal recessive, 52 616887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 Hypoplastic or aplastic tibia with polydactyly 188740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 Laurin-Sandrow syndrome 135750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 acheiropody DOID:0050603 Acheiropody 200500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 polydactyly DOID:1148 Polydactyly, preaxial type II 174500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 polydactyly DOID:1148 Triphalangeal thumb-polysyndactyly syndrome 174500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 polydactyly DOID:1148 Triphalangeal thumb, type I 174500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090128-4 lmbr1 64327 LMBR1 syndactyly DOID:11193 Syndactyly, type IV 186200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-36 lmbrd1 55788 LMBRD1 methylmalonic aciduria and homocystinuria type cblF DOID:0050717 Methylmalonic aciduria and homocystinuria, cblF type 277380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121031-2 lmf1 64788 LMF1 Lipase deficiency, combined 246650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA Heart-hand syndrome, Slovenian type 610140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA Malouf syndrome 212112 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA Mandibuloacral dysplasia 248370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA autosomal dominant Emery-Dreifuss muscular dystrophy 2 DOID:0070247 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 181350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA autosomal recessive Emery-Dreifuss muscular dystrophy 3 DOID:0070248 Emery-Dreifuss muscular dystrophy 3, autosomal recessive 616516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA Charcot-Marie-Tooth disease type 2B1 DOID:0110156 Charcot-Marie-Tooth disease, type 2B1 605588 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA congenital muscular dystrophy due to LMNA mutation DOID:0110640 Muscular dystrophy, congenital 613205 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA dilated cardiomyopathy 1A DOID:0110425 Cardiomyopathy, dilated, 1A 115200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA familial partial lipodystrophy type 2 DOID:0070202 Lipodystrophy, familial partial, type 2 151660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA lethal restrictive dermopathy DOID:0060762 Restrictive dermopathy, lethal 275210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-3 lmna 4000 LMNA progeria DOID:3911 Hutchinson-Gilford progeria 176670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020424-2 lmnb1 4001 LMNB1 adult-onset autosomal dominant demyelinating leukodystrophy DOID:0060785 Leukodystrophy, adult-onset, autosomal dominant 169500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990630-13 lmnb2 84823 LMNB2 ?Epilepsy, progressive myoclonic, 9 616540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990630-13 lmnb2 84823 LMNB2 {Lipodystrophy, partial, acquired, susceptibility to} 608709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-6 lmo1 4004 LMO1 Leukemia, T-cell acute lymphoblastic 186921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-419 lmo2 4005 LMO2 Leukemia, acute T-cell 180385 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-353 lmod3 56203 LMOD3 nemaline myopathy 10 DOID:0110931 Nemaline myopathy 10 616165 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-3 lmx1ba 4010 LMX1B nail-patella syndrome DOID:9467 Nail-patella syndrome 161200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-2 lmx1bb 4010 LMX1B nail-patella syndrome DOID:9467 Nail-patella syndrome 161200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9455 lnpk 80856 LNPK Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4006 lonp1 9361 LONP1 CODAS syndrome DOID:0111274 CODAS syndrome 600373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2398 loxa 4015 LOX Aortic aneurysm, familial thoracic 10 617168 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150820-1 loxb 4015 LOX Aortic aneurysm, familial thoracic 10 617168 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091112-20 loxhd1a 125336 LOXHD1 autosomal recessive nonsyndromic deafness 77 DOID:0110525 Deafness, autosomal recessive 77 613079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-370 loxhd1b 125336 LOXHD1 autosomal recessive nonsyndromic deafness 77 DOID:0110525 Deafness, autosomal recessive 77 613079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-693 loxl1 4016 LOXL1 exfoliation syndrome DOID:13641 {Exfoliation syndrome, susceptibility to} 177650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-343 lpar6a 10161 LPAR6 hypotrichosis 8 DOID:0110705 Hypotrichosis 8 278150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-343 lpar6a 10161 LPAR6 hypotrichosis 8 DOID:0110705 Woolly hair, autosomal recessive 1, with or without hypotrichosis 278150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-67 lpar6b 10161 LPAR6 hypotrichosis 8 DOID:0110705 Hypotrichosis 8 278150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-67 lpar6b 10161 LPAR6 hypotrichosis 8 DOID:0110705 Woolly hair, autosomal recessive 1, with or without hypotrichosis 278150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-2 lpin1 23175 LPIN1 myoglobinuria DOID:0080108 Myoglobinuria, acute recurrent, autosomal recessive 268200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-153 lpin2 9663 LPIN2 Majeed syndrome 609628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-139 lpl 4023 LPL familial combined hyperlipidemia DOID:13809 Combined hyperlipidemia, familial 144250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-139 lpl 4023 LPL familial lipoprotein lipase deficiency DOID:14118 [High density lipoprotein cholesterol level QTL 11] 238600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-139 lpl 4023 LPL familial lipoprotein lipase deficiency DOID:14118 Lipoprotein lipase deficiency 238600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-918 lpp 4026 LPP Lipoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-918 lpp 4026 LPP acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060720-1 lrata 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Leber congenital amaurosis 14 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060720-1 lrata 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Retinal dystrophy, early-onset severe 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060720-1 lrata 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Retinitis pigmentosa, juvenile 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-31 lratb.1 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Leber congenital amaurosis 14 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-31 lratb.1 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Retinal dystrophy, early-onset severe 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-31 lratb.1 9227 LRAT Leber congenital amaurosis 14 DOID:0110188 Retinitis pigmentosa, juvenile 613341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-19 lrba 987 LRBA common variable immunodeficiency DOID:12177 Immunodeficiency, common variable, 8, with autoimmunity 614700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-75 lrig2 9860 LRIG2 urofacial syndrome DOID:0050816 Urofacial syndrome 2 615112 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080723-63 lrit3a 345193 LRIT3 congenital stationary night blindness 1F DOID:0110864 Night blindness, congenital stationary (complete), 1F, autosomal recessive 615058 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-130 lrit3b 345193 LRIT3 congenital stationary night blindness 1F DOID:0110864 Night blindness, congenital stationary (complete), 1F, autosomal recessive 615058 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-285 lrmda 83938 LRMDA oculocutaneous albinism type VII DOID:0070100 Albinism, oculocutaneous, type VII 615179 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7889 lrp1aa 4035 LRP1 ?Keratosis pilaris atrophicans 604093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7126 lrp1ab 4035 LRP1 ?Keratosis pilaris atrophicans 604093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-2 lrp2a 4036 LRP2 Donnai-Barrow syndrome DOID:0090144 Donnai-Barrow syndrome 222448 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111115-1 lrp2b 4036 LRP2 Donnai-Barrow syndrome DOID:0090144 Donnai-Barrow syndrome 222448 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130129-1 lrp4 4038 LRP4 Cenani-Lenz syndactyly syndrome DOID:0090015 Cenani-Lenz syndactyly syndrome 212780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130129-1 lrp4 4038 LRP4 congenital myasthenic syndrome 17 DOID:0110674 ?Myasthenic syndrome, congenital, 17 616304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130129-1 lrp4 4038 LRP4 sclerosteosis 2 DOID:0060757 Sclerosteosis 2 614305 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 [Bone mineral density variability 1] 601884 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 Hyperostosis, endosteal 144750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 Osteosclerosis 144750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 Polycystic liver disease 4 with or without kidney cysts 617875 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 autosomal dominant osteopetrosis 1 DOID:0110937 Osteopetrosis, autosomal dominant 1 607634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 exudative vitreoretinopathy DOID:0050535 Exudative vitreoretinopathy 4 601813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 osteoporosis DOID:11476 {Osteoporosis} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 osteoporosis-pseudoglioma syndrome DOID:0060849 Osteoporosis-pseudoglioma syndrome 259770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050518-2 lrp5 4041 LRP5 Worth's syndrome DOID:0080037 van Buchem disease, type 2 607636 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-1 lrp6 4040 LRP6 Tooth agenesis, selective, 7 616724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090821-1 lrp6 4040 LRP6 coronary artery disease DOID:3393 {Coronary artery disease, autosomal dominant, 2} 610947 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-134 lrp8 7804 LRP8 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5871 lrpap1 4043 LRPAP1 myopia DOID:11830 Myopia 23, autosomal recessive 615431 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7887 lrpprc 10128 LRPPRC French Canadian Leigh disease DOID:0111180 Leigh syndrome, French-Canadian type 220111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081223-1 lrrc56 115399 LRRC56 Ciliary dyskinesia, primary, 39 618254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040827-2 lrrc6 23639 LRRC6 primary ciliary dyskinesia 19 DOID:0110608 Ciliary dyskinesia, primary, 19 614935 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5853 lrrc8aa 56262 LRRC8A agammaglobulinemia 5 DOID:0060027 ?Agammaglobulinemia 5 613506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-43 lrrc8ab 56262 LRRC8A agammaglobulinemia 5 DOID:0060027 ?Agammaglobulinemia 5 613506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-6 lrrk2 120892 LRRK2 Parkinson's disease 8 DOID:0060371 {Parkinson disease 8} 607060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-97 lrsam1 90678 LRSAM1 Charcot-Marie-Tooth disease axonal type 2P DOID:0110169 Charcot-Marie-Tooth disease, axonal, type 2P 614436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-7 lss 4047 LSS cataract 44 DOID:0110267 Cataract 44 616509 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-7 lss 4047 LSS hypotrichosis 14 DOID:0080582 Hypotrichosis 14 618275 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-3 lta 4049 LTA {Leprosy, susceptibility to, 4} 610988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-3 lta 4049 LTA {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-3 lta 4049 LTA {Psoriatic arthritis, susceptibility to} 607507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-130 ltbp3 4054 LTBP3 Geleophysic dysplasia 3 617809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-130 ltbp3 4054 LTBP3 brachyolmia-amelogenesis imperfecta syndrome DOID:0090143 Dental anomalies and short stature 601216 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-181009-2 ltbp4 8425 LTBP4 autosomal recessive cutis laxa type IC DOID:0070139 Cutis laxa, autosomal recessive, type IC 613177 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-32 ltc4s 4056 LTC4S Leukotriene C4 synthase deficiency 614037 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-115 ltk 238 ALK {Neuroblastoma, susceptibility to, 3} 613014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-115 ltk 4058 LTK {Neuroblastoma, susceptibility to, 3} 613014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090807-1 lyl1 4066 LYL1 Leukemia, T-cell acute lymphoblastoid 151440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-295 lyrm4 57128 LYRM4 combined oxidative phosphorylation deficiency DOID:0060286 ?Combined oxidative phosphorylation deficiency 19 615595 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-32 lyrm7 90624 LYRM7 mitochondrial complex III deficiency nuclear type 8 DOID:0080117 Mitochondrial complex III deficiency, nuclear type 8 615838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070702-1 lyst 1130 LYST Chediak-Higashi syndrome DOID:2935 Chediak-Higashi syndrome 214500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020515-2 lyz 4069 LYZ familial visceral amyloidosis DOID:0050636 Amyloidosis, renal 105200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-945 lztfl1 54585 LZTFL1 Bardet-Biedl syndrome 17 DOID:0110139 Bardet-Biedl syndrome 17 615994 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9564 lztr1 8216 LZTR1 neurilemmomatosis DOID:3204 {Schwannomatosis-2, susceptibility to} 615670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9564 lztr1 8216 LZTR1 Noonan syndrome 10 DOID:0060588 Noonan syndrome 10 616564 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9564 lztr1 8216 LZTR1 Noonan syndrome 2 DOID:0060580 Noonan syndrome 2 605275 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-431 lzts1 11178 LZTS1 esophageal cancer DOID:5041 Esophageal squamous cell carcinoma, somatic 133239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020516-1 mab21l1 4081 MAB21L1 Cerebellar, ocular, craniofacial, and genital syndrome 618479 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011101-3 mab21l2 10586 MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome 615877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3606 macf1a 23499 MACF1 Lissencephaly 9 with complex brainstem malformation 618325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1081 mad1l1 8379 MAD1L1 Lymphoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1081 mad1l1 8379 MAD1L1 prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-61 mad2l2 10459 MAD2L2 Fanconi anemia complementation group V DOID:0111080 ?Fanconi anemia, complementation group V 617243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010605-2 mafa 4094 MAF Ayme-Gripp syndrome 601088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010605-2 mafa 4094 MAF cataract 21 multiple types DOID:0110256 Cataract 21, multiple types 610202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010605-3 mafaa 389692 MAFA Insulinomatosis and diabetes mellitus 147630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-38 mafb 4094 MAF Ayme-Gripp syndrome 601088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-38 mafb 4094 MAF cataract 21 multiple types DOID:0110256 Cataract 21, multiple types 610202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-515 mafba 9935 MAFB Duane retraction syndrome 3 617041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-515 mafba 9935 MAFB Multicentric carpotarsal osteolysis syndrome 166300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010605-4 mafbb 9935 MAFB Duane retraction syndrome 3 617041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010605-4 mafbb 9935 MAFB Multicentric carpotarsal osteolysis syndrome 166300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-24 mag 4099 MAG hereditary spastic paraplegia 75 DOID:0110820 Spastic paraplegia 75, autosomal recessive 616680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050810-4 magi2a 9863 MAGI2 nephrotic syndrome type 15 DOID:0080271 Nephrotic syndrome, type 15 617609 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-6 magi2b 9863 MAGI2 nephrotic syndrome type 15 DOID:0080271 Nephrotic syndrome, type 15 617609 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3667 magt1 84061 MAGT1 Congenital disorder of glycosylation, type Icc 301031 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3667 magt1 84061 MAGT1 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia DOID:0080319 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7279 mak 4117 MAK retinitis pigmentosa 62 DOID:0110380 Retinitis pigmentosa 62 614181 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-156 malt1 10892 MALT1 Immunodeficiency 12 615468 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-799 maml2 84441 MAML2 Mucoepidermoid salivary gland carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-34 man1b1a 11253 MAN1B1 non-syndromic intellectual disability DOID:0050889 Mental retardation, autosomal recessive 15 614202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-482 man1b1b 11253 MAN1B1 non-syndromic intellectual disability DOID:0050889 Mental retardation, autosomal recessive 15 614202 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-52 man2b1 4125 MAN2B1 alpha-mannosidosis DOID:3413 Mannosidosis, alpha-, types I and II 248500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-721 manba 4126 MANBA beta-mannosidosis DOID:3633 Mannosidosis, beta 248510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040329-3 mao 4128 MAOA Brunner Syndrome DOID:0060693 {Antisocial behavior} 300615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040329-3 mao 4128 MAOA Brunner Syndrome DOID:0060693 Brunner syndrome 300615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111102-3 map11 55262 MAP11 ?Microcephaly 25, primary, autosomal recessive 618351 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2759 map2k1 5604 MAP2K1 cardiofaciocutaneous syndrome DOID:0060233 Cardiofaciocutaneous syndrome 3 615279 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041027-1 map2k2a 5605 MAP2K2 cardiofaciocutaneous syndrome DOID:0060233 Cardiofaciocutaneous syndrome 4 615280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-34 map2k2b 5605 MAP2K2 cardiofaciocutaneous syndrome DOID:0060233 Cardiofaciocutaneous syndrome 4 615280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-412 map3k1 4214 MAP3K1 46 XY gonadal dysgenesis DOID:14448 46XY sex reversal 6 613762 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-135 map3k7 6885 MAP3K7 Cardiospondylocarpofacial syndrome 157800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-135 map3k7 6885 MAP3K7 Frontometaphyseal dysplasia 2 617137 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100316-8 map3k8 1326 MAP3K8 lung cancer DOID:1324 Lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101025-1 mapk8ip1a 9479 MAPK8IP1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170525-1 mapk8ip1b 9479 MAPK8IP1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090303-6 mapk8ip3 23162 MAPK8IP3 Neurodevelopmental disorder with or without variable brain abnormalities 618443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-124 mapkapk3 7867 MAPKAPK3 patterned macular dystrophy 3 DOID:0060865 ?Macular dystrophy, patterned, 3 617111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120207-1 mapkbp1 23005 MAPKBP1 nephronophthisis 20 DOID:0111127 Nephronophthisis 20 617271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-41 mapre2 10982 MAPRE2 Symmetric circumferential skin creases, congenital, 2 616734 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-1 mapta 4137 MAPT Supranuclear palsy, progressive atypical 260540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-1 mapta 4137 MAPT frontotemporal dementia DOID:9255 Dementia, frontotemporal, with or without parkinsonism 600274 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-1 mapta 4137 MAPT late onset Parkinson's disease DOID:0060892 {Parkinson disease, susceptibility to} 168600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-1 mapta 4137 MAPT Pick's disease DOID:11870 Pick disease 172700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-1 mapta 4137 MAPT progressive supranuclear palsy DOID:678 Supranuclear palsy, progressive 601104 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-2 maptb 4137 MAPT Supranuclear palsy, progressive atypical 260540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-2 maptb 4137 MAPT frontotemporal dementia DOID:9255 Dementia, frontotemporal, with or without parkinsonism 600274 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-2 maptb 4137 MAPT late onset Parkinson's disease DOID:0060892 {Parkinson disease, susceptibility to} 168600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-2 maptb 4137 MAPT Pick's disease DOID:11870 Pick disease 172700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081027-2 maptb 4137 MAPT progressive supranuclear palsy DOID:678 Supranuclear palsy, progressive 601104 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6232 mark3a 4140 MARK3 ?Visual impairment and progressive phthisis bulbi 618283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-80 mark3b 4140 MARK3 ?Visual impairment and progressive phthisis bulbi 618283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-83 mars1 4141 MARS1 Interstitial lung and liver disease 615486 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-83 mars1 4141 MARS1 Charcot-Marie-Tooth disease axonal type 2U DOID:0110173 Charcot-Marie-Tooth disease, axonal, type 2U 616280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111201-1 mars2 92935 MARS2 ?Combined oxidative phosphorylation deficiency 25 616430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111201-1 mars2 92935 MARS2 spastic ataxia 3 DOID:0050942 Spastic ataxia 3, autosomal recessive 611390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-59 marveld2a 153562 MARVELD2 autosomal recessive nonsyndromic deafness 49 DOID:0110506 Deafness, autosomal recessive 49 610153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-54 marveld2b 153562 MARVELD2 autosomal recessive nonsyndromic deafness 49 DOID:0110506 Deafness, autosomal recessive 49 610153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110421-4 masp1 5648 MASP1 3MC syndrome 1 DOID:0060575 3MC syndrome 1 257920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-154 masp2 10747 MASP2 MASP2 deficiency 613791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121214-221 mast1a 22983 MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 618273 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131025-2 mast1b 22983 MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 618273 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6127 mat1a 4143 MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6127 mat1a 4143 MAT1A Methionine adenosyltransferase deficiency, autosomal recessive 250850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-21 matn3a 4148 MATN3 {Osteoarthritis susceptibility 2} 140600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-21 matn3a 4148 MATN3 ?Spondyloepimetaphyseal dysplasia 608728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-21 matn3a 4148 MATN3 multiple epiphyseal dysplasia 5 DOID:0070299 Epiphyseal dysplasia, multiple, 5 607078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050221-9 matn3b 4148 MATN3 {Osteoarthritis susceptibility 2} 140600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050221-9 matn3b 4148 MATN3 ?Spondyloepimetaphyseal dysplasia 608728 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050221-9 matn3b 4148 MATN3 multiple epiphyseal dysplasia 5 DOID:0070299 Epiphyseal dysplasia, multiple, 5 607078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-40 matr3l1.1 9782 MATR3 amyotrophic lateral sclerosis type 21 DOID:0060212 Amyotrophic lateral sclerosis 21 606070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-152 max 4149 MAX pheochromocytoma DOID:0050771 {Pheochromocytoma, susceptibility to} 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-125 mbd5 55777 MBD5 autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 Mental retardation, autosomal dominant 1 156200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000427-2 mbl2 4153 MBL2 {Chronic infections, due to MBL deficiency} 614372 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1516 mboat7 79143 MBOAT7 Mental retardation, autosomal recessive 57 617188 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4909 mbtps1 8720 MBTPS1 ?Spondyloepiphyseal dysplasia, Kondo-Fu type 618392 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6598 mbtps2 51360 MBTPS2 IFAP syndrome with or without BRESHECK syndrome 308205 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6598 mbtps2 51360 MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked 308800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6598 mbtps2 51360 MBTPS2 ?Olmsted syndrome, X-linked 300918 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6598 mbtps2 51360 MBTPS2 Osteogenesis imperfecta, type XIX 301014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R [Analgesia from kappa-opioid receptor agonist, female-specific] 613098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R {Melanoma, cutaneous malignant, 5} 613099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R [Skin/hair/eye pigmentation 2, blond hair/fair skin] 266300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R [Skin/hair/eye pigmentation 2, red hair/fair skin] 266300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R {UV-induced skin damage} 266300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-1 mc1r 4157 MC1R oculocutaneous albinism type II DOID:0070096 {Albinism, oculocutaneous, type II, modifier of} 203200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-2 mc2r 4158 MC2R Glucocorticoid deficiency, due to ACTH unresponsiveness 202200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030502-3 mc3r 4159 MC3R {Obesity, severe, susceptibility to, BMIQ9} 602025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021223-2 mc4r 4160 MC4R Obesity (BMIQ20) 618406 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021223-2 mc4r 4160 MC4R {Obesity, resistence to (BMIQ20)} 618306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141210-1 mcc 4163 MCC colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-450 mccc1 56922 MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2493 mccc2 64087 MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-368 mcee 84693 MCEE Methylmalonyl-CoA epimerase deficiency 251120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-8 mcfd2 90411 MCFD2 Factor V and factor VIII, combined deficiency of 613625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-24 mcm2 4171 MCM2 autosomal dominant nonsyndromic deafness 70 DOID:0110592 ?Deafness, autosomal dominant 70 616968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040715-1 mcm3ap 8888 MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9544 mcm4 4173 MCM4 Immunodeficiency 54 609981 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021209-1 mcm5 4174 MCM5 Meier-Gorlin syndrome 8 DOID:0080255 ?Meier-Gorlin syndrome 8 617564 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-6 mcm6 4175 MCM6 lactose intolerance DOID:10604 Lactase persistence/nonpersistence 223100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120927-1 mcm8 84515 MCM8 ?Premature ovarian failure 10 612885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-310 mcm9 254394 MCM9 ovarian dysgenesis 4 DOID:0080496 Ovarian dysgenesis 4 616185 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2704 mcoln1a 57192 MCOLN1 mucolipidosis type IV DOID:0080490 Mucolipidosis IV 252650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130514-1 mcoln1b 57192 MCOLN1 mucolipidosis type IV DOID:0080490 Mucolipidosis IV 252650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-6122 mcph1 79648 MCPH1 primary autosomal recessive microcephaly 1 DOID:0070285 Microcephaly 1, primary, autosomal recessive 251200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2143 mdh2 4191 MDH2 early infantile epileptic encephalopathy 51 DOID:0080433 Epileptic encephalopathy, early infantile, 51 617339 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-153 mdm2 4193 MDM2 {Accelerated tumor formation, susceptibility to} 614401 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-123 mecom 2122 MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 616738 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 {Autism susceptibility, X-linked 3} 300496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 Encephalopathy, neonatal severe 300673 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 Rett syndrome DOID:1206 Rett syndrome 312750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 Rett syndrome DOID:1206 Rett syndrome, atypical 312750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 Rett syndrome DOID:1206 Rett syndrome, preserved speech variant 312750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 syndromic X-linked intellectual disability Lubs type DOID:0060799 Mental retardation, X-linked syndromic, Lubs type 300260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7190 mecp2 4204 MECP2 X-linked intellectual disability-psychosis-macroorchidism syndrome DOID:0060827 Mental retardation, X-linked, syndromic 13 300055 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-399 mecr 51102 MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060125-1 med12 9968 MED12 Lujan-Fryns syndrome 309520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060125-1 med12 9968 MED12 FG syndrome DOID:14711 Opitz-Kaveggia syndrome 305450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060125-1 med12 9968 MED12 Ohdo syndrome DOID:0060289 Ohdo syndrome, X-linked 300895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040302-1 med17 9440 MED17 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly DOID:0111262 Microcephaly, postnatal progressive, with seizures and brain atrophy 613668 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-82 med23 9439 MED23 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 18 614249 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2850 med25 81857 MED25 Basel-Vanagait-Smirin-Yosef syndrome 616449 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2850 med25 81857 MED25 Charcot-Marie-Tooth disease type 2B2 DOID:0110179 ?Charcot-Marie-Tooth disease, type 2B2 605589 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-163 mef2aa 4205 MEF2A coronary artery disease DOID:3393 {Coronary artery disease, autosomal dominant, 1} 608320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120614-2 mef2ab 4205 MEF2A coronary artery disease DOID:3393 {Coronary artery disease, autosomal dominant, 1} 608320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-253 mef2ca 4208 MEF2C autosomal dominant mental retardation 20 DOID:0070050 Chromosome 5q14.3 deletion syndrome 613443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-253 mef2ca 4208 MEF2C autosomal dominant mental retardation 20 DOID:0070050 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040901-7 mef2cb 4208 MEF2C autosomal dominant mental retardation 20 DOID:0070050 Chromosome 5q14.3 deletion syndrome 613443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040901-7 mef2cb 4208 MEF2C autosomal dominant mental retardation 20 DOID:0070050 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080506-1 megf10 84466 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 614399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080506-1 megf10 84466 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant 614399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090730-1 megf8 1954 MEGF8 Carpenter syndrome DOID:0060234 Carpenter syndrome 2 614976 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120104-8 meiob 254528 MEIOB spermatogenic failure 22 DOID:0070177 ?Spermatogenic failure 22 617706 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020122-2 meis2a 4212 MEIS2 Cleft palate, cardiac defects, and mental retardation 600987 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-23 meis2b 4212 MEIS2 Cleft palate, cardiac defects, and mental retardation 600987 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 Adrenal adenoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 Angiofibroma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 Carcinoid tumor of lung ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 Lipoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 Parathyroid adenoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-12 men1 4221 MEN1 multiple endocrine neoplasia type 1 DOID:10017 Multiple endocrine neoplasia 1 131100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-149 meox1 4222 MEOX1 Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome 2 214300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-1 mertka 10461 MERTK retinitis pigmentosa 38 DOID:0110367 Retinitis pigmentosa 38 613862 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000406-8 mespaa 145873 MESP2 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 2, autosomal recessive 608681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090817-2 mespab 145873 MESP2 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 2, autosomal recessive 608681 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-1 met 4233 MET {Osteofibrous dysplasia, susceptibility to} 607278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-1 met 4233 MET autosomal recessive nonsyndromic deafness 97 DOID:0110539 ?Deafness, autosomal recessive 97 616705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-1 met 4233 MET hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, childhood type, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-1 met 4233 MET papillary renal cell carcinoma DOID:4465 Renal cell carcinoma, papillary, 1, familial and somatic 605074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-60 mettl13 51603 EEF1AKNMT ?{Deafness, autosomal recessive 26, modifier of} 605429 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-10056 mettl23 124512 METTL23 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 44 615942 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-279 mfap5 8076 MFAP5 Aortic aneurysm, familial thoracic 9 616166 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1510 mff 56947 MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-20 mfhas1 9258 MFHAS1 Malignant fibrous histiocytoma 605352 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-44 mfn2 9927 MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2B 617087 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-44 mfn2 9927 MFN2 Charcot-Marie-Tooth disease type 2A2 DOID:0110155 Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-44 mfn2 9927 MFN2 Charcot-Marie-Tooth disease type 6 DOID:0080068 Hereditary motor and sensory neuropathy VIA 601152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160728-150 mfrp 83552 MFRP isolated microphthalmia 5 DOID:0060837 Microphthalmia, isolated 5 611040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160728-150 mfrp 83552 MFRP microphthalmia DOID:10629 Nanophthalmos 2 609549 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-166 mfsd2aa 84879 MFSD2A primary autosomal recessive microcephaly 15 DOID:0070277 Microcephaly 15, primary, autosomal recessive 616486 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-89 mfsd2ab 84879 MFSD2A primary autosomal recessive microcephaly 15 DOID:0070277 Microcephaly 15, primary, autosomal recessive 616486 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060818-29 mfsd8 256471 MFSD8 Macular dystrophy with central cone involvement 616170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060818-29 mfsd8 256471 MFSD8 neuronal ceroid lipofuscinosis 7 DOID:0110722 Ceroid lipofuscinosis, neuronal, 7 610951 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-54 mgat2 4247 MGAT2 congenital disorder of glycosylation type IIa DOID:0070253 Congenital disorder of glycosylation, type IIa 212066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-68 mgme1 92667 MGME1 mitochondrial DNA depletion syndrome 11 DOID:0080129 Mitochondrial DNA depletion syndrome 11 615084 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060928-1 mgp 4256 MGP Keutel syndrome 245150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030404-2 mib1 57534 MIB1 Left ventricular noncompaction 7 615092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-178 micos13 125988 MICOS13 Combined oxidative phosphorylation deficiency 37 618329 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-22 micu1 10367 MICU1 Myopathy with extrapyramidal signs 615673 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-205 mid1 4281 MID1 Opitz-GBBB syndrome DOID:0050780 Opitz GBBB syndrome, type I 300000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090220-1 mid2 11043 MID2 ?Mental retardation, X-linked 101 300928 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080708-1 mif 4282 MIF juvenile rheumatoid arthritis DOID:676 {Rheumatoid arthritis, systemic juvenile, susceptibility to} 604302 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1194 minpp1a 9562 MINPP1 thyroid gland follicular carcinoma DOID:3962 {Thyroid carcinoma, follicular} 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-888 minpp1b 9562 MINPP1 thyroid gland follicular carcinoma DOID:3962 {Thyroid carcinoma, follicular} 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-41 mipa 4284 MIP cataract 15 multiple types DOID:0110251 Cataract 15, multiple types 615274 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-86 mipb 4284 MIP cataract 15 multiple types DOID:0110251 Cataract 15, multiple types 615274 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-662 mipep 4285 MIPEP Combined oxidative phosphorylation deficiency 31 617228 ECO:0000266 ZDB-PUB-170210-12 ZDB-MIRNAG-090929-168 mir184 406960 MIR184 EDICT syndrome 614303 ECO:0000266 ZDB-PUB-170210-12 ZDB-MIRNAG-070111-4 mir96 407053 MIR96 autosomal dominant nonsyndromic deafness 50 DOID:0110576 Deafness, autosomal dominant 50 613074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990910-11 mitfa 4286 MITF COMMAD syndrome 617306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990910-11 mitfa 4286 MITF {Melanoma, cutaneous malignant, susceptibility to, 8} 614456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990910-11 mitfa 4286 MITF ocular albinism with sensorineural deafness DOID:0090100 Waardenburg syndrome/ocular albinism, digenic 103470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990910-11 mitfa 4286 MITF Tietz syndrome DOID:0090002 Tietz albinism-deafness syndrome 103500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990910-11 mitfa 4286 MITF Waardenburg syndrome type 2A DOID:0110950 Waardenburg syndrome, type 2A 193510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-1 mitfb 4286 MITF COMMAD syndrome 617306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-1 mitfb 4286 MITF {Melanoma, cutaneous malignant, susceptibility to, 8} 614456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-1 mitfb 4286 MITF ocular albinism with sensorineural deafness DOID:0090100 Waardenburg syndrome/ocular albinism, digenic 103470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-1 mitfb 4286 MITF Tietz syndrome DOID:0090002 Tietz albinism-deafness syndrome 103500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-1 mitfb 4286 MITF Waardenburg syndrome type 2A DOID:0110950 Waardenburg syndrome, type 2A 193510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-757 mkks 8195 MKKS Bardet-Biedl syndrome 6 DOID:0110128 Bardet-Biedl syndrome 6 605231 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-757 mkks 8195 MKKS McKusick-Kaufman syndrome DOID:0111255 McKusick-Kaufman syndrome 236700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3813 mks1 54903 MKS1 Bardet-Biedl syndrome 13 DOID:0110135 Bardet-Biedl syndrome 13 615990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3813 mks1 54903 MKS1 Joubert syndrome 28 DOID:0110997 Joubert syndrome 28 617121 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3813 mks1 54903 MKS1 Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 249000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-145 mlc1 23209 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 Megalencephalic leukoencephalopathy with subcortical cysts 604004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-7 mlf1 4291 MLF1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1600 mlh1 4292 MLH1 Mismatch repair cancer syndrome 276300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1600 mlh1 4292 MLH1 hereditary nonpolyposis colorectal cancer type 2 DOID:0070274 Colorectal cancer, hereditary nonpolyposis, type 2 609310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1600 mlh1 4292 MLH1 Muir-Torre syndrome DOID:0050465 Muir-Torre syndrome 158320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-45 mlh3 27030 MLH3 colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-45 mlh3 27030 MLH3 endometrial cancer DOID:1380 {Endometrial cancer, susceptibility to} 608089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-45 mlh3 27030 MLH3 hereditary nonpolyposis colorectal cancer type 7 DOID:0070276 Colorectal cancer, hereditary nonpolyposis, type 7 614385 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-176 mllt10 8028 MLLT10 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-724 mlpha 79083 MLPH Griscelli syndrome type 3 DOID:0060834 Griscelli syndrome, type 3 609227 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070803-2 mlphb 79083 MLPH Griscelli syndrome type 3 DOID:0060834 Griscelli syndrome, type 3 609227 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-120 mlycd 23417 MLYCD Malonyl-CoA decarboxylase deficiency 248360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-15 mmaa 166785 MMAA methylmalonic acidemia cblA type DOID:0060742 Methylmalonic aciduria, vitamin B12-responsive 251100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-232 mmab 326625 MMAB methylmalonic acidemia cblB type DOID:0060743 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3167 mmachc 25974 MMACHC methylmalonic aciduria and homocystinuria type cblC DOID:0050715 Methylmalonic aciduria and homocystinuria, cblC type 277400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-50 mmadhc 27249 MMADHC methylmalonic aciduria and homocystinuria type cblD DOID:0050716 Homocystinuria, cblD type, variant 1 277410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-50 mmadhc 27249 MMADHC methylmalonic aciduria and homocystinuria type cblD DOID:0050716 Methylmalonic aciduria and homocystinuria, cblD type 277410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-50 mmadhc 27249 MMADHC methylmalonic aciduria and homocystinuria type cblD DOID:0050716 Methylmalonic aciduria, cblD type, variant 2 277410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031202-2 mmp13a 4322 MMP13 Metaphyseal dysplasia, Spahr type 250400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031202-2 mmp13a 4322 MMP13 spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 Metaphyseal anadysplasia 1 602111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031202-2 mmp13a 4322 MMP13 spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 Spondyloepimetaphyseal dysplasia, Missouri type 602111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6152 mmp13b 4322 MMP13 Metaphyseal dysplasia, Spahr type 250400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6152 mmp13b 4322 MMP13 spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 Metaphyseal anadysplasia 1 602111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6152 mmp13b 4322 MMP13 spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 Spondyloepimetaphyseal dysplasia, Missouri type 602111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030901-1 mmp14a 4323 MMP14 ?Winchester syndrome 277950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030901-2 mmp14b 4323 MMP14 ?Winchester syndrome 277950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100308-3 mmp19 4327 MMP19 Cavitary optic disc anomalies 611543 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9123 mmp2 4313 MMP2 Multicentric osteolysis, nodulosis, and arthropathy 259600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100603-2 mmp20a 9313 MMP20 amelogenesis imperfecta hypomaturation type 2A2 DOID:0110060 Amelogenesis imperfecta, type IIA2 612529 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100603-3 mmp20b 9313 MMP20 amelogenesis imperfecta hypomaturation type 2A2 DOID:0110060 Amelogenesis imperfecta, type IIA2 612529 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100226-2 mmp21 118856 MMP21 Heterotaxy, visceral, 7, autosomal 616749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2132 mmp9 4318 MMP9 Metaphyseal anadysplasia 2 613073 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4968 mn1a 4330 MN1 Meningioma 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-23 mn1b 4330 MN1 Meningioma 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040409-1 mnx1 3110 MNX1 Currarino syndrome 176450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-94 mocos 55034 MOCOS xanthinuria DOID:0060236 Xanthinuria, type II 603592 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130215-1 mocs1 4337 MOCS1 molybdenum cofactor deficiency type A DOID:0111164 Molybdenum cofactor deficiency A 252150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-53 mocs2 4338 MOCS2 molybdenum cofactor deficiency type B DOID:0111163 Molybdenum cofactor deficiency B 252160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-412 mogs 7841 MOGS congenital disorder of glycosylation type IIb DOID:0070254 Congenital disorder of glycosylation, type IIb 606056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-40 morc2 22880 MORC2 Charcot-Marie-Tooth disease axonal type 2Z DOID:0110181 Charcot-Marie-Tooth disease, axonal, type 2Z 616688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-94 mpc1 51660 MPC1 mitochondrial pyruvate carrier deficiency DOID:0080363 Mitochondrial pyruvate carrier deficiency 614741 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-9 mpdu1a 9526 MPDU1 congenital disorder of glycosylation If DOID:0080558 Congenital disorder of glycosylation, type If 609180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-135 mpdu1b 9526 MPDU1 congenital disorder of glycosylation If DOID:0080558 Congenital disorder of glycosylation, type If 609180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050904-6 mpi 4351 MPI congenital disorder of glycosylation Ib DOID:0080554 Congenital disorder of glycosylation, type Ib 602579 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-1 mpl 4352 MPL congenital amegakaryocytic thrombocytopenia DOID:0090118 Thrombocytopenia, congenital amegakaryocytic 604498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-1 mpl 4352 MPL essential thrombocythemia DOID:2224 Thrombocythemia 2 601977 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-1 mpl 4352 MPL myelofibrosis DOID:4971 Myelofibrosis with myeloid metaplasia, somatic 254450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-182 mplkip 136647 MPLKIP nonphotosensitive trichothiodystrophy DOID:0050528 Trichothiodystrophy 4, nonphotosensitive 234050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1168 mpv17 4358 MPV17 Charcot-Marie-Tooth disease, axonal, type 2EE 618400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1168 mpv17 4358 MPV17 mitochondrial DNA depletion syndrome 6 DOID:0080125 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Hypomyelinating neuropathy, congenital, 2 618184 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Roussy-Levy syndrome 180800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Charcot-Marie-Tooth disease dominant intermediate D DOID:0110200 Charcot-Marie-Tooth disease, dominant intermediate D 607791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Charcot-Marie-Tooth disease type 1B DOID:0110152 Charcot-Marie-Tooth disease, type 1B 118200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Charcot-Marie-Tooth disease type 2I DOID:0110158 Charcot-Marie-Tooth disease, type 2I 607677 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Charcot-Marie-Tooth disease type 2J DOID:0110157 Charcot-Marie-Tooth disease, type 2J 607736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010724-4 mpz 4359 MPZ Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8774 mpzl2b 10205 MPZL2 Deafness, autosomal recessive 111 618145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-387 mrap 56246 MRAP Glucocorticoid deficiency 2 607398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100729-3 mrap2a 112609 MRAP2 {?Obesity, susceptibility to, BMIQ18} 615457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100729-5 mrap2b 112609 MRAP2 {?Obesity, susceptibility to, BMIQ18} 615457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-495 mras 22808 MRAS Noonan syndrome 11 618499 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2638 mre11a 4361 MRE11 Ataxia-telangiectasia-like disorder 1 604391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5205 mrm2 29960 MRM2 ?Mitochondrial DAN depletion syndrome 17 618567 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8227 mrpl3 11222 MRPL3 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 9 614582 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-59 mrpl44 65080 MRPL44 combined oxidative phosphorylation deficiency DOID:0060286 ?Combined oxidative phosphorylation deficiency 16 615395 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-75 mrps14 63931 MRPS14 ?Combined oxidative phosphorylation deficiency 38 618378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-123 mrps16 51021 MRPS16 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 2 610498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-992 mrps2 51116 MRPS2 Combined oxidative phosphorylation deficiency 36 617950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-31 mrps22 56945 MRPS22 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 5 611719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-31 mrps22 56945 MRPS22 ovarian dysgenesis 7 DOID:0080499 Ovarian dysgenesis 7 618117 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-71 mrps34 65993 MRPS34 Combined oxidative phosphorylation deficiency 32 617664 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-112 mrps7 51081 MRPS7 ?Combined oxidative phosphorylation deficiency 34 617872 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121205-3 mrtfaa 57591 MRTFA Megakaryoblastic leukemia, acute ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-681 mrtfab 57591 MRTFA Megakaryoblastic leukemia, acute ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2932 msh2 4436 MSH2 Mismatch repair cancer syndrome 276300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2932 msh2 4436 MSH2 Lynch syndrome 1 DOID:0070271 Colorectal cancer, hereditary nonpolyposis, type 1 120435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2932 msh2 4436 MSH2 Muir-Torre syndrome DOID:0050465 Muir-Torre syndrome 158320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-307 msh3 4437 MSH3 endometrial cancer DOID:1380 Endometrial carcinoma, somatic 608089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-307 msh3 4437 MSH3 familial adenomatous polyposis 4 DOID:0080412 Familial adenomatous polyposis 4 617100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-632 msh5 4439 MSH5 ?Premature ovarian failure 13 617442 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-3 msh6 2956 MSH6 Mismatch repair cancer syndrome 276300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-3 msh6 2956 MSH6 endometrial cancer DOID:1380 {Endometrial cancer, familial} 608089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-3 msh6 2956 MSH6 hereditary nonpolyposis colorectal cancer type 5 DOID:0070272 Colorectal cancer, hereditary nonpolyposis, type 5 614350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2670 msmo1 6307 MSMO1 Microcephaly, congenital cataract, and psoriasiform dermatitis 616834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021211-2 msna 4478 MSN Immunodeficiency 50 300988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-7 msnb 4478 MSN Immunodeficiency 50 300988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-74 msrb3 253827 MSRB3 autosomal recessive nonsyndromic deafness 74 DOID:0110523 Deafness, autosomal recessive 74 613718 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-2 mst1ra 4486 MST1R {Nasopharyngeal carcinoma, susceptibility to, 3} 617075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-3 mst1rb 4486 MST1R {Nasopharyngeal carcinoma, susceptibility to, 3} 617075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-735 mstna 2660 MSTN myostatin-related muscle hypertrophy DOID:0111072 Muscle hypertrophy 614160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-165 mstnb 2660 MSTN myostatin-related muscle hypertrophy DOID:0111072 Muscle hypertrophy 614160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6238 msto1 55154 MSTO1 Myopathy, mitochondrial, and ataxia 617675 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-312 msx1a 4487 MSX1 orofacial cleft 5 DOID:0080399 Orofacial cleft 5 608874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-312 msx1a 4487 MSX1 tooth agenesis DOID:0050591 Tooth agenesis, selective, 1, with or without orofacial cleft 106600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-312 msx1a 4487 MSX1 tooth and nail syndrome DOID:6678 Ectodermal dysplasia 3, Witkop type 189500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-322 msx2a 4488 MSX2 Parietal foramina with cleidocranial dysplasia 168550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-322 msx2a 4488 MSX2 craniosynostosis DOID:2340 Craniosynostosis 2 604757 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-322 msx2a 4488 MSX2 parietal foramina DOID:0060285 Parietal foramina 1 168500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-492 msx2b 4488 MSX2 Parietal foramina with cleidocranial dysplasia 168550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-492 msx2b 4488 MSX2 craniosynostosis DOID:2340 Craniosynostosis 2 604757 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-492 msx2b 4488 MSX2 parietal foramina DOID:0060285 Parietal foramina 1 168500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1505 mtap 4507 MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-120 mtfmt 123263 MTFMT Mitochondrial complex I deficiency, nuclear type 27 618248 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-120 mtfmt 123263 MTFMT combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 15 614947 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-127 mthfd1a 4522 MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-127 mthfd1a 4522 MTHFD1 neural tube defect DOID:0080074 {Neural tube defects, folate-sensitive, susceptibility to} 601634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-4 mthfd1b 4522 MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-4 mthfd1b 4522 MTHFD1 neural tube defect DOID:0080074 {Neural tube defects, folate-sensitive, susceptibility to} 601634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-215 mthfr 4524 MTHFR {Vascular disease, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-215 mthfr 4524 MTHFR homocystinuria DOID:9263 Homocystinuria due to MTHFR deficiency 236250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-215 mthfr 4524 MTHFR neural tube defect DOID:0080074 {Neural tube defects, susceptibility to} 601634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-215 mthfr 4524 MTHFR schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-215 mthfr 4524 MTHFR thrombophilia DOID:2452 {Thromboembolism, susceptibility to} 188050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130103-5 mthfs 10588 MTHFS Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 618367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-128 mtm1 4534 MTM1 centronuclear myopathy X-linked DOID:0111225 Myotubular myopathy, X-linked 310400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2649 mtmr14 64419 MTMR14 centronuclear myopathy 1 DOID:0111223 {Centronuclear myopathy, autosomal, modifier of} 160150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-14 mtmr2 8898 MTMR2 Charcot-Marie-Tooth disease type 4B1 DOID:0110191 Charcot-Marie-Tooth disease, type 4B1 601382 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-157 mtnr1ba 4544 MTNR1B type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, type 2, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-156 mtnr1bb 4544 MTNR1B type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, type 2, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-253 mto1 25821 MTO1 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 10 614702 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2974 mtor 2475 MTOR Focal cortical dysplasia, type II, somatic 607341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2974 mtor 2475 MTOR Smith-Kingsmore syndrome 616638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101208-3 mtpap 55149 MTPAP spastic ataxia 4 DOID:0050943 ?Spastic ataxia 4, autosomal recessive 613672 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031001-5 mtr 4548 MTR Homocystinuria-megaloblastic anemia, cblG complementation type 250940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031001-5 mtr 4548 MTR neural tube defect DOID:0080074 {Neural tube defects, folate-sensitive, susceptibility to} 601634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101115-3 mtrr 4552 MTRR Homocystinuria-megaloblastic anemia, cbl E type 236270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101115-3 mtrr 4552 MTRR neural tube defect DOID:0080074 {Neural tube defects, folate-sensitive, susceptibility to} 601634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040419-2 mttp 4547 MTTP abdominal obesity-metabolic syndrome 1 DOID:14221 {Metabolic syndrome, protection against} 605552 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040419-2 mttp 4547 MTTP abetalipoproteinemia DOID:1386 Abetalipoproteinemia 200100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6458 musk 4593 MUSK Fetal akinesia deformation sequence 1 208150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6458 musk 4593 MUSK congenital myasthenic syndrome 9 DOID:0110670 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010430-3 mut 4594 MMUT methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 Methylmalonic aciduria, mut(0) type 251000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-193 mutyh 4595 MUTYH familial adenomatous polyposis 2 DOID:0080410 Adenomas, multiple colorectal 608456 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-193 mutyh 4595 MUTYH pilomatrixoma DOID:5374 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 132600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-193 mutyh 4595 MUTYH stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-127 mvda 4597 MVD Porokeratosis 7, multiple types 614714 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-404 mvdb 4597 MVD Porokeratosis 7, multiple types 614714 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-37 mvk 4598 MVK Hyper-IgD syndrome 260920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-37 mvk 4598 MVK Porokeratosis 3, multiple types 175900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-37 mvk 4598 MVK mevalonic aciduria DOID:0050452 Mevalonic aciduria 610377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-151 mxi1 4601 MXI1 Neurofibrosarcoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-151 mxi1 4601 MXI1 prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-14 myb 4602 MYB {T-cell acute lymphoblastic leukemia} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-196 mybpc1 4604 MYBPC1 Lethal congenital contracture syndrome 4 614915 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-196 mybpc1 4604 MYBPC1 Myopathy, congenital, with tremor 618524 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-196 mybpc1 4604 MYBPC1 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 1B 614335 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2362 mybpc3 4607 MYBPC3 Cardiomyopathy, dilated, 1MM 615396 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2362 mybpc3 4607 MYBPC3 Left ventricular noncompaction 10 615396 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2362 mybpc3 4607 MYBPC3 hypertrophic cardiomyopathy 4 DOID:0110310 Cardiomyopathy, hypertrophic, 4 115197 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-162 myca 4609 MYC Burkitt lymphoma DOID:8584 Burkitt lymphoma, somatic 113970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-780 mycb 4609 MYC Burkitt lymphoma DOID:8584 Burkitt lymphoma, somatic 113970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020711-1 mycn 4613 MYCN Feingold syndrome DOID:0060464 Feingold syndrome 1 164280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-3 myd88 4615 MYD88 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-3 myd88 4615 MYD88 lymphoplasmacytic lymphoma DOID:0050747 Macroglobulinemia, Waldenstrom, somatic 153600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-6 myf5 4617 MYF5 Ophthalmoplegia, external, with rib and vertebral anomalies 618155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050531-1 myh11a 4629 MYH11 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 4 132900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101124-2 myh11b 4629 MYH11 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 4 132900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-1 myh14 79784 MYH14 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-1 myh14 79784 MYH14 autosomal dominant nonsyndromic deafness 4A DOID:0110573 Deafness, autosomal dominant 4A 600652 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-1 myh6 4624 MYH6 {Sick sinus syndrome 3} 614090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-1 myh6 4624 MYH6 atrial heart septal defect 3 DOID:0110108 Atrial septal defect 3 614089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-1 myh6 4624 MYH6 dilated cardiomyopathy 1EE DOID:0110453 Cardiomyopathy, dilated, 1EE 613252 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-1 myh6 4624 MYH6 hypertrophic cardiomyopathy 14 DOID:0110320 Cardiomyopathy, hypertrophic, 14 613251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 autosomal dominant hyaline body myopathy DOID:0111269 Myopathy, myosin storage, autosomal dominant 608358 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 autosomal recessive hyaline body myopathy DOID:0111268 Myopathy, myosin storage, autosomal recessive 255160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 dilated cardiomyopathy 1S DOID:0110454 Cardiomyopathy, dilated, 1S 613426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 dilated cardiomyopathy 1S DOID:0110454 Left ventricular noncompaction 5 613426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 distal myopathy 1 DOID:0070197 Laing distal myopathy 160500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 hypertrophic cardiomyopathy 1 DOID:0110307 Cardiomyopathy, hypertrophic, 1 192600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-5 myh7 4625 MYH7 scapuloperoneal myopathy DOID:0060253 Scapuloperoneal syndrome, myopathic type 181430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5870 myh9a 4627 MYH9 autosomal dominant nonsyndromic deafness 17 DOID:0110548 Deafness, autosomal dominant 17 603622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5870 myh9a 4627 MYH9 MYH-9 related disease DOID:0060651 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 155100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-998 myh9b 4627 MYH9 autosomal dominant nonsyndromic deafness 17 DOID:0110548 Deafness, autosomal dominant 17 603622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-998 myh9b 4627 MYH9 MYH-9 related disease DOID:0060651 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 155100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8109 myl1 4632 MYL1 Myopathy, congenital, with fast-twitch (type II) fiber atrophy 618414 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120917-2 myl2a 4633 MYL2 hypertrophic cardiomyopathy 10 DOID:0110316 Cardiomyopathy, hypertrophic, 10 608758 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060331-137 myl2b 4633 MYL2 hypertrophic cardiomyopathy 10 DOID:0110316 Cardiomyopathy, hypertrophic, 10 608758 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-112 myl4 4635 MYL4 ?Atrial fibrillation, familial, 18 617280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080616-2 mylk2 85366 MYLK2 hypertrophic cardiomyopathy 1 DOID:0110307 Cardiomyopathy, hypertrophic, 1, digenic 192600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8207 mylka 4638 MYLK thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 7 613780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-150 mylkb 4638 MYLK thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 7 613780 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-66 mymk 389827 MYMK Carey-Fineman-Ziter syndrome DOID:0080194 Carey-Fineman-Ziter syndrome 254940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080425-2 myo15aa 51168 MYO15A autosomal recessive nonsyndromic deafness 3 DOID:0110488 Deafness, autosomal recessive 3 600316 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-149 myo15ab 51168 MYO15A autosomal recessive nonsyndromic deafness 3 DOID:0110488 Deafness, autosomal recessive 3 600316 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111111-8 myo18b 84700 MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 616549 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5127 myo1ea 4643 MYO1E focal segmental glomerulosclerosis 6 DOID:0111131 Glomerulosclerosis, focal segmental, 6 614131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1347 myo1eb 4643 MYO1E focal segmental glomerulosclerosis 6 DOID:0111131 Glomerulosclerosis, focal segmental, 6 614131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-4 myo3a 53904 MYO3A autosomal recessive nonsyndromic deafness 30 DOID:0110489 Deafness, autosomal recessive 30 607101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041027-2 myo5aa 4644 MYO5A Griscelli syndrome type 1 DOID:0060832 Griscelli syndrome, type 1 214450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-72 myo5ab 4644 MYO5A Griscelli syndrome type 1 DOID:0060832 Griscelli syndrome, type 1 214450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031219-7 myo5b 4645 MYO5B microvillus inclusion disease DOID:0060775 Microvillus inclusion disease 251850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040819-2 myo6a 4646 MYO6 autosomal dominant nonsyndromic deafness 22 DOID:0110552 Deafness, autosomal dominant 22 606346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040819-2 myo6a 4646 MYO6 autosomal dominant nonsyndromic deafness 22 DOID:0110552 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy 606346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040819-2 myo6a 4646 MYO6 autosomal recessive nonsyndromic deafness 37 DOID:0110495 Deafness, autosomal recessive 37 607821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030318-3 myo6b 4646 MYO6 autosomal dominant nonsyndromic deafness 22 DOID:0110552 Deafness, autosomal dominant 22 606346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030318-3 myo6b 4646 MYO6 autosomal dominant nonsyndromic deafness 22 DOID:0110552 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy 606346 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030318-3 myo6b 4646 MYO6 autosomal recessive nonsyndromic deafness 37 DOID:0110495 Deafness, autosomal recessive 37 607821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020709-1 myo7aa 4647 MYO7A autosomal dominant nonsyndromic deafness 11 DOID:0110543 Deafness, autosomal dominant 11 601317 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020709-1 myo7aa 4647 MYO7A autosomal recessive nonsyndromic deafness 2 DOID:0110477 Deafness, autosomal recessive 2 600060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020709-1 myo7aa 4647 MYO7A Usher syndrome type 1 DOID:0110826 Usher syndrome, type 1B 276900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091110-4 myo7ab 4647 MYO7A autosomal dominant nonsyndromic deafness 11 DOID:0110543 Deafness, autosomal dominant 11 601317 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091110-4 myo7ab 4647 MYO7A autosomal recessive nonsyndromic deafness 2 DOID:0110477 Deafness, autosomal recessive 2 600060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091110-4 myo7ab 4647 MYO7A Usher syndrome type 1 DOID:0110826 Usher syndrome, type 1B 276900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080424-5 myo9aa 4649 MYO9A Myasthenic syndrome, congenital, 24, presynaptic 618198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080424-6 myo9ab 4649 MYO9A Myasthenic syndrome, congenital, 24, presynaptic 618198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-938 myo9b 4650 MYO9B {Celiac disease, susceptibility to, 4} 609753 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050425-2 myoc 4653 MYOC juvenile glaucoma DOID:1068 Glaucoma 1A, primary open angle 137750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050425-2 myoc 4653 MYOC open-angle glaucoma DOID:1067 Glaucoma 1A, primary open angle 137750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-62 myorg 57462 MYORG Basal ganglia calcification, idiopathic, 7, autosomal recessive 618317 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-129 myot 9499 MYOT myofibrillar myopathy 3 DOID:0080094 Myopathy, myofibrillar, 3 609200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-129 myot 9499 MYOT spheroid body myopathy DOID:0080091 Myopathy, spheroid body 182920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1880 myoz2a 51778 MYOZ2 hypertrophic cardiomyopathy 16 DOID:0110322 Cardiomyopathy, hypertrophic, 16 613838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1853 myoz2b 51778 MYOZ2 hypertrophic cardiomyopathy 16 DOID:0110322 Cardiomyopathy, hypertrophic, 16 613838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100721-5 mypn 84665 MYPN dilated cardiomyopathy 1KK DOID:0110445 Cardiomyopathy, dilated, 1KK 615248 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100721-5 mypn 84665 MYPN dilated cardiomyopathy 1KK DOID:0110445 Cardiomyopathy, familial restrictive, 4 615248 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100721-5 mypn 84665 MYPN dilated cardiomyopathy 1KK DOID:0110445 Cardiomyopathy, hypertrophic, 22 615248 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100721-5 mypn 84665 MYPN nemaline myopathy 11 DOID:0110933 Nemaline myopathy 11, autosomal recessive 617336 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-57 myrf 745 MYRF Cardiac-urogenital syndrome 618280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-57 myrf 745 MYRF Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 618113 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-28 mysm1 114803 MYSM1 Bone marrow failure syndrome 4 618116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-172 myt1la 23040 MYT1L autosomal dominant non-syndromic intellectual disability 39 DOID:0070069 Mental retardation, autosomal dominant 39 616521 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100806-2 myt1lb 23040 MYT1L autosomal dominant non-syndromic intellectual disability 39 DOID:0070069 Mental retardation, autosomal dominant 39 616521 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2648 naa10 8260 NAA10 ?Microphthalmia, syndromic 1 309800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2648 naa10 8260 NAA10 Ogden syndrome DOID:0050781 Ogden syndrome 300855 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2392 naa15a 80155 NAA15 autosomal dominant mental retardation 50 DOID:0080233 Mental retardation, autosomal dominant 50 617787 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6031 naa15b 80155 NAA15 autosomal dominant mental retardation 50 DOID:0080233 Mental retardation, autosomal dominant 50 617787 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010319-3 nacc1a 112939 NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 617393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121212-1 nacc1b 112939 NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 617393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-202 nadk2 133686 NADK2 ?2,4-dienoyl-CoA reductase deficiency 616034 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-256 naga 4668 NAGA Kanzaki disease 609242 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-256 naga 4668 NAGA Schindler disease, type I 609241 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-256 naga 4668 NAGA Schindler disease, type III 609241 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100726-2 naglu 4669 NAGLU Charcot-Marie-Tooth disease axonal type 2V DOID:0110178 ?Charcot-Marie-Tooth disease, axonal, type 2V 616491 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100726-2 naglu 4669 NAGLU mucopolysaccharidosis III DOID:12801 Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121219-2 nags 162417 NAGS N-acetylglutamate synthase deficiency 237310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-12 nalcn 259232 NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-12 nalcn 259232 NALCN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 615419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1623 nanos1 340719 NANOS1 spermatogenic failure 12 DOID:0070171 Spermatogenic failure 12 615413 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1500 nansa 54187 NANS spondyloepimetaphyseal dysplasia, Genevieve-type DOID:0080576 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-125 nansb 54187 NANS spondyloepimetaphyseal dysplasia, Genevieve-type DOID:0080576 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-596 nars2 79731 NARS2 ?Deafness, autosomal recessive 94 618434 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-596 nars2 79731 NARS2 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 24 616239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030729-4 nat8l 339983 NAT8L ?N-acetylaspartate deficiency 614063 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-1 naxd 55739 NAXD Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-362 naxe 128240 NAXE Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-367 nbas 51594 NBAS Infantile liver failure syndrome 2 616483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-367 nbas 51594 NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly 614800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-283 nbeal2 23218 NBEAL2 gray platelet syndrome DOID:0111044 Gray platelet syndrome 139090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-35 nbn 4683 NBN acute lymphocytic leukemia DOID:9952 Leukemia, acute lymphoblastic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-35 nbn 4683 NBN aplastic anemia DOID:12449 Aplastic anemia 609135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-35 nbn 4683 NBN Nijmegen breakage syndrome DOID:7400 Nijmegen breakage syndrome 251260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-59 ncapd2 9918 NCAPD2 ?Microcephaly 21, primary, autosomal recessive 617983 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-737 ncapd3 23310 NCAPD3 Microcephaly 22, primary, autosomal recessive 617984 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-100 ncapg2 54892 NCAPG2 Khan-Khan-Katsanis syndrome 618460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-652 ncaph 23397 NCAPH ?Microcephaly 23, primary, autosomal recessive 617985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-6 ncf1 653361 NCF1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I DOID:0070192 Chronic granulomatous disease due to deficiency of NCF-1 233700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-29 ncf2 4688 NCF2 autosomal recessive chronic granulomatous disease cytochrome b-positive type II DOID:0070191 Chronic granulomatous disease due to deficiency of NCF-2 233710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041124-1 ncf4 4689 NCF4 autosomal recessive chronic granulomatous disease cytochrome b-positive type III DOID:0070194 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050131-1 ncstn 23385 NCSTN hidradenitis suppurativa DOID:2280 Acne inversa, familial, 1 142690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-61 nde1 54820 NDE1 ?Microhydranencephaly 605013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-61 nde1 54820 NDE1 lissencephaly DOID:0050453 Lissencephaly 4 (with microcephaly) 614019 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060216-2 ndp 4693 NDP exudative vitreoretinopathy DOID:0050535 Exudative vitreoretinopathy 2, X-linked 305390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060216-2 ndp 4693 NDP Norrie disease DOID:0060844 Norrie disease 310600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-256 ndr1 4838 NODAL situs inversus DOID:758 Heterotaxy, visceral, 5 270100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-181 ndr2 4838 NODAL situs inversus DOID:758 Heterotaxy, visceral, 5 270100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-34 ndrg1a 10397 NDRG1 Charcot-Marie-Tooth disease type 4D DOID:0110186 Charcot-Marie-Tooth disease, type 4D 601455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1648 ndrg1b 10397 NDRG1 Charcot-Marie-Tooth disease type 4D DOID:0110186 Charcot-Marie-Tooth disease, type 4D 601455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111012-2 ndst1a 3340 NDST1 Mental retardation, autosomal recessive 46 616116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8022 ndst1b 3340 NDST1 Mental retardation, autosomal recessive 46 616116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-168 ndufa1 4694 NDUFA1 Mitochondrial complex I deficiency, nuclear type 12 301020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-670 ndufa10 4705 NDUFA10 Mitochondrial complex I deficiency, nuclear type 22 618243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1631 ndufa11 126328 NDUFA11 Mitochondrial complex I deficiency, nuclear type 14 618236 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050828-1 ndufa12 55967 NDUFA12 ?Mitochondrial complex I deficiency, nuclear type 23 618244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1672 ndufa13 51079 NDUFA13 ?Mitochondrial complex I deficiency, nuclear type 28 618249 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1672 ndufa13 51079 NDUFA13 thyroid gland Hurthle cell carcinoma DOID:8161 {Thyroid carcinoma, Hurthle cell} 607464 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-377 ndufa2 4695 NDUFA2 ?Mitochondrial complex I deficiency, nuclear type 13 618235 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1124 ndufa6 4700 NDUFA6 Mitochondrial complex I deficiency, nuclear type 33 618253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-20 ndufa9a 4704 NDUFA9 Mitochondrial complex I deficiency, nuclear type 26 618247 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-31 ndufa9b 4704 NDUFA9 Mitochondrial complex I deficiency, nuclear type 26 618247 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-9 ndufaf1 51103 NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11 618234 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-28 ndufaf2 91942 NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10 618233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-282 ndufaf3 25915 NDUFAF3 Mitochondrial complex I deficiency, nuclear type 18 618240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-114 ndufaf4 29078 NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15 618237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-110 ndufaf5 79133 NDUFAF5 Mitochondrial complex I deficiency, nuclear type 16 618238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100112-1 ndufaf6 137682 NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17 618239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-25 ndufb11 54539 NDUFB11 Linear skin defects with multiple congenital anomalies 3 300952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-25 ndufb11 54539 NDUFB11 ?Mitochondrial complex I deficiency, nuclear type 30 301021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-407 ndufb3 4709 NDUFB3 Mitochondrial complex I deficiency, nuclear type 25 618246 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1858 ndufb8 4714 NDUFB8 Mitochondrial complex I deficiency, nuclear type 32 618252 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8364 ndufb9 4715 NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24 618245 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-478 ndufs1 4719 NDUFS1 Mitochondrial complex I deficiency, nuclear type 5 618226 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-273 ndufs2 4720 NDUFS2 Mitochondrial complex I deficiency, nuclear type 6 618228 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-274 ndufs3 4722 NDUFS3 Mitochondrial complex I deficiency, nuclear type 8 618230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-421 ndufs4 4724 NDUFS4 mitochondrial complex I deficiency DOID:0060536 Mitochondrial complex I deficiency, nuclear type 1 252010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-86 ndufs6 4726 NDUFS6 Mitochondrial complex I deficiency, nuclear type 9 618232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-261 ndufs7 374291 NDUFS7 Mitochondrial complex I deficiency, nuclear type 3 618224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2153 ndufs8a 4728 NDUFS8 Mitochondrial complex I deficiency, nuclear type 2 618222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-131 ndufs8b 4728 NDUFS8 Mitochondrial complex I deficiency, nuclear type 2 618222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-73 ndufv1 4723 NDUFV1 Mitochondrial complex I deficiency, nuclear type 4 618225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1713 ndufv2 4729 NDUFV2 Mitochondrial complex I deficiency, nuclear type 7 618229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-216 neb 4703 NEB nemaline myopathy 2 DOID:0110928 Nemaline myopathy 2, autosomal recessive 256030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1682 necap1 25977 NECAP1 early infantile epileptic encephalopathy 21 DOID:0080443 ?Epileptic encephalopathy, early infantile, 21 615833 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090224-1 nectin1a 5818 NECTIN1 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 Cleft lip/palate-ectodermal dysplasia syndrome 225060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090224-1 nectin1a 5818 NECTIN1 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 Orofacial cleft 7 225060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090224-2 nectin1b 5818 NECTIN1 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 Cleft lip/palate-ectodermal dysplasia syndrome 225060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090224-2 nectin1b 5818 NECTIN1 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 Orofacial cleft 7 225060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-114 nectin4b 81607 NECTIN4 Ectodermal dysplasia-syndactyly syndrome 1 613573 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051118-2 nedd4l 23327 NEDD4L Periventricular nodular heterotopia 7 617201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-1 nefla 4747 NEFL Charcot-Marie-Tooth disease dominant intermediate G DOID:0080294 Charcot-Marie-Tooth disease, dominant intermediate G 617882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-1 nefla 4747 NEFL Charcot-Marie-Tooth disease type 1F DOID:0110149 Charcot-Marie-Tooth disease, type 1F 607734 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-1 nefla 4747 NEFL Charcot-Marie-Tooth disease type 2E DOID:0110165 Charcot-Marie-Tooth disease, type 2E 607684 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-44 neflb 4747 NEFL Charcot-Marie-Tooth disease dominant intermediate G DOID:0080294 Charcot-Marie-Tooth disease, dominant intermediate G 617882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-44 neflb 4747 NEFL Charcot-Marie-Tooth disease type 1F DOID:0110149 Charcot-Marie-Tooth disease, type 1F 607734 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-44 neflb 4747 NEFL Charcot-Marie-Tooth disease type 2E DOID:0110165 Charcot-Marie-Tooth disease, type 2E 607684 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040730-1 nek1 4750 NEK1 {Amyotrophic lateral sclerosis, susceptibility to, 24} 617892 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040730-1 nek1 4750 NEK1 short-rib thoracic dysplasia 6 with or without polydactyly DOID:0110092 Short-rib thoracic dysplasia 6 with or without polydactyly 263520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-752 nek2 4751 NEK2 retinitis pigmentosa 67 DOID:0110359 ?Retinitis pigmentosa 67 615565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020509-1 nek8 284086 NEK8 nephronophthisis 9 DOID:0111120 ?Nephronophthisis 9 613824 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020509-1 nek8 284086 NEK8 renal-hepatic-pancreatic dysplasia DOID:0060259 Renal-hepatic-pancreatic dysplasia 2 615415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160718-1 nek9 91754 NEK9 ?Arthrogryposis, Perthes disease, and upward gaze palsy 614262 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160718-1 nek9 91754 NEK9 Lethal congenital contracture syndrome 10 617022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160718-1 nek9 91754 NEK9 Nevus comedonicus, somatic 617025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-592 neu1 4758 NEU1 glycoproteinosis DOID:3343 Sialidosis, type I 256550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-592 neu1 4758 NEU1 glycoproteinosis DOID:3343 Sialidosis, type II 256550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-172 neurod1 4760 NEUROD1 maturity-onset diabetes of the young type 6 DOID:0111104 Maturity-onset diabetes of the young 6 606394 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-172 neurod1 4760 NEUROD1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010608-3 neurod2 4761 NEUROD2 Epileptic encephalopathy, early infantile, 72 618374 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010608-4 neurog3 50674 NEUROG3 congenital malabsorptive diarrhea 4 DOID:0060779 Diarrhea 4, malabsorptive, congenital 610370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-102 nexmifa 340533 NEXMIF non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 98 300912 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-18 nexmifb 340533 NEXMIF non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 98 300912 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-92 nexn 91624 NEXN dilated cardiomyopathy 1CC DOID:0110424 Cardiomyopathy, dilated, 1CC 613122 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-92 nexn 91624 NEXN hypertrophic cardiomyopathy 20 DOID:0110326 Cardiomyopathy, hypertrophic, 20 613876 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 Neurofibromatosis-Noonan syndrome 601321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 Watson syndrome 193520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 juvenile myelomonocytic leukemia DOID:0050458 Leukemia, juvenile myelomonocytic 607785 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 neurofibromatosis DOID:8712 Neurofibromatosis, familial spinal 162210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 neurofibromatosis 1 DOID:0111253 Neurofibromatosis, familial spinal 162210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4907 nf1a 4763 NF1 neurofibromatosis 1 DOID:0111253 Neurofibromatosis, type 1 162200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 Neurofibromatosis-Noonan syndrome 601321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 Watson syndrome 193520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 juvenile myelomonocytic leukemia DOID:0050458 Leukemia, juvenile myelomonocytic 607785 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 neurofibromatosis DOID:8712 Neurofibromatosis, familial spinal 162210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 neurofibromatosis 1 DOID:0111253 Neurofibromatosis, familial spinal 162210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091111-4 nf1b 4763 NF1 neurofibromatosis 1 DOID:0111253 Neurofibromatosis, type 1 162200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-7 nf2a 4771 NF2 Meningioma, NF2-related, somatic 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-7 nf2a 4771 NF2 neurilemmomatosis DOID:3204 Schwannomatosis, somatic 162091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-7 nf2a 4771 NF2 neurofibromatosis 2 DOID:0111252 Neurofibromatosis, type 2 101000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040622-3 nf2b 4771 NF2 Meningioma, NF2-related, somatic 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040622-3 nf2b 4771 NF2 neurilemmomatosis DOID:3204 Schwannomatosis, somatic 162091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040622-3 nf2b 4771 NF2 neurofibromatosis 2 DOID:0111252 Neurofibromatosis, type 2 101000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080229-6 nfasca 23114 NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100519-2 nfascb 23114 NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-2 nfe2l2a 4780 NFE2L2 Immunodeficiency, developmental delay, and hypohomocysteinemia 617744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120320-3 nfe2l2b 4780 NFE2L2 Immunodeficiency, developmental delay, and hypohomocysteinemia 617744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-501 nfia 4774 NFIA chromosome 1p32-p31 deletion syndrome DOID:0060409 Brain malformations with or without urinary tract defects 613735 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-15 nfixa 4784 NFIX Marshall-Smith syndrome DOID:0050858 Marshall-Smith syndrome 602535 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080722-15 nfixa 4784 NFIX Sotos syndrome DOID:14748 Sotos syndrome 2 614753 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-5000 nfixb 4784 NFIX Marshall-Smith syndrome DOID:0050858 Marshall-Smith syndrome 602535 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-5000 nfixb 4784 NFIX Sotos syndrome DOID:14748 Sotos syndrome 2 614753 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121204-3 nfkb1 4790 NFKB1 Immunodeficiency, common variable, 12 616576 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6701 nfkb2 4791 NFKB2 common variable immunodeficiency DOID:12177 Immunodeficiency, common variable, 10 615577 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2227 nfkbiaa 4792 NFKBIA Ectodermal dysplasia and immunodeficiency 2 612132 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1819 nfkbiab 4792 NFKBIA Ectodermal dysplasia and immunodeficiency 2 612132 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-7 nfkbil1 4795 NFKBIL1 rheumatoid arthritis DOID:7148 {Rheumatoid arthritis, susceptibility to} 180300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-365 nfu1 27247 NFU1 multiple mitochondrial dysfunctions syndrome 1 DOID:0080133 Multiple mitochondrial dysfunctions syndrome 1 605711 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-176 ngfa 4803 NGF hereditary sensory and autonomic neuropathy type 5 DOID:0070145 Neuropathy, hereditary sensory and autonomic, type V 608654 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000629-2 ngfb 4803 NGF hereditary sensory and autonomic neuropathy type 5 DOID:0070145 Neuropathy, hereditary sensory and autonomic, type V 608654 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-535 ngly1 55768 NGLY1 NGLY1-deficiency DOID:0060728 Congenital disorder of deglycosylation 615273 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2515 nhej1 79840 NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100318-2 nhlrc2 374354 NHLRC2 FINCA syndrome 618278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-533 nhp2 55651 NHP2 autosomal recessive dyskeratosis congenita 2 DOID:0070017 Dyskeratosis congenita, autosomal recessive 2 613987 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090617-1 nhsa 4810 NHS cataract 40 DOID:0110272 Cataract 40, X-linked 302200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090617-1 nhsa 4810 NHS Nance-Horan syndrome DOID:0060599 Nance-Horan syndrome 302350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090617-2 nhsb 4810 NHS cataract 40 DOID:0110272 Cataract 40, X-linked 302200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090617-2 nhsb 4810 NHS Nance-Horan syndrome DOID:0060599 Nance-Horan syndrome 302350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070725-1 nin 51199 NIN Seckel syndrome 7 DOID:0070011 ?Seckel syndrome 7 614851 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-164 nipa1 123606 NIPA1 hereditary spastic paraplegia 6 DOID:0110811 Spastic paraplegia 6, autosomal dominant 600363 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-412 nipal4 348938 NIPAL4 autosomal recessive congenital ichthyosis 6 DOID:0060715 Ichthyosis, congenital, autosomal recessive 6 612281 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-121 nipbla 25836 NIPBL Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 122470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6070 nipblb 25836 NIPBL Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 122470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010404-1 nkx2.1 7080 NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010404-1 nkx2.1 7080 NKX2-1 choreatic disease DOID:12859 Chorea, hereditary benign 118700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010404-1 nkx2.1 7080 NKX2-1 thyroid gland papillary carcinoma DOID:3969 {Thyroid cancer, nonmedullary, 1} 188550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 atrial heart septal defect 7 DOID:0110112 Atrial septal defect 7, with or without AV conduction defects 108900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 congenital nongoitrous hypothyroidism 5 DOID:0070125 Hypothyroidism, congenital nongoitrous, 5 225250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 double outlet right ventricle DOID:6406 Conotruncal heart malformations, variable 217095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 hypoplastic left heart syndrome DOID:9955 Hypoplastic left heart syndrome 2 614435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-321 nkx2.5 1482 NKX2-5 ventricular septal defect DOID:1657 Ventricular septal defect 3 614432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-179 nkx2.7 137814 NKX2-6 double outlet right ventricle DOID:6406 Conotruncal heart malformations 217095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-179 nkx2.7 137814 NKX2-6 double outlet right ventricle DOID:6406 Persistent truncus arteriosus 217095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030127-1 nkx3-2 579 NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070626-1 nkx6.2 84504 NKX6-2 spastic ataxia 8 DOID:0080252 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071219-1 nlgn3a 54413 NLGN3 {Asperger syndrome susceptibility, X-linked 1} 300494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071219-1 nlgn3a 54413 NLGN3 {Autism susceptibility, X-linked 1} 300425 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-197 nlgn3b 54413 NLGN3 {Asperger syndrome susceptibility, X-linked 1} 300494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-197 nlgn3b 54413 NLGN3 {Autism susceptibility, X-linked 1} 300425 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-2 nlgn4xa 57502 NLGN4X {Asperger syndrome susceptibility, X-linked 2} 300497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-2 nlgn4xa 57502 NLGN4X {Autism susceptibility, X-linked 2} 300495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-2 nlgn4xa 57502 NLGN4X Mental retardation, X-linked 300495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-1 nlgn4xb 57502 NLGN4X {Asperger syndrome susceptibility, X-linked 2} 300497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-1 nlgn4xb 57502 NLGN4X {Autism susceptibility, X-linked 2} 300495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100309-1 nlgn4xb 57502 NLGN4X Mental retardation, X-linked 300495 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-39 nme8 51314 NME8 primary ciliary dyskinesia 6 DOID:0110606 Ciliary dyskinesia, primary, 6 610852 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-101 nmnat1 64802 NMNAT1 Leber congenital amaurosis 9 DOID:0110005 Leber congenital amaurosis 9 608553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2592 nnt 23530 NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-5 nnt2 23530 NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6376 nobox 135935 NOBOX premature ovarian failure DOID:5426 Premature ovarian failure 5 611548 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-4 nod2 64127 NOD2 {Psoriatic arthritis, susceptibility to} 607507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-4 nod2 64127 NOD2 {Yao syndrome} 617321 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-4 nod2 64127 NOD2 Blau syndrome DOID:0050678 Blau syndrome 186580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061108-4 nod2 64127 NOD2 inflammatory bowel disease 1 DOID:0110892 {Inflammatory bowel disease 1, Crohn disease} 266600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991206-8 nog1 9241 NOG Stapes ankylosis with broad thumbs and toes 184460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991206-8 nog1 9241 NOG brachydactyly type B2 DOID:0110975 Brachydactyly, type B2 611377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991206-8 nog1 9241 NOG multiple synostoses syndrome DOID:0050794 Multiple synostoses syndrome 1 186500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991206-8 nog1 9241 NOG proximal symphalangism DOID:0050788 Symphalangism, proximal, 1A 185800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991206-8 nog1 9241 NOG tarsal-carpal coalition syndrome DOID:0050789 Tarsal-carpal coalition syndrome 186570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-8 nog3 9241 NOG Stapes ankylosis with broad thumbs and toes 184460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-8 nog3 9241 NOG brachydactyly type B2 DOID:0110975 Brachydactyly, type B2 611377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-8 nog3 9241 NOG multiple synostoses syndrome DOID:0050794 Multiple synostoses syndrome 1 186500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-8 nog3 9241 NOG proximal symphalangism DOID:0050788 Symphalangism, proximal, 1A 185800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-8 nog3 9241 NOG tarsal-carpal coalition syndrome DOID:0050789 Tarsal-carpal coalition syndrome 186570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041007-4 nop10 55505 NOP10 autosomal recessive dyskeratosis congenita 1 DOID:0070015 Dyskeratosis congenita, autosomal recessive 1 224230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040109-1 nop56 10528 NOP56 spinocerebellar ataxia type 36 DOID:0050983 Spinocerebellar ataxia 36 614153 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040305-1 nos2a 4843 NOS2 {Malaria, resistance to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040305-1 nos2a 4843 NOS2 essential hypertension DOID:10825 {Hypertension, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080916-1 nos2b 4843 NOS2 {Malaria, resistance to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080916-1 nos2b 4843 NOS2 essential hypertension DOID:10825 {Hypertension, susceptibility to} 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-173 notch1a 4851 NOTCH1 Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 5 616028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-173 notch1a 4851 NOTCH1 aortic valve disease 1 DOID:0080333 Aortic valve disease 1 109730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-183 notch1b 4851 NOTCH1 Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 5 616028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-183 notch1b 4851 NOTCH1 aortic valve disease 1 DOID:0080333 Aortic valve disease 1 109730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-4 notch2 4853 NOTCH2 Alagille syndrome DOID:9245 Alagille syndrome 2 610205 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-4 notch2 4853 NOTCH2 Hajdu-Cheney syndrome DOID:2736 Hajdu-Cheney syndrome 102500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-5 notch3 4854 NOTCH3 Lateral meningocele syndrome 130720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-5 notch3 4854 NOTCH3 CADASIL 1 DOID:0111035 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000329-5 notch3 4854 NOTCH3 infantile myofibromatosis DOID:0080109 ?Myofibromatosis, infantile 2 615293 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3161 npc1 4864 NPC1 Niemann-Pick disease type C1 DOID:0070113 Niemann-Pick disease, type C1 257220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3161 npc1 4864 NPC1 Niemann-Pick disease type C1 DOID:0070113 Niemann-Pick disease, type D 257220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-5 npc1l1 29881 NPC1L1 [Ezetimibe, nonresponse to] 617966 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-5 npc1l1 29881 NPC1L1 [Low density lipoprotein cholesterol level QTL 7] 617966 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021206-13 npc2 10577 NPC2 Niemann-Pick disease type C2 DOID:0070114 Niemann-pick disease, type C2 607625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1234 nphp1 4867 NPHP1 Joubert syndrome 4 DOID:0110999 Joubert syndrome 4 609583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1234 nphp1 4867 NPHP1 nephronophthisis 1 DOID:0111112 Nephronophthisis 1, juvenile 256100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1234 nphp1 4867 NPHP1 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome-1 266900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-117 nphp3 27031 NPHP3 Meckel syndrome 7 DOID:0070121 Meckel syndrome 7 267010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-117 nphp3 27031 NPHP3 nephronophthisis 3 DOID:0111114 Nephronophthisis 3 604387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-117 nphp3 27031 NPHP3 renal-hepatic-pancreatic dysplasia DOID:0060259 Renal-hepatic-pancreatic dysplasia 1 208540 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-715 nphp4 261734 NPHP4 nephronophthisis 4 DOID:0111115 Nephronophthisis 4 606966 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-715 nphp4 261734 NPHP4 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome 4 606996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051102-1 nphs1 4868 NPHS1 nephrotic syndrome type 1 DOID:0080390 Nephrotic syndrome, type 1 256300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051102-2 nphs2 7827 NPHS2 nephrotic syndrome type 2 DOID:0080379 Nephrotic syndrome, type 2 600995 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021028-1 npm1a 4869 NPM1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080723-7 npm1b 4869 NPM1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-95 nppa 4878 NPPA Atrial standstill 2 615745 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-95 nppa 4878 NPPA familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 6 612201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141030-2 npr2 4882 NPR2 Short stature with nonspecific skeletal abnormalities 616255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141030-2 npr2 4882 NPR2 acromesomelic dysplasia, Maroteaux type DOID:0080050 Acromesomelic dysplasia, Maroteaux type 602875 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141030-2 npr2 4882 NPR2 Miura type epiphyseal chondrodysplasia DOID:0070316 Epiphyseal chondrodysplasia, Miura type 615923 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-91 npr3 4883 NPR3 ?Hypertension, salt-resistant ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-93 nprl2 10641 NPRL2 Epilepsy, familial focal, with variable foci 2 617116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1348 nprl3 8131 NPRL3 Epilepsy, familial focal, with variable foci 3 617118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1226 nqo1 1728 NQO1 {Benzene toxicity, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1226 nqo1 1728 NQO1 {Breast cancer, poor survival after chemotherapy for} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1226 nqo1 1728 NQO1 {Leukemia, post-chemotherapy, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070130-1 nr0b1 190 NR0B1 46 XY gonadal dysgenesis DOID:14448 46XY sex reversal 2, dosage-sensitive 300018 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070130-1 nr0b1 190 NR0B1 X-linked adrenal hypoplasia congenita DOID:0080156 Adrenal hypoplasia, congenital 300200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-1 nr0b2a 8431 NR0B2 obesity DOID:9970 Obesity, mild, early-onset 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-9 nr0b2b 8431 NR0B2 obesity DOID:9970 Obesity, mild, early-onset 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-313 nr1h4 9971 NR1H4 progressive familial intrahepatic cholestasis 5 DOID:0070225 Cholestasis, progressive familial intrahepatic, 5 617049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-63 nr2e3 10002 NR2E3 enhanced S-cone syndrome DOID:0090059 Enhanced S-cone syndrome 268100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-63 nr2e3 10002 NR2E3 retinitis pigmentosa 37 DOID:0110399 Retinitis pigmentosa 37 611131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-115 nr2f1a 7025 NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome 615722 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1438 nr2f1b 7025 NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome 615722 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-252 nr2f2 7026 NR2F2 Congenital heart defects, multiple types, 4 615779 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-503 nr3c1 2908 NR3C1 Glucocorticoid resistance 615962 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-23 nr3c2 4306 NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 605115 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-23 nr3c2 4306 NR3C2 autosomal dominant pseudohypoaldosteronism type 1 DOID:0060855 Pseudohypoaldosteronism type I, autosomal dominant 177735 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070824-4 nr4a3 8013 NR4A3 extraskeletal myxoid chondrosarcoma DOID:6496 Chondrosarcoma, extraskeletal myxoid 612237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010504-1 nr5a1a 2516 NR5A1 46, XX sex reversal 4 617480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010504-1 nr5a1a 2516 NR5A1 46 XY gonadal dysgenesis DOID:14448 46XY sex reversal 3 612965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010504-1 nr5a1a 2516 NR5A1 premature ovarian failure DOID:5426 Adrenocortical insufficiency 612964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010504-1 nr5a1a 2516 NR5A1 premature ovarian failure DOID:5426 Premature ovarian failure 7 612964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010504-1 nr5a1a 2516 NR5A1 spermatogenic failure 8 DOID:0070169 Spermatogenic failure 8 613957 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-6 nr5a1b 2516 NR5A1 46, XX sex reversal 4 617480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-6 nr5a1b 2516 NR5A1 46 XY gonadal dysgenesis DOID:14448 46XY sex reversal 3 612965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-6 nr5a1b 2516 NR5A1 premature ovarian failure DOID:5426 Adrenocortical insufficiency 612964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-6 nr5a1b 2516 NR5A1 premature ovarian failure DOID:5426 Premature ovarian failure 7 612964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040702-6 nr5a1b 2516 NR5A1 spermatogenic failure 8 DOID:0070169 Spermatogenic failure 8 613957 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS Melanocytic nevus syndrome, congenital, somatic 137550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS Neurocutaneous melanosis, somatic 249400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS autoimmune lymphoproliferative syndrome type 4 DOID:0110117 ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS epidermal nevus DOID:0111162 Epidermal nevus, somatic 162900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS Noonan syndrome 6 DOID:0060584 Noonan syndrome 6 613224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-166 nras 4893 NRAS thyroid gland follicular carcinoma DOID:3962 Thyroid carcinoma, follicular, somatic 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-113 nrg1 3084 NRG1 schizophrenia 6 DOID:0070082 {?Schizophrenia, susceptibility to} 603013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040723-8 nrip1a 8204 NRIP1 ?Congenital anomalies of kidney and urinary tract 3 618270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4173 nrip1b 8204 NRIP1 ?Congenital anomalies of kidney and urinary tract 3 618270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050729-1 nrl 4901 NRL Retinal degeneration, autosomal recessive, clumped pigment type ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050729-1 nrl 4901 NRL retinitis pigmentosa 27 DOID:0110397 Retinitis pigmentosa 27 613750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070206-1 nrxn1a 9378 NRXN1 Pitt-Hopkins-like syndrome 2 614325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070206-1 nrxn1a 9378 NRXN1 {Schizophrenia, susceptibility to, 17} 614332 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070206-3 nrxn1b 9378 NRXN1 Pitt-Hopkins-like syndrome 2 614325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070206-3 nrxn1b 9378 NRXN1 {Schizophrenia, susceptibility to, 17} 614332 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080519-3 nsd1a 64324 NSD1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080519-3 nsd1a 64324 NSD1 Sotos syndrome DOID:14748 Sotos syndrome 1 117550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080519-2 nsd1b 64324 NSD1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080519-2 nsd1b 64324 NSD1 Sotos syndrome DOID:14748 Sotos syndrome 1 117550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-163 nsdhl 50814 NSDHL CHILD syndrome 308050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-163 nsdhl 50814 NSDHL CK syndrome 300831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-128 nsmce2 286053 NSMCE2 Seckel syndrome 10 DOID:0070008 Seckel syndrome 10 617253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-32 nsmfa 26012 NSMF hypogonadotropic hypogonadism 9 with or without anosmia DOID:0090085 Hypogonadotropic hypogonadism 9 with or without anosmia 614838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080603-4 nsmfb 26012 NSMF hypogonadotropic hypogonadism 9 with or without anosmia DOID:0090085 Hypogonadotropic hypogonadism 9 with or without anosmia 614838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4017 nsun2 54888 NSUN2 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 5 611091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3566 nt5c2a 22978 NT5C2 hereditary spastic paraplegia 45 DOID:0110797 Spastic paraplegia 45, autosomal recessive 613162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-522 nt5c2b 22978 NT5C2 hereditary spastic paraplegia 45 DOID:0110797 Spastic paraplegia 45, autosomal recessive 613162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-439 nt5c3a 51251 NT5C3A hemolytic anemia DOID:583 Anemia, hemolytic, due to UMPH1 deficiency 266120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1261 nt5e 4907 NT5E Calcification of joints and arteries 211800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141030-1 ntf4 4909 NTF4 open-angle glaucoma DOID:1067 Glaucoma 1, open angle, 1O 613100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120511-4 nthl1 4913 NTHL1 familial adenomatous polyposis 3 DOID:0080411 Familial adenomatous polyposis 3 616415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-169 ntn1a 9423 NTN1 Mirror movements 4 618264 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-168 ntn1b 9423 NTN1 Mirror movements 4 618264 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-118 ntrk1 4914 NTRK1 familial medullary thyroid carcinoma DOID:0050547 Medullary thyroid carcinoma, familial 155240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-118 ntrk1 4914 NTRK1 hereditary sensory neuropathy type 4 DOID:0070146 Insensitivity to pain, congenital, with anhidrosis 256800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010126-1 ntrk2a 4915 NTRK2 Obesity, hyperphagia, and developmental delay 613886 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010126-1 ntrk2a 4915 NTRK2 early infantile epileptic encephalopathy 58 DOID:0080285 Epileptic encephalopathy, early infantile, 58 617830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010126-2 ntrk2b 4915 NTRK2 Obesity, hyperphagia, and developmental delay 613886 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010126-2 ntrk2b 4915 NTRK2 early infantile epileptic encephalopathy 58 DOID:0080285 Epileptic encephalopathy, early infantile, 58 617830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-140 nubpl 80224 NUBPL Mitochondrial complex I deficiency, nuclear type 21 618242 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-95 nudt15 55270 NUDT15 {Thiopurines, poor metabolism of, 2} 616903 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110517-1 numa1 4926 NUMA1 acute promyelocytic leukemia DOID:0060318 Leukemia, acute promyelocytic, somatic 612376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-245 nup107 57122 NUP107 Galloway-Mowat syndrome 7 618348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-245 nup107 57122 NUP107 nephrotic syndrome type 11 DOID:0080385 Nephrotic syndrome, type 11 616730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-245 nup107 57122 NUP107 ovarian dysgenesis 6 DOID:0080498 ?Ovarian dysgenesis 6 618078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2941 nup133 55746 NUP133 ?Galloway-Mowat syndrome 8 618349 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2941 nup133 55746 NUP133 nephrotic syndrome type 18 DOID:0080393 Nephrotic syndrome, type 18 618177 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-711 nup155 9631 NUP155 familial atrial fibrillation DOID:0050650 ?Atrial fibrillation 15 615770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1603 nup160 23279 NUP160 nephrotic syndrome type 19 DOID:0080394 ?Nephrotic syndrome, type 19 618178 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040715-8 nup205 23165 NUP205 nephrotic syndrome type 13 DOID:0080381 ?Nephrotic syndrome, type 13 616893 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110203-3 nup214 8021 NUP214 {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110203-3 nup214 8021 NUP214 acute lymphocytic leukemia DOID:9952 Leukemia, T-cell acute lymphoblastic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110203-3 nup214 8021 NUP214 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-363 nup37 79023 NUP37 ?Microcephaly 24, primary, autosomal recessive 618179 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-145 nup85 79902 NUP85 nephrotic syndrome type 17 DOID:0080392 Nephrotic syndrome, type 17 618176 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-297 nup88 4927 NUP88 Fetal akinesia deformation sequence 4 618393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-46 nup93 9688 NUP93 nephrotic syndrome type 12 DOID:0080387 Nephrotic syndrome, type 12 616892 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-48 nus1 116150 NUS1 autosomal dominant mental retardation 55 DOID:0080227 Mental retardation, autosomal dominant 55, with seizures 617831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-48 nus1 116150 NUS1 congenital disorder of glycosylation Iaa DOID:0080553 ?Congenital disorder of glycosylation, type 1aa 617082 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-75 nxn 64359 NXN Robinow syndrome, autosomal recessive 2 618529 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061026-3 nyx 60506 NYX congenital stationary night blindness 1A DOID:0110870 Night blindness, congenital stationary (complete), 1A, X-linked 310500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-148 oat 4942 OAT gyrate atrophy DOID:1415 Gyrate atrophy of choroid and retina with or without ornithinemia 258870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-649 obsl1a 23363 OBSL1 3-M syndrome DOID:0060241 3-M syndrome 2 612921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-29 obsl1b 23363 OBSL1 3-M syndrome DOID:0060241 3-M syndrome 2 612921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-4 oca2 4948 OCA2 [Skin/hair/eye pigmentation 1, blond/brown hair] 227220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-4 oca2 4948 OCA2 [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-4 oca2 4948 OCA2 oculocutaneous albinism type II DOID:0070096 Albinism, brown oculocutaneous 203200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-4 oca2 4948 OCA2 oculocutaneous albinism type II DOID:0070096 Albinism, oculocutaneous, type II 203200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2685 oclna 100506658 OCLN pseudo-TORCH syndrome 1 DOID:0050656 Pseudo-TORCH syndrome 1 251290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-43 oclnb 100506658 OCLN pseudo-TORCH syndrome 1 DOID:0050656 Pseudo-TORCH syndrome 1 251290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-61 ocrl 4952 OCRL Dent disease DOID:0050699 Dent disease 2 300555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-61 ocrl 4952 OCRL oculocerebrorenal syndrome DOID:1056 Lowe syndrome 309000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010816-1 odc1 4953 ODC1 colorectal cancer DOID:9256 {Colonic adenoma recurrence, reduced risk of} 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5427 ofd1 8481 OFD1 Joubert syndrome 10 DOID:0110981 Joubert syndrome 10 300804 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5427 ofd1 8481 OFD1 orofaciodigital syndrome I DOID:0060316 Orofaciodigital syndrome I 311200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5427 ofd1 8481 OFD1 retinitis pigmentosa 23 DOID:0110412 ?Retinitis pigmentosa 23 300424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5427 ofd1 8481 OFD1 Simpson-Golabi-Behmel syndrome type 2 DOID:0080342 Simpson-Golabi-Behmel syndrome, type 2 300209 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2143 ogdha 4967 OGDH Alpha-ketoglutarate dehydrogenase deficiency 203740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-8 ogdhb 4967 OGDH Alpha-ketoglutarate dehydrogenase deficiency 203740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-932 ogg1 4968 OGG1 nonpapillary renal cell carcinoma DOID:0050387 Renal cell carcinoma, clear cell, somatic 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9631 ogt.1 8473 OGT X-linked mental retardation 106 DOID:0080240 Mental retardation, X-linked 106 300997 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051128-1 ogt.2 8473 OGT X-linked mental retardation 106 DOID:0080240 Mental retardation, X-linked 106 300997 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-7 opa1 4976 OPA1 Behr syndrome 210000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-7 opa1 4976 OPA1 {Glaucoma, normal tension, susceptibility to} 606657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-7 opa1 4976 OPA1 Optic atrophy plus syndrome 125250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-7 opa1 4976 OPA1 mitochondrial DNA depletion syndrome 14 DOID:0080336 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 616896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-7 opa1 4976 OPA1 optic atrophy DOID:5723 Optic atrophy 1 165500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050210-1 opa3 80207 OPA3 3-methylglutaconic aciduria type 3 DOID:0110004 3-methylglutaconic aciduria, type III 258501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050210-1 opa3 80207 OPA3 optic atrophy DOID:5723 Optic atrophy 3 with cataract 165300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-3 opcml 4978 OPCML ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-464 ophn1 4983 OPHN1 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance DOID:0080311 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121214-293 oplah 26873 OPLAH 5-oxoprolinase deficiency 260005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990604-41 opn1lw1 5956 OPN1LW blue cone monochromacy DOID:0050679 Blue cone monochromacy 303700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990604-41 opn1lw1 5956 OPN1LW red color blindness DOID:13910 Colorblindness, protan 303900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991109-25 opn1sw1 611 OPN1SW blue color blindness DOID:11661 Colorblindness, tritan 190900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8103 optn 10133 OPTN {Glaucoma, normal tension, susceptibility to} 606657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8103 optn 10133 OPTN amyotrophic lateral sclerosis type 12 DOID:0060203 Amyotrophic lateral sclerosis 12 613435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8103 optn 10133 OPTN primary open angle glaucoma DOID:1070 Glaucoma 1, open angle, E 137760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110721-1 orai1a 84876 ORAI1 Immunodeficiency 9 612782 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110721-1 orai1a 84876 ORAI1 tubular aggregate myopathy DOID:0080089 Myopathy, tubular aggregate, 2 615883 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-100 orai1b 84876 ORAI1 Immunodeficiency 9 612782 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-100 orai1b 84876 ORAI1 tubular aggregate myopathy DOID:0080089 Myopathy, tubular aggregate, 2 615883 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6960 orc1 4998 ORC1 Meier-Gorlin syndrome 1 DOID:0080512 Meier-Gorlin syndrome 1 224690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2224 orc4 5000 ORC4 Meier-Gorlin syndrome 2 DOID:0080513 Meier-Gorlin syndrome 2 613800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2976 orc6 23594 ORC6 Meier-Gorlin syndrome 3 DOID:0080514 Meier-Gorlin syndrome 3 613803 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091116-46 osbpl2a 9885 OSBPL2 autosomal dominant nonsyndromic deafness 67 DOID:0110588 Deafness, autosomal dominant 67 616340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6138 osbpl2b 9885 OSBPL2 autosomal dominant nonsyndromic deafness 67 DOID:0110588 Deafness, autosomal dominant 67 616340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7880 osgep 55644 OSGEP Galloway-Mowat syndrome 3 DOID:0080245 Galloway-Mowat syndrome 3 617729 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-48 osmr 9180 OSMR primary cutaneous amyloidosis DOID:0050639 Amyloidosis, primary localized cutaneous, 1 105250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-270 ostm1 28962 OSTM1 autosomal recessive osteopetrosis 5 DOID:0110939 Osteopetrosis, autosomal recessive 5 259720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-422 otc 5009 OTC ornithine carbamoyltransferase deficiency DOID:9271 Ornithine transcarbamylase deficiency 311250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7778 otofa 9381 OTOF autosomal recessive nonsyndromic deafness 9 DOID:0110535 Auditory neuropathy, autosomal recessive, 1 601071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7778 otofa 9381 OTOF autosomal recessive nonsyndromic deafness 9 DOID:0110535 Deafness, autosomal recessive 9 601071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110406-5 otofb 9381 OTOF autosomal recessive nonsyndromic deafness 9 DOID:0110535 Auditory neuropathy, autosomal recessive, 1 601071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110406-5 otofb 9381 OTOF autosomal recessive nonsyndromic deafness 9 DOID:0110535 Deafness, autosomal recessive 9 601071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120228-1 otog 340990 OTOG autosomal recessive nonsyndromic deafness 18B DOID:0110474 Deafness, autosomal recessive 18B 614945 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-93 otogl 283310 OTOGL autosomal recessive nonsyndromic deafness 84B DOID:0110530 Deafness, autosomal recessive 84B 614944 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-974 otud6b 51633 OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2157 otulina 90268 OTULIN otulipenia DOID:0080163 Autoinflammation, panniculitis, and dermatosis syndrome 617099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-627 otulinb 90268 OTULIN otulipenia DOID:0080163 Autoinflammation, panniculitis, and dermatosis syndrome 617099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-406 otx2b 5015 OTX2 hypopituitarism DOID:9406 Pituitary hormone deficiency, combined, 6 613986 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-406 otx2b 5015 OTX2 microphthalmia DOID:10629 Microphthalmia, syndromic 5 610125 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-406 otx2b 5015 OTX2 microphthalmia DOID:10629 Retinal dystrophy, early-onset, with or without pituitary dysfunction 610125 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030508-1 otx5 1406 CRX cone-rod dystrophy 2 DOID:0111005 Cone-rod retinal dystrophy-2 120970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030508-1 otx5 1406 CRX Leber congenital amaurosis 7 DOID:0110333 Leber congenital amaurosis 7 613829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040723-3 oxct1a 5019 OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency 245050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-212 oxct1b 5019 OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency 245050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030319-2 p2rx2 22953 P2RX2 autosomal dominant nonsyndromic deafness 41 DOID:0110567 Deafness, autosomal dominant 41 608224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-4 p2ry12 64805 P2RY12 platelet-type bleeding disorder 8 DOID:0060692 Bleeding disorder, platelet-type, 8 609821 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-35 p3h1 64175 P3H1 osteogenesis imperfecta type 8 DOID:0110336 Osteogenesis imperfecta, type VIII 610915 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-44 p3h2 55214 P3H2 Myopia, high, with cataract and vitreoretinal degeneration 614292 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030827-1 p4ha2 8974 P4HA2 Myopia 25, autosomal dominant 617238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080610-1 p4hb 5034 P4HB Cole-Carpenter syndrome DOID:0060438 Cole-Carpenter syndrome 1 112240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110131-7 p4htm 54681 P4HTM Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 618493 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2401 pabpn1 8106 PABPN1 oculopharyngeal muscular dystrophy DOID:11719 Oculopharyngeal muscular dystrophy 164300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-244 pacs1a 55690 PACS1 Schuurs-Hoeijmakers Syndrome DOID:0070047 Schuurs-Hoeijmakers syndrome 615009 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121001-2 pacs1b 55690 PACS1 Schuurs-Hoeijmakers Syndrome DOID:0070047 Schuurs-Hoeijmakers syndrome 615009 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081218-1 pacs2 23241 PACS2 early infantile epileptic encephalopathy 66 DOID:0080446 Epileptic encephalopathy, early infantile, 66 618067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-2 pafah1b1a 5048 PAFAH1B1 lissencephaly DOID:0050453 Lissencephaly 1 607432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-2 pafah1b1a 5048 PAFAH1B1 lissencephaly DOID:0050453 Subcortical laminar heterotopia 607432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-3 pafah1b1b 5048 PAFAH1B1 lissencephaly DOID:0050453 Lissencephaly 1 607432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-3 pafah1b1b 5048 PAFAH1B1 lissencephaly DOID:0050453 Subcortical laminar heterotopia 607432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-2 pah 5053 PAH phenylketonuria DOID:9281 [Hyperphenylalaninemia, non-PKU mild] 261600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-2 pah 5053 PAH phenylketonuria DOID:9281 Phenylketonuria 261600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-29 pak1 5058 PAK1 Intellectual developmental disorder with macrocephaly, seizures, and speech delay 618158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-43 palb2 79728 PALB2 {Pancreatic cancer, susceptibility to, 3} 613348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-43 palb2 79728 PALB2 breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-43 palb2 79728 PALB2 Fanconi anemia complementation group N DOID:0111094 Fanconi anemia, complementation group N 610832 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-252 palld 23022 PALLD {Pancreatic cancer, susceptibility to, 1} 606856 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1776 pam16 51025 PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1952 pank2 80025 PANK2 HARP syndrome 607236 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1952 pank2 80025 PANK2 pantothenate kinase-associated neurodegeneration DOID:3981 Neurodegeneration with brain iron accumulation 1 234200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-766 panx1a 24145 PANX1 Oocyte maturation defect 7 618550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-192 panx1b 24145 PANX1 Oocyte maturation defect 7 618550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061110-85 papss2a 9060 PAPSS2 spondyloepimetaphyseal dysplasia, Pakistani type DOID:0050812 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010323-5 papss2b 9060 PAPSS2 spondyloepimetaphyseal dysplasia, Pakistani type DOID:0050812 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-5 park7 11315 PARK7 Parkinson's disease 7 DOID:0060370 Parkinson disease 7, autosomal recessive early-onset 606324 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-880 parn 5073 PARN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 616371 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-880 parn 5073 PARN autosomal recessive dyskeratosis congenita 6 DOID:0070024 Dyskeratosis congenita, autosomal recessive 6 616353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4219 pars2 25973 PARS2 Epileptic encephalopathy, early infantile, 75 618437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121214-350 patl2 197135 PATL2 Oocyte maturation defect 4 617743 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-182 pax1a 5075 PAX1 ?Otofaciocervical syndrome 2 615560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-372 pax1b 5075 PAX1 ?Otofaciocervical syndrome 2 615560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-8 pax2a 5076 PAX2 focal segmental glomerulosclerosis 7 DOID:0111132 Glomerulosclerosis, focal segmental, 7 616002 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-8 pax2a 5076 PAX2 renal coloboma syndrome DOID:0090006 Papillorenal syndrome 120330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001030-4 pax2b 5076 PAX2 focal segmental glomerulosclerosis 7 DOID:0111132 Glomerulosclerosis, focal segmental, 7 616002 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001030-4 pax2b 5076 PAX2 renal coloboma syndrome DOID:0090006 Papillorenal syndrome 120330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-52 pax3a 5077 PAX3 Craniofacial-deafness-hand syndrome 122880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-52 pax3a 5077 PAX3 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma 2, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-52 pax3a 5077 PAX3 Waardenburg syndrome type 1 DOID:0110948 Waardenburg syndrome, type 1 193500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-52 pax3a 5077 PAX3 Waardenburg syndrome type 3 DOID:0110949 Waardenburg syndrome, type 3 148820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-53 pax3b 5077 PAX3 Craniofacial-deafness-hand syndrome 122880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-53 pax3b 5077 PAX3 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma 2, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-53 pax3b 5077 PAX3 Waardenburg syndrome type 1 DOID:0110948 Waardenburg syndrome, type 1 193500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-53 pax3b 5077 PAX3 Waardenburg syndrome type 3 DOID:0110949 Waardenburg syndrome, type 3 148820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-244 pax4 5078 PAX4 diabetic ketoacidosis DOID:1837 {Diabetes mellitus, ketosis-prone, susceptibility to} 612227 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-244 pax4 5078 PAX4 maturity-onset diabetes of the young type 9 DOID:0111107 Maturity-onset diabetes of the young, type IX 612225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-244 pax4 5078 PAX4 type 2 diabetes mellitus DOID:9352 Diabetes mellitus, type 2 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001030-2 pax5 5079 PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3} 615545 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 Foveal hypoplasia 1 136520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 Keratitis 148190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 Optic nerve hypoplasia 165550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 aniridia DOID:12271 Aniridia 106210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 aniridia DOID:12271 Cataract with late-onset corneal dystrophy 106210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 coloboma DOID:12270 ?Coloboma, ocular 120200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 coloboma of optic nerve DOID:11975 ?Coloboma of optic nerve 120430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 coloboma of optic nerve DOID:11975 ?Morning glory disc anomaly 120430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-200 pax6a 5080 PAX6 Peters anomaly DOID:0060673 Anterior segment dysgenesis 5, multiple subtypes 604229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 Foveal hypoplasia 1 136520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 Keratitis 148190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 Optic nerve hypoplasia 165550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 aniridia DOID:12271 Aniridia 106210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 aniridia DOID:12271 Cataract with late-onset corneal dystrophy 106210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 coloboma DOID:12270 ?Coloboma, ocular 120200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 coloboma of optic nerve DOID:11975 ?Coloboma of optic nerve 120430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 coloboma of optic nerve DOID:11975 ?Morning glory disc anomaly 120430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001031-1 pax6b 5080 PAX6 Peters anomaly DOID:0060673 Anterior segment dysgenesis 5, multiple subtypes 604229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-201 pax7a 5081 PAX7 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma 2, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080917-54 pax7b 5081 PAX7 alveolar rhabdomyosarcoma DOID:4051 Rhabdomyosarcoma 2, alveolar 268220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001030-3 pax8 7849 PAX8 congenital nongoitrous hypothyroidism 2 DOID:0070124 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 218700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-399 pax9 5083 PAX9 tooth agenesis DOID:0050591 Tooth agenesis, selective, 3 604625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000405-1 pbx1a 5087 PBX1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 617641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-11 pbx1b 5087 PBX1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 617641 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101104-10 pcare1 388939 PCARE retinitis pigmentosa 54 DOID:0110364 Retinitis pigmentosa 54 613428 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-72 pcare2 388939 PCARE retinitis pigmentosa 54 DOID:0110364 Retinitis pigmentosa 54 613428 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1787 pcbd1 5092 PCBD1 Hyperphenylalaninemia, BH4-deficient, D 264070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-246 pcca 5095 PCCA propionic acidemia DOID:14701 Propionicacidemia 606054 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2467 pccb 5096 PCCB propionic acidemia DOID:14701 Propionicacidemia 606054 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-126 pcdh12 51294 PCDH12 Microcephaly, seizures, spasticity, and brain calcification 251280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-3 pcdh15a 65217 PCDH15 autosomal recessive nonsyndromic deafness 23 DOID:0110481 Deafness, autosomal recessive 23 609533 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-3 pcdh15a 65217 PCDH15 Usher syndrome type 1D DOID:0110831 Usher syndrome, type 1D/F digenic 601067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-3 pcdh15a 65217 PCDH15 Usher syndrome type 1F DOID:0110832 Usher syndrome, type 1F 602083 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050214-1 pcdh15b 65217 PCDH15 autosomal recessive nonsyndromic deafness 23 DOID:0110481 Deafness, autosomal recessive 23 609533 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050214-1 pcdh15b 65217 PCDH15 Usher syndrome type 1D DOID:0110831 Usher syndrome, type 1D/F digenic 601067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050214-1 pcdh15b 65217 PCDH15 Usher syndrome type 1F DOID:0110832 Usher syndrome, type 1F 602083 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4218 pcdh19 57526 PCDH19 early infantile epileptic encephalopathy 9 DOID:0060848 Epileptic encephalopathy, early infantile, 9 300088 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-11 pck1 5105 PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2266 pck2 5106 PCK2 PEPCK deficiency, mitochondrial 261650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8115 pcloa 27445 PCLO pontocerebellar hypoplasia type 3 DOID:0060272 ?Pontocerebellar hypoplasia, type 3 608027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8100 pclob 27445 PCLO pontocerebellar hypoplasia type 3 DOID:0060272 ?Pontocerebellar hypoplasia, type 3 608027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-8 pcna 5111 PCNA ?Ataxia-telangiectasia-like disorder 2 615919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-26 pcnt 5116 PCNT microcephalic osteodysplastic primordial dwarfism type II DOID:0060609 Microcephalic osteodysplastic primordial dwarfism, type II 210720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071009-1 pcsk1 5122 PCSK1 {Obesity, susceptibility to, BMIQ12} 612362 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071009-1 pcsk1 5122 PCSK1 Obesity with impaired prohormone processing 600955 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060927-1 pcsk9 255738 PCSK9 Hypercholesterolemia, familial, 3 603776 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060927-1 pcsk9 255738 PCSK9 {Low density lipoprotein cholesterol level QTL 1} 603776 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090908-3 pcxa 5091 PC pyruvate carboxylase deficiency disease DOID:3651 Pyruvate carboxylase deficiency 266150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000831-1 pcxb 5091 PC pyruvate carboxylase deficiency disease DOID:3651 Pyruvate carboxylase deficiency 266150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-108 pcyt1aa 5130 PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-114 pcyt1ab 5130 PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1432 pdcd10a 11235 PDCD10 cerebral cavernous malformation 3 DOID:0060671 Cerebral cavernous malformations 3 603285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2607 pdcd10b 11235 PDCD10 cerebral cavernous malformation 3 DOID:0060671 Cerebral cavernous malformations 3 603285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1115 pde10a 10846 PDE10A Dyskinesia, limb and orofacial, infantile-onset 616921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1115 pde10a 10846 PDE10A Striatal degeneration, autosomal dominant 616922 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-207 pde11a 50940 PDE11A primary pigmented nodular adrenocortical disease DOID:0060280 Pigmented nodular adrenocortical disease, primary, 2 610475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-106 pde11al 50940 PDE11A primary pigmented nodular adrenocortical disease DOID:0060280 Pigmented nodular adrenocortical disease, primary, 2 610475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111215-4 pde1ca 5137 PDE1C ?Deafness, autosomal dominant 74 618140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090902-2 pde1cb 5137 PDE1C ?Deafness, autosomal dominant 74 618140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-23 pde3a 5139 PDE3A hypertension and brachydactyly syndrome DOID:0111247 Hypertension and brachydactyly syndrome 112410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-16 pde4d 5144 PDE4D acrodysostosis DOID:14669 Acrodysostosis 2, with or without hormone resistance 614613 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-42 pde6a 5145 PDE6A retinitis pigmentosa 43 DOID:0110379 Retinitis pigmentosa 43 613810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090421-2 pde6b 5158 PDE6B congenital stationary night blindness autosomal dominant 2 DOID:0110863 Night blindness, congenital stationary, autosomal dominant 2 163500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090421-2 pde6b 5158 PDE6B retinitis pigmentosa 40 DOID:0110375 Retinitis pigmentosa-40 613801 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1664 pde6c 5146 PDE6C cone dystrophy DOID:0050795 Cone dystrophy 4 613093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-463 pde6d 5147 PDE6D Joubert syndrome 22 DOID:0110991 ?Joubert syndrome 22 615665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030904-1 pde6gb 5148 PDE6G retinitis pigmentosa 57 DOID:0110407 Retinitis pigmentosa 57 613582 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1754 pde6ha 5149 PDE6H cone dystrophy DOID:0050795 Achromatopsia 6 610024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1754 pde6ha 5149 PDE6H cone dystrophy DOID:0050795 Retinal cone dystrophy 3 610024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-3 pde8b 8622 PDE8B primary pigmented nodular adrenocortical disease DOID:0060280 Pigmented nodular adrenocortical disease, primary, 3 614190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091117-3 pde8b 8622 PDE8B striatonigral degeneration DOID:4751 Striatal degeneration, autosomal dominant 609161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-525 pdgfba 5155 PDGFB Meningioma, SIS-related 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-525 pdgfba 5155 PDGFB basal ganglia calcification DOID:0060230 Basal ganglia calcification, idiopathic, 5 615483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-525 pdgfba 5155 PDGFB dermatofibrosarcoma protuberans DOID:3507 Dermatofibrosarcoma protuberans 607907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-332 pdgfbb 5155 PDGFB Meningioma, SIS-related 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-332 pdgfbb 5155 PDGFB basal ganglia calcification DOID:0060230 Basal ganglia calcification, idiopathic, 5 615483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-332 pdgfbb 5155 PDGFB dermatofibrosarcoma protuberans DOID:3507 Dermatofibrosarcoma protuberans 607907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-208 pdgfra 5156 PDGFRA Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 175510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-208 pdgfra 5156 PDGFRA Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-2 pdgfrb 5159 PDGFRB Kosaki overgrowth syndrome 616592 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-2 pdgfrb 5159 PDGFRB Myeloproliferative disorder with eosinophilia 131440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-2 pdgfrb 5159 PDGFRB Premature aging syndrome, Penttinen type 601812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-2 pdgfrb 5159 PDGFRB basal ganglia calcification DOID:0060230 Basal ganglia calcification, idiopathic, 4 615007 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-2 pdgfrb 5159 PDGFRB infantile myofibromatosis DOID:0080109 Myofibromatosis, infantile, 1 228550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-901 pdgfrl 5157 PDGFRL colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-901 pdgfrl 5157 PDGFRL hepatocellular carcinoma DOID:684 Hepatocellular cancer, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2719 pdha1a 5160 PDHA1 pyruvate decarboxylase deficiency DOID:3649 Pyruvate dehydrogenase E1-alpha deficiency 312170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-96 pdha1b 5160 PDHA1 pyruvate decarboxylase deficiency DOID:3649 Pyruvate dehydrogenase E1-alpha deficiency 312170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2173 pdhb 5162 PDHB pyruvate decarboxylase deficiency DOID:3649 Pyruvate dehydrogenase E1-beta deficiency 614111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1539 pdhx 8050 PDHX pyruvate decarboxylase deficiency DOID:3649 Lacticacidemia due to PDX1 deficiency 245349 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-3 pdk3a 5165 PDK3 Charcot-Marie-Tooth disease X-linked dominant 6 DOID:0110207 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1892 pdk3b 5165 PDK3 Charcot-Marie-Tooth disease X-linked dominant 6 DOID:0110207 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070308-5 pdlim4 8572 PDLIM4 osteoporosis DOID:11476 {Osteoporosis, susceptibility to} 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-70 pdp1 54704 PDP1 pyruvate decarboxylase deficiency DOID:3649 Pyruvate dehydrogenase phosphatase deficiency 608782 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4430 pdss1 23590 PDSS1 primary coenzyme Q10 deficiency 2 DOID:0070239 Coenzyme Q10 deficiency, primary, 2 614651 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-43 pdss2 57107 PDSS2 primary coenzyme Q10 deficiency 3 DOID:0070240 Coenzyme Q10 deficiency, primary, 3 614652 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-122 pdx1 3651 PDX1 maturity-onset diabetes of the young type 4 DOID:0111103 MODY, type IV 606392 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-122 pdx1 3651 PDX1 pancreatic agenesis DOID:0050877 Pancreatic agenesis 1 260370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-122 pdx1 3651 PDX1 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, type II, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8376 pdxka 8566 PDXK Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy 618511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-521 pdxkb 8566 PDXK Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy 618511 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060417-1 pdyn 5173 PDYN spinocerebellar ataxia type 23 DOID:0050973 Spinocerebellar ataxia 23 610245 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-191 pdzd7a 79955 PDZD7 Deafness, autosomal recessive 57 618003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-191 pdzd7a 79955 PDZD7 Usher syndrome type 2A DOID:0110838 {Retinal disease in Usher syndrome type IIA, modifier of} 276901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-191 pdzd7a 79955 PDZD7 Usher syndrome type 2C DOID:0110839 Usher syndrome, type IIC, GPR98/PDZD7 digenic 605472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100624-3 pdzd7b 79955 PDZD7 Deafness, autosomal recessive 57 618003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100624-3 pdzd7b 79955 PDZD7 Usher syndrome type 2A DOID:0110838 {Retinal disease in Usher syndrome type IIA, modifier of} 276901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100624-3 pdzd7b 79955 PDZD7 Usher syndrome type 2C DOID:0110839 Usher syndrome, type IIC, GPR98/PDZD7 digenic 605472 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9444 pepd 5184 PEPD Prolidase deficiency 170100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011220-2 per2 8864 PER2 advanced sleep phase syndrome 1 DOID:0110011 ?Advanced sleep phase syndrome, familial, 1 604348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000804-1 per3 8863 PER3 advanced sleep phase syndrome 3 DOID:0110013 ?Advanced sleep phase syndrome, familial, 3 616882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-608 pet100 100131801 PET100 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070530-1 pex1 5189 PEX1 Heimler syndrome 1 234580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070530-1 pex1 5189 PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070530-1 pex1 5189 PEX1 peroxisome biogenesis disorder 1A DOID:0080476 Peroxisome biogenesis disorder 1A (Zellweger) 214100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-71 pex10 5192 PEX10 Peroxisome biogenesis disorder 6B 614871 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-71 pex10 5192 PEX10 peroxisome biogenesis disorder 6A DOID:0080481 Peroxisome biogenesis disorder 6A (Zellweger) 614870 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-289 pex11b 8799 PEX11B ?Peroxisome biogenesis disorder 14B 614920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-929 pex12 5193 PEX12 infantile Refsum disease DOID:0050444 Peroxisome biogenesis disorder 3B 266510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-929 pex12 5193 PEX12 peroxisome biogenesis disorder 3A DOID:0080478 Peroxisome biogenesis disorder 3A (Zellweger) 614859 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-929 pex12 5193 PEX12 Refsum disease DOID:10582 Peroxisome biogenesis disorder 3B 266510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1544 pex13 5194 PEX13 Peroxisome biogenesis disorder 11B 614885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1544 pex13 5194 PEX13 peroxisome biogenesis disorder 11A DOID:0080485 Peroxisome biogenesis disorder 11A (Zellweger) 614883 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-169 pex14 5195 PEX14 peroxisome biogenesis disorder 13A DOID:0080487 Peroxisome biogenesis disorder 13A (Zellweger) 614887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-49 pex16 9409 PEX16 Peroxisome biogenesis disorder 8B 614877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-49 pex16 9409 PEX16 peroxisome biogenesis disorder 8A DOID:0080483 Peroxisome biogenesis disorder 8A (Zellweger) 614876 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-424 pex19 5824 PEX19 peroxisome biogenesis disorder 12A DOID:0080486 Peroxisome biogenesis disorder 12A (Zellweger) 614886 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070530-2 pex2 5828 PEX2 Peroxisome biogenesis disorder 5B 614867 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070530-2 pex2 5828 PEX2 peroxisome biogenesis disorder 5A DOID:0080480 Peroxisome biogenesis disorder 5A (Zellweger) 614866 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6584 pex26 55670 PEX26 Peroxisome biogenesis disorder 7B 614873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6584 pex26 55670 PEX26 peroxisome biogenesis disorder 7A DOID:0080482 Peroxisome biogenesis disorder 7A (Zellweger) 614872 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-979 pex3 8504 PEX3 ?Peroxisome biogenesis disorder 10B 617370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-979 pex3 8504 PEX3 peroxisome biogenesis disorder 10A DOID:0080484 Peroxisome biogenesis disorder 10A (Zellweger) 614882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-981 pex5 5830 PEX5 Peroxisome biogenesis disorder 2B 202370 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-981 pex5 5830 PEX5 peroxisome biogenesis disorder 2A DOID:0080477 Peroxisome biogenesis disorder 2A (Zellweger) 214110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-981 pex5 5830 PEX5 rhizomelic chondrodysplasia punctata type 5 DOID:0110854 Rhizomelic chondrodysplasia punctata, type 5 616716 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-252 pex6 5190 PEX6 Heimler syndrome 2 616617 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-252 pex6 5190 PEX6 Peroxisome biogenesis disorder 4B 614863 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-252 pex6 5190 PEX6 peroxisome biogenesis disorder 4A DOID:0080479 Peroxisome biogenesis disorder 4A (Zellweger) 614862 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-105 pex7 5191 PEX7 Peroxisome biogenesis disorder 9B 614879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-105 pex7 5191 PEX7 rhizomelic chondrodysplasia punctata type 1 DOID:0110851 Rhizomelic chondrodysplasia punctata, type 1 215100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121207-1 pfkla 5211 PFKL Hemolytic anemia due to phosphofructokinase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-62 pfklb 5211 PFKL Hemolytic anemia due to phosphofructokinase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-135 pfkma 5213 PFKM glycogen storage disease VII DOID:11721 Glycogen storage disease VII 232800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081114-1 pfkmb 5213 PFKM glycogen storage disease VII DOID:11721 Glycogen storage disease VII 232800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031002-33 pfn1 5216 PFN1 amyotrophic lateral sclerosis type 18 DOID:0060209 Amyotrophic lateral sclerosis 18 614808 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040116-6 pgam2 5224 PGAM2 Glycogen storage disease X 261670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-216 pgap1 80055 PGAP1 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 42 615802 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-119 pgap2 27315 PGAP2 Hyperphosphatasia with mental retardation syndrome 3 614207 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-27 pgap3 93210 PGAP3 Hyperphosphatasia with mental retardation syndrome 4 615716 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2711 pgk1 5230 PGK1 Phosphoglycerate kinase 1 deficiency 300653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1245 pgm1 5236 PGM1 congenital disorder of glycosylation It DOID:0080570 Congenital disorder of glycosylation, type It 614921 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041024-13 pgm3 5238 PGM3 Immunodeficiency 23 615816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-214 pgr 5241 PGR ?Progesterone resistance 264080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101230-3 phactr1 221692 PHACTR1 Epileptic encephalopathy, early infantile, 70 618298 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6577 phb 5245 PHB breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-39 phc1 1911 PHC1 primary autosomal recessive microcephaly 11 DOID:0070287 ?Microcephaly 11, primary, autosomal recessive 615414 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030103-2 phex 5251 PHEX X-linked dominant hypophosphatemic rickets DOID:0050445 Hypophosphatemic rickets, X-linked dominant 307800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5278 phf6 84295 PHF6 Borjeson-Forssman-Lehmann syndrome DOID:0050681 Borjeson-Forssman-Lehmann syndrome 301900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060419-1 phf8 23133 PHF8 syndromic X-linked intellectual disability Siderius type DOID:0060812 Mental retardation syndrome, X-linked, Siderius type 300263 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-647 phgdh 26227 PHGDH Neu-Laxova syndrome 1 DOID:0080076 Neu-Laxova syndrome 1 256520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-647 phgdh 26227 PHGDH PHGDH deficiency DOID:0050722 Phosphoglycerate dehydrogenase deficiency 601815 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-261 phip 55023 PHIP Developmental delay, intellectual disability, obesity, and dysmorphism 617991 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-56 phka1a 5255 PHKA1 glycogen storage disease IXd DOID:0111040 Muscle glycogenosis 300559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-81 phka1b 5255 PHKA1 glycogen storage disease IXd DOID:0111040 Muscle glycogenosis 300559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130422-1 phka2 5256 PHKA2 glycogen storage disease IXa DOID:0111042 Glycogen storage disease, type IXa1 306000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130422-1 phka2 5256 PHKA2 glycogen storage disease IXa DOID:0111042 Glycogen storage disease, type IXa2 306000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-149 phkb 5257 PHKB glycogen storage disease IXb DOID:0111041 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-825 phkg2 5261 PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-825 phkg2 5261 PHKG2 glycogen storage disease IXc DOID:0111043 Glycogen storage disease IXc 613027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000223-14 phox2a 401 PHOX2A congenital fibrosis of the extraocular muscles DOID:0080143 Fibrosis of extraocular muscles, congenital, 2 602078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-51 phox2ba 8929 PHOX2B {Neuroblastoma, susceptibility to, 2} 613013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-51 phox2ba 8929 PHOX2B Neuroblastoma with Hirschsprung disease 613013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-51 phox2ba 8929 PHOX2B congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050407-3 phox2bb 8929 PHOX2B {Neuroblastoma, susceptibility to, 2} 613013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050407-3 phox2bb 8929 PHOX2B Neuroblastoma with Hirschsprung disease 613013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050407-3 phox2bb 8929 PHOX2B congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-361 phyh 5264 PHYH Refsum disease DOID:10582 Refsum disease 266500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-33 phykpl 85007 PHYKPL [?Phosphohydroxylysinuria] 615011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100204-2 pi4kaa 5297 PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-34 pi4kab 5297 PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-94 pibf1 10464 PIBF1 Joubert syndrome 33 DOID:0080279 Joubert syndrome 33 617767 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-761 picalma 8301 PICALM acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6795 picalmb 8301 PICALM acute myeloid leukemia DOID:9119 Leukemia, acute myeloid, somatic 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-255 piezo1 9780 PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-255 piezo1 9780 PIEZO1 Lymphatic malformation 6 616843 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-949 piezo2a.1 63895 PIEZO2 Arthrogryposis, distal, with impaired proprioception and touch 617146 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-949 piezo2a.1 63895 PIEZO2 ?Marden-Walker syndrome 248700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-949 piezo2a.1 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 3 114300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-949 piezo2a.1 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 5 108145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131119-76 piezo2a.2 63895 PIEZO2 Arthrogryposis, distal, with impaired proprioception and touch 617146 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131119-76 piezo2a.2 63895 PIEZO2 ?Marden-Walker syndrome 248700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131119-76 piezo2a.2 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 3 114300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131119-76 piezo2a.2 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 5 108145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-810 piezo2b 63895 PIEZO2 Arthrogryposis, distal, with impaired proprioception and touch 617146 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-810 piezo2b 63895 PIEZO2 ?Marden-Walker syndrome 248700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-810 piezo2b 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 3 114300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-810 piezo2b 63895 PIEZO2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 5 108145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1086 piga 5277 PIGA multiple congenital anomalies-hypotonia-seizures syndrome 2 DOID:0080139 Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1086 piga 5277 PIGA paroxysmal nocturnal hemoglobinuria DOID:0060284 Paroxysmal nocturnal hemoglobinuria, somatic 300818 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2714 pigc 5279 PIGC Glycosylphosphatidylinositol biosynthesis defect 16 617816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-303 pigh 5283 PIGH Glycosylphosphatidylinositol biosynthesis defect 17 618010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-60 pigl 9487 PIGL CHIME syndrome 280000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1393 pigm 93183 PIGM Glycosylphosphatidylinositol deficiency 610293 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-114 pign 23556 PIGN multiple congenital anomalies-hypotonia-seizures syndrome 1 DOID:0080138 Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-80 pigo 84720 PIGO Hyperphosphatasia with mental retardation syndrome 2 614749 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4041 pigp 51227 PIGP early infantile epileptic encephalopathy 55 DOID:0080283 ?Epileptic encephalopathy, early infantile, 55 617599 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9793 pigq 9091 PIGQ Epileptic encephalopathy, early infantile, 77 618548 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-436 pigs 94005 PIGS Glycosylphosphatidylinositol biosynthesis defect 18 618143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-46 pigt 51604 PIGT multiple congenital anomalies-hypotonia-seizures syndrome 3 DOID:0080140 Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-46 pigt 51604 PIGT paroxysmal nocturnal hemoglobinuria DOID:0060284 ?Paroxysmal nocturnal hemoglobinuria 2 615399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121116-1 pigv 55650 PIGV Hyperphosphatasia with mental retardation syndrome 1 239300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-94 pigw 284098 PIGW Glycosylphosphatidylinositol biosynthesis defect 11 616025 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040722-2 pih1d3 139212 PIH1D3 Ciliary dyskinesia, primary, 36, X-linked 300991 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030328-39 pik3c2a 5286 PIK3C2A Oculoskeletodental syndrome 618440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA CLAPO syndrome, somatic 613089 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA Cowden syndrome 5 615108 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA Macrodactyly, somatic 155500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA CLOVES syndrome DOID:0080351 CLOVE syndrome, somatic 612918 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA colorectal cancer DOID:9256 Colorectal cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA epidermal nevus DOID:0111162 Nevus, epidermal, somatic 162900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA lung cancer DOID:1324 Nonsmall cell lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA seborrheic keratosis DOID:6498 Keratosis, seborrheic, somatic 182000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130409-1 pik3ca 5290 PIK3CA stomach cancer DOID:10534 Gastric cancer, somatic 613659 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1128 pik3cd 5293 PIK3CD Immunodeficiency 14 615513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1280 pik3r1 5295 PIK3R1 Immunodeficiency 36 616005 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1280 pik3r1 5295 PIK3R1 SHORT syndrome 269880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1280 pik3r1 5295 PIK3R1 agammaglobulinemia DOID:2583 ?Agammaglobulinemia 7, autosomal recessive 615214 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040309-1 pik3r2 5296 PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2308 pik3r5 23533 PIK3R5 ataxia with oculomotor apraxia type 3 DOID:0060557 Ataxia-oculomotor apraxia 3 615217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9636 pikfyve 200576 PIKFYVE Fleck corneal dystrophy DOID:0060448 Corneal fleck dystrophy 121850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-53 pink1 65018 PINK1 Parkinson's disease 6 DOID:0060369 Parkinson disease 6, early onset 605909 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-358 pip5k1ca 23396 PIP5K1C Lethal congenital contractural syndrome 3 611369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-21 pip5k1cb 23396 PIP5K1C Lethal congenital contractural syndrome 3 611369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9216 pitpnm3 83394 PITPNM3 cone-rod dystrophy 5 DOID:0111010 Cone-rod dystrophy 5 600977 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3623 pitx1 5307 PITX1 Liebenberg syndrome 186550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3623 pitx1 5307 PITX1 clubfoot DOID:11836 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-27 pitx2 5308 PITX2 Ring dermoid of cornea 180550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-27 pitx2 5308 PITX2 Axenfeld-Rieger syndrome type 1 DOID:0110120 Axenfeld-Rieger syndrome, type 1 180500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-27 pitx2 5308 PITX2 iridogoniodysgenesis syndrome DOID:0050786 Anterior segment dysgenesis 4 137600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041229-4 pitx3 5309 PITX3 Anterior segment dysgenesis 1, multiple subtypes 107250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041229-4 pitx3 5309 PITX3 cataract 11 multiple types DOID:0110249 Cataract 11, multiple types 610623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041229-4 pitx3 5309 PITX3 cataract 11 multiple types DOID:0110249 Cataract 11, syndromic, autosomal recessive 610623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-133 pjvk 494513 PJVK autosomal recessive nonsyndromic deafness 59 DOID:0110511 Deafness, autosomal recessive 59 610220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100707-1 pkd1a 5310 PKD1 polycystic kidney disease 1 DOID:0110858 Polycystic kidney disease 1 173900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100707-2 pkd1b 5310 PKD1 polycystic kidney disease 1 DOID:0110858 Polycystic kidney disease 1 173900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161129-1 pkd1l1 168507 PKD1L1 Heterotaxy, visceral, 8, autosomal 617205 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040827-4 pkd2 5311 PKD2 polycystic kidney disease 2 DOID:0110859 Polycystic kidney disease 2 613095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010907-1 pklr 5313 PKLR Adenosine triphosphate, elevated, of erythrocytes 102900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010907-1 pklr 5313 PKLR pyruvate kinase deficiency of red cells DOID:0111077 Pyruvate kinase deficiency 266200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-77 pkp1a 5317 PKP1 Ectodermal dysplasia/skin fragility syndrome 604536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-417 pkp1b 5317 PKP1 Ectodermal dysplasia/skin fragility syndrome 604536 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-167 pkp2 5318 PKP2 arrhythmogenic right ventricular dysplasia 9 DOID:0110077 Arrhythmogenic right ventricular dysplasia 9 609040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-45 pla2g4aa 5321 PLA2G4A Gastrointestinal ulceration, recurrent, with dysfunctional platelets 618372 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-325 pla2g4ab 5321 PLA2G4A Gastrointestinal ulceration, recurrent, with dysfunctional platelets 618372 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2079 pla2g6 8398 PLA2G6 neurodegeneration with brain iron accumulation 2a DOID:0110735 Infantile neuroaxonal dystrophy 1 256600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2079 pla2g6 8398 PLA2G6 neurodegeneration with brain iron accumulation 2b DOID:0110736 Neurodegeneration with brain iron accumulation 2B 610217 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2079 pla2g6 8398 PLA2G6 Parkinson's disease 14 DOID:0060900 Parkinson disease 14, autosomal recessive 612953 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2248 pla2g7 7941 PLA2G7 {Asthma, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2248 pla2g7 7941 PLA2G7 {Atopy, susceptibility to} 147050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2248 pla2g7 7941 PLA2G7 Platelet-activating factor acetylhydrolase deficiency 614278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-13 plaa 9373 PLAA Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060302-2 plag1 5324 PLAG1 pleomorphic adenoma DOID:452 Adenomas, salivary gland pleomorphic, somatic 181030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-181 plat 5327 PLAT Hyperfibrinolysis, familial, due to increased release of PLAT 612348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-181 plat 5327 PLAT Thrombophilia, familial, due to decreased release of PLAT 612348 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-278 plaua 5328 PLAU Alzheimer's disease 1 DOID:0080348 {Alzheimer disease, late-onset, susceptibility to} 104300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-278 plaua 5328 PLAU Quebec platelet disorder DOID:0111050 Quebec platelet disorder 601709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-15 plaub 5328 PLAU Alzheimer's disease 1 DOID:0080348 {Alzheimer disease, late-onset, susceptibility to} 104300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-15 plaub 5328 PLAU Quebec platelet disorder DOID:0111050 Quebec platelet disorder 601709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121210-1 plcb1 23236 PLCB1 early infantile epileptic encephalopathy 12 DOID:0080459 Epileptic encephalopathy, early infantile, 12 613722 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080419-1 plcb2 5330 PLCB2 Platelet PLC beta-2 deficiency ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060627-1 plcb4 5332 PLCB4 Auriculocondylar syndrome 2 614669 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-78 plcd1a 5333 PLCD1 nonsyndromic congenital nail disorder 3 DOID:0080081 Nail disorder, nonsyndromic congenital, 3, (leukonychia) 151600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9435 plcd1b 5333 PLCD1 nonsyndromic congenital nail disorder 3 DOID:0080081 Nail disorder, nonsyndromic congenital, 3, (leukonychia) 151600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061212-4 plce1 51196 PLCE1 nephrotic syndrome type 3 DOID:0080382 Nephrotic syndrome, type 3 610725 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9532 plcg2 5336 PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9532 plcg2 5336 PLCG2 familial cold autoinflammatory syndrome 3 DOID:0090064 Familial cold autoinflammatory syndrome 3 614468 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031002-2 pld1a 5337 PLD1 Cardiac valvular defect, developmental 212093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070510-3 pld1b 5337 PLD1 Cardiac valvular defect, developmental 212093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-212 pld3 23646 PLD3 spinocerebellar ataxia 46 DOID:0080288 ?Spinocerebellar ataxia 46 617770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8984 pleca 5339 PLEC ?Epidermolysis bullosa simplex with nail dystrophy 616487 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8984 pleca 5339 PLEC Epidermolysis bullosa simplex with pyloric atresia 612138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8984 pleca 5339 PLEC autosomal recessive limb-girdle muscular dystrophy type 2Q DOID:0110285 Muscular dystrophy, limb-girdle, autosomal recessive 17 613723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8984 pleca 5339 PLEC epidermolysis bullosa simplex Ogna type DOID:0060736 Epidermolysis bullosa simplex, Ogna type 131950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8984 pleca 5339 PLEC epidermolysis bullosa simplex with muscular dystrophy DOID:0090017 Epidermolysis bullosa simplex with muscular dystrophy 226670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100917-2 plecb 5339 PLEC ?Epidermolysis bullosa simplex with nail dystrophy 616487 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100917-2 plecb 5339 PLEC Epidermolysis bullosa simplex with pyloric atresia 612138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100917-2 plecb 5339 PLEC autosomal recessive limb-girdle muscular dystrophy type 2Q DOID:0110285 Muscular dystrophy, limb-girdle, autosomal recessive 17 613723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100917-2 plecb 5339 PLEC epidermolysis bullosa simplex Ogna type DOID:0060736 Epidermolysis bullosa simplex, Ogna type 131950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100917-2 plecb 5339 PLEC epidermolysis bullosa simplex with muscular dystrophy DOID:0090017 Epidermolysis bullosa simplex with muscular dystrophy 226670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090819-1 plekhg2 64857 PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia 616763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-766 plekhg5a 57449 PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate C DOID:0110198 Charcot-Marie-Tooth disease, recessive intermediate C 615376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-766 plekhg5a 57449 PLEKHG5 distal spinal muscular atrophy type 4 DOID:0111213 Spinal muscular atrophy, distal, autosomal recessive, 4 611067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090908-6 plekhg5b 57449 PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate C DOID:0110198 Charcot-Marie-Tooth disease, recessive intermediate C 615376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090908-6 plekhg5b 57449 PLEKHG5 distal spinal muscular atrophy type 4 DOID:0111213 Spinal muscular atrophy, distal, autosomal recessive, 4 611067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2752 plekhm1 9842 PLEKHM1 Osteopetrosis, autosomal dominant 3 618107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2752 plekhm1 9842 PLEKHM1 autosomal recessive osteopetrosis 6 DOID:0110945 ?Osteopetrosis, autosomal recessive 6 611497 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1411 plg 5340 PLG Dysplasminogenemia 217090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1411 plg 5340 PLG Plasminogen deficiency, type I 217090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-213 plin1 5346 PLIN1 familial partial lipodystrophy type 4 DOID:0070205 Lipodystrophy, familial partial, type 4 613877 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030619-14 plk4 10733 PLK4 microcephaly and chorioretinopathy 2 DOID:0080106 Microcephaly and chorioretinopathy, autosomal recessive, 2 616171 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-603 pln 5350 PLN dilated cardiomyopathy 1P DOID:0110439 Cardiomyopathy, dilated, 1P 609909 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-603 pln 5350 PLN hypertrophic cardiomyopathy 18 DOID:0110324 Cardiomyopathy, hypertrophic, 18 613874 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3165 plod1a 5351 PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6875 plod1b 5351 PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070326-1 plod2 5352 PLOD2 Bruck syndrome DOID:0060231 Bruck syndrome 2 609220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021031-4 plod3 8985 PLOD3 Lysyl hydroxylase 3 deficiency 612394 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001202-1 plp1a 5354 PLP1 hereditary spastic paraplegia 2 DOID:0110773 Spastic paraplegia 2, X-linked 312920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001202-1 plp1a 5354 PLP1 Pelizaeus-Merzbacher disease DOID:3210 Pelizaeus-Merzbacher disease 312080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030710-6 plp1b 5354 PLP1 hereditary spastic paraplegia 2 DOID:0110773 Spastic paraplegia 2, X-linked 312920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030710-6 plp1b 5354 PLP1 Pelizaeus-Merzbacher disease DOID:3210 Pelizaeus-Merzbacher disease 312080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1378 plpbp 11212 PLPBP Epilepsy, early-onset, vitamin B6-dependent 617290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-247 plpp6 403313 PLPP6 Phospholipid phosphatase 6 611666 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-10 pls3 5358 PLS3 Bone mineral density QTL18, osteoporosis 300910 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-22 pltp 5360 PLTP [High density lipoprotein cholesterol level QTL 9] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-432 plvapa 83483 PLVAP Diarrhea 10, protein-losing enteropathy type 618183 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-96 plvapb 83483 PLVAP Diarrhea 10, protein-losing enteropathy type 618183 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-619 pmfbp1 83449 PMFBP1 Spermatogenic failure 31 618112 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030722-6 pmm2 5373 PMM2 congenital disorder of glycosylation Ia DOID:0080552 Congenital disorder of glycosylation, type Ia 212065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 Roussy-Levy syndrome 180800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 Charcot-Marie-Tooth disease type 1A DOID:0110148 Charcot-Marie-Tooth disease, type 1A 118220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 Charcot-Marie-Tooth disease type 1E DOID:0110153 Charcot-Marie-Tooth disease, type 1E 118300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 Guillain-Barre syndrome DOID:12842 ?Neuropathy, inflammatory demyelinating 139393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6757 pmp22a 5376 PMP22 hereditary neuropathy with liability to pressure palsies DOID:0060843 Neuropathy, recurrent, with pressure palsies 162500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 Roussy-Levy syndrome 180800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 Charcot-Marie-Tooth disease type 1A DOID:0110148 Charcot-Marie-Tooth disease, type 1A 118220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 Charcot-Marie-Tooth disease type 1E DOID:0110153 Charcot-Marie-Tooth disease, type 1E 118300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 Guillain-Barre syndrome DOID:12842 ?Neuropathy, inflammatory demyelinating 139393 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4337 pmp22b 5376 PMP22 hereditary neuropathy with liability to pressure palsies DOID:0060843 Neuropathy, recurrent, with pressure palsies 162500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5809 pmpca 23203 PMPCA autosomal recessive spinocerebellar ataxia 2 DOID:0080061 Spinocerebellar ataxia, autosomal recessive 2 213200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050220-10 pmpcb 9512 PMPCB multiple mitochondrial dysfunctions syndrome 6 DOID:0070332 Multiple mitochondrial dysfunctions syndrome 6 617954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-686 pms2 5395 PMS2 Mismatch repair cancer syndrome 276300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-686 pms2 5395 PMS2 hereditary nonpolyposis colorectal cancer type 4 DOID:0070275 Colorectal cancer, hereditary nonpolyposis, type 4 614337 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-91 pmvk 10654 PMVK porokeratosis DOID:3805 Porokeratosis 1, multiple types 175800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-278 pnkd 25953 PNKD paroxysmal nonkinesigenic dyskinesia 1 DOID:0090049 Paroxysmal nonkinesigenic dyskinesia 1 118800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-433 pnkp 11284 PNKP Ataxia-oculomotor apraxia 4 616267 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-433 pnkp 11284 PNKP microcephaly, seizures, and developmental delay DOID:0080457 Microcephaly, seizures, and developmental delay 613402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140912-3 pnpla1 285848 PNPLA1 autosomal recessive congenital ichthyosis 10 DOID:0060719 Ichthyosis, congenital, autosomal recessive 10 615024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120913-3 pnpla2 57104 PNPLA2 Neutral lipid storage disease with myopathy 610717 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-4 pnpla6 10908 PNPLA6 Boucher-Neuhauser syndrome DOID:0111265 Boucher-Neuhauser syndrome 215470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-4 pnpla6 10908 PNPLA6 hereditary spastic paraplegia 39 DOID:0110790 Spastic paraplegia 39, autosomal recessive 612020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-4 pnpla6 10908 PNPLA6 Laurence-Moon syndrome DOID:1930 ?Laurence-Moon syndrome 245800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050107-4 pnpla6 10908 PNPLA6 Oliver-McFarlane syndrome DOID:0111271 Oliver-McFarlane syndrome 275400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-553 pnpla8 50640 PNPLA8 ?Mitochondrial myopathy with lactic acidosis 251950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060602-2 pnpo 55163 PNPO pyridoxamine 5'-phosphate oxidase deficiency DOID:0111329 Pyridoxamine 5'-phosphate oxidase deficiency 610090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1993 poc1a 25886 POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-54 poc1b 282809 POC1B cone-rod dystrophy 20 DOID:0111026 Cone-rod dystrophy 20 615973 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4287 pof1b 79983 POF1B premature ovarian failure DOID:5426 ?Premature ovarian failure 2B 300604 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040303-2 pofut1 23509 POFUT1 Dowling-Degos disease DOID:0060256 Dowling-Degos disease 2 615327 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-24 poglut1 56983 POGLUT1 ?Muscular dystrophy, limb-girdle, autosomal recessive 21 617232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-24 poglut1 56983 POGLUT1 Dowling-Degos disease DOID:0060256 Dowling-Degos disease 4 615696 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040914-76 pogza 23126 POGZ White-Sutton syndrome DOID:0070067 White-Sutton syndrome 616364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100609-3 pogzb 23126 POGZ White-Sutton syndrome DOID:0070067 White-Sutton syndrome 616364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030114-9 pola1 5422 POLA1 Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030114-9 pola1 5422 POLA1 Van Esch-O'Driscoll syndrome 301030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060429-1 pold1 5424 POLD1 {Colorectal cancer, susceptibility to, 10} 612591 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060429-1 pold1 5424 POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-557 pole 5426 POLE {Colorectal cancer, susceptibility to, 12} 615083 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-557 pole 5426 POLE FILS syndrome 615139 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-557 pole 5426 POLE IMAGE-I syndrome 618336 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-1 polg 5428 POLG Progressive external ophthalmoplegia, autosomal dominant 1 157640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-1 polg 5428 POLG Progressive external ophthalmoplegia, autosomal recessive 1 258450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-1 polg 5428 POLG mitochondrial DNA depletion syndrome 4a DOID:0080122 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-1 polg 5428 POLG mitochondrial DNA depletion syndrome 4b DOID:0080123 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-1 polg 5428 POLG sensory ataxic neuropathy, dysarthria, and ophthalmoparesis DOID:0111276 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-116 polg2 11232 POLG2 Mitochondrial DNA depletion syndrome 16 (hepatic type) 618528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-116 polg2 11232 POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4949 polh 5429 POLH xeroderma pigmentosum variant type DOID:0110847 Xeroderma pigmentosum, variant type 278750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5286 polr1a 25885 POLR1A acrofacial dysostosis Cincinnati type DOID:0060353 Acrofacial dysostosis, Cincinnati type 616462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1495 polr1c 9533 POLR1C hypomyelinating leukodystrophy 11 DOID:0060792 Leukodystrophy, hypomyelinating, 11 616494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1495 polr1c 9533 POLR1C Treacher Collins syndrome DOID:2908 Treacher Collins syndrome 3 248390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040930-4 polr1d 51082 POLR1D Treacher Collins syndrome DOID:2908 Treacher Collins syndrome 2 613717 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-103 polr3a 11128 POLR3A Wiedemann-Rautenstrauch syndrome 264090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-103 polr3a 11128 POLR3A hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism DOID:0060794 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2887 polr3b 55703 POLR3B hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism DOID:0060797 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030513-2 pomca 5443 POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030513-2 pomca 5443 POMC obesity DOID:9970 {Obesity, early-onset, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-294 pomcb 5443 POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-294 pomcb 5443 POMC obesity DOID:9970 {Obesity, early-onset, susceptibility to} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-991 pomgnt1 55624 POMGNT1 Retinitis pigmentosa 76 617123 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-991 pomgnt1 55624 POMGNT1 autosomal recessive limb-girdle muscular dystrophy type 2O DOID:0110292 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-991 pomgnt1 55624 POMGNT1 congenital muscular dystrophy-dystroglycanopathy type A3 DOID:0111236 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-991 pomgnt1 55624 POMGNT1 muscular dystrophy-dystroglycanopathy DOID:0050588 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-242 pomgnt2 84892 POMGNT2 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-242 pomgnt2 84892 POMGNT2 congenital muscular dystrophy-dystroglycanopathy type A8 DOID:0111231 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-119 pomk 84197 POMK congenital muscular dystrophy-dystroglycanopathy type A12 DOID:0111235 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-119 pomk 84197 POMK muscular dystrophy-dystroglycanopathy DOID:0050588 ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 616094 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-10 pomp 51371 POMP Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 601952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-10 pomp 51371 POMP Proteasome-associated autoinflammatory syndrome 2 618048 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-966 pomt1 10585 POMT1 autosomal recessive limb-girdle muscular dystrophy type 2K DOID:0110297 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-966 pomt1 10585 POMT1 congenital muscular dystrophy-dystroglycanopathy type A1 DOID:0111237 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-966 pomt1 10585 POMT1 muscular dystrophy-dystroglycanopathy DOID:0050588 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1002 pomt2 29954 POMT2 autosomal recessive limb-girdle muscular dystrophy type 2N DOID:0110298 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1002 pomt2 29954 POMT2 congenital muscular dystrophy-dystroglycanopathy type A2 DOID:0111240 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1002 pomt2 29954 POMT2 muscular dystrophy-dystroglycanopathy DOID:0050588 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-6 pon1 5444 PON1 {Coronary artery disease, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-6 pon1 5444 PON1 {Coronary artery spasm 2, susceptibility to ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-6 pon1 5444 PON1 {Microvascular complications of diabetes 5} 612633 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-6 pon1 5444 PON1 {Organophosphate poisoning, sensitivity to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7116 pon2 5445 PON2 {Coronary artery disease, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120911-1 pop1 10940 POP1 Anauxetic dysplasia 2 617396 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-121 pora 5447 POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-121 pora 5447 POR Antley-Bixler syndrome DOID:0050462 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5767 porb 5447 POR Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5767 porb 5447 POR Antley-Bixler syndrome DOID:0050462 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-87 porcn 64840 PORCN focal dermal hypoplasia DOID:2120 Focal dermal hypoplasia 305600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110324-1 pot1 25913 POT1 {Glioma susceptibility 9} 616568 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110324-1 pot1 25913 POT1 {Melanoma, cutaneous malignant, susceptibility to, 10} 615848 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040630-7 pou1f1 5449 POU1F1 hypopituitarism DOID:9406 Pituitary hormone deficiency, combined, 1 613038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-24 pou4f3 5459 POU4F3 autosomal dominant nonsyndromic deafness 15 DOID:0110546 Deafness, autosomal dominant 15 602459 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-71 pou6f2 11281 POU6F2 {Wilms tumor susceptibility-5} 601583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1857 ppa2 27068 PPA2 ?Sudden cardiac failure, alcohol-induced 617223 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1857 ppa2 27068 PPA2 Sudden cardiac failure, infantile 617222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-169 pparaa 5465 PPARA {Hyperapobetalipoproteinemia, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-211 pparab 5465 PPARA {Hyperapobetalipoproteinemia, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG Carotid intimal medial thickness 1 609338 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG [Obesity, resistance to] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG familial partial lipodystrophy type 3 DOID:0070204 Insulin resistance, severe, digenic 604367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG familial partial lipodystrophy type 3 DOID:0070204 Lipodystrophy, familial partial, type 3 604367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG obesity DOID:9970 Obesity, severe 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-213 pparg 5468 PPARG type 2 diabetes mellitus DOID:9352 {Diabetes, type 2} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-104 ppcs 79717 PPCS Cardiomyopathy, dilated, 2C 618189 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1955 ppib 5479 PPIB osteogenesis imperfecta type 9 DOID:0110349 Osteogenesis imperfecta, type IX 259440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-125 ppip5k2 23262 PPIP5K2 Deafness, autosomal recessive 100 618422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-815 ppm1da 8493 PPM1D Jansen de Vries syndrome 617450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-815 ppm1da 8493 PPM1D breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-27 ppm1db 8493 PPM1D Jansen de Vries syndrome 617450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-27 ppm1db 8493 PPM1D breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-8 ppm1k 152926 PPM1K maple syrup urine disease DOID:9269 ?Maple syrup urine disease, mild variant 615135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-90 ppox 5498 PPOX variegate porphyria DOID:4346 Porphyria variegata 176200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-609 ppp1cb 5500 PPP1CB Noonan syndrome-like disorder with loose anagen hair 2 617506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6529 ppp1cbl 5500 PPP1CB Noonan syndrome-like disorder with loose anagen hair 2 617506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-40 ppp1r15b 84919 PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2 616817 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110914-122 ppp1r3aa 5506 PPP1R3A type 2 diabetes mellitus DOID:9352 Insulin resistance, severe, digenic 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-246 ppp1r3ab 5506 PPP1R3A type 2 diabetes mellitus DOID:9352 Insulin resistance, severe, digenic 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-441 ppp2ca 5515 PPP2CA Neurodevelopmental disorder and language delay with or without structural brain abnormalities 618354 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2700 ppp2r1ba 5519 PPP2R1B lung cancer DOID:1324 Lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-20 ppp2r1bb 5519 PPP2R1B lung cancer DOID:1324 Lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101026-5 ppp2r2ba 5521 PPP2R2B spinocerebellar ataxia type 12 DOID:0050962 Spinocerebellar ataxia 12 604326 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-39 ppp2r2bb 5521 PPP2R2B spinocerebellar ataxia type 12 DOID:0050962 Spinocerebellar ataxia 12 604326 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-715 ppp2r3c 55012 PPP2R3C Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 618419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-715 ppp2r3c 55012 PPP2R3C Spermatogenic failure 36 618420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2568 ppp2r5d 5528 PPP2R5D autosomal dominant non-syndromic intellectual disability 35 DOID:0070065 Mental retardation, autosomal dominant 35 616355 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-24 ppp3ca 5530 PPP3CA Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 618265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-24 ppp3ca 5530 PPP3CA infantile or early childhood epileptic encephalopathy 1 DOID:0080472 Epileptic encephalopathy, infantile or early childhood, 1 617711 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2653 ppt1 5538 PPT1 neuronal ceroid lipofuscinosis 1 DOID:0110721 Ceroid lipofuscinosis, neuronal, 1 256730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-158 pqbp1 10084 PQBP1 Renpenning syndrome DOID:0060179 Renpenning syndrome 309500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070717-1 prcc 5546 PRCC papillary renal cell carcinoma DOID:4465 Renal cell carcinoma, papillary 605074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080623-1 prdm12a 59335 PRDM12 hereditary sensory and autonomic neuropathy type 8 DOID:0070153 Neuropathy, hereditary sensory and autonomic, type VIII 616488 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-172 prdm12b 59335 PRDM12 hereditary sensory and autonomic neuropathy type 8 DOID:0070153 Neuropathy, hereditary sensory and autonomic, type VIII 616488 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080613-2 prdm16 63976 PRDM16 Cardiomyopathy, dilated, 1LL 615373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080613-2 prdm16 63976 PRDM16 Left ventricular noncompaction 8 615373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040708-1 prdm5 11107 PRDM5 brittle cornea syndrome DOID:14775 Brittle cornea syndrome 2 614170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080618-1 prdm6 93166 PRDM6 Patent ductus arteriosus 3 617039 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2747 prdm8 56978 PRDM8 ?Epilepsy, progressive myoclonic, 10 616640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-174 prdm8b 56978 PRDM8 ?Epilepsy, progressive myoclonic, 10 616640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-35 prdx1 5052 PRDX1 methylmalonic aciduria and homocystinuria type cblC DOID:0050715 Methylmalonic aciduria and homocystinuria, cblC type, digenic 277400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-224 prepl 9581 PREPL congenital myasthenic syndrome 22 DOID:0080587 Myasthenic syndrome, congenital, 22 616224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8295 prg4a 10216 PRG4 camptodactyly-arthropathy-coxa vara-pericarditis syndrome DOID:0090127 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-324 prg4b 10216 PRG4 camptodactyly-arthropathy-coxa vara-pericarditis syndrome DOID:0090127 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030724-5 prickle1a 144165 PRICKLE1 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 1B 612437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2152 prickle1b 144165 PRICKLE1 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 1B 612437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-100 primpol 201973 PRIMPOL myopia DOID:11830 Myopia 22, autosomal dominant 615420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050114-6 prkacaa 5566 PRKACA primary pigmented nodular adrenocortical disease DOID:0060280 Cushing syndrome, ACTH-independent adrenal, somatic 615830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-208 prkacab 5566 PRKACA primary pigmented nodular adrenocortical disease DOID:0060280 Cushing syndrome, ACTH-independent adrenal, somatic 615830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-160 prkag2a 51422 PRKAG2 hypertrophic cardiomyopathy 6 DOID:0110312 Cardiomyopathy, hypertrophic 6 600858 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-160 prkag2a 51422 PRKAG2 lethal congenital glycogen storage disease of heart DOID:0090101 Glycogen storage disease of heart, lethal congenital 261740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-160 prkag2a 51422 PRKAG2 Wolff-Parkinson-White syndrome DOID:384 Wolff-Parkinson-White syndrome 194200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-442 prkag2b 51422 PRKAG2 hypertrophic cardiomyopathy 6 DOID:0110312 Cardiomyopathy, hypertrophic 6 600858 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-442 prkag2b 51422 PRKAG2 lethal congenital glycogen storage disease of heart DOID:0090101 Glycogen storage disease of heart, lethal congenital 261740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-442 prkag2b 51422 PRKAG2 Wolff-Parkinson-White syndrome DOID:384 Wolff-Parkinson-White syndrome 194200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050116-2 prkar1aa 5573 PRKAR1A Adrenocortical tumor, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050116-2 prkar1aa 5573 PRKAR1A Myxoma, intracardiac 255960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050116-2 prkar1aa 5573 PRKAR1A acrodysostosis DOID:14669 Acrodysostosis 1, with or without hormone resistance 101800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050116-2 prkar1aa 5573 PRKAR1A Carney complex DOID:0050471 Carney complex, type 1 160980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050116-2 prkar1aa 5573 PRKAR1A primary pigmented nodular adrenocortical disease DOID:0060280 Pigmented nodular adrenocortical disease, primary, 1 610489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-238 prkar1ab 5573 PRKAR1A Adrenocortical tumor, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-238 prkar1ab 5573 PRKAR1A Myxoma, intracardiac 255960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-238 prkar1ab 5573 PRKAR1A acrodysostosis DOID:14669 Acrodysostosis 1, with or without hormone resistance 101800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-238 prkar1ab 5573 PRKAR1A Carney complex DOID:0050471 Carney complex, type 1 160980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-238 prkar1ab 5573 PRKAR1A primary pigmented nodular adrenocortical disease DOID:0060280 Pigmented nodular adrenocortical disease, primary, 1 610489 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-100 prkcaa 5578 PRKCA Pituitary tumor, invasive ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131121-412 prkcab 5578 PRKCA Pituitary tumor, invasive ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6503 prkcda 5580 PRKCD autoimmune lymphoproliferative syndrome type 3 DOID:0110119 Autoimmune lymphoproliferative syndrome, type III 615559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111129-1 prkcdb 5580 PRKCD autoimmune lymphoproliferative syndrome type 3 DOID:0110119 Autoimmune lymphoproliferative syndrome, type III 615559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090206-1 prkcg 5582 PRKCG spinocerebellar ataxia type 14 DOID:0050964 Spinocerebellar ataxia 14 605361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080402-5 prkcha 5583 PRKCH cerebral infarction DOID:3526 {Cerebral infarction, susceptibility to} 601367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-104 prkchb 5583 PRKCH cerebral infarction DOID:3526 {Cerebral infarction, susceptibility to} 601367 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-770 prkcsh 5589 PRKCSH polycystic liver disease DOID:0050770 Polycystic liver disease 1 174050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080131-1 prkd1 5587 PRKD1 Congenital heart defects and ectodermal dysplasia 617364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9008 prkdc 5591 PRKDC Immunodeficiency 26, with or without neurologic abnormalities 615966 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1308 prkg1a 5592 PRKG1 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 8 615436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080225-40 prkg1b 5592 PRKG1 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 8 615436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140422-2 prkg1l 5592 PRKG1 thoracic aortic aneurysm DOID:14004 Aortic aneurysm, familial thoracic 8 615436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-109 prkn 5071 PRKN lung cancer DOID:1324 Adenocarcinoma of lung, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-109 prkn 5071 PRKN ovarian cancer DOID:2394 Ovarian cancer, somatic 167000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-109 prkn 5071 PRKN Parkinson's disease 2 DOID:0060368 Parkinson disease, juvenile, type 2 600116 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-206 prkra 8575 PRKRA dystonia 16 DOID:0090048 Dystonia 16 612067 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080103-2 prlra 5618 PRLR Hyperprolactinemia 615555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080103-2 prlra 5618 PRLR Multiple fibroadenomas of the breast 615554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-155 prlrb 5618 PRLR Hyperprolactinemia 615555 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-155 prlrb 5618 PRLR Multiple fibroadenomas of the breast 615554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1560 prmt7 54496 PRMT7 Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP {Kuru, susceptibility to} 245300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP Prion disease with protracted course 606688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP Creutzfeldt-Jakob disease DOID:11949 Creutzfeldt-Jakob disease 123400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP fatal familial insomnia DOID:0050433 Insomnia, fatal familial 600072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP Gerstmann-Straussler-Scheinker syndrome DOID:4249 Cerebral amyloid angiopathy, PRNP-related 137440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP Gerstmann-Straussler-Scheinker syndrome DOID:4249 Gerstmann-Straussler disease 137440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041217-6 prnpa 5621 PRNP Huntington's disease-like 1 DOID:0090103 Huntington disease-like 1 603218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060824-5 proca 5624 PROC Thrombophilia due to protein C deficiency, autosomal recessive 612304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060824-5 proca 5624 PROC protein C deficiency DOID:3756 Thrombophilia due to protein C deficiency, autosomal dominant 176860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130820-1 procb 5624 PROC Thrombophilia due to protein C deficiency, autosomal recessive 612304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130820-1 procb 5624 PROC protein C deficiency DOID:3756 Thrombophilia due to protein C deficiency, autosomal dominant 176860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-73 prodha 5625 PRODH hyperprolinemia type 1 DOID:0080542 Hyperprolinemia, type I 239500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-73 prodha 5625 PRODH schizophrenia 4 DOID:0070080 {Schizophrenia, susceptibility to, 4} 600850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101116-1 prodhb 5625 PRODH hyperprolinemia type 1 DOID:0080542 Hyperprolinemia, type I 239500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101116-1 prodhb 5625 PRODH schizophrenia 4 DOID:0070080 {Schizophrenia, susceptibility to, 4} 600850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100726-1 prok2 60675 PROK2 hypogonadotropic hypogonadism 4 with or without anosmia DOID:0090077 Hypogonadotropic hypogonadism 4 with or without anosmia 610628 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1577 prom1a 8842 PROM1 Macular dystrophy, retinal, 2 608051 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1577 prom1a 8842 PROM1 cone-rod dystrophy 12 DOID:0111019 Cone-rod dystrophy 12 612657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1577 prom1a 8842 PROM1 retinitis pigmentosa 41 DOID:0110376 Retinitis pigmentosa 41 612095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1577 prom1a 8842 PROM1 Stargardt disease DOID:0050817 Stargardt disease 4 603786 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031003-1 prom1b 8842 PROM1 Macular dystrophy, retinal, 2 608051 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031003-1 prom1b 8842 PROM1 cone-rod dystrophy 12 DOID:0111019 Cone-rod dystrophy 12 612657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031003-1 prom1b 8842 PROM1 retinitis pigmentosa 41 DOID:0110376 Retinitis pigmentosa 41 612095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031003-1 prom1b 8842 PROM1 Stargardt disease DOID:0050817 Stargardt disease 4 603786 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-40 prop1 5626 PROP1 hypopituitarism DOID:9406 Pituitary hormone deficiency, combined, 2 262600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-657 pros1 5627 PROS1 Thrombophilia due to protein S deficiency, autosomal dominant 612336 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-657 pros1 5627 PROS1 Thrombophilia due to protein S deficiency, autosomal recessive 614514 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-403 proza 8858 PROZ [Protein Z deficiency] 614024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120816-1 prozb 8858 PROZ [Protein Z deficiency] 614024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040823-3 prpf3 9129 PRPF3 retinitis pigmentosa 18 DOID:0110356 Retinitis pigmentosa 18 601414 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1561 prpf31 26121 PRPF31 retinitis pigmentosa 11 DOID:0110408 Retinitis pigmentosa 11 600138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5143 prpf4 9128 PRPF4 retinitis pigmentosa 70 DOID:0110392 Retinitis pigmentosa 70 615922 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2575 prpf6 24148 PRPF6 retinitis pigmentosa 60 DOID:0110411 Retinitis pigmentosa 60 613983 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-577 prpf8 10594 PRPF8 retinitis pigmentosa 13 DOID:0110403 Retinitis pigmentosa 13 600059 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-207 prph 5630 PRPH amyotrophic lateral sclerosis type 1 DOID:0060193 {Amyotrophic lateral sclerosis, susceptibility to} 105400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 fundus albipunctatus DOID:11105 Retinitis punctata albescens 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 partial central choroid dystrophy DOID:9822 Choroidal dystrophy, central areolar 2 613105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 patterned macular dystrophy 1 DOID:0060866 Macular dystrophy, patterned, 1 169150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 retinitis pigmentosa 7 DOID:0110383 Leber congenital amaurosis 18 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 retinitis pigmentosa 7 DOID:0110383 Retinitis pigmentosa 7 and digenic form 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-8 prph2a 5961 PRPH2 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 3 608161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 fundus albipunctatus DOID:11105 Retinitis punctata albescens 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 partial central choroid dystrophy DOID:9822 Choroidal dystrophy, central areolar 2 613105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 patterned macular dystrophy 1 DOID:0060866 Macular dystrophy, patterned, 1 169150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 retinitis pigmentosa 7 DOID:0110383 Leber congenital amaurosis 18 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 retinitis pigmentosa 7 DOID:0110383 Retinitis pigmentosa 7 and digenic form 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000616-9 prph2b 5961 PRPH2 vitelliform macular dystrophy DOID:0050661 Macular dystrophy, vitelliform, 3 608161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-5 prps1a 5631 PRPS1 Arts syndrome DOID:0050647 Arts syndrome 301835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-5 prps1a 5631 PRPS1 Charcot-Marie-Tooth disease X-linked recessive 5 DOID:0110210 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-5 prps1a 5631 PRPS1 phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 Gout, PRPS-related 300661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-5 prps1a 5631 PRPS1 phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 Phosphoribosylpyrophosphate synthetase superactivity 300661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-5 prps1a 5631 PRPS1 X-linked nonsyndromic deafness DOID:0050566 Deafness, X-linked 1 304500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4011 prps1b 5631 PRPS1 Arts syndrome DOID:0050647 Arts syndrome 301835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4011 prps1b 5631 PRPS1 Charcot-Marie-Tooth disease X-linked recessive 5 DOID:0110210 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4011 prps1b 5631 PRPS1 phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 Gout, PRPS-related 300661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4011 prps1b 5631 PRPS1 phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 Phosphoribosylpyrophosphate synthetase superactivity 300661 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4011 prps1b 5631 PRPS1 X-linked nonsyndromic deafness DOID:0050566 Deafness, X-linked 1 304500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121210-3 prrt2 112476 PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121210-3 prrt2 112476 PRRT2 benign familial infantile epilepsy DOID:0060169 Seizures, benign familial infantile, 2 605751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121210-3 prrt2 112476 PRRT2 episodic kinesigenic dyskinesia 1 DOID:0090053 Episodic kinesigenic dyskinesia 1 128200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020905-5 prrx1a 5396 PRRX1 agnathia-otocephaly complex DOID:0060341 Agnathia-otocephaly complex 202650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9033 prrx1b 5396 PRRX1 agnathia-otocephaly complex DOID:0060341 Agnathia-otocephaly complex 202650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010131-7 prss1 5644 PRSS1 Trypsinogen deficiency 614044 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010131-7 prss1 5644 PRSS1 pancreatitis DOID:4989 Pancreatitis, hereditary 167800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-45 prss12 8492 PRSS12 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 1 249500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-579 prss56 646960 PRSS56 isolated microphthalmia 6 DOID:0060835 Microphthalmia, isolated 6 613517 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100609-1 prune 58497 PRUNE1 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 617481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5790 prx 57716 PRX Charcot-Marie-Tooth disease type 3 DOID:0050540 Dejerine-Sottas disease 145900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5790 prx 57716 PRX Charcot-Marie-Tooth disease type 4F DOID:0110193 Charcot-Marie-Tooth disease, type 4F 614895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-1 psap 5660 PSAP Krabbe disease, atypical 611722 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-1 psap 5660 PSAP atypical Gaucher's disease due to saposin c deficiency DOID:0110961 Gaucher disease, atypical 610539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-1 psap 5660 PSAP combined saposin deficiency DOID:0111330 Combined SAP deficiency 611721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-1 psap 5660 PSAP metachromatic leukodystrophy DOID:10581 Metachromatic leukodystrophy due to SAP-b deficiency 249900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5723 psat1 29968 PSAT1 Neu-Laxova syndrome 2 DOID:0080075 Neu-Laxova syndrome 2 616038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5723 psat1 29968 PSAT1 PSAT deficiency DOID:0050723 ?Phosphoserine aminotransferase deficiency 610992 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 Alzheimer's disease 3 DOID:0110042 Alzheimer disease, type 3 607822 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 Alzheimer's disease 3 DOID:0110042 Alzheimer disease, type 3, with spastic paraparesis and apraxia 607822 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 Alzheimer's disease 3 DOID:0110042 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 607822 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 dilated cardiomyopathy 1U DOID:0110455 Cardiomyopathy, dilated, 1U 613694 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 frontotemporal dementia DOID:9255 Dementia, frontotemporal 600274 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 hidradenitis suppurativa DOID:2280 ?Acne inversa, familial, 3 613737 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991119-4 psen1 5663 PSEN1 Pick's disease DOID:11870 Pick disease 172700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000330-9 psen2 5664 PSEN2 Alzheimer's disease 4 DOID:0110040 Alzheimer disease-4 606889 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000330-9 psen2 5664 PSEN2 dilated cardiomyopathy 1V DOID:0110427 Cardiomyopathy, dilated, 1V 613697 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040218-1 psenen 55851 PSENEN hidradenitis suppurativa DOID:2280 Acne inversa, familial, 2, with or without Dowling-Degos disease 613736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020326-1 psma6a 5687 PSMA6 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-329 psma6b 5687 PSMA6 {Myocardial infarction, susceptibility to} 608446 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-333 psmb4 5692 PSMB4 ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms 617591 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-141 psmb8a 5696 PSMB8 Proteasome-associated autoinflammatory syndrome 1 and digenic forms 256040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-140 psmb9a 5698 PSMB9 ?Proteasome-associated autoinflammatory syndrome 3, digenic 617591 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001208-3 psmb9b 5698 PSMB9 ?Proteasome-associated autoinflammatory syndrome 3, digenic 617591 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-125 psmc3ip 29893 PSMC3IP ovarian dysgenesis 3 DOID:0080495 Ovarian dysgenesis 3 614324 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-617 psmd12 5718 PSMD12 Stankiewicz-Isidor syndrome 617516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-127 psph 5723 PSPH PSPH deficiency DOID:0050724 Phosphoserine phosphatase deficiency 614023 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-251 pstpip1a 9051 PSTPIP1 PAPA syndrome DOID:0080519 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-25 pstpip1b 9051 PSTPIP1 PAPA syndrome DOID:0080519 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-196 ptch1 5727 PTCH1 Basal cell carcinoma, somatic 605462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-196 ptch1 5727 PTCH1 holoprosencephaly 7 DOID:0110876 Holoprosencephaly 7 610828 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-196 ptch1 5727 PTCH1 nevoid basal cell carcinoma syndrome DOID:2512 Basal cell nevus syndrome 109400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-44 ptch2 8643 PTCH2 Basal cell carcinoma, somatic 605462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-44 ptch2 8643 PTCH2 medulloblastoma DOID:0050902 Medulloblastoma, somatic 155255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-44 ptch2 8643 PTCH2 nevoid basal cell carcinoma syndrome DOID:2512 Basal cell nevus syndrome 109400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061220-1 ptchd1 139411 PTCHD1 {Autism, susceptibility to, X-linked 4} 300830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-837 ptdss1a 9791 PTDSS1 Lenz-Majewski hyperostotic dwarfism 151050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-18 ptdss1b 9791 PTDSS1 Lenz-Majewski hyperostotic dwarfism 151050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN {Glioma susceptibility 2} 613028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN {Meningioma} 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 Cowden syndrome 1 158350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 Lhermitte-Duclos syndrome 158350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN macrocephaly-autism syndrome DOID:0060867 Macrocephaly/autism syndrome 605309 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3776 ptena 5728 PTEN prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN {Glioma susceptibility 2} 613028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN {Meningioma} 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 Cowden syndrome 1 158350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 Lhermitte-Duclos syndrome 158350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN macrocephaly-autism syndrome DOID:0060867 Macrocephaly/autism syndrome 605309 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-47 ptenb 5728 PTEN prostate cancer DOID:10283 Prostate cancer, somatic 176807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-579 ptf1a 256297 PTF1A Pancreatic agenesis 2 615935 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-579 ptf1a 256297 PTF1A Pancreatic and cerebellar agenesis 609069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1321 ptger2a 5732 PTGER2 {Asthma, aspirin-induced, susceptibility to} 208550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-267 ptger2b 5732 PTGER2 {Asthma, aspirin-induced, susceptibility to} 208550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070116-1 ptgis 5740 PTGIS essential hypertension DOID:10825 Hypertension, essential 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040623-1 pth1a 5741 PTH hypoparathyroidism DOID:11199 Hypoparathyroidism, autosomal dominant 146200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040623-1 pth1a 5741 PTH hypoparathyroidism DOID:11199 Hypoparathyroidism, autosomal recessive 146200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040623-2 pth1b 5741 PTH hypoparathyroidism DOID:11199 Hypoparathyroidism, autosomal dominant 146200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040623-2 pth1b 5741 PTH hypoparathyroidism DOID:11199 Hypoparathyroidism, autosomal recessive 146200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-8 pth1r 5745 PTH1R Eiken syndrome 600002 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-8 pth1r 5745 PTH1R Failure of tooth eruption, primary 125350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-8 pth1r 5745 PTH1R chondrodysplasia Blomstrand type DOID:0060387 Chondrodysplasia, Blomstrand type 215045 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991123-8 pth1r 5745 PTH1R Jansen's metaphyseal chondrodysplasia DOID:0080020 Metaphyseal chondrodysplasia, Murk Jansen type 156400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050119-9 pthlha 5744 PTHLH brachydactyly type E2 DOID:0110976 Brachydactyly, type E2 613382 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-206 pthlhb 5744 PTHLH brachydactyly type E2 DOID:0110976 Brachydactyly, type E2 613382 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980605-23 ptpn1 5770 PTPN1 type 2 diabetes mellitus DOID:9352 {Insulin resistance, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5911 ptpn11a 5781 PTPN11 Metachondromatosis 156250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5911 ptpn11a 5781 PTPN11 juvenile myelomonocytic leukemia DOID:0050458 Leukemia, juvenile myelomonocytic, somatic 607785 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5911 ptpn11a 5781 PTPN11 LEOPARD syndrome 1 DOID:0080548 LEOPARD syndrome 1 151100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5911 ptpn11a 5781 PTPN11 Noonan syndrome 1 DOID:0060578 Noonan syndrome 1 163950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1158 ptpn11b 5781 PTPN11 Metachondromatosis 156250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1158 ptpn11b 5781 PTPN11 juvenile myelomonocytic leukemia DOID:0050458 Leukemia, juvenile myelomonocytic, somatic 607785 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1158 ptpn11b 5781 PTPN11 LEOPARD syndrome 1 DOID:0080548 LEOPARD syndrome 1 151100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1158 ptpn11b 5781 PTPN11 Noonan syndrome 1 DOID:0060578 Noonan syndrome 1 163950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1441 ptpn12 5782 PTPN12 colorectal cancer DOID:9256 Colon cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-458 ptpn22 26191 PTPN22 rheumatoid arthritis DOID:7148 {Rheumatoid arthritis, susceptibility to} 180300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-458 ptpn22 26191 PTPN22 systemic lupus erythematosus DOID:9074 {Systemic lupus erythematosus susceptibility to} 152700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-458 ptpn22 26191 PTPN22 type 1 diabetes mellitus DOID:9744 {Diabetes, type 1, susceptibility to} 222100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-585 ptprc 5788 PTPRC {Hepatitis C virus, susceptibility to} 609532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-585 ptprc 5788 PTPRC severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive DOID:0090014 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 608971 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020107-2 ptprfa 5792 PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2 616001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-530 ptprfb 5792 PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2 616001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101102-24 ptprfl 5792 PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2 616001 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8301 ptprja 5795 PTPRJ colorectal cancer DOID:9256 Colon cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090304-1 ptprjb.1 5795 PTPRJ colorectal cancer DOID:9256 Colon cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131120-137 ptprjb.2 5795 PTPRJ colorectal cancer DOID:9256 Colon cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-54 ptpro 5800 PTPRO nephrotic syndrome type 6 DOID:0080384 Nephrotic syndrome, type 6 614196 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-183 ptprq 374462 PTPRQ autosomal dominant nonsyndromic deafness 73 DOID:0080269 Deafness, autosomal dominant 73 617663 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-183 ptprq 374462 PTPRQ autosomal recessive nonsyndromic deafness 84A DOID:0110529 Deafness, autosomal recessive 84A 613391 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-163 ptrh2 51651 PTRH2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-3 pts 5805 PTS Bh4-deficient hyperphenylalaninemia A DOID:0090106 Hyperphenylalaninemia, BH4-deficient, A 261640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2891 puf60a 22827 PUF60 Verheij syndrome 615583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-116 puf60b 22827 PUF60 Verheij syndrome 615583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2074 pum1 9698 PUM1 Spinocerebellar ataxia 47 617931 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-8 puraa 5813 PURA autosomal dominant non-syndromic intellectual disability 31 DOID:0070061 Mental retardation, autosomal dominant 31 616158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-78 purab 5813 PURA autosomal dominant non-syndromic intellectual disability 31 DOID:0070061 Mental retardation, autosomal dominant 31 616158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-26 pus1 80324 PUS1 myopathy, lactic acidosis, and sideroblastic anemia 1 DOID:0111185 Myopathy, lactic acidosis, and sideroblastic anemia 1 600462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060620-1 pus7 54517 PUS7 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 618342 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140415-2 pxdn 7837 PXDN Anterior segment dysgenesis 7, with sclerocornea 269400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1675 pycr1a 5831 PYCR1 autosomal recessive cutis laxa type IIB DOID:0070137 Cutis laxa, autosomal recessive, type IIB 612940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1675 pycr1a 5831 PYCR1 autosomal recessive cutis laxa type IIIB DOID:0070138 Cutis laxa, autosomal recessive, type IIIB 614438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-26 pycr1b 5831 PYCR1 autosomal recessive cutis laxa type IIB DOID:0070137 Cutis laxa, autosomal recessive, type IIB 612940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-26 pycr1b 5831 PYCR1 autosomal recessive cutis laxa type IIIB DOID:0070138 Cutis laxa, autosomal recessive, type IIIB 614438 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041205-1 pygl 5836 PYGL glycogen storage disease VI DOID:2754 Glycogen storage disease VI 232700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-482 pygma 5837 PYGM glycogen storage disease V DOID:2746 McArdle disease 232600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1206 pygmb 5837 PYGM glycogen storage disease V DOID:2746 McArdle disease 232600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1732 pyroxd1 79912 PYROXD1 myofibrillar myopathy 8 DOID:0080308 Myopathy, myofibrillar, 8 617258 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1011 qars1 5859 QARS1 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 615760 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-197 qdpra 5860 QDPR Hyperphenylalaninemia, BH4-deficient, C 261630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-320 qdprb1 5860 QDPR Hyperphenylalaninemia, BH4-deficient, C 261630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070720-19 qdprb2 5860 QDPR Hyperphenylalaninemia, BH4-deficient, C 261630 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8204 qrich1 54870 QRICH1 Ververi-Brady syndrome 617982 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2860 rab11ba 9230 RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-293 rab11bb 9230 RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3980 rab18a 22931 RAB18 Warburg micro syndrome 3 DOID:0110718 Warburg micro syndrome 3 614222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-185 rab18b 22931 RAB18 Warburg micro syndrome 3 DOID:0110718 Warburg micro syndrome 3 614222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-328 rab23 51715 RAB23 Carpenter syndrome DOID:0060234 Carpenter syndrome 201000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-46 rab27a 5873 RAB27A Griscelli syndrome type 2 DOID:0060833 Griscelli syndrome, type 2 607624 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5122 rab28 9364 RAB28 cone-rod dystrophy 18 DOID:0111024 Cone-rod dystrophy 18 615374 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-122 rab33ba 83452 RAB33B Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia 2 615222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080728-1 rab33bb 83452 RAB33B Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia 2 615222 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-7 rab39ba 116442 RAB39B Waisman syndrome 311510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-7 rab39ba 116442 RAB39B non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 72 300271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-104 rab39bb 116442 RAB39B Waisman syndrome 311510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-104 rab39bb 116442 RAB39B non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 72 300271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061027-53 rab3gap1 22930 RAB3GAP1 Warburg micro syndrome 1 DOID:0110716 Warburg micro syndrome 1 600118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-610 rab3gap2 25782 RAB3GAP2 Martsolf syndrome 212720 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-610 rab3gap2 25782 RAB3GAP2 Warburg micro syndrome 2 DOID:0110717 Warburg micro syndrome 2 614225 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1352 rab7a 7879 RAB7A Charcot-Marie-Tooth disease type 2B DOID:0110159 Charcot-Marie-Tooth disease, type 2B 600882 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5415 rac1a 5879 RAC1 autosomal dominant mental retardation 48 DOID:0080235 Mental retardation, autosomal dominant 48 617751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-45 rac1b 5879 RAC1 autosomal dominant mental retardation 48 DOID:0080235 Mental retardation, autosomal dominant 48 617751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-27 rac2 5880 RAC2 Neutrophil immunodeficiency syndrome 608203 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-994 rad21a 5885 RAD21 ?Mungan syndrome 611376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-994 rad21a 5885 RAD21 Cornelia de Lange syndrome 4 DOID:0080508 Cornelia de Lange syndrome 4 614701 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-223 rad21b 5885 RAD21 ?Mungan syndrome 611376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-223 rad21b 5885 RAD21 Cornelia de Lange syndrome 4 DOID:0080508 Cornelia de Lange syndrome 4 614701 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-110 rad50 10111 RAD50 Nijmegen breakage syndrome-like disorder 613078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2286 rad51 5888 RAD51 Mirror movements 2 614508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2286 rad51 5888 RAD51 breast cancer DOID:1612 {Breast cancer, susceptibility to} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2286 rad51 5888 RAD51 Fanconi anemia complementation group R DOID:0111090 ?Fanconi anemia, complementation group R 617244 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-204 rad51c 5889 RAD51C {Breast-ovarian cancer, familial, susceptibility to, 3} 613399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-204 rad51c 5889 RAD51C Fanconi anemia complementation group O DOID:0111096 Fanconi anemia, complementation group O 613390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2490 rad51d 5892 RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-50 rad54b 25788 RAD54B colorectal cancer DOID:9256 Colon cancer, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-50 rad54b 25788 RAD54B non-Hodgkin lymphoma DOID:0060060 Lymphoma, non-Hodgkin, somatic 605027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-968 rad54l 8438 RAD54L Adenocarcinoma, colonic, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-968 rad54l 8438 RAD54L breast cancer DOID:1612 {Breast cancer, invasive ductal} 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-968 rad54l 8438 RAD54L non-Hodgkin lymphoma DOID:0060060 Lymphoma, non-Hodgkin, somatic 605027 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-41 raf1a 5894 RAF1 dilated cardiomyopathy 1NN DOID:0110432 Cardiomyopathy, dilated, 1NN 615916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-41 raf1a 5894 RAF1 LEOPARD syndrome 2 DOID:0080549 LEOPARD syndrome 2 611554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-41 raf1a 5894 RAF1 Noonan syndrome 5 DOID:0060583 Noonan syndrome 5 611553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090826-2 raf1b 5894 RAF1 dilated cardiomyopathy 1NN DOID:0110432 Cardiomyopathy, dilated, 1NN 615916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090826-2 raf1b 5894 RAF1 LEOPARD syndrome 2 DOID:0080549 LEOPARD syndrome 2 611554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090826-2 raf1b 5894 RAF1 Noonan syndrome 5 DOID:0060583 Noonan syndrome 5 611553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-234 rag1 5896 RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity 609889 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-234 rag1 5896 RAG1 Combined cellular and humoral immune defects with granulomas 233650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-234 rag1 5896 RAG1 Omenn syndrome DOID:0060010 Omenn syndrome 603554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-234 rag1 5896 RAG1 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive DOID:0090013 Severe combined immunodeficiency, B cell-negative 601457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-235 rag2 5897 RAG2 Combined cellular and humoral immune defects with granulomas 233650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-235 rag2 5897 RAG2 Omenn syndrome DOID:0060010 Omenn syndrome 603554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-235 rag2 5897 RAG2 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive DOID:0090013 Severe combined immunodeficiency, B cell-negative 601457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101203-2 rai1 10743 RAI1 Smith-Magenis syndrome DOID:0060768 Smith-Magenis syndrome 182290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101230-2 rap1gds1 5910 RAP1GDS1 Lymphocytic leukemia, acute T-cell ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6959 rapgef2 9693 RAPGEF2 ?Epilepsy, familial adult myoclonic, 7 618075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030313-1 rapsn 5913 RAPSN Fetal akinesia deformation sequence 2 618388 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030313-1 rapsn 5913 RAPSN congenital myasthenic syndrome 11 DOID:0110675 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-284 raraa 5914 RARA acute promyelocytic leukemia DOID:0060318 Leukemia, acute promyelocytic 612376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-72 rarab 5914 RARA acute promyelocytic leukemia DOID:0060318 Leukemia, acute promyelocytic 612376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9014 rars1 5917 RARS1 hypomyelinating leukodystrophy 9 DOID:0060791 Leukodystrophy, hypomyelinating, 9 616140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1244 rars2 57038 RARS2 pontocerebellar hypoplasia type 6 DOID:0060275 Pontocerebellar hypoplasia, type 6 611523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4694 rasa1a 5921 RASA1 Basal cell carcinoma, somatic 605462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4694 rasa1a 5921 RASA1 Capillary malformation-arteriovenous malformation 1 608354 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-50 rasa1b 5921 RASA1 Basal cell carcinoma, somatic 605462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-50 rasa1b 5921 RASA1 Capillary malformation-arteriovenous malformation 1 608354 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091118-124 rasgrp2 10235 RASGRP2 platelet-type bleeding disorder 18 DOID:0111051 ?Bleeding disorder, platelet-type, 18 615888 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040428-1 rb1 5925 RB1 lung small cell carcinoma DOID:5409 Small cell cancer of the lung, somatic 182280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040428-1 rb1 5925 RB1 osteosarcoma DOID:3347 Osteosarcoma, somatic 259500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040428-1 rb1 5925 RB1 retinoblastoma DOID:768 Retinoblastoma 180200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040428-1 rb1 5925 RB1 retinoblastoma DOID:768 Retinoblastoma, trilateral 180200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040428-1 rb1 5925 RB1 urinary bladder cancer DOID:11054 Bladder cancer, somatic 109800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130206-1 rb1cc1 9821 RB1CC1 breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050220-14 rbbp8 5932 RBBP8 Jawad syndrome 251255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050220-14 rbbp8 5932 RBBP8 Pancreatic carcinoma, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050220-14 rbbp8 5932 RBBP8 Seckel syndrome 2 DOID:0070013 Seckel syndrome 2 606744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-3 rbck1 10616 RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency 615895 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-245 rbm10 8241 RBM10 TARP syndrome 311900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-16 rbm12 10137 RBM12 schizophrenia 19 DOID:0080281 {Schizophrenia 19, susceptibility to} 617629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-192 rbm15 64783 RBM15 Megakaryoblastic leukemia, acute 606077 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-256 rbm20 282996 RBM20 dilated cardiomyopathy 1DD DOID:0110447 Cardiomyopathy, dilated, 1DD 613172 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-960 rbm28 55131 RBM28 ?Alopecia, neurologic defects, and endocrinopathy syndrome 612079 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-51 rbm8a 9939 RBM8A thrombocytopenia-absent radius syndrome DOID:14699 Thrombocytopenia-absent radius syndrome 274000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-579 rbmx 27316 RBMX syndromic X-linked intellectual disability Shashi type DOID:0060826 ?Mental retardation, X-linked, syndromic 11, Shashi type 300238 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-132 rbp3 5949 RBP3 retinitis pigmentosa 66 DOID:0110393 ?Retinitis pigmentosa 66 615233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-19 rbp4 5950 RBP4 Microphthalmia, isolated, with coloboma 10 616428 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-19 rbp4 5950 RBP4 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 615147 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031117-1 rbpja 3516 RBPJ Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 3 614814 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070319-1 rbpjb 3516 RBPJ Adams-Oliver syndrome DOID:0060227 Adams-Oliver syndrome 3 614814 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7951 rcbtb1 55213 RCBTB1 Retinal dystrophy with or without extraocular anomalies 617175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-103 rd3 343035 RD3 Leber congenital amaurosis 12 DOID:0110080 Leber congenital amaurosis 12 610612 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-9 rdh12 51109 RDH11 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome 616108 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-9 rdh12 51109 RDH11 Leber congenital amaurosis 13 DOID:0110330 Leber congenital amaurosis 13 612712 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-9 rdh12 145226 RDH12 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome 616108 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-9 rdh12 145226 RDH12 Leber congenital amaurosis 13 DOID:0110330 Leber congenital amaurosis 13 612712 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-411 rdh5 5959 RDH5 fundus albipunctatus DOID:11105 Fundus albipunctatus 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091112-2 recql4 9401 RECQL4 Baller-Gerold syndrome DOID:0050654 Baller-Gerold syndrome 218600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091112-2 recql4 9401 RECQL4 rapadilino syndrome DOID:0050774 RAPADILINO syndrome 266280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091112-2 recql4 9401 RECQL4 Rothmund-Thomson syndrome DOID:2732 Rothmund-Thomson syndrome 268400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-267 reep1 65055 REEP1 distal hereditary motor neuronopathy type 5B DOID:0111205 ?Neuronopathy, distal hereditary motor, type VB 614751 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-267 reep1 65055 REEP1 hereditary spastic paraplegia 31 DOID:0110782 Spastic paraplegia 31, autosomal dominant 610250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-125 reep2 51308 REEP2 hereditary spastic paraplegia 72 DOID:0110817 ?Spastic paraplegia 72, autosomal dominant 615625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050706-125 reep2 51308 REEP2 hereditary spastic paraplegia 72 DOID:0110817 ?Spastic paraplegia 72, autosomal recessive 615625 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-98 reep6 92840 REEP6 retinitis pigmentosa 77 DOID:0080350 Retinitis pigmentosa 77 617304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040825-4 rela 5970 RELA ?Mucocutaneous ulceration, chronic 618287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9531 relb 5971 RELB ?Immunodeficiency 53 617585 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020822-1 reln 5649 RELN familial temporal lobe epilepsy 7 DOID:0060751 {Epilepsy, familial temporal lobe, 7} 616436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020822-1 reln 5649 RELN Norman-Roberts syndrome DOID:0060902 Lissencephaly 2 (Norman-Roberts type) 257320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2361 relt 84957 RELT Amelogenesis imperfecta, type IIIC 618386 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040630-3 ren 5972 REN [Hyperproreninemia] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040630-3 ren 5972 REN Renal tubular dysgenesis 267430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040630-3 ren 5972 REN familial juvenile hyperuricemic nephropathy DOID:0060062 Hyperuricemic nephropathy, familial juvenile 2 613092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9536 reps1 85021 REPS1 ?Neurodegeneration with brain iron accumulation 7 617916 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060718-1 rerea 473 RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070212-3 rereb 473 RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080415-1 rest 5978 REST {Wilms tumor 6, susceptibility to} 616806 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080415-1 rest 5978 REST gingival fibromatosis 5 DOID:0080280 Fibromatosis, gingival, 5 617626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET {Hirschsprung disease, protection against} 142623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET {Hirschsprung disease, susceptibility to, 1} 142623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET congenital central hypoventilation syndrome DOID:0060731 Central hypoventilation syndrome, congenital 209880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET familial medullary thyroid carcinoma DOID:0050547 Medullary thyroid carcinoma 155240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET multiple endocrine neoplasia type 2A DOID:0050430 Multiple endocrine neoplasia IIA 171400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET multiple endocrine neoplasia type 2B DOID:10016 Multiple endocrine neoplasia IIB 162300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-307 ret 5979 RET pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130221-1 retreg1 54463 RETREG1 hereditary sensory and autonomic neuropathy type 2B DOID:0070150 Neuropathy, hereditary sensory and autonomic, type IIB 613115 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-99 rfc1 5981 RFC1 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 614575 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-126 rft1 91869 RFT1 congenital disorder of glycosylation In DOID:0080566 Congenital disorder of glycosylation, type In 612015 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120529-1 rfwd3 55159 RFWD3 ?Fanconi anemia, complementation group W 617784 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070717-3 rfx5 5993 RFX5 MHC class II deficiency DOID:5812 Bare lymphocyte syndrome, type II, complementation group C 209920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070717-3 rfx5 5993 RFX5 MHC class II deficiency DOID:5812 Bare lymphocyte syndrome, type II, complementation group E 209920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-299 rfx6 222546 RFX6 Mitchell-Riley syndrome 615710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-596 rfxank 8625 RFXANK MHC class II deficiency DOID:5812 MHC class II deficiency, complementation group B 209920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-321 rfxap 5994 RFXAP MHC class II deficiency DOID:5812 Bare lymphocyte syndrome, type II, complementation group D 209920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040924-6 rgra 5995 RGR retinitis pigmentosa 44 DOID:0110394 Retinitis pigmentosa 44 613769 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-447 rgrb 5995 RGR retinitis pigmentosa 44 DOID:0110394 Retinitis pigmentosa 44 613769 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7570 rgs5a 8490 RGS5 essential hypertension DOID:10825 [Blood pressure regulation QTL] 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-359 rgs5b 8490 RGS5 essential hypertension DOID:10825 [Blood pressure regulation QTL] 145500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-92 rgs9a 8787 RGS9 bradyopsia DOID:0050335 Bradyopsia 608415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1708 rgs9b 8787 RGS9 bradyopsia DOID:0050335 Bradyopsia 608415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030728-1 rgs9bp 388531 RGS9BP bradyopsia DOID:0050335 Bradyopsia 608415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8229 rhag 6005 RHAG Overhydrated hereditary stomatocytosis 185000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8229 rhag 6005 RHAG Rh deficiency syndrome DOID:0050641 Anemia, hemolytic, Rh-null, regulator type 268150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051213-1 rhd 6007 RHD [Rh-negative blood type] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-271 rho 6010 RHO congenital stationary night blindness autosomal dominant 1 DOID:0110862 Night blindness, congenital stationary, autosomal dominant 1 610445 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-271 rho 6010 RHO fundus albipunctatus DOID:11105 Retinitis punctata albescens 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-271 rho 6010 RHO retinitis pigmentosa 4 DOID:0110372 Retinitis pigmentosa 4, autosomal dominant or recessive 613731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-67 rhobtb2a 23221 RHOBTB2 Epileptic encephalopathy, early infantile, 64 618004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071125-1 rhobtb2b 23221 RHOBTB2 Epileptic encephalopathy, early infantile, 64 618004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060228-7 rhoh 399 RHOH {?Epidermodysplasia verruciformis, susceptibility to, 4} 618307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-135 rims1a 22999 RIMS1 cone-rod dystrophy 7 DOID:0111012 Cone-rod dystrophy 7 603649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101223-4 rims1b 22999 RIMS1 cone-rod dystrophy 7 DOID:0111012 Cone-rod dystrophy 7 603649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-194 rin2 54453 RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis 613075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-132 ripk1l 8737 RIPK1 Immunodeficiency 57 618108 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2042 ripk4 54101 RIPK4 CHAND syndrome 214350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2042 ripk4 54101 RIPK4 popliteal pterygium syndrome DOID:0060055 Popliteal pterygium syndrome, Bartsocas-Papas type 263650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-342 ripor2 9750 RIPOR2 autosomal recessive nonsyndromic deafness 104 DOID:0110465 ?Deafness, autosomal recessive 104 616515 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060113-2 ripply2 134701 RIPPLY2 ?Spondylocostal dysostosis 6 616566 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-329 rit1 6016 RIT1 Noonan syndrome 8 DOID:0060586 Noonan syndrome 8 615355 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1662 rlbp1a 6017 RLBP1 Bothnia retinal dystrophy DOID:0050683 Bothnia retinal dystrophy 607475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1662 rlbp1a 6017 RLBP1 fundus albipunctatus DOID:11105 Fundus albipunctatus 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1662 rlbp1a 6017 RLBP1 fundus albipunctatus DOID:11105 Retinitis punctata albescens 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1662 rlbp1a 6017 RLBP1 Newfoundland cone-rod dystrophy DOID:0111015 Newfoundland rod-cone dystrophy 607476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1870 rlbp1b 6017 RLBP1 Bothnia retinal dystrophy DOID:0050683 Bothnia retinal dystrophy 607475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1870 rlbp1b 6017 RLBP1 fundus albipunctatus DOID:11105 Fundus albipunctatus 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1870 rlbp1b 6017 RLBP1 fundus albipunctatus DOID:11105 Retinitis punctata albescens 136880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1870 rlbp1b 6017 RLBP1 Newfoundland cone-rod dystrophy DOID:0111015 Newfoundland rod-cone dystrophy 607476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120809-2 rlim 51132 RLIM Tonne-Kalscheuer syndrome 300978 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-21 rmnd1 55005 RMND1 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 11 614922 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-407 rnaseh1 246243 RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 616479 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-976 rnaseh2a 10535 RNASEH2A Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 4 610333 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1090 rnaseh2b 79621 RNASEH2B Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 2 610181 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2469 rnaseh2c 84153 RNASEH2C Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 3 610329 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2513 rnaset2 8635 RNASET2 Leukoencephalopathy, cystic, without megalencephaly 612951 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040825-1 rnf113a 7737 RNF113A ?Trichothiodystrophy 5, nonphotosensitive 300953 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-174 rnf125 54941 RNF125 Tenorio syndrome 616260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-772 rnf13 11342 RNF13 Epileptic encephalopathy, early infantile, 73 618379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080401-4 rnf139 11236 RNF139 nonpapillary renal cell carcinoma DOID:0050387 Renal cell carcinoma 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6013 rnf168 165918 RNF168 RIDDLE syndrome DOID:0090113 RIDDLE syndrome 611943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2572 rnf170 81790 RNF170 autosomal dominant sensory ataxia 1 DOID:0111170 Ataxia, sensory, 1, autosomal dominant 608984 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110208-6 rnf212 285498 RNF212 Recombination rate QTL 1 612042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050302-100 rnf213a 57674 RNF213 Moyamoya disease DOID:13099 {Moyamoya disease 2, susceptibility to} 607151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110822-1 rnf213b 57674 RNF213 Moyamoya disease DOID:13099 {Moyamoya disease 2, susceptibility to} 607151 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-199 rnf216 54476 RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism 212840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161021-2 rnf43 54894 RNF43 Sessile serrated polyposis cancer syndrome 617108 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100209-1 rnf6 6049 RNF6 esophageal cancer DOID:5041 Esophageal carcinoma, somatic 133239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-35 rnpc3 55599 RNPC3 ?Growth hormone deficiency, isolated, type V 618160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001019-1 robo2 6092 ROBO2 vesicoureteral reflux DOID:9620 Vesicoureteral reflux 2 610878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000209-4 robo3 64221 ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020809-1 robo4 54538 ROBO4 Aortic valve disease 8 618496 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7582 rogdi 79641 ROGDI Kohlschutter-Tonz syndrome 226750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1765 rom1a 6094 ROM1 retinitis pigmentosa 7 DOID:0110383 Retinitis pigmentosa 7, digenic form 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1073 rom1b 6094 ROM1 retinitis pigmentosa 7 DOID:0110383 Retinitis pigmentosa 7, digenic form 608133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6104 ror1 4919 ROR1 autosomal recessive nonsyndromic deafness 108 DOID:0080263 ?Deafness, autosomal recessive 108 617654 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060427-5 ror2 4920 ROR2 autosomal recessive Robinow syndrome DOID:0060764 Robinow syndrome, autosomal recessive 268310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060427-5 ror2 4920 ROR2 brachydactyly type B1 DOID:0110969 Brachydactyly, type B1 113000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060306-2 roraa 6095 RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 618060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-855 rorab 6095 RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 618060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061204-2 rorb 6096 RORB idiopathic generalized epilepsy 15 DOID:0111316 {Epilepsy, idiopathic generalized, susceptibility to, 15} 618357 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-42 rorc 6097 RORC Immunodeficiency 42 616622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-250 rorca 6097 RORC Immunodeficiency 42 616622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-215 rorcb 6097 RORC Immunodeficiency 42 616622 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-612 rp1 6101 RP1 retinitis pigmentosa 1 DOID:0110390 Retinitis pigmentosa 1 180100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120711-1 rp1l1a 94137 RP1L1 occult macular dystrophy DOID:0050578 Occult macular dystrophy 613587 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-67 rp1l1b 94137 RP1L1 occult macular dystrophy DOID:0050578 Occult macular dystrophy 613587 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2795 rp2 6102 RP2 retinitis pigmentosa 2 DOID:0110415 Retinitis pigmentosa 2 312600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-42 rp9 6100 RP9 retinitis pigmentosa 9 DOID:0110387 ?Retinitis pigmentosa 9 180104 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1717 rpe65a 6121 RPE65 Leber congenital amaurosis 2 DOID:0110016 Leber congenital amaurosis 2 204100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1717 rpe65a 6121 RPE65 retinitis pigmentosa 20 DOID:0110353 Retinitis pigmentosa 20 613794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-16 rpe65b 6121 RPE65 Leber congenital amaurosis 2 DOID:0110016 Leber congenital amaurosis 2 204100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050410-16 rpe65b 6121 RPE65 retinitis pigmentosa 20 DOID:0110353 Retinitis pigmentosa 20 613794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-423 rpgra 6103 RPGR Macular degeneration, X-linked atrophic 300834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-423 rpgra 6103 RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-423 rpgra 6103 RPGR retinitis pigmentosa 3 DOID:0110414 Retinitis pigmentosa 3 300029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-423 rpgra 6103 RPGR X-linked cone-rod dystrophy 1 DOID:0111008 Cone-rod dystrophy, X-linked, 1 304020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-2 rpgrb 6103 RPGR Macular degeneration, X-linked atrophic 300834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-2 rpgrb 6103 RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-2 rpgrb 6103 RPGR retinitis pigmentosa 3 DOID:0110414 Retinitis pigmentosa 3 300029 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081015-2 rpgrb 6103 RPGR X-linked cone-rod dystrophy 1 DOID:0111008 Cone-rod dystrophy, X-linked, 1 304020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-394 rpgrip1 57096 RPGRIP1 cone-rod dystrophy 13 DOID:0111016 Cone-rod dystrophy 13 608194 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-394 rpgrip1 57096 RPGRIP1 Leber congenital amaurosis 6 DOID:0110329 Leber congenital amaurosis 6 613826 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-81 rpgrip1l 23322 RPGRIP1L COACH syndrome 216360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-81 rpgrip1l 23322 RPGRIP1L Joubert syndrome 7 DOID:0111002 Joubert syndrome 7 611560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-81 rpgrip1l 23322 RPGRIP1L Meckel syndrome 5 DOID:0070119 Meckel syndrome 5 611561 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-24 rpia 22934 RPIA Ribose 5-phosphate isomerase deficiency 608611 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8656 rpl10 6134 RPL10 {Autism, susceptibility to, X-linked 5} 300847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8656 rpl10 6134 RPL10 syndromic X-linked mental retardation 35 DOID:0080241 Mental retardation, X-linked, syndromic, 35 300998 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-147 rpl11 6135 RPL11 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 7 612562 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-183 rpl15 6138 RPL15 Diamond-Blackfan anemia DOID:1339 ?Diamond-Blackfan anemia 12 615550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-165 rpl18 6141 RPL18 ?Diamond-Blackfan anemia 18 618310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8512 rpl21 6144 RPL21 hypotrichosis 12 DOID:0110709 Hypotrichosis 12 615885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2117 rpl26 6154 RPL26 Diamond-Blackfan anemia DOID:1339 ?Diamond-Blackfan anemia 11 614900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4343 rpl27 6155 RPL27 ?Diamond-Blackfan anemia 16 617408 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-2 rpl35 11224 RPL35 ?Diamond-Blackfan anemia 19 618312 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-190 rpl35a 6165 RPL35A Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 5 612528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5161 rpl5a 6125 RPL5 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 6 612561 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-93 rpl5b 6125 RPL5 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 6 612561 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1481 rps10 6204 RPS10 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 9 613308 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8631 rps14 6208 RPS14 chromosome 5q deletion syndrome DOID:0090016 Macrocytic anemia, refractory, due to 5q deletion, somatic 153550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8708 rps15a 6210 RPS15A ?Diamond-Blackfan anemia 20 618313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1852 rps17 6218 RPS17 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 4 612527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1716 rps19 6223 RPS19 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 1 105650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080220-50 rps23 6228 RPS23 Brachycephaly, trichomegaly, and developmental delay 617412 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040109-5 rps24 6229 RPS24 Diamond-Blackfan anemia DOID:1339 Diamond-blackfan anemia 3 610629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8606 rps26 6231 RPS26 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 10 613309 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-549 rps27.1 6232 RPS27 ?Diamond-Blackfan anemia 17 617409 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1735 rps27.2 6232 RPS27 ?Diamond-Blackfan anemia 17 617409 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2022 rps28 6234 RPS28 Diamond Blackfan anemia 15 with mandibulofacial dysostosis 606164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040622-5 rps29 6235 RPS29 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 13 615909 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-119 rps6ka3a 6197 RPS6KA3 Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome 303600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030219-119 rps6ka3a 6197 RPS6KA3 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 19 300844 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-74 rps6ka3b 6197 RPS6KA3 Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome 303600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-74 rps6ka3b 6197 RPS6KA3 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 19 300844 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1718 rps7 6201 RPS7 Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia 8 612563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-811 rpsa 3921 RPSA Asplenia, isolated congenital 271400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-352 rras2 22800 RRAS2 Ovarian carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-614 rrm2b 50484 RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-614 rrm2b 50484 RRM2B mitochondrial DNA depletion syndrome 8a DOID:0080127 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-614 rrm2b 50484 RRM2B mitochondrial DNA depletion syndrome 8a DOID:0080127 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-614 rrm2b 50484 RRM2B mitochondrial DNA depletion syndrome 8b DOID:0070331 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-614 rrm2b 50484 RRM2B mitochondrial DNA depletion syndrome 8b DOID:0070331 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-171 rs1a 6247 RS1 X-linked juvenile retinoschisis 1 DOID:0060763 Retinoschisis 312700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-96 rs1b 6247 RS1 X-linked juvenile retinoschisis 1 DOID:0060763 Retinoschisis 312700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-22 rsph1 89765 RSPH1 primary ciliary dyskinesia 24 DOID:0110628 Ciliary dyskinesia, primary, 24 615481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-173 rsph3 83861 RSPH3 primary ciliary dyskinesia 32 DOID:0110603 Ciliary dyskinesia, primary, 32 616481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7437 rsph4a 345895 RSPH4A primary ciliary dyskinesia 11 DOID:0110602 Ciliary dyskinesia, primary, 11 612649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-129 rsph9 221421 RSPH9 primary ciliary dyskinesia 12 DOID:0110601 Ciliary dyskinesia, primary, 12 612650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-44 rspo1 284654 RSPO1 Palmoplantar hyperkeratosis and true hermaphroditism 610644 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-44 rspo1 284654 RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-667 rspo2 340419 RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency 618022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-667 rspo2 340419 RSPO2 Tetraamelia syndrome 2 618021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110103-2 rspo4 343637 RSPO4 nonsyndromic congenital nail disorder 4 DOID:0080082 Anonychia congenita 206800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061026-2 rspry1 89970 RSPRY1 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 616723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2374 rsrc1 51319 RSRC1 Intellectual developmental disorder, autosomal recessive 70 618402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-11 rtel1 51750 RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-11 rtel1 51750 RTEL1 autosomal recessive dyskeratosis congenita 5 DOID:0070022 Dyskeratosis congenita, autosomal dominant 4 615190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-11 rtel1 51750 RTEL1 autosomal recessive dyskeratosis congenita 5 DOID:0070022 Dyskeratosis congenita, autosomal recessive 5 615190 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060420-1 rtn2a 6253 RTN2 hereditary spastic paraplegia 12 DOID:0110765 Spastic paraplegia 12, autosomal dominant 604805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060331-95 rtn2b 6253 RTN2 hereditary spastic paraplegia 12 DOID:0110765 Spastic paraplegia 12, autosomal dominant 604805 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1314 rtn4ip1 84816 RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040310-1 rtn4r 65078 RTN4R schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090609-5 rttn 25914 RTTN Microcephaly, short stature, and polymicrogyria with seizures 614833 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-142 rubcn 9711 RUBCN autosomal recessive spinocerebellar ataxia 15 DOID:0080057 ?Spinocerebellar ataxia, autosomal recessive 15 615705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000605-1 runx1 861 RUNX1 Platelet disorder, familial, with associated myeloid malignancy 601399 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000605-1 runx1 861 RUNX1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-3 runx2a 860 RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-3 runx2a 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-3 runx2a 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-3 runx2a 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-4 runx2b 860 RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-4 runx2b 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-4 runx2b 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-4 runx2b 860 RUNX2 cleidocranial dysplasia DOID:13994 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-131 rusc2 9853 RUSC2 autosomal recessive mental retardation 61 DOID:0080239 Mental retardation, autosomal recessive 61 617773 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-236 rx1 30062 RAX isolated microphthalmia 3 DOID:0060842 Microphthalmia, isolated 3 611038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-237 rx2 30062 RAX isolated microphthalmia 3 DOID:0060842 Microphthalmia, isolated 3 611038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-238 rx3 30062 RAX isolated microphthalmia 3 DOID:0060842 Microphthalmia, isolated 3 611038 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1018 rxylt1 10329 RXYLT1 congenital muscular dystrophy-dystroglycanopathy type A10 DOID:0111239 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-2 ryr1a 6261 RYR1 King-Denborough syndrome 145600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-2 ryr1a 6261 RYR1 {Malignant hyperthermia susceptibility 1} 145600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-2 ryr1a 6261 RYR1 Minicore myopathy with external ophthalmoplegia 255320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-2 ryr1a 6261 RYR1 central core myopathy DOID:3529 Central core disease 117000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020108-2 ryr1a 6261 RYR1 central core myopathy DOID:3529 Neuromuscular disease, congenital, with uniform type 1 fiber 117000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-417 ryr1b 6261 RYR1 King-Denborough syndrome 145600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-417 ryr1b 6261 RYR1 {Malignant hyperthermia susceptibility 1} 145600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-417 ryr1b 6261 RYR1 Minicore myopathy with external ophthalmoplegia 255320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-417 ryr1b 6261 RYR1 central core myopathy DOID:3529 Central core disease 117000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-417 ryr1b 6261 RYR1 central core myopathy DOID:3529 Neuromuscular disease, congenital, with uniform type 1 fiber 117000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071001-1 ryr2a 6262 RYR2 arrhythmogenic right ventricular dysplasia 2 DOID:0110071 Arrhythmogenic right ventricular dysplasia 2 600996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071001-1 ryr2a 6262 RYR2 catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061226-3 ryr2b 6262 RYR2 arrhythmogenic right ventricular dysplasia 2 DOID:0110071 Arrhythmogenic right ventricular dysplasia 2 600996 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061226-3 ryr2b 6262 RYR2 catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020123-2 s1pr2 9294 S1PR2 autosomal recessive nonsyndromic deafness 68 DOID:0110519 Deafness, autosomal recessive 68 610419 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-146 sacs 26278 SACS Charlevoix-Saguenay spastic ataxia DOID:0050946 Spastic ataxia, Charlevoix-Saguenay type 270550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-98 sagb 6295 SAG Oguchi disease-1 DOID:0110712 Oguchi disease-1 258100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-98 sagb 6295 SAG retinitis pigmentosa 47 DOID:0110369 Retinitis pigmentosa 47 613758 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020228-2 sall1a 6299 SALL1 Townes-Brocks syndrome DOID:0050887 Townes-Brocks branchiootorenal-like syndrome 107480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020228-2 sall1a 6299 SALL1 Townes-Brocks syndrome DOID:0050887 Townes-Brocks syndrome 1 107480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020228-3 sall1b 6299 SALL1 Townes-Brocks syndrome DOID:0050887 Townes-Brocks branchiootorenal-like syndrome 107480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020228-3 sall1b 6299 SALL1 Townes-Brocks syndrome DOID:0050887 Townes-Brocks syndrome 1 107480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030829-32 sall2 6297 SALL2 coloboma DOID:12270 ?Coloboma, ocular, autosomal recessive 216820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060328-2 sall4 57167 SALL4 IVIC syndrome 147750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060328-2 sall4 57167 SALL4 Duane-radial ray syndrome DOID:0060747 Duane-radial ray syndrome 607323 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-192 samd12 401474 SAMD12 Epilepsy, familial adult myoclonic, 1 601068 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-386 samhd1 25939 SAMHD1 Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome 5 612952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-386 samhd1 25939 SAMHD1 Chilblain lupus DOID:0060386 ?Chilblain lupus 2 614415 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1958 sar1b 51128 SAR1B chylomicron retention disease DOID:0060357 Chylomicron retention disease 246700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-996 sardh 1757 SARDH [Sarcosinemia] 268900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040831-1 sars1 6301 SARS1 ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures 617709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1616 sars2 54938 SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9960 sash1a 23328 SASH1 ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 618373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9960 sash1a 23328 SASH1 dyschromatosis universalis hereditaria DOID:0060304 Dyschromatosis universalis hereditaria 1 127500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110228-1 sash1b 23328 SASH1 ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 618373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110228-1 sash1b 23328 SASH1 dyschromatosis universalis hereditaria DOID:0060304 Dyschromatosis universalis hereditaria 1 127500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2784 sass6 163786 SASS6 primary autosomal recessive microcephaly 14 DOID:0070279 ?Microcephaly 14, primary, autosomal recessive 616402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-212 satb2 23314 SATB2 chromosome 2q32-q33 deletion syndrome DOID:0060428 Glass syndrome 612313 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1116 sbds 51119 SBDS aplastic anemia DOID:12449 {Aplastic anemia, susceptibility to} 609135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1116 sbds 51119 SBDS Shwachman-Diamond syndrome DOID:0060479 Shwachman-Diamond syndrome 260400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-139 sbf1 6305 SBF1 Charcot-Marie-Tooth disease type 4B3 DOID:0110194 Charcot-Marie-Tooth disease, type 4B3 615284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030911-10 sbf2 81846 SBF2 Charcot-Marie-Tooth disease type 4B2 DOID:0110190 Charcot-Marie-Tooth disease, type 4B2 604563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-56 sc5d 6309 SC5D Lathosterolosis 607330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060303-5 scaper 49855 SCAPER Intellectual developmental disorder and retinitis pigmentosa 618195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031126-1 scarb1 949 SCARB1 [High density lipoprotein cholesterol level QTL6] 610762 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-29 scarb2a 950 SCARB2 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 4, with or without renal failure 254900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5789 scarb2c 950 SCARB2 progressive myoclonus epilepsy DOID:891 Epilepsy, progressive myoclonic 4, with or without renal failure 254900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101117-2 scarf2 91179 SCARF2 Van den Ende-Gupta syndrome 600920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B Brugada syndrome 5 DOID:0110222 Brugada syndrome 5 612838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B Brugada syndrome 5 DOID:0110222 Cardiac conduction defect, nonspecific 612838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B early infantile epileptic encephalopathy 52 DOID:0080455 Epileptic encephalopathy, early infantile, 52 617350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 13 615377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B generalized epilepsy with febrile seizures plus DOID:0060170 Epilepsy, generalized, with febrile seizures plus, type 1 604233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-604 scn1ba 6324 SCN1B generalized epilepsy with febrile seizures plus 1 DOID:0111302 Epilepsy, generalized, with febrile seizures plus, type 1 604233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B Brugada syndrome 5 DOID:0110222 Brugada syndrome 5 612838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B Brugada syndrome 5 DOID:0110222 Cardiac conduction defect, nonspecific 612838 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B early infantile epileptic encephalopathy 52 DOID:0080455 Epileptic encephalopathy, early infantile, 52 617350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 13 615377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B generalized epilepsy with febrile seizures plus DOID:0060170 Epilepsy, generalized, with febrile seizures plus, type 1 604233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090408-1 scn1bb 6324 SCN1B generalized epilepsy with febrile seizures plus 1 DOID:0111302 Epilepsy, generalized, with febrile seizures plus, type 1 604233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A Dravet syndrome DOID:0080422 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A familial hemiplegic migraine 3 DOID:0111183 Migraine, familial hemiplegic, 3 609634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A generalized epilepsy with febrile seizures plus DOID:0060170 Epilepsy, generalized, with febrile seizures plus, type 2 604403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A generalized epilepsy with febrile seizures plus DOID:0060170 Febrile seizures, familial, 3A 604403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A generalized epilepsy with febrile seizures plus 2 DOID:0111294 Epilepsy, generalized, with febrile seizures plus, type 2 604403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-751 scn1laa 6323 SCN1A generalized epilepsy with febrile seizures plus 2 DOID:0111294 Febrile seizures, familial, 3A 604403 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070920-1 scn2b 6327 SCN2B familial atrial fibrillation DOID:0050650 Atrial fibrillation, familial, 14 615378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070920-2 scn3b 55800 SCN3B Brugada syndrome 7 DOID:0110224 Atrial fibrillation, familial, 16 613120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070920-2 scn3b 55800 SCN3B Brugada syndrome 7 DOID:0110224 Brugada syndrome 7 613120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-2 scn4aa 6329 SCN4A Myotonia congenita, atypical, acetazolamide-responsive 608390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-2 scn4aa 6329 SCN4A Paramyotonia congenita 168300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-2 scn4aa 6329 SCN4A congenital myasthenic syndrome 16 DOID:0110682 Myasthenic syndrome, congenital, 16 614198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-2 scn4aa 6329 SCN4A hyperkalemic periodic paralysis DOID:14451 Hyperkalemic periodic paralysis, type 2 170500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-2 scn4aa 6329 SCN4A hypokalemic periodic paralysis DOID:14452 Hypokalemic periodic paralysis, type 2 613345 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-1 scn4ab 6329 SCN4A Myotonia congenita, atypical, acetazolamide-responsive 608390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-1 scn4ab 6329 SCN4A Paramyotonia congenita 168300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-1 scn4ab 6329 SCN4A congenital myasthenic syndrome 16 DOID:0110682 Myasthenic syndrome, congenital, 16 614198 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-1 scn4ab 6329 SCN4A hyperkalemic periodic paralysis DOID:14451 Hyperkalemic periodic paralysis, type 2 170500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051201-1 scn4ab 6329 SCN4A hypokalemic periodic paralysis DOID:14452 Hypokalemic periodic paralysis, type 2 613345 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-18 scn4ba 6330 SCN4B long QT syndrome 10 DOID:0110651 Atrial fibrillation, familial, 17 611819 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070615-18 scn4ba 6330 SCN4B long QT syndrome 10 DOID:0110651 Long QT syndrome-10 611819 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031116-71 scn4bb 6330 SCN4B long QT syndrome 10 DOID:0110651 Atrial fibrillation, familial, 17 611819 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031116-71 scn4bb 6330 SCN4B long QT syndrome 10 DOID:0110651 Long QT syndrome-10 611819 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000828-1 scn8aa 6334 SCN8A Cognitive impairment with or without cerebellar ataxia 614306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000828-1 scn8aa 6334 SCN8A ?Myoclonus, familial, 2 618364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000828-1 scn8aa 6334 SCN8A Seizures, benign familial infantile, 5 617080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000828-1 scn8aa 6334 SCN8A early infantile epileptic encephalopathy 13 DOID:0080445 Epileptic encephalopathy, early infantile, 13 614558 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-2 scn8ab 6334 SCN8A Cognitive impairment with or without cerebellar ataxia 614306 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-2 scn8ab 6334 SCN8A ?Myoclonus, familial, 2 618364 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-2 scn8ab 6334 SCN8A Seizures, benign familial infantile, 5 617080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060906-2 scn8ab 6334 SCN8A early infantile epileptic encephalopathy 13 DOID:0080445 Epileptic encephalopathy, early infantile, 13 614558 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140909-1 sco1 6341 SCO1 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-173 sco2 9997 SCO2 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 DOID:0080357 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-173 sco2 9997 SCO2 myopia DOID:11830 Myopia 6 608908 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1846 scp2a 6342 SCP2 ?Leukoencephalopathy with dystonia and motor neuropathy 613724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-196 scp2b 6342 SCP2 ?Leukoencephalopathy with dystonia and motor neuropathy 613724 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8915 scyl1 57410 SCYL1 autosomal recessive spinocerebellar ataxia 21 DOID:0111155 Spinocerebellar ataxia, autosomal recessive 21 616719 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9021 sdc3 9672 SDC3 obesity DOID:9970 {Obesity, association with} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-318 sdccag8 10806 SDCCAG8 Bardet-Biedl syndrome 16 DOID:0110138 Bardet-Biedl syndrome 16 615993 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-318 sdccag8 10806 SDCCAG8 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome 7 613615 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-874 sdha 6389 SDHA dilated cardiomyopathy 1GG DOID:0110435 Cardiomyopathy, dilated, 1GG 613642 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-874 sdha 6389 SDHA Leigh disease DOID:3652 Leigh syndrome 256000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-874 sdha 6389 SDHA mitochondrial complex II deficiency DOID:0060537 Mitochondrial respiratory chain complex II deficiency 252011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-874 sdha 6389 SDHA paraganglioma DOID:0050773 Paragangliomas 5 614165 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-56 sdhaf1 644096 SDHAF1 mitochondrial complex II deficiency DOID:0060537 Mitochondrial complex II deficiency 252011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7564 sdhaf2 54949 SDHAF2 paraganglioma DOID:0050773 Paragangliomas 2 601650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8005 sdhb 6390 SDHB Carney-Stratakis syndrome DOID:0080533 Paraganglioma and gastric stromal sarcoma 606864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8005 sdhb 6390 SDHB gastrointestinal stromal tumor DOID:9253 Gastrointestinal stromal tumor 606764 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8005 sdhb 6390 SDHB paraganglioma DOID:0050773 Paragangliomas 4 115310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8005 sdhb 6390 SDHB pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-26 sdhc 6391 SDHC Carney-Stratakis syndrome DOID:0080533 Paraganglioma and gastric stromal sarcoma 606864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-26 sdhc 6391 SDHC gastrointestinal stromal tumor DOID:9253 Gastrointestinal stromal tumor 606764 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-26 sdhc 6391 SDHC paraganglioma DOID:0050773 Paragangliomas 3 605373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-192 sdhda 6392 SDHD Carney-Stratakis syndrome DOID:0080533 Paraganglioma and gastric stromal sarcoma 606864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-192 sdhda 6392 SDHD mitochondrial complex II deficiency DOID:0060537 Mitochondrial complex II deficiency 252011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-192 sdhda 6392 SDHD paraganglioma DOID:0050773 Paragangliomas 1, with or without deafness 168000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-192 sdhda 6392 SDHD pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-17 sdhdb 6392 SDHD Carney-Stratakis syndrome DOID:0080533 Paraganglioma and gastric stromal sarcoma 606864 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-17 sdhdb 6392 SDHD mitochondrial complex II deficiency DOID:0060537 Mitochondrial complex II deficiency 252011 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-17 sdhdb 6392 SDHD paraganglioma DOID:0050773 Paragangliomas 1, with or without deafness 168000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040822-17 sdhdb 6392 SDHD pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2823 sec23a 10484 SEC23A craniolenticulosutural dysplasia DOID:0070307 Craniolenticulosutural dysplasia 607812 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5479 sec23b 10483 SEC23B ?Cowden syndrome 7 616858 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5479 sec23b 10483 SEC23B congenital dyserythropoietic anemia DOID:1338 Dyserythropoietic anemia, congenital, type II 224100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070117-2501 sec24d 9871 SEC24D Cole-Carpenter syndrome DOID:0060438 Cole-Carpenter syndrome 2 616294 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020418-2 sec61a1 29927 SEC61A1 Hyperuricemic nephropathy, familial juvenile, 4 617056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021016-2 sec61a1l 29927 SEC61A1 Hyperuricemic nephropathy, familial juvenile, 4 617056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-328 sec63 11231 SEC63 Polycystic liver disease 2 617004 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-263 secisbp2 79048 SECISBP2 Thyroid hormone metabolism, abnormal 609698 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1436 selenbp1 8991 SELENBP1 Extraoral halitosis due to MTO deficiency 618148 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030327-7 selenon 57190 SELENON congenital fiber-type disproportion DOID:0080102 Myopathy, congenital, with fiber-type disproportion 255310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030327-7 selenon 57190 SELENON rigid spine muscular dystrophy 1 DOID:0110633 Muscular dystrophy, rigid spine, 1 602771 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991209-3 sema3aa 10371 SEMA3A hypogonadotropic hypogonadism 16 with or without anosmia DOID:0090080 {Hypogonadotropic hypogonadism 16 with or without anosmia} 614897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991209-6 sema3ab 10371 SEMA3A hypogonadotropic hypogonadism 16 with or without anosmia DOID:0090080 {Hypogonadotropic hypogonadism 16 with or without anosmia} 614897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7864 sema3e 9723 SEMA3E CHARGE syndrome DOID:0050834 ?CHARGE syndrome 214800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-86 sema4aa 64218 SEMA4A cone-rod dystrophy 10 DOID:0111017 Cone-rod dystrophy 10 610283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-86 sema4aa 64218 SEMA4A retinitis pigmentosa 35 DOID:0110357 Retinitis pigmentosa 35 610282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-363 sema4ab 64218 SEMA4A cone-rod dystrophy 10 DOID:0111017 Cone-rod dystrophy 10 610283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-363 sema4ab 64218 SEMA4A retinitis pigmentosa 35 DOID:0110357 Retinitis pigmentosa 35 610282 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3633 sema7a 8482 SEMA7A [Blood group, John-Milton-Hagen system] 614745 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-859 sepsecs 51091 SEPSECS pontocerebellar hypoplasia type 2D DOID:0060270 Pontocerebellar hypoplasia type 2D 613811 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-68 sept12 124404 SEPTIN12 spermatogenic failure 10 DOID:0070178 Spermatogenic failure 10 614822 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9187 sept9a 10801 SEPTIN9 Leukemia, acute myeloid, therapy-related ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9187 sept9a 10801 SEPTIN9 Ovarian carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9187 sept9a 10801 SEPTIN9 amyotrophic neuralgia DOID:10383 Amyotrophy, hereditary neuralgic 162100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-17 sept9b 10801 SEPTIN9 Leukemia, acute myeloid, therapy-related ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-17 sept9b 10801 SEPTIN9 Ovarian carcinoma ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-17 sept9b 10801 SEPTIN9 amyotrophic neuralgia DOID:10383 Amyotrophy, hereditary neuralgic 162100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040616-1 serac1 84947 SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 614739 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1421 serpina1 5265 SERPINA1 alpha 1-antitrypsin deficiency DOID:13372 Emphysema-cirrhosis, due to AAT deficiency 613490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1421 serpina1 5265 SERPINA1 alpha 1-antitrypsin deficiency DOID:13372 Emphysema due to AAT deficiency 613490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1421 serpina1 5265 SERPINA1 alpha 1-antitrypsin deficiency DOID:13372 Hemorrhagic diathesis due to antithrombin Pittsburgh 613490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1421 serpina1 5265 SERPINA1 chronic obstructive pulmonary disease DOID:3083 {Pulmonary disease, chronic obstructive, susceptibility to} 606963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-47 serpina7 6906 SERPINA7 [Thyroxine-binding globulin QTL] 300932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-264 serpinc1 462 SERPINC1 antithrombin III deficiency DOID:3755 Thrombophilia due to antithrombin III deficiency 613118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030711-2 serpind1 3053 SERPIND1 Thrombophilia due to heparin cofactor II deficiency 612356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-60 serpine1 5054 SERPINE1 Plasminogen activator inhibitor-1 deficiency 613329 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-60 serpine1 5054 SERPINE1 {Transcription of plasminogen activator inhibitor, modulator of} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-2 serpinf1 5176 SERPINF1 osteogenesis imperfecta type 6 DOID:0110350 Osteogenesis imperfecta, type VI 613982 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060822-1 serpinf2a 5345 SERPINF2 alpha-2-plasmin inhibitor deficiency DOID:0060601 Alpha-2-plasmin inhibitor deficiency 262850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-114 serpinf2b 5345 SERPINF2 alpha-2-plasmin inhibitor deficiency DOID:0060601 Alpha-2-plasmin inhibitor deficiency 262850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1262 serping1 710 SERPING1 Complement component 4, partial deficiency of 120790 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1262 serping1 710 SERPING1 hereditary angioedema DOID:14735 Angioedema, hereditary, types I and II 106100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-21 serpinh1a 871 SERPINH1 osteogenesis imperfecta type 10 DOID:0110346 Osteogenesis imperfecta, type X 613848 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080219-21 serpinh1a 871 SERPINH1 preterm premature rupture of the membranes DOID:0111144 {Preterm premature rupture of the membranes, susceptibility to} 610504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-93 serpinh1b 871 SERPINH1 osteogenesis imperfecta type 10 DOID:0110346 Osteogenesis imperfecta, type X 613848 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-93 serpinh1b 871 SERPINH1 preterm premature rupture of the membranes DOID:0111144 {Preterm premature rupture of the membranes, susceptibility to} 610504 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-390 serpini1 5274 SERPINI1 familial encephalopathy with neuroserpin inclusion bodies DOID:0050831 Encephalopathy, familial, with neuroserpin inclusion bodies 604218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2221 seta 6418 SET Mental retardation, autosomal dominant 58 618106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-433 setb 6418 SET Mental retardation, autosomal dominant 58 618106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-72 setbp1 26040 SETBP1 Schinzel-Giedion midface retraction syndrome 269150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-72 setbp1 26040 SETBP1 autosomal dominant non-syndromic intellectual disability 29 DOID:0070059 Mental retardation, autosomal dominant 29 616078 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2140 setd2 29072 SETD2 Luscan-Lumish syndrome 616831 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080523-1 setd5 55209 SETD5 autosomal dominant non-syndromic intellectual disability 23 DOID:0070053 Mental retardation, autosomal dominant 23 615761 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-1 setx 23064 SETX amyotrophic lateral sclerosis type 4 DOID:0060196 Amyotrophic lateral sclerosis 4, juvenile 602433 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-1 setx 23064 SETX ataxia with oculomotor apraxia type 2 DOID:0050755 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 606002 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040827-3 sf3b1 23451 SF3B1 myelodysplastic syndrome DOID:0050908 Myelodysplastic syndrome, somatic 614286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-22 sf3b4 10262 SF3B4 Nager acrofacial dysostosis DOID:5768 Acrofacial dysostosis 1, Nager type 154400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-378 sftpba 6439 SFTPB pulmonary alveolar proteinosis DOID:12120 Surfactant metabolism dysfunction, pulmonary, 1 265120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-155 sftpbb 6439 SFTPB pulmonary alveolar proteinosis DOID:12120 Surfactant metabolism dysfunction, pulmonary, 1 265120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-187 sfxn4 119559 SFXN4 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 18 615578 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-121 sgca 6442 SGCA autosomal recessive limb-girdle muscular dystrophy type 2D DOID:0110278 Muscular dystrophy, limb-girdle, autosomal recessive 3 608099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6695 sgcb 6443 SGCB autosomal recessive limb-girdle muscular dystrophy type 2E DOID:0110279 Muscular dystrophy, limb-girdle, autosomal recessive 4 604286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3684 sgcd 6444 SGCD autosomal recessive limb-girdle muscular dystrophy type 2F DOID:0110280 Muscular dystrophy, limb-girdle, autosomal recessive 6 601287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3684 sgcd 6444 SGCD dilated cardiomyopathy 1L DOID:0110436 Cardiomyopathy, dilated, 1L 606685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030724-1 sgce 8910 SGCE myoclonic dystonia 11 DOID:0090034 Dystonia-11, myoclonic 159900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030724-2 sgcg 6445 SGCG autosomal recessive limb-girdle muscular dystrophy type 2C DOID:0110277 Muscular dystrophy, limb-girdle, autosomal recessive 5 253700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070730-2 sgms2a 166929 SGMS2 Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 126550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-422 sgo1 151648 SGO1 chronic atrial and intestinal dysrhythmia DOID:0060339 Chronic atrial and intestinal dysrhythmia 616201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-24 sgpl1 8879 SGPL1 nephrotic syndrome type 14 DOID:0080265 Nephrotic syndrome, type 14 617575 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4958 sgsh 6448 SGSH mucopolysaccharidosis III DOID:12801 Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-359 sh2b3 10019 SH2B3 essential thrombocythemia DOID:2224 Thrombocythemia, somatic 187950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-359 sh2b3 10019 SH2B3 familial erythrocytosis 1 DOID:0060652 Erythrocytosis, somatic 133100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-359 sh2b3 10019 SH2B3 myelofibrosis DOID:4971 Myelofibrosis, somatic 254450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-212 sh2d1aa 4068 SH2D1A X-linked lymphoproliferative syndrome 1 DOID:0060705 Lymphoproliferative syndrome, X-linked, 1 308240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-326 sh2d1ab 4068 SH2D1A X-linked lymphoproliferative syndrome 1 DOID:0060705 Lymphoproliferative syndrome, X-linked, 1 308240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-268 sh3bp2 6452 SH3BP2 cherubism DOID:1856 Cherubism 118400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4524 sh3gl1a 6455 SH3GL1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031001-6 sh3gl1b 6455 SH3GL1 acute myeloid leukemia DOID:9119 Leukemia, acute myeloid 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-186 sh3kbp1 30011 SH3KBP1 ?Immunodeficiency 61 300310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-52 sh3pxd2b 285590 SH3PXD2B Frank-ter Haar syndrome 249420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-347 sh3tc2 79628 SH3TC2 Mononeuropathy of the median nerve, mild 613353 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-347 sh3tc2 79628 SH3TC2 Charcot-Marie-Tooth disease type 4C DOID:0110183 Charcot-Marie-Tooth disease, type 4C 601596 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-58 shank2b 22941 SHANK2 {Autism susceptibility 17} 613436 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-369 shank3a 85358 SHANK3 Phelan-McDermid syndrome DOID:0080354 Phelan-McDermid syndrome 606232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-369 shank3a 85358 SHANK3 schizophrenia 15 DOID:0070091 {Schizophrenia 15} 613950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-74 shank3b 85358 SHANK3 Phelan-McDermid syndrome DOID:0080354 Phelan-McDermid syndrome 606232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-74 shank3b 85358 SHANK3 schizophrenia 15 DOID:0070091 {Schizophrenia 15} 613950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-166 shha 6469 SHH Microphthalmia with coloboma 5 611638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-166 shha 6469 SHH Schizencephaly 269160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-166 shha 6469 SHH Single median maxillary central incisor 147250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-166 shha 6469 SHH holoprosencephaly 3 DOID:0110875 Holoprosencephaly 3 142945 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-41 shhb 6469 SHH Microphthalmia with coloboma 5 611638 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-41 shhb 6469 SHH Schizencephaly 269160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-41 shhb 6469 SHH Single median maxillary central incisor 147250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-41 shhb 6469 SHH holoprosencephaly 3 DOID:0110875 Holoprosencephaly 3 142945 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-523 shoc2 8036 SHOC2 Noonan-like syndrome with loose anagen hair 607721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-21 shox 6473 SHOX Langer mesomelic dysplasia 249700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-21 shox 6473 SHOX Short stature, idiopathic familial 300582 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-21 shox 6473 SHOX Leri-Weill dyschondrosteosis DOID:0060847 Leri-Weill dyschondrosteosis 127300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-357 shpk 23729 SHPK [Sedoheptulokinase deficiency] 617213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-246 shroom4 57477 SHROOM4 Stocco dos Santos X-linked mental retardation syndrome 300434 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4622 si 6476 SI Sucrase-isomaltase deficiency, congenital 222900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1032 siae 54414 SIAE {Autoimmune disease, susceptibility to, 6} 613551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120119-1 si:ch211-185a18.2 9786 KIAA0586 Joubert syndrome 23 DOID:0110992 Joubert syndrome 23 616490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120119-1 si:ch211-185a18.2 9786 KIAA0586 short-rib thoracic dysplasia 14 with polydactyly DOID:0110096 Short-rib thoracic dysplasia 14 with polydactyly 616546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-98 si:ch211-233a24.2 84162 KIAA1109 Alkuraya-Kucinskas syndrome 617822 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130109-1 si:ch211-275j6.5 91574 C12orf65 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 7 613559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130109-1 si:ch211-275j6.5 91574 C12orf65 hereditary spastic paraplegia 55 DOID:0110807 Spastic paraplegia 55, autosomal recessive 615035 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-272 si:ch73-280o22.2 285600 KIAA0825 Polydactyly, postaxial, type A10 618498 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-86 si:dkey-242e21.4 157657 C8orf37 Bardet-Biedl syndrome 21 617406 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-86 si:dkey-242e21.4 157657 C8orf37 cone-rod dystrophy 16 DOID:0111022 Cone-rod dystrophy 16 614500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-86 si:dkey-242e21.4 157657 C8orf37 cone-rod dystrophy 16 DOID:0111022 Retinitis pigmentosa 64 614500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6399 si:dkey-243i1.1 9851 KIAA0753 ?Orofaciodigital syndrome XV 617127 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1006 sigmar1 10280 SIGMAR1 amyotrophic lateral sclerosis type 16 DOID:0060207 ?Amyotrophic lateral sclerosis 16, juvenile 614373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1006 sigmar1 10280 SIGMAR1 distal spinal muscular atrophy 2 DOID:0111065 ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9446 sik1 150094 SIK1 early infantile epileptic encephalopathy 30 DOID:0080465 Epileptic encephalopathy, early infantile, 30 616341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-203 sik3 23387 SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type 618162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-160113-49 sil1 64374 SIL1 Marinesco-Sjogren syndrome DOID:0080195 Marinesco-Sjogren syndrome 248800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-3 sin3aa 25942 SIN3A chromosome 15q24 deletion syndrome DOID:0060395 Witteveen-Kolk syndrome 613406 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2066 sin3ab 25942 SIN3A chromosome 15q24 deletion syndrome DOID:0060395 Witteveen-Kolk syndrome 613406 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-109 sipa1l3 23094 SIPA1L3 cataract 45 DOID:0110262 ?Cataract 45 616851 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-155 six1a 6495 SIX1 autosomal dominant nonsyndromic deafness 23 DOID:0110553 Deafness, autosomal dominant 23 605192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-155 six1a 6495 SIX1 branchiootic syndrome DOID:0060232 Branchiootic syndrome 3 608389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2308 six1b 6495 SIX1 autosomal dominant nonsyndromic deafness 23 DOID:0110553 Deafness, autosomal dominant 23 605192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2308 six1b 6495 SIX1 branchiootic syndrome DOID:0060232 Branchiootic syndrome 3 608389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-127 six3a 6496 SIX3 Schizencephaly 269160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-127 six3a 6496 SIX3 holoprosencephaly 2 DOID:0110872 Holoprosencephaly 2 157170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-128 six3b 6496 SIX3 Schizencephaly 269160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-128 six3b 6496 SIX3 holoprosencephaly 2 DOID:0110872 Holoprosencephaly 2 157170 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010201-3 six5 147912 SIX5 branchiootorenal syndrome DOID:14702 Branchiootorenal syndrome 2 610896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1282 six6a 4990 SIX6 Optic disc anomalies with retinal and/or macular dystrophy 212550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-308 six6b 4990 SIX6 Optic disc anomalies with retinal and/or macular dystrophy 212550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-9 skia 6497 SKI craniosynostosis DOID:2340 Shprintzen-Goldberg syndrome 182212 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-10 skib 6497 SKI craniosynostosis DOID:2340 Shprintzen-Goldberg syndrome 182212 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010430-5 skiv2l 6499 SKIV2L Trichohepatoenteric syndrome 2 614602 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1328 slc10a2 6555 SLC10A2 Bile acid malabsorption, primary 613291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-5 slc10a7 84068 SLC10A7 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-1 slc11a2 4891 SLC11A2 hypochromic microcytic anemia DOID:0050642 Anemia, hypochromic microcytic, with iron overload 1 206100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080130-3 slc12a1 6557 SLC12A1 Bartter disease type 1 DOID:0110142 Bartter syndrome, type 1 601678 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9505 slc12a3 6559 SLC12A3 Gitelman syndrome DOID:0050450 Gitelman syndrome 263800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120927-3 slc12a5a 57468 SLC12A5 early infantile epileptic encephalopathy 34 DOID:0080460 Epileptic encephalopathy, early infantile, 34 616645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120927-3 slc12a5a 57468 SLC12A5 idiopathic generalized epilepsy 14 DOID:0111315 {Epilepsy, idiopathic generalized, susceptibility to, 14} 616685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080707-1 slc12a5b 57468 SLC12A5 early infantile epileptic encephalopathy 34 DOID:0080460 Epileptic encephalopathy, early infantile, 34 616645 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080707-1 slc12a5b 57468 SLC12A5 idiopathic generalized epilepsy 14 DOID:0111315 {Epilepsy, idiopathic generalized, susceptibility to, 14} 616685 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2486 slc13a3 64849 SLC13A3 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 618384 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4628 slc13a5a 284111 SLC13A5 early infantile epileptic encephalopathy 25 DOID:0080453 Epileptic encephalopathy, early infantile, 25 615905 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-605 slc13a5b 284111 SLC13A5 early infantile epileptic encephalopathy 25 DOID:0080453 Epileptic encephalopathy, early infantile, 25 615905 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4833 slc14a2 6563 SLC14A1 [Blood group, Kidd] 111000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4833 slc14a2 8170 SLC14A2 [Blood group, Kidd] 111000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080721-24 slc16a12a 387700 SLC16A12 Cataract 47, juvenile, with microcornea 612018 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-80 slc16a12b 387700 SLC16A12 Cataract 47, juvenile, with microcornea 612018 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-16 slc16a1a 6566 SLC16A1 Erythrocyte lactate transporter defect 245340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-16 slc16a1a 6566 SLC16A1 Monocarboxylate transporter 1 deficiency 616095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-16 slc16a1a 6566 SLC16A1 familial hyperinsulinemic hypoglycemia 7 DOID:0070214 Hyperinsulinemic hypoglycemia, familial, 7 610021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030515-5 slc16a1b 6566 SLC16A1 Erythrocyte lactate transporter defect 245340 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030515-5 slc16a1b 6566 SLC16A1 Monocarboxylate transporter 1 deficiency 616095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030515-5 slc16a1b 6566 SLC16A1 familial hyperinsulinemic hypoglycemia 7 DOID:0070214 Hyperinsulinemic hypoglycemia, familial, 7 610021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120117-1 slc16a2 6567 SLC16A2 Allan-Herndon-Dudley syndrome DOID:0050631 Allan-Herndon-Dudley syndrome 300523 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1158 slc17a5 26503 SLC17A5 Sialic acid storage disorder, infantile 269920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1158 slc17a5 26503 SLC17A5 sialuria DOID:3659 Salla disease 604369 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-416 slc17a8 246213 SLC17A8 autosomal dominant nonsyndromic deafness 25 DOID:0110555 Deafness, autosomal dominant 25 605583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081021-1 slc17a9a 63910 SLC17A9 Porokeratosis 8, disseminated superficial actinic type 616063 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-380 slc17a9b 63910 SLC17A9 Porokeratosis 8, disseminated superficial actinic type 616063 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080514-1 slc18a2 6571 SLC18A2 ?Parkinsonism-dystonia, infantile, 2 618049 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-990 slc18a3a 6572 SLC18A3 congenital myasthenic syndrome 21 DOID:0110672 Myasthenic syndrome, congenital, 21, presynaptic 617239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1410 slc18a3b 6572 SLC18A3 congenital myasthenic syndrome 21 DOID:0110672 Myasthenic syndrome, congenital, 21, presynaptic 617239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-262 slc19a2 10560 SLC19A2 thiamine-responsive megaloblastic anemia syndrome DOID:0090117 Thiamine-responsive megaloblastic anemia syndrome 249270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-41 slc19a3a 80704 SLC19A3 biotin-responsive basal ganglia disease DOID:0050659 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-166 slc19a3b 80704 SLC19A3 biotin-responsive basal ganglia disease DOID:0050659 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-414 slc1a1 6505 SLC1A1 dicarboxylic aminoaciduria DOID:0060650 Dicarboxylic aminoaciduria 222730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-414 slc1a1 6505 SLC1A1 schizophrenia 18 DOID:0070093 {?Schizophrenia susceptibility 18} 615232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100422-11 slc1a2a 6506 SLC1A2 early infantile epileptic encephalopathy 41 DOID:0080442 Epileptic encephalopathy, early infantile, 41 617105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7779 slc1a2b 6506 SLC1A2 early infantile epileptic encephalopathy 41 DOID:0080442 Epileptic encephalopathy, early infantile, 41 617105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2159 slc1a3a 6507 SLC1A3 episodic ataxia type 6 DOID:0050994 Episodic ataxia, type 6 612656 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090708-3 slc1a3b 6507 SLC1A3 episodic ataxia type 6 DOID:0050994 Episodic ataxia, type 6 612656 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-566 slc1a4 6509 SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 616657 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-828 slc20a2 6575 SLC20A2 basal ganglia calcification DOID:0060230 Basal ganglia calcification, idiopathic, 1 213600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-165 slc22a18 5002 SLC22A18 breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-165 slc22a18 5002 SLC22A18 embryonal rhabdomyosarcoma DOID:3246 Rhabdomyosarcoma, somatic 268210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-165 slc22a18 5002 SLC22A18 lung cancer DOID:1324 Lung cancer, somatic 211980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1517 slc22a4 6583 SLC22A4 rheumatoid arthritis DOID:7148 {Rheumatoid arthritis, susceptibility to} 180300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091012-1 slc22a5 6584 SLC22A5 systemic primary carnitine deficiency disease DOID:14365 Carnitine deficiency, systemic primary 212140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-191 slc24a1 9187 SLC24A1 congenital stationary night blindness 1D DOID:0110868 Night blindness, congenital stationary (complete), 1D, autosomal recessive 613830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-291 slc24a4a 123041 SLC24A4 [Skin/hair/eye pigmentation 6, blond/brown hair] 210750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-291 slc24a4a 123041 SLC24A4 [Skin/hair/eye pigmentation 6, blue/green eyes] 210750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-291 slc24a4a 123041 SLC24A4 amelogenesis imperfecta hypomaturation type 2A5 DOID:0110063 Amelogenesis imperfecta, type IIA5 615887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-75 slc24a4b 123041 SLC24A4 [Skin/hair/eye pigmentation 6, blond/brown hair] 210750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-75 slc24a4b 123041 SLC24A4 [Skin/hair/eye pigmentation 6, blue/green eyes] 210750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081031-75 slc24a4b 123041 SLC24A4 amelogenesis imperfecta hypomaturation type 2A5 DOID:0110063 Amelogenesis imperfecta, type IIA5 615887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031210-1 slc24a5 283652 SLC24A5 Albinism, oculocutaneous, type VI 113750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031210-1 slc24a5 283652 SLC24A5 [Skin/hair/eye pigmentation 4, fair/dark skin] 113750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-79 slc25a11 8402 SLC25A11 Paragangliomas 6 618464 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-11 slc25a12 8604 SLC25A12 early infantile epileptic encephalopathy 39 DOID:0080349 Epileptic encephalopathy, early infantile, 39 612949 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080319-2 slc25a13 10165 SLC25A13 citrullinemia DOID:9273 Citrullinemia, adult-onset type II 603471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080319-2 slc25a13 10165 SLC25A13 citrullinemia DOID:9273 Citrullinemia, type II, neonatal-onset 605814 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1072 slc25a15a 10166 SLC25A15 ornithine translocase deficiency DOID:0050720 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-35 slc25a15b 10166 SLC25A15 ornithine translocase deficiency DOID:0050720 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-292 slc25a19 60386 SLC25A19 Microcephaly, Amish type 607196 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-292 slc25a19 60386 SLC25A19 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1172 slc25a1a 6576 SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria 615182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1172 slc25a1a 6576 SLC25A1 ?Myasthenic syndrome, congenital, 23, presynaptic 618197 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130114-1 slc25a1b 6576 SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria 615182 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130114-1 slc25a1b 6576 SLC25A1 ?Myasthenic syndrome, congenital, 23, presynaptic 618197 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1869 slc25a20 788 SLC25A20 Carnitine-acylcarnitine translocase deficiency 212138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-61 slc25a22a 79751 SLC25A22 early infantile epileptic encephalopathy 3 DOID:0080440 Epileptic encephalopathy, early infantile, 3 609304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-66 slc25a22b 79751 SLC25A22 early infantile epileptic encephalopathy 3 DOID:0080440 Epileptic encephalopathy, early infantile, 3 609304 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-183 slc25a24 29957 SLC25A24 Fontaine progeroid syndrome 612289 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-126 slc25a26 115286 SLC25A26 Combined oxidative phosphorylation deficiency 28 616794 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-758 slc25a32a 81034 SLC25A32 ?Exercise intolerance, riboflavin-responsive 616839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-39 slc25a32b 81034 SLC25A32 ?Exercise intolerance, riboflavin-responsive 616839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-320 slc25a38a 54977 SLC25A38 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 DOID:0060065 Anemia, sideroblastic, 2, pyridoxine-refractory 205950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110214-1 slc25a38b 54977 SLC25A38 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 DOID:0060065 Anemia, sideroblastic, 2, pyridoxine-refractory 205950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1673 slc25a3a 5250 SLC25A3 Mitochondrial phosphate carrier deficiency 610773 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1916 slc25a3b 5250 SLC25A3 Mitochondrial phosphate carrier deficiency 610773 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5275 slc25a4 291 SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5275 slc25a4 291 SLC25A4 mitochondrial DNA depletion syndrome 12a DOID:0080130 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5275 slc25a4 291 SLC25A4 mitochondrial DNA depletion syndrome 12b DOID:0080335 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-313 slc25a42 284439 SLC25A42 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-296 slc25a46 91137 SLC25A46 Charcot-Marie-Tooth disease type 6 DOID:0080068 Neuropathy, hereditary motor and sensory, type VIB 616505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2182 slc26a1 10861 SLC26A1 nephrolithiasis DOID:585 ?Nephrolithiasis, calcium oxalate 167030 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 achondrogenesis type IB DOID:0080055 Achondrogenesis Ib 600972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 atelosteogenesis DOID:0050648 Atelosteogenesis, type II 256050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 atelosteogenesis DOID:0050648 De la Chapelle dysplasia 256050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 diastrophic dysplasia DOID:14687 Diastrophic dysplasia 222600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 diastrophic dysplasia DOID:14687 Diastrophic dysplasia, broad bone-platyspondylic variant 222600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-3 slc26a2 1836 SLC26A2 multiple epiphyseal dysplasia 4 DOID:0070300 Epiphyseal dysplasia, multiple, 4 226900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-180 slc26a3.1 1811 SLC26A3 congenital secretory chloride diarrhea 1 DOID:0060296 Diarrhea 1, secretory chloride, congenital 214700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-179 slc26a3.2 1811 SLC26A3 congenital secretory chloride diarrhea 1 DOID:0060296 Diarrhea 1, secretory chloride, congenital 214700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-544 slc26a4 5172 SLC26A4 autosomal recessive nonsyndromic deafness 4 DOID:0110498 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-544 slc26a4 5172 SLC26A4 Pendred Syndrome DOID:0060744 Pendred syndrome 274600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1566 slc26a5 375611 SLC26A5 autosomal recessive nonsyndromic deafness 61 DOID:0110513 ?Deafness, autosomal recessive 61 613865 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-248 slc27a4 10999 SLC27A4 Ichthyosis prematurity syndrome 608649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-117 slc28a1 9154 SLC28A1 [Uridine-cytidineuria] 618477 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-66 slc29a3 55315 SLC29A3 histiocytosis-lymphadenopathy plus syndrome DOID:0111278 Histiocytosis-lymphadenopathy plus syndrome 602782 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-6 slc2a10 81031 SLC2A10 arterial tortuosity syndrome DOID:0050645 Arterial tortuosity syndrome 208050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3158 slc2a1a 6513 SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3158 slc2a1a 6513 SLC2A1 Stomatin-deficient cryohydrocytosis with neurologic defects 608885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3158 slc2a1a 6513 SLC2A1 childhood onset GLUT1 deficiency syndrome 2 DOID:0090045 GLUT1 deficiency syndrome 2, childhood onset 612126 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3158 slc2a1a 6513 SLC2A1 dystonia 9 DOID:0090044 Dystonia 9 601042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3158 slc2a1a 6513 SLC2A1 idiopathic generalized epilepsy 12 DOID:0111313 {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090915-1 slc2a1b 6513 SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090915-1 slc2a1b 6513 SLC2A1 Stomatin-deficient cryohydrocytosis with neurologic defects 608885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090915-1 slc2a1b 6513 SLC2A1 childhood onset GLUT1 deficiency syndrome 2 DOID:0090045 GLUT1 deficiency syndrome 2, childhood onset 612126 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090915-1 slc2a1b 6513 SLC2A1 dystonia 9 DOID:0090044 Dystonia 9 601042 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090915-1 slc2a1b 6513 SLC2A1 idiopathic generalized epilepsy 12 DOID:0111313 {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1213 slc2a2 6514 SLC2A2 Fanconi-Bickel syndrome 227810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1213 slc2a2 6514 SLC2A2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060608-2 slc30a10 55532 SLC30A10 hypermanganesemia with dystonia 1 DOID:0080536 Hypermanganesemia with dystonia 1 613280 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-347 slc30a2 7780 SLC30A2 Zinc deficiency, transient neonatal 608118 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060315-10 slc30a8 169026 SLC30A8 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-254 slc30a9 10463 SLC30A9 ?Birk-Landau-Perez syndrome 617595 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1241 slc33a1 9197 SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration 614482 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1241 slc33a1 9197 SLC33A1 hereditary spastic paraplegia 42 DOID:0110794 Spastic paraplegia 42, autosomal dominant 612539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-3 slc34a1a 6569 SLC34A1 Hypercalcemia, infantile, 2 616963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-3 slc34a1a 6569 SLC34A1 Fanconi syndrome DOID:1062 ?Fanconi renotubular syndrome 2 613388 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-3 slc34a1a 6569 SLC34A1 hypophosphatemic nephrolithiasis/osteoporosis 1 DOID:0080077 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-4 slc34a1b 6569 SLC34A1 Hypercalcemia, infantile, 2 616963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-4 slc34a1b 6569 SLC34A1 Fanconi syndrome DOID:1062 ?Fanconi renotubular syndrome 2 613388 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101006-4 slc34a1b 6569 SLC34A1 hypophosphatemic nephrolithiasis/osteoporosis 1 DOID:0080077 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000524-1 slc34a2a 10568 SLC34A2 pulmonary alveolar microlithiasis DOID:12117 Pulmonary alveolar microlithiasis 265100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030709-1 slc34a2b 10568 SLC34A2 pulmonary alveolar microlithiasis DOID:12117 Pulmonary alveolar microlithiasis 265100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-17 slc35a1 10559 SLC35A1 congenital disorder of glycosylation type IIf DOID:0070258 Congenital disorder of glycosylation, type IIf 603585 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-62 slc35a2 7355 SLC35A2 congenital disorder of glycosylation type IIm DOID:0070265 Congenital disorder of glycosylation, type IIm 300896 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-80 slc35a3a 23443 SLC35A3 ?Arthrogryposis, mental retardation, and seizures 615553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-460 slc35a3b 23443 SLC35A3 ?Arthrogryposis, mental retardation, and seizures 615553 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041212-11 slc35c1 55343 SLC35C1 congenital disorder of glycosylation type IIc DOID:0070255 Congenital disorder of glycosylation, type IIc 266265 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040826-5 slc35d1a 23169 SLC35D1 schneckenbecken dysplasia DOID:0050775 Schneckenbecken dysplasia 269250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1213 slc35d1b 23169 SLC35D1 schneckenbecken dysplasia DOID:0050775 Schneckenbecken dysplasia 269250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 206358 SLC36A1 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 206358 SLC36A1 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 153201 SLC36A2 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 153201 SLC36A2 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 285641 SLC36A3 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061117-1 slc36a1 285641 SLC36A3 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2230 slc37a4a 2542 SLC37A4 glycogen storage disease I DOID:2749 Glycogen storage disease Ib 232220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2230 slc37a4a 2542 SLC37A4 glycogen storage disease I DOID:2749 Glycogen storage disease Ic 232240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-827 slc37a4b 2542 SLC37A4 glycogen storage disease I DOID:2749 Glycogen storage disease Ib 232220 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-827 slc37a4b 2542 SLC37A4 glycogen storage disease I DOID:2749 Glycogen storage disease Ic 232240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121005-5 slc38a8a 146167 SLC38A8 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121005-6 slc38a8b 146167 SLC38A8 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-17 slc39a13 91252 SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3 612350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060315-2 slc39a14 23516 SLC39A14 ?Hyperostosis cranalis interna 144755 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060315-2 slc39a14 23516 SLC39A14 hypermanganesemia with dystonia 2 DOID:0080537 Hypermanganesemia with dystonia 2 617013 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060315-8 slc39a4 55630 SLC39A4 acrodermatitis enteropathica DOID:0050605 Acrodermatitis enteropathica 201100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060608-1 slc39a5 283375 SLC39A5 myopia DOID:11830 Myopia 24, autosomal dominant 615946 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-124 slc39a8 64116 SLC39A8 congenital disorder of glycosylation type IIn DOID:0070266 Congenital disorder of glycosylation, type IIn 616721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-225 slc3a1 6519 SLC3A1 cystinuria DOID:9266 Cystinuria 220100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000511-8 slc40a1 30061 SLC40A1 hemochromatosis type 4 DOID:0111028 Hemochromatosis, type 4 606069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1371 slc44a4 80736 SLC44A4 autosomal dominant nonsyndromic deafness 72 DOID:0080268 ?Deafness, autosomal dominant 72 617606 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2152 slc45a1 50651 SLC45A1 Intellectual developmental disorder with neuropsychiatric features 617532 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-97 slc45a2 51151 SLC45A2 [Skin/hair/eye pigmentation 5, black/nonblack hair] 227240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-97 slc45a2 51151 SLC45A2 [Skin/hair/eye pigmentation 5, dark/fair skin] 227240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-97 slc45a2 51151 SLC45A2 [Skin/hair/eye pigmentation 5, dark/light eyes] 227240 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-97 slc45a2 51151 SLC45A2 oculocutaneous albinism type IV DOID:0070098 Albinism, oculocutaneous, type IV 606574 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1012 slc46a1 113235 SLC46A1 Folate malabsorption, hereditary 229050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-167 slc49a4 84925 SLC49A4 nonpapillary renal cell carcinoma DOID:0050387 Renal cell carcinoma 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-183 slc4a11 83959 SLC4A11 Corneal endothelial dystrophy and perceptive deafness 217400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-183 slc4a11 83959 SLC4A11 congenital hereditary endothelial dystrophy of cornea DOID:0060649 Corneal endothelial dystrophy, autosomal recessive 217700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-183 slc4a11 83959 SLC4A11 Fuchs' endothelial dystrophy DOID:11555 Corneal dystrophy, Fuchs endothelial, 4 613268 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Blood group, Diego] 110500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Blood group, Froese] 601551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Blood group, Swann] 601550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Blood group, Waldner] 112010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Blood group, Wright] 112050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 Cryohydrocytosis 185020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 [Malaria, resistance to] 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 Ovalocytosis, SA type 166900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 Renal tubular acidosis, distal, AD 179800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 Renal tubular acidosis, distal, AR 611590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010525-1 slc4a1a 6521 SLC4A1 hereditary spherocytosis type 4 DOID:0110919 Spherocytosis, type 4 612653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Blood group, Diego] 110500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Blood group, Froese] 601551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Blood group, Swann] 601550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Blood group, Waldner] 112010 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Blood group, Wright] 112050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 Cryohydrocytosis 185020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 [Malaria, resistance to] 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 Ovalocytosis, SA type 166900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 Renal tubular acidosis, distal, AD 179800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 Renal tubular acidosis, distal, AR 611590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110215-2 slc4a1b 6521 SLC4A1 hereditary spherocytosis type 4 DOID:0110919 Spherocytosis, type 4 612653 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-274 slc4a4a 8671 SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities 604278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091030-1 slc4a4b 8671 SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities 604278 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2552 slc52a2 79581 SLC52A2 Brown-Vialetto-Van Laere syndrome 2 614707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4490 slc52a3 113278 SLC52A3 ?Fazio-Londe disease 211500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-4490 slc52a3 113278 SLC52A3 Brown-Vialetto-Van Laere syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome 1 211530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1524 slc5a1 6523 SLC5A1 Glucose/galactose malabsorption 606824 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2498 slc5a2 6524 SLC5A2 renal glycosuria DOID:9432 Renal glucosuria 233100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-585 slc5a5 6528 SLC5A5 Thyroid dyshormonogenesis 1 274400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-273 slc5a7a 60482 SLC5A7 congenital myasthenic syndrome 20 DOID:0110661 Myasthenic syndrome, congenital, 20, presynaptic 617143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-273 slc5a7a 60482 SLC5A7 distal hereditary motor neuronopathy type 7A DOID:0111201 Neuronopathy, distal hereditary motor, type VIIA 158580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140429-1 slc5a7b 60482 SLC5A7 congenital myasthenic syndrome 20 DOID:0110661 Myasthenic syndrome, congenital, 20, presynaptic 617143 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140429-1 slc5a7b 60482 SLC5A7 distal hereditary motor neuronopathy type 7A DOID:0111201 Neuronopathy, distal hereditary motor, type VIIA 158580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8187 slc6a17 388662 SLC6A17 Mental retardation, autosomal recessive 48 616269 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-2 slc6a19a.1 340024 SLC6A19 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-2 slc6a19a.1 340024 SLC6A19 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070620-2 slc6a19a.1 340024 SLC6A19 Hartnup disease DOID:1060 Hartnup disorder 234500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141210-16 slc6a19a.2 340024 SLC6A19 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141210-16 slc6a19a.2 340024 SLC6A19 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141210-16 slc6a19a.2 340024 SLC6A19 Hartnup disease DOID:1060 Hartnup disorder 234500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4755 slc6a19b 340024 SLC6A19 Hyperglycinuria 138500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4755 slc6a19b 340024 SLC6A19 Iminoglycinuria, digenic 242600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4755 slc6a19b 340024 SLC6A19 Hartnup disease DOID:1060 Hartnup disorder 234500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060519-23 slc6a1a 6529 SLC6A1 Myoclonic-atonic epilepsy 616421 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-57 slc6a1b 6529 SLC6A1 Myoclonic-atonic epilepsy 616421 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-4 slc6a2 6530 SLC6A2 postural orthostatic tachycardia syndrome DOID:0111154 ?Orthostatic intolerance 604715 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010316-1 slc6a3 6531 SLC6A3 {Nicotine dependence, protection against} 188890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010316-1 slc6a3 6531 SLC6A3 Parkinsonism-dystonia, infantile, 1 613135 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060314-1 slc6a4a 6532 SLC6A4 {Obsessive-compulsive disorder} 164230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060314-1 slc6a4a 6532 SLC6A4 anxiety disorder DOID:2030 {Anxiety-related personality traits} 607834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060314-2 slc6a4b 6532 SLC6A4 {Obsessive-compulsive disorder} 164230 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060314-2 slc6a4b 6532 SLC6A4 anxiety disorder DOID:2030 {Anxiety-related personality traits} 607834 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050105-2 slc6a5 9152 SLC6A5 hyperekplexia 3 DOID:0060698 Hyperekplexia 3 614618 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071024-2 slc6a8 6535 SLC6A8 creatine transporter deficiency DOID:0050800 Cerebral creatine deficiency syndrome 1 300352 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050105-3 slc6a9 6536 SLC6A9 Glycine encephalopathy with normal serum glycine 617301 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-112 slc7a14a 57709 SLC7A14 retinitis pigmentosa 68 DOID:0110374 Retinitis pigmentosa 68 615725 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-47 slc7a14b 57709 SLC7A14 retinitis pigmentosa 68 DOID:0110374 Retinitis pigmentosa 68 615725 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-5 slc7a7 9056 SLC7A7 lysinuric protein intolerance DOID:0060439 Lysinuric protein intolerance 222700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080116-2 slc7a9 11136 SLC7A9 cystinuria DOID:9266 Cystinuria 220100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170609-1 slc9a1a 6548 SLC9A1 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 ?Lichtenstein-Knorr syndrome 616291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080225-42 slc9a1b 6548 SLC9A1 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 ?Lichtenstein-Knorr syndrome 616291 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-545 slc9a3.1 6550 SLC9A3 congenital secretory sodium diarrhea 8 DOID:0060777 Diarrhea 8, secretory sodium, congenital 616868 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-640 slc9a3.2 6550 SLC9A3 congenital secretory sodium diarrhea 8 DOID:0060777 Diarrhea 8, secretory sodium, congenital 616868 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031006-7 slc9a3r1a 9368 SLC9A3R1 hypophosphatemic nephrolithiasis/osteoporosis 2 DOID:0080078 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 612287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170530-6 slc9a3r1b 9368 SLC9A3R1 hypophosphatemic nephrolithiasis/osteoporosis 2 DOID:0080078 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 612287 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-104 slc9a6a 10479 SLC9A6 Christianson syndrome DOID:0060825 Mental retardation, X-linked syndromic, Christianson type 300243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080226-2 slc9a6b 10479 SLC9A6 Christianson syndrome DOID:0060825 Mental retardation, X-linked syndromic, Christianson type 300243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-8 slc9a7 84679 SLC9A7 Intellectual developmental disorder, X-linked 108 301024 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060606-3 slco2a1 6578 SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-139 slitrk1 114798 SLITRK1 Gilles de la Tourette syndrome DOID:11119 Tourette syndrome 137580 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-139 slitrk1 114798 SLITRK1 trichotillomania DOID:0050587 ?Trichotillomania 613229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2816 slitrk6 84189 SLITRK6 Deafness and myopia 221200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050208-359 slx4 84464 SLX4 Fanconi anemia complementation group P DOID:0111092 Fanconi anemia, complementation group P 613951 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000509-3 smad3a 4088 SMAD3 Loeys-Dietz syndrome 3 DOID:0070237 Loeys-Dietz syndrome 3 613795 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030128-4 smad3b 4088 SMAD3 Loeys-Dietz syndrome 3 DOID:0070237 Loeys-Dietz syndrome 3 613795 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990603-8 smad4a 4089 SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990603-8 smad4a 4089 SMAD4 Myhre syndrome 139210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990603-8 smad4a 4089 SMAD4 juvenile polyposis syndrome DOID:0050787 Polyposis, juvenile intestinal 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990603-8 smad4a 4089 SMAD4 pancreatic carcinoma DOID:4905 Pancreatic cancer, somatic 260350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-140 smad4b 4089 SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-140 smad4b 4089 SMAD4 Myhre syndrome 139210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-140 smad4b 4089 SMAD4 juvenile polyposis syndrome DOID:0050787 Polyposis, juvenile intestinal 174900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060130-140 smad4b 4089 SMAD4 pancreatic carcinoma DOID:4905 Pancreatic cancer, somatic 260350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011015-1 smad6a 4091 SMAD6 {Craniosynostosis 7, susceptibility to} 617439 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011015-1 smad6a 4091 SMAD6 aortic valve disease 2 DOID:0080334 Aortic valve disease 2 614823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-198 smad6b 4091 SMAD6 {Craniosynostosis 7, susceptibility to} 617439 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-198 smad6b 4091 SMAD6 aortic valve disease 2 DOID:0080334 Aortic valve disease 2 614823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030128-3 smad7 4092 SMAD7 {Colorectal cancer, susceptibility to, 3} 612229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031014-1 smad9 4093 SMAD9 primary pulmonary hypertension DOID:14557 Pulmonary hypertension, primary, 2 615342 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5964 smarca2 6595 SMARCA2 Nicolaides-Baraitser syndrome 601358 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030605-1 smarca4a 6597 SMARCA4 {Rhabdoid tumor predisposition syndrome 2} 613325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030605-1 smarca4a 6597 SMARCA4 Coffin-Siris syndrome 4 DOID:0070046 Coffin-Siris syndrome 4 614609 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-1 smarca4b 6597 SMARCA4 {Rhabdoid tumor predisposition syndrome 2} 613325 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-1 smarca4b 6597 SMARCA4 Coffin-Siris syndrome 4 DOID:0070046 Coffin-Siris syndrome 4 614609 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-499 smarcad1a 56916 SMARCAD1 Adermatoglyphia 136000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-499 smarcad1a 56916 SMARCAD1 Basan syndrome 129200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-499 smarcad1a 56916 SMARCAD1 Huriez syndrome 181600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-61 smarcad1b 56916 SMARCAD1 Adermatoglyphia 136000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-61 smarcad1b 56916 SMARCAD1 Basan syndrome 129200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091113-61 smarcad1b 56916 SMARCAD1 Huriez syndrome 181600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-303 smarcal1 50485 SMARCAL1 Schimke immuno-osseous dysplasia DOID:0060490 Schimke immunoosseous dysplasia 242900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-5 smarcb1a 6598 SMARCB1 atypical teratoid rhabdoid tumor DOID:2129 {Rhabdoid tumor predisposition syndrome 1} 609322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-5 smarcb1a 6598 SMARCB1 atypical teratoid rhabdoid tumor DOID:2129 Rhabdoid tumors, somatic 609322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-5 smarcb1a 6598 SMARCB1 Coffin-Siris syndrome 3 DOID:0070045 Coffin-Siris syndrome 3 614608 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-5 smarcb1a 6598 SMARCB1 neurilemmomatosis DOID:3204 {Schwannomatosis-1, susceptibility to} 162091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991008-16 smarcb1b 6598 SMARCB1 atypical teratoid rhabdoid tumor DOID:2129 {Rhabdoid tumor predisposition syndrome 1} 609322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991008-16 smarcb1b 6598 SMARCB1 atypical teratoid rhabdoid tumor DOID:2129 Rhabdoid tumors, somatic 609322 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991008-16 smarcb1b 6598 SMARCB1 Coffin-Siris syndrome 3 DOID:0070045 Coffin-Siris syndrome 3 614608 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991008-16 smarcb1b 6598 SMARCB1 neurilemmomatosis DOID:3204 {Schwannomatosis-1, susceptibility to} 162091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100728-1 smarcc2 6601 SMARCC2 Coffin-Siris syndrome 8 618362 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080215-1 smarcd2 6603 SMARCD2 Specific granule deficiency 2 617475 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-967 smarce1 6605 SMARCE1 Coffin-Siris syndrome 5 616938 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-967 smarce1 6605 SMARCE1 {Meningioma, familial, susceptibility to} 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090506-9 smc1a 8243 SMC1A Cornelia de Lange syndrome 2 DOID:0080506 Cornelia de Lange syndrome 2 300590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-57 smc1al 8243 SMC1A Cornelia de Lange syndrome 2 DOID:0080506 Cornelia de Lange syndrome 2 300590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3196 smc3 9126 SMC3 Cornelia de Lange syndrome 3 DOID:0080507 Cornelia de Lange syndrome 3 610759 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-6 smchd1 23347 SMCHD1 Bosma arhinia microphthalmia syndrome 603457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050211-6 smchd1 23347 SMCHD1 facioscapulohumeral muscular dystrophy 2 DOID:0111193 Fascioscapulohumeral muscular dystrophy 2, digenic 158901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9385 smg9 56006 SMG9 Heart and brain malformation syndrome 616920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-87 smim1 388588 SMIM1 [Blood group, Vel system] 615264 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-16 smn1 6606 SMN1 adult spinal muscular atrophy DOID:0050529 Spinal muscular atrophy-4 271150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-16 smn1 6606 SMN1 intermediate spinal muscular atrophy DOID:0050530 Spinal muscular atrophy-2 253550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-16 smn1 6606 SMN1 juvenile spinal muscular atrophy DOID:12376 Spinal muscular atrophy-3 253400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990715-16 smn1 6606 SMN1 Werdnig-Hoffmann disease DOID:13137 Spinal muscular atrophy-1 253300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-89 smo 6608 SMO Basal cell carcinoma, somatic 605462 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-89 smo 6608 SMO Curry-Jones syndrome, somatic mosaic 601707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110310-7 smoc1 64093 SMOC1 microphthalmia with limb anomalies DOID:0060861 Microphthalmia with limb anomalies 206920 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021031-5 smoc2 64094 SMOC2 dentin dysplasia DOID:701 Dentin dysplasia, type I, with microdontia and misshapen teeth 125400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-222 smpd1 6609 SMPD1 Niemann-Pick disease type A DOID:0070111 Niemann-Pick disease, type A 257200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-222 smpd1 6609 SMPD1 Niemann-Pick disease type B DOID:0070112 Niemann-Pick disease, type B 607616 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040704-24 smpx 23676 SMPX Deafness, X-linked 4 300066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-150 sms 6611 SMS syndromic X-linked intellectual disability Snyder type DOID:0060802 Mental retardation, X-linked, Snyder-Robinson type 309583 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-6 snai2 6591 SNAI2 piebaldism DOID:3263 Piebaldism 172800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030326-6 snai2 6591 SNAI2 Waardenburg syndrome type 2D DOID:0110952 Waardenburg syndrome, type 2D 608890 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-468 snap25a 6616 SNAP25 congenital myasthenic syndrome 18 DOID:0110683 ?Myasthenic syndrome, congenital, 18 616330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-392 snap25b 6616 SNAP25 congenital myasthenic syndrome 18 DOID:0110683 ?Myasthenic syndrome, congenital, 18 616330 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-226 snap29 9342 SNAP29 CEDNIK syndrome DOID:0060337 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1615 sncb 6620 SNCB Lewy body dementia DOID:12217 Dementia, Lewy body 127750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041026-3 snip1 79753 SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism 614501 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-64 snrnp200 23020 SNRNP200 retinitis pigmentosa 33 DOID:0110366 Retinitis pigmentosa 33 610359 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1112 snrpe 6635 SNRPE hypotrichosis 11 DOID:0110708 Hypotrichosis 11 615059 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120919-5 snta1 6640 SNTA1 long QT syndrome 12 DOID:0110653 Long QT syndrome 12 612955 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-44 snx10a 29887 SNX10 autosomal recessive osteopetrosis 8 DOID:0110940 Osteopetrosis, autosomal recessive 8 615085 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070628-1 snx10b 29887 SNX10 autosomal recessive osteopetrosis 8 DOID:0110940 Osteopetrosis, autosomal recessive 8 615085 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-144 snx14 57231 SNX14 autosomal recessive spinocerebellar ataxia 20 DOID:0080066 Spinocerebellar ataxia, autosomal recessive 20 616354 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-313 sobpa 55084 SOBP Mental retardation, anterior maxillary protrusion, and strabismus 613671 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-8 sobpb 55084 SOBP Mental retardation, anterior maxillary protrusion, and strabismus 613671 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-258 sod1 6647 SOD1 amyotrophic lateral sclerosis type 1 DOID:0060193 Amyotrophic lateral sclerosis 1 105400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7742 sod2 6648 SOD2 {Microvascular complications of diabetes 6} 612634 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050309-208 sod3a 6649 SOD3 [Superoxide dismutase, elevated extracellular] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8743 sod3b 6649 SOD3 [Superoxide dismutase, elevated extracellular] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-161028-1 son 6651 SON ZTTK syndrome 617140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1231 sord 6652 SORD ?Cataract, congenital 182500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2329 sort1a 6272 SORT1 [Low density lipoprotein cholesterol level QTL6] 613589 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7447 sort1b 6272 SORT1 [Low density lipoprotein cholesterol level QTL6] 613589 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-128 sos1 6654 SOS1 gingival fibromatosis DOID:0060466 ?Fibromatosis, gingival, 1 135300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-128 sos1 6654 SOS1 Noonan syndrome 4 DOID:0060582 Noonan syndrome 4 610733 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090319-5 sos2 6655 SOS2 Noonan syndrome 9 DOID:0060587 Noonan syndrome 9 616559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-139 sost 50964 SOST craniometaphyseal dysplasia DOID:0080033 Craniodiaphyseal dysplasia, autosomal dominant 122860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-139 sost 50964 SOST sclerosteosis 1 DOID:0060756 Sclerosteosis 1 269500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-139 sost 50964 SOST SOST-related sclerosing bone dysplasia DOID:0080036 Van Buchem disease 239100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011207-1 sox10 6663 SOX10 PCWH syndrome DOID:0090111 PCWH syndrome 609136 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011207-1 sox10 6663 SOX10 Waardenburg syndrome type 2E DOID:0110956 Waardenburg syndrome, type 2E, with or without neurologic involvement 611584 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011207-1 sox10 6663 SOX10 Waardenburg syndrome type 4C DOID:0110955 Waardenburg syndrome, type 4C 613266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-395 sox11a 6664 SOX11 autosomal dominant non-syndromic intellectual disability 27 DOID:0070057 Coffin-Siris syndrome 9 615866 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-466 sox11b 6664 SOX11 autosomal dominant non-syndromic intellectual disability 27 DOID:0070057 Coffin-Siris syndrome 9 615866 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991213-1 sox17 64321 SOX17 vesicoureteral reflux DOID:9620 Vesicoureteral reflux 3 613674 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080725-1 sox18 54345 SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080725-1 sox18 54345 SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome 607823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-1 sox2 6657 SOX2 microphthalmia DOID:10629 Microphthalmia, syndromic 3 206900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-1 sox2 6657 SOX2 microphthalmia DOID:10629 Optic nerve hypoplasia and abnormalities of the central nervous system 206900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-333 sox3 6658 SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency 300123 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-333 sox3 6658 SOX3 Panhypopituitarism, X-linked 312000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8290 sox4a 6659 SOX4 Coffin-Siris syndrome 10 618506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1274 sox4b 6659 SOX4 Coffin-Siris syndrome 10 618506 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000607-13 sox5 6660 SOX5 Lamb-Shaffer syndrome 616803 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-1 sox9a 6662 SOX9 campomelic dysplasia DOID:0050463 Acampomelic campomelic dysplasia 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-1 sox9a 6662 SOX9 campomelic dysplasia DOID:0050463 Campomelic dysplasia 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-1 sox9a 6662 SOX9 campomelic dysplasia DOID:0050463 Campomelic dysplasia with autosomal sex reversal 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-2 sox9b 6662 SOX9 campomelic dysplasia DOID:0050463 Acampomelic campomelic dysplasia 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-2 sox9b 6662 SOX9 campomelic dysplasia DOID:0050463 Campomelic dysplasia 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001103-2 sox9b 6662 SOX9 campomelic dysplasia DOID:0050463 Campomelic dysplasia with autosomal sex reversal 114290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 3431 SP110 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 3431 SP110 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 11262 SP140 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 11262 SP140 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 93349 SP140L Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-239 sp100.1 93349 SP140L {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 3431 SP110 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 3431 SP110 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 11262 SP140 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 11262 SP140 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 93349 SP140L Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-296 sp100.2 93349 SP140L {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 3431 SP110 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 3431 SP110 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 11262 SP140 Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 11262 SP140 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 93349 SP140L Hepatic venoocclusive disease with immunodeficiency 235550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-997 sp100.3 93349 SP140L {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040629-2 sp7 121340 SP7 osteogenesis imperfecta type 12 DOID:0110348 Osteogenesis imperfecta, type XII 613849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9443 spag1a 6674 SPAG1 primary ciliary dyskinesia 28 DOID:0110607 Ciliary dyskinesia, primary, 28 615505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-512 spag1b 6674 SPAG1 primary ciliary dyskinesia 28 DOID:0110607 Ciliary dyskinesia, primary, 28 615505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9 sparc 6678 SPARC osteogenesis imperfecta type 17 DOID:0110338 Osteogenesis imperfecta, type XVII 616507 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080204-37 sparta 23111 SPART Troyer syndrome DOID:0050886 Troyer syndrome 275900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060825-146 spartb 23111 SPART Troyer syndrome DOID:0050886 Troyer syndrome 275900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2331 spast 6683 SPAST hereditary spastic paraplegia 4 DOID:0110792 Spastic paraplegia 4, autosomal dominant 182601 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111026-1 spata5 166378 SPATA5 Epilepsy, hearing loss, and mental retardation syndrome 616577 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-61 spata7 55812 SPATA7 Leber congenital amaurosis 3 DOID:0110331 Leber congenital amaurosis 3 604232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-61 spata7 55812 SPATA7 Leber congenital amaurosis 3 DOID:0110331 Retinitis pigmentosa, juvenile, autosomal recessive 604232 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-139 specc1la 23384 SPECC1L ?Facial clefting, oblique, 1 600251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-139 specc1la 23384 SPECC1L Hypertelorism, Teebi type 145420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-139 specc1la 23384 SPECC1L Opitz-GBBB syndrome DOID:0050780 Opitz GBBB syndrome, type II 145410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090423-1 specc1lb 23384 SPECC1L ?Facial clefting, oblique, 1 600251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090423-1 specc1lb 23384 SPECC1L Hypertelorism, Teebi type 145420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090423-1 specc1lb 23384 SPECC1L Opitz-GBBB syndrome DOID:0050780 Opitz GBBB syndrome, type II 145410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3230 spega 10290 SPEG centronuclear myopathy 5 DOID:0111222 Centronuclear myopathy 5 615959 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-517 spegb 10290 SPEG centronuclear myopathy 5 DOID:0111222 Centronuclear myopathy 5 615959 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101017-1 spg11 80208 SPG11 amyotrophic lateral sclerosis type 5 DOID:0060197 Amyotrophic lateral sclerosis 5, juvenile 602099 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101017-1 spg11 80208 SPG11 Charcot-Marie-Tooth disease axonal type 2X DOID:0110176 Charcot-Marie-Tooth disease, axonal, type 2X 616668 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-101017-1 spg11 80208 SPG11 hereditary spastic paraplegia 11 DOID:0110764 Spastic paraplegia 11, autosomal recessive 604360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2722 spg21 51324 SPG21 Mast syndrome DOID:0060245 Mast syndrome 248900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5391 spg7 6687 SPG7 hereditary spastic paraplegia 7 DOID:0110816 Spastic paraplegia 7, autosomal recessive 607259 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-972 spink2.1 6691 SPINK2 ?Spermatogenic failure 29 618091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-292 spink2.2 6691 SPINK2 ?Spermatogenic failure 29 618091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-190 spink2.3 6691 SPINK2 ?Spermatogenic failure 29 618091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-194 spink2.4 6691 SPINK2 ?Spermatogenic failure 29 618091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141216-182 spink2.5 6691 SPINK2 ?Spermatogenic failure 29 618091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-323 spint2 10653 SPINT2 congenital secretory sodium diarrhea 3 DOID:0060781 Diarrhea 3, secretory sodium, congenital, syndromic 270420 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5843 spns2 124976 SPNS2 ?Deafness, autosomal recessive 115 618457 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-412 spra 6697 SPR sepiapterin reductase deficiency DOID:0111168 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070719-1 sprb 6697 SPR sepiapterin reductase deficiency DOID:0111168 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2338 spred1 161742 SPRED1 Legius syndrome 611431 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-170317-1 sprtn 83932 SPRTN Ruijs-Aalfs syndrome DOID:0111264 Ruijs-Aalfs syndrome 616200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7038 spry2 10253 SPRY2 {?IgA nephropathy, susceptibility to, 3} 616818 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010803-2 spry4 81848 SPRY4 hypogonadotropic hypogonadism 17 with or without anosmia DOID:0090079 Hypogonadotropic hypogonadism 17 with or without anosmia 615266 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-60 sptan1 6709 SPTAN1 early infantile epileptic encephalopathy 5 DOID:0080438 Epileptic encephalopathy, early infantile, 5 613477 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000906-1 sptb 6710 SPTB Anemia, neonatal hemolytic, fatal or near-fatal 617948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000906-1 sptb 6710 SPTB Elliptocytosis-3 617948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000906-1 sptb 6710 SPTB hereditary spherocytosis type 2 DOID:0110917 Spherocytosis, type 2 616649 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-787 sptbn2 6712 SPTBN2 autosomal recessive spinocerebellar ataxia 14 DOID:0080058 Spinocerebellar ataxia, autosomal recessive 14 615386 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-787 sptbn2 6712 SPTBN2 spinocerebellar ataxia type 5 DOID:0050882 Spinocerebellar ataxia 5 600224 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120720-1 sptbn4 57731 SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 617519 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-61 sptlc1 10558 SPTLC1 hereditary sensory and autonomic neuropathy type 1A DOID:0070152 Neuropathy, hereditary sensory and autonomic, type IA 162400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-23 sptlc2a 9517 SPTLC2 hereditary sensory and autonomic neuropathy type 1C DOID:0070157 Neuropathy, hereditary sensory and autonomic, type IC 613640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080305-8 sptlc2b 9517 SPTLC2 hereditary sensory and autonomic neuropathy type 1C DOID:0070157 Neuropathy, hereditary sensory and autonomic, type IC 613640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2204 sqstm1 8878 SQSTM1 Myopathy, distal, with rimmed vacuoles 617158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2204 sqstm1 8878 SQSTM1 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 617145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2204 sqstm1 8878 SQSTM1 FTDALS3 DOID:0110068 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 616437 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2204 sqstm1 8878 SQSTM1 Paget's disease of bone DOID:5408 Paget disease of bone 3 167250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3809 src 6714 SRC ?Thrombocytopenia 6 616937 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3809 src 6714 SRC colorectal cancer DOID:9256 Colon cancer, advanced, somatic 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-127 srcap 10847 SRCAP Floating-Harbor syndrome 136140 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-199 srd5a2a 6716 SRD5A2 Pseudovaginal perineoscrotal hypospadias 264600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-182 srd5a2b 6716 SRD5A2 Pseudovaginal perineoscrotal hypospadias 264600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7915 srd5a3 79644 SRD5A3 congenital disorder of glycosylation Iq DOID:0080568 Congenital disorder of glycosylation, type Iq 612379 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7915 srd5a3 79644 SRD5A3 Kahrizi syndrome DOID:0050807 Kahrizi syndrome 612713 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050420-284 srgap1a 57522 SRGAP1 thyroid gland follicular carcinoma DOID:3962 {Thyroid cancer, nonmedullary, 2} 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041210-103 srgap1b 57522 SRGAP1 thyroid gland follicular carcinoma DOID:3962 {Thyroid cancer, nonmedullary, 2} 188470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5546 srp72 6731 SRP72 Bone marrow failure syndrome 1 614675 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-231 srpx2 27286 SRPX2 ?Rolandic epilepsy, mental retardation, and speech dyspraxia 300643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4867 ss18 6760 SS18 Sarcoma, synovial ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4900 ssr4 6748 SSR4 congenital disorder of glycosylation Iy DOID:0080574 Congenital disorder of glycosylation, type Iy 300934 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2502 sstr5 6755 SSTR5 Somatostatin analog, resistance to ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6496 st14a 6768 ST14 autosomal recessive congenital ichthyosis 11 DOID:0060720 Ichthyosis, congenital, autosomal recessive 11 602400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-613 st14b 6768 ST14 autosomal recessive congenital ichthyosis 11 DOID:0060720 Ichthyosis, congenital, autosomal recessive 11 602400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1322 st3gal3a 6487 ST3GAL3 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 12 611090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1322 st3gal3a 6487 ST3GAL3 early infantile epileptic encephalopathy 15 DOID:0080414 ?Epileptic encephalopathy, early infantile, 15 615006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-13 st3gal3b 6487 ST3GAL3 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 12 611090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050411-13 st3gal3b 6487 ST3GAL3 early infantile epileptic encephalopathy 15 DOID:0080414 ?Epileptic encephalopathy, early infantile, 15 615006 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060322-1 st3gal5 8869 ST3GAL5 Salt and pepper developmental regression syndrome 609056 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-248 stac3 246329 STAC3 Native American myopathy DOID:0060346 Myopathy, congenital, Baily-Bloch 255995 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-448 stag1a 10274 STAG1 autosomal dominant mental retardation 47 DOID:0080238 Mental retardation, autosomal dominant 47 617635 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1393 stag1b 10274 STAG1 autosomal dominant mental retardation 47 DOID:0080238 Mental retardation, autosomal dominant 47 617635 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3432 stag2a 10735 STAG2 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities 301022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2785 stag2b 10735 STAG2 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities 301022 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-130 stag3 10734 STAG3 premature ovarian failure DOID:5426 Premature ovarian failure 8 615723 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1551 stambpa 10617 STAMBP Microcephaly-capillary malformation syndrome 614261 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001120-3 star 6770 STAR congenital adrenal hyperplasia DOID:0050811 Lipoid adrenal hyperplasia 201710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-499 stat1a 6772 STAT1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-499 stat1a 6772 STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-499 stat1a 6772 STAT1 chronic mucocutaneous candidiasis DOID:2058 Immunodeficiency 31C, autosomal dominant 614162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-23 stat1b 6772 STAT1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-23 stat1b 6772 STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-23 stat1b 6772 STAT1 chronic mucocutaneous candidiasis DOID:2058 Immunodeficiency 31C, autosomal dominant 614162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080321-1 stat2 6773 STAT2 Immunodeficiency 44 616636 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-68 stat3 6774 STAT3 Autoimmune disease, multisystem, infantile-onset, 1 615952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-68 stat3 6774 STAT3 hyper IgE recurrent infection syndrome 1 DOID:3261 Hyper-IgE recurrent infection syndrome 147060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-264 stat4 6775 STAT4 {Systemic lupus erythematosus, susceptibility to, 11} 612253 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-2 stat5a 6776 STAT5A Growth hormone insensitivity with immunodeficiency 245590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-2 stat5a 6776 STAT5A Leukemia, acute promyelocytic, somatic 102578 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-2 stat5a 6777 STAT5B Growth hormone insensitivity with immunodeficiency 245590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-2 stat5a 6777 STAT5B Leukemia, acute promyelocytic, somatic 102578 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040818-1 stat5b 6776 STAT5A Growth hormone insensitivity with immunodeficiency 245590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040818-1 stat5b 6776 STAT5A Leukemia, acute promyelocytic, somatic 102578 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040818-1 stat5b 6777 STAT5B Growth hormone insensitivity with immunodeficiency 245590 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040818-1 stat5b 6777 STAT5B Leukemia, acute promyelocytic, somatic 102578 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-268 steap3 55240 STEAP3 hypochromic microcytic anemia DOID:0050642 ?Anemia, hypochromic microcytic, with iron overload 2 615234 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020419-39 stil 6491 STIL primary autosomal recessive microcephaly 7 DOID:0070278 Microcephaly 7, primary, autosomal recessive 612703 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-914 stim1a 6786 STIM1 Immunodeficiency 10 612783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-914 stim1a 6786 STIM1 Stormorken syndrome DOID:0060354 Stormorken syndrome 185070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-914 stim1a 6786 STIM1 tubular aggregate myopathy DOID:0080089 Myopathy, tubular aggregate, 1 160565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-4 stim1b 6786 STIM1 Immunodeficiency 10 612783 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-4 stim1b 6786 STIM1 Stormorken syndrome DOID:0060354 Stormorken syndrome 185070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-4 stim1b 6786 STIM1 tubular aggregate myopathy DOID:0080089 Myopathy, tubular aggregate, 1 160565 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120921-1 sting1 340061 STING1 STING-associated vasculopathy, infantile-onset 615934 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-383 stk11 6794 STK11 Melanoma, malignant, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-383 stk11 6794 STK11 pancreatic carcinoma DOID:4905 Pancreatic cancer, somatic 260350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-383 stk11 6794 STK11 Peutz-Jeghers syndrome DOID:3852 Peutz-Jeghers syndrome 175200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-383 stk11 6794 STK11 testicular germ cell cancer DOID:5557 Testicular tumor, somatic 273300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1390 stn1 79991 STN1 Cerebroretinal microangiopathy with calcifications and cysts 2 617341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030925-2 stox1 219736 STOX1 pre-eclampsia DOID:10591 Preeclampsia/eclampsia 4 609404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-252 stra6 64220 STRA6 Matthew-Wood syndrome DOID:0050819 Microphthalmia, isolated, with coloboma 8 601186 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060616-252 stra6 64220 STRA6 Matthew-Wood syndrome DOID:0050819 Microphthalmia, syndromic 9 601186 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6482 strada 92335 STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030717-5 sts 412 STS X-linked ichthyosis DOID:1700 Ichthyosis, X-linked 308100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021015-3 stt3a 3703 STT3A congenital disorder of glycosylation Iw DOID:0080572 ?Congenital disorder of glycosylation, type Iw 615596 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2638 stt3b 201595 STT3B congenital disorder of glycosylation Ix DOID:0080573 ?Congenital disorder of glycosylation, type Ix 615597 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2963 stub1 10273 STUB1 ?Spinocerebellar ataxia 48 618093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2963 stub1 10273 STUB1 autosomal recessive spinocerebellar ataxia 16 DOID:0080029 Spinocerebellar ataxia, autosomal recessive 16 615768 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2564 stx11a 8676 STX11 familial hemophagocytic lymphohistiocytosis 4 DOID:0110924 Hemophagocytic lymphohistiocytosis, familial, 4 603552 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1893 stx11b.1 8676 STX11 familial hemophagocytic lymphohistiocytosis 4 DOID:0110924 Hemophagocytic lymphohistiocytosis, familial, 4 603552 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-148 stx11b.2 8676 STX11 familial hemophagocytic lymphohistiocytosis 4 DOID:0110924 Hemophagocytic lymphohistiocytosis, familial, 4 603552 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-113 stx16 8675 STX16 pseudohypoparathyroidism type IB DOID:0080222 Pseudohypoparathyroidism, type IB 603233 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000330-4 stx1b 112755 STX1B generalized epilepsy with febrile seizures plus 9 DOID:0111301 Generalized epilepsy with febrile seizures plus, type 9 616172 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-106 stxbp1a 6812 STXBP1 early infantile epileptic encephalopathy 4 DOID:0080436 Epileptic encephalopathy, early infantile, 4 612164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-166 stxbp1b 6812 STXBP1 early infantile epileptic encephalopathy 4 DOID:0080436 Epileptic encephalopathy, early infantile, 4 612164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2482 stxbp2 6813 STXBP2 familial hemophagocytic lymphohistiocytosis 5 DOID:0110925 Hemophagocytic lymphohistiocytosis, familial, 5 613101 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1963 sucla2 8803 SUCLA2 mitochondrial DNA depletion syndrome 5 DOID:0080124 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-101 suclg1 8802 SUCLG1 mitochondrial DNA depletion syndrome 9 DOID:0080128 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 245400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6223 sufu 51684 SUFU {Meningioma, familial, susceptibility to} 607174 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6223 sufu 51684 SUFU Joubert syndrome 32 DOID:0080278 Joubert syndrome 32 617757 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6223 sufu 51684 SUFU medulloblastoma DOID:0050902 Medulloblastoma, desmoplastic 155255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6223 sufu 51684 SUFU nevoid basal cell carcinoma syndrome DOID:2512 Basal cell nevus syndrome 109400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-18 sugct 79783 SUGCT Glutaric aciduria III 231690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060421-3113 sumf1 285362 SUMF1 mucosulfatidosis DOID:0050441 Multiple sulfatase deficiency 272200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2186 sumo1 7341 SUMO1 orofacial cleft 10 DOID:0080403 ?Orofacial cleft 10 613705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-3 suox 6821 SUOX isolated sulfite oxidase deficiency DOID:0111270 Sulfite oxidase deficiency 272300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041108-2 surf1 6834 SURF1 Charcot-Marie-Tooth disease type 4K DOID:0110187 Charcot-Marie-Tooth disease, type 4K 616684 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041108-2 surf1 6834 SURF1 Leigh disease DOID:3652 Leigh syndrome, due to COX IV deficiency 256000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-191 svbp 374969 SVBP Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 618569 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040910-2 sycp3 50511 SYCP3 spermatogenic failure 4 DOID:0070176 Pregnancy loss, recurrent, 4 270960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040910-2 sycp3 50511 SYCP3 spermatogenic failure 4 DOID:0070176 Spermatogenic failure 4 270960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081105-93 syn1 6853 SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-341 syn2a 6854 SYN2 schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051127-49 syn2b 6854 SYN2 schizophrenia DOID:5419 {Schizophrenia, susceptibility to} 181500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4172 syne1a 23345 SYNE1 Arthrogryposis multiplex congenita, myogenic type 618484 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4172 syne1a 23345 SYNE1 Spinocerebellar ataxia, autosomal recessive 8 610743 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4172 syne1a 23345 SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy 4 DOID:0070249 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-4 syne1b 23345 SYNE1 Arthrogryposis multiplex congenita, myogenic type 618484 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-4 syne1b 23345 SYNE1 Spinocerebellar ataxia, autosomal recessive 8 610743 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-4 syne1b 23345 SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy 4 DOID:0070249 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041001-109 syne2a 23224 SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy 5 DOID:0070250 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071218-5 syne2b 23224 SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy 5 DOID:0070250 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-370 syngap1a 8831 SYNGAP1 autosomal dominant non-syndromic intellectual disability 5 DOID:0070035 Mental retardation, autosomal dominant 5 612621 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100921-2 syngap1b 8831 SYNGAP1 autosomal dominant non-syndromic intellectual disability 5 DOID:0070035 Mental retardation, autosomal dominant 5 612621 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9180 synj1 8867 SYNJ1 early infantile epileptic encephalopathy 53 DOID:0080464 Epileptic encephalopathy, early infantile, 53 617389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9180 synj1 8867 SYNJ1 Parkinson's disease 20 DOID:0060898 Parkinson disease 20, early-onset 615530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031104-2 sypa 6855 SYP non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 96 300802 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-205 sypb 6855 SYP non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 96 300802 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-200 syt14a 255928 SYT14 autosomal recessive spinocerebellar ataxia 11 DOID:0080063 ?Spinocerebellar ataxia, autosomal recessive 11 614229 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-165 syt1a 6857 SYT1 Baker-Gordon syndrome 618218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-166 syt1b 6857 SYT1 Baker-Gordon syndrome 618218 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-315 syt2a 127833 SYT2 congenital myasthenic syndrome 7 DOID:0110659 Myasthenic syndrome, congenital, 7, presynaptic 616040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090717-1 syt2b 127833 SYT2 congenital myasthenic syndrome 7 DOID:0110659 Myasthenic syndrome, congenital, 7, presynaptic 616040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-830 szt2 23334 SZT2 early infantile epileptic encephalopathy 18 DOID:0080413 Epileptic encephalopathy, early infantile, 18 615476 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-933 tab2 23118 TAB2 Congenital heart defects, nonsyndromic, 2 614980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-253 tac3a 6866 TAC3 hypogonadotropic hypogonadism 10 with or without anosmia DOID:0090089 Hypogonadotropic hypogonadism 10 with or without anosmia 614839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120716-1 tac3b 6866 TAC3 hypogonadotropic hypogonadism 10 with or without anosmia DOID:0090089 Hypogonadotropic hypogonadism 10 with or without anosmia 614839 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070410-35 taco1 51204 TACO1 cytochrome-c oxidase deficiency disease DOID:3762 Mitochondrial complex IV deficiency 220110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-106 tacr3a 6870 TACR3 hypogonadotropic hypogonadism 11 with or without anosmia DOID:0090071 Hypogonadotropic hypogonadism 11 with or without anosmia 614840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120719-1 tacr3b 6870 TACR3 hypogonadotropic hypogonadism 11 with or without anosmia DOID:0090071 Hypogonadotropic hypogonadism 11 with or without anosmia 614840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-19 tacr3l 6870 TACR3 hypogonadotropic hypogonadism 11 with or without anosmia DOID:0090071 Hypogonadotropic hypogonadism 11 with or without anosmia 614840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5576 taf1 6872 TAF1 Mental retardation, X-linked, syndromic 33 300966 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5576 taf1 6872 TAF1 X-linked dystonia-parkinsonism DOID:0090057 Dystonia-Parkinsonism, X-linked 314250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2873 taf13 6884 TAF13 Mental retardation, autosomal recessive 60 617432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-102 taf15 8148 TAF15 extraskeletal myxoid chondrosarcoma DOID:6496 Chondrosarcoma, extraskeletal myxoid 612237 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3207 taf2 6873 TAF2 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 40 615599 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-105 taf4b 6875 TAF4B spermatogenic failure 13 DOID:0070182 ?Spermatogenic failure 13 615841 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-23 taf6 6878 TAF6 Alazami-Yuan syndrome 617126 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-501 tal1 6886 TAL1 acute lymphocytic leukemia DOID:9952 Leukemia, T-cell acute lymphocytic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040115-1 tal2 6887 TAL2 acute lymphocytic leukemia DOID:9952 Leukemia, T-cell acute lymphocytic, somatic 613065 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3277 taldo1 6888 TALDO1 Transaldolase deficiency 606003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040808-42 tango2 128989 TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050517-43 tap1 6890 TAP1 MHC class I deficiency DOID:0060009 Bare lymphocyte syndrome, type I 604571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-260 tap2c 6891 TAP2 MHC class I deficiency DOID:0060009 Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010110-2 tapbp.1 6892 TAPBP MHC class I deficiency DOID:0060009 Bare lymphocyte syndrome, type I 604571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-136 tapbp.2 6892 TAPBP MHC class I deficiency DOID:0060009 Bare lymphocyte syndrome, type I 604571 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131017-2 tapt1a 202018 TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4025 tapt1b 202018 TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3777 tardbp 23435 TARDBP amyotrophic lateral sclerosis type 10 DOID:0060201 Amyotrophic lateral sclerosis 10, with or without FTD 612069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3777 tardbp 23435 TARDBP amyotrophic lateral sclerosis type 10 DOID:0060201 Frontotemporal lobar degeneration, TARDBP-related 612069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-218 tars1 6897 TARS1 Trichothiodystrophy 7, nonphotosensitive 618546 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070815-3 tars2 80222 TARS2 combined oxidative phosphorylation deficiency DOID:0060286 ?Combined oxidative phosphorylation deficiency 21 615918 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1144 tat 6898 TAT tyrosinemia type II DOID:0050725 Tyrosinemia, type II 276600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-684 taz 6901 TAZ Barth syndrome DOID:0050476 Barth syndrome 302060 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050626-61 tbc1d20 128637 TBC1D20 Warburg micro syndrome 4 DOID:0110719 Warburg micro syndrome 4 615663 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1253 tbc1d23 55773 TBC1D23 Pontocerebellar hypoplasia, type 11 617695 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 DOORS syndrome 220500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 608105 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 Myoclonic epilepsy, infantile, familial 605021 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 autosomal dominant nonsyndromic deafness 65 DOID:0110586 Deafness, autosomal dominant 65 616044 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 autosomal recessive nonsyndromic deafness 86 DOID:0110532 Deafness , autosomal recessive 86 614617 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-65 tbc1d24 57465 TBC1D24 early infantile epileptic encephalopathy 16 DOID:0080449 Epileptic encephalopathy, early infantile, 16 615338 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9881 tbc1d4 9882 TBC1D4 {Diabetes mellitus, noninsulin-dependent, 5} 616087 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1747 tbc1d7 51256 TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive 248000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3135 tbc1d8b 54885 TBC1D8B Nephrotic syndrome, type 20 301028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060823-1 tbcd 6904 TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 617193 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-120 tbce 6905 TBCE Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-120 tbce 6905 TBCE Kenny-Caffey syndrome, type 1 244460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051030-120 tbce 6905 TBCE hypoparathyroidism-retardation-dysmorphism syndrome DOID:0060348 Hypoparathyroidism-retardation-dysmorphism syndrome 241410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1062 tbck 93627 TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-359 tbk1 29110 TBK1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060512-359 tbk1 29110 TBK1 FTDALS4 DOID:0110069 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 616439 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-131 tbl1x 6907 TBL1X ?Deafness, Y-linked 2 400047 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-131 tbl1x 90665 TBL1Y ?Deafness, Y-linked 2 400047 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-314 tbl1xr1a 79718 TBL1XR1 Pierpont syndrome 602342 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-314 tbl1xr1a 79718 TBL1XR1 autosomal dominant non-syndromic intellectual disability 41 DOID:0070071 Mental retardation, autosomal dominant 41 616944 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1192 tbl1xr1b 79718 TBL1XR1 Pierpont syndrome 602342 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1192 tbl1xr1b 79718 TBL1XR1 autosomal dominant non-syndromic intellectual disability 41 DOID:0070071 Mental retardation, autosomal dominant 41 616944 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-563 tbp 6908 TBP late onset Parkinson's disease DOID:0060892 {Parkinson disease, susceptibility to} 168600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-563 tbp 6908 TBP spinocerebellar ataxia type 17 DOID:0050967 Spinocerebellar ataxia 17 607136 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-93 tbr1a 10716 TBR1 Intellectual developmental disorder with autism and speech delay 606053 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000323-1 tbr1b 10716 TBR1 Intellectual developmental disorder with autism and speech delay 606053 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-5 tbx1 6899 TBX1 DiGeorge syndrome DOID:11198 DiGeorge syndrome 188400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-5 tbx1 6899 TBX1 double outlet right ventricle DOID:6406 Conotruncal anomaly face syndrome 217095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-5 tbx1 6899 TBX1 tetralogy of Fallot DOID:6419 Tetralogy of Fallot 187500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030805-5 tbx1 6899 TBX1 velocardiofacial syndrome DOID:12583 Velocardiofacial syndrome 192430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020529-1 tbx15 6913 TBX15 Cousin syndrome 260660 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-171 tbx16l 6911 TBX6 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 5 122600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020529-2 tbx18 9096 TBX18 CAKUT2 DOID:0080207 Congenital anomalies of kidney and urinary tract 2 143400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-5 tbx19 9095 TBX19 adrenocorticotropic hormone deficiency DOID:0080150 Adrenocorticotropic hormone deficiency 201400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000427-7 tbx20 57057 TBX20 atrial heart septal defect 4 DOID:0110109 Atrial septal defect 4 611363 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-3 tbx21 30009 TBX21 Asthma and nasal polyps 208550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080104-3 tbx21 30009 TBX21 {Asthma, aspirin-induced, susceptibility to} 208550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090626-2 tbx22 50945 TBX22 ?Abruzzo-Erickson syndrome 302905 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090626-2 tbx22 50945 TBX22 X-linked cleft palate with or without ankyloglossia DOID:0060613 Cleft palate with ankyloglossia 303400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990917-4 tbx2a 6909 TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction 618223 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990726-27 tbx2b 6909 TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction 618223 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070209-80 tbx3a 6926 TBX3 ulnar-mammary syndrome DOID:0060614 Ulnar-mammary syndrome 181450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060531-144 tbx3b 6926 TBX3 ulnar-mammary syndrome DOID:0060614 Ulnar-mammary syndrome 181450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991124-5 tbx4 9496 TBX4 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 147891 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991124-7 tbx5a 6910 TBX5 Holt-Oram syndrome DOID:0060468 Holt-Oram syndrome 142900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060601-2 tbx5b 6910 TBX5 Holt-Oram syndrome DOID:0060468 Holt-Oram syndrome 142900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020416-5 tbx6 6911 TBX6 spondylocostal dysostosis DOID:0050568 Spondylocostal dysostosis 5 122600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131016-6 tbxa2r 6915 TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to} 614009 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8805 tbxas1 6916 TBXAS1 Ghosal hematodiaphyseal syndrome 231095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8805 tbxas1 6916 TBXAS1 platelet-type bleeding disorder 14 DOID:0111047 ?Thromboxane synthase deficiency 614158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-437 tbxta 6862 TBXT {Neural tube defects, susceptibility to} 182940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-437 tbxta 6862 TBXT Sacral agenesis with vertebral anomalies 615709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081028-48 tbxtb 6862 TBXT {Neural tube defects, susceptibility to} 182940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081028-48 tbxtb 6862 TBXT Sacral agenesis with vertebral anomalies 615709 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-5 tcap 8557 TCAP autosomal recessive limb-girdle muscular dystrophy type 2G DOID:0110281 Muscular dystrophy, limb-girdle, autosomal recessive 7 601954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070501-5 tcap 8557 TCAP hypertrophic cardiomyopathy 25 DOID:0110328 Cardiomyopathy, hypertrophic, 25 607487 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040516-11 tcf12 6938 TCF12 craniosynostosis DOID:2340 Craniosynostosis 3 615314 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-97 tcf20 6942 TCF20 Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-51 tcf3a 6929 TCF3 Agammaglobulinemia 8, autosomal dominant 616941 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-64 tcf3b 6929 TCF3 Agammaglobulinemia 8, autosomal dominant 616941 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090814-1 tcf4 6925 TCF4 Fuchs' endothelial dystrophy DOID:11555 Corneal dystrophy, Fuchs endothelial, 3 613267 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090814-1 tcf4 6925 TCF4 Pitt-Hopkins syndrome DOID:0060488 Pitt-Hopkins syndrome 610954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991110-8 tcf7l2 6934 TCF7L2 type 2 diabetes mellitus DOID:9352 {Diabetes mellitus, type 2, susceptibility to} 125853 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090311-31 tcirg1a 10312 TCIRG1 autosomal recessive osteopetrosis 1 DOID:0110942 Osteopetrosis, autosomal recessive 1 259700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2022 tcirg1b 10312 TCIRG1 autosomal recessive osteopetrosis 1 DOID:0110942 Osteopetrosis, autosomal recessive 1 259700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4648 tcn2 6948 TCN2 transcobalamin II deficiency DOID:0050818 Transcobalamin II deficiency 275350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-219 tctex1d2 255758 TCTEX1D2 Short-rib thoracic dysplasia 17 with or without polydactyly 617405 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-157 tctn1 79600 TCTN1 Joubert syndrome 13 DOID:0110982 Joubert syndrome 13 614173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-751 tctn2 79867 TCTN2 Joubert syndrome 24 DOID:0110993 Joubert syndrome 24 616654 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-751 tctn2 79867 TCTN2 Meckel syndrome 8 DOID:0070122 ?Meckel syndrome 8 613885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-198 tdgf1 6997 TDGF1 Forebrain defects ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1187 tdo2a 6999 TDO2 [?Hypertryptophanemia] 600627 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090909-1 tdp1 55775 TDP1 spinocerebellar ataxia type 1 with axonal neuropathy DOID:0090115 ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 607250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110218-1 tdp2a 51567 TDP2 Spinocerebellar ataxia, autosomal recessive 23 616949 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050816-1 tdp2b 51567 TDP2 Spinocerebellar ataxia, autosomal recessive 23 616949 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2103 tdrd7a 23424 TDRD7 cataract 36 DOID:0110247 Cataract 36 613887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150109-14 tdrd7b 23424 TDRD7 cataract 36 DOID:0110247 Cataract 36 613887 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-193 tdrd9 122402 TDRD9 ?Spermatogenic failure 30 618110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2101 tead1a 7003 TEAD1 Sveinsson chorioretinal atrophy DOID:0111228 Sveinsson chorioretinal atrophy 108985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091013-5 tead1b 7003 TEAD1 Sveinsson chorioretinal atrophy DOID:0111228 Sveinsson chorioretinal atrophy 108985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-358 tecpr2 9895 TECPR2 hereditary spastic paraplegia 49 DOID:0110801 Spastic paraplegia 49, autosomal recessive 615031 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090930-1 tecra 9524 TECR autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 14 614020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5154 tecrb 9524 TECR autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 14 614020 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-120 tecta 7007 TECTA autosomal dominant nonsyndromic deafness 12 DOID:0110544 Deafness, autosomal dominant 8/12 601543 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-120 tecta 7007 TECTA autosomal recessive nonsyndromic deafness 21 DOID:0110479 Deafness, autosomal recessive 21 603629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-56 tek 7010 TEK Glaucoma 3, primary congenital, E 617272 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-56 tek 7010 TEK multiple cutaneous and mucosal venous malformations DOID:0050792 Venous malformations, multiple cutaneous and mucosal 600195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-523 telo2 9894 TELO2 You-Hoover-Fong syndrome 616954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-19 tenm3 55714 TENM3 ?Microphthalmia, isolated, with coloboma 9 615145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-19 tenm3 55714 TENM3 Microphthalmia, syndromic 15 615145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990714-20 tenm4 26011 TENM4 Essential tremor, hereditary, 5 616736 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-27 tent5aa 55603 TENT5A Osteogenesis imperfecta, type XVIII 617952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071004-35 tent5ab 55603 TENT5A Osteogenesis imperfecta, type XVIII 617952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080405-1 tert 7015 TERT {Melanoma, cutaneous malignant, 9} 615134 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080405-1 tert 7015 TERT {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} 614742 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080405-1 tert 7015 TERT acute myeloid leukemia DOID:9119 {Leukemia, acute myeloid} 601626 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080405-1 tert 7015 TERT autosomal dominant dyskeratosis congenita 2 DOID:0070016 {Dyskeratosis congenita, autosomal dominant 2} 613989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080405-1 tert 7015 TERT autosomal dominant dyskeratosis congenita 2 DOID:0070016 {Dyskeratosis congenita, autosomal recessive 4} 613989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-98 tet2 54790 TET2 myelodysplastic syndrome DOID:0050908 Myelodysplastic syndrome, somatic 614286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140415-1 tex11 56159 TEX11 X-linked spermatogenic failure 2 DOID:0070185 Spermatogenic failure, X-linked, 2 309120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150326-1 tex14 56155 TEX14 spermatogenic failure 23 DOID:0070181 ?Spermatogenic failure 23 617707 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-395 tex15 56154 TEX15 Spermatogenic failure 25 617960 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-35 tfa 7018 TF atransferrinemia DOID:0050649 Atransferrinemia 209300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-552 tfam 7019 TFAM mitochondrial DNA depletion syndrome 15 DOID:0080337 ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 617156 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-6 tfap2a 7020 TFAP2A branchiooculofacial syndrome DOID:0050691 Branchiooculofacial syndrome 113620 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-394 tfap2b 7021 TFAP2B Patent ductus arteriosus 2 617035 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-394 tfap2b 7021 TFAP2B Char syndrome DOID:0060563 Char syndrome 169100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-2 tfe3a 7030 TFE3 renal cell carcinoma DOID:4450 Renal cell carcinoma, papillary, 1 300854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010919-3 tfe3b 7030 TFE3 renal cell carcinoma DOID:4450 Renal cell carcinoma, papillary, 1 300854 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8410 tfg 10342 TFG Charcot-Marie-Tooth disease type 2 DOID:0050539 Hereditary motor and sensory neuropathy, Okinawa type 604484 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8410 tfg 10342 TFG hereditary spastic paraplegia 57 DOID:0110809 ?Spastic paraplegia 57, autosomal recessive 615658 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041220-1 tfr1a 7037 TFRC Immunodeficiency 46 616740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041220-2 tfr1b 7037 TFRC Immunodeficiency 46 616740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041220-3 tfr2 7036 TFR2 hemochromatosis type 3 DOID:0111030 Hemochromatosis, type 3 604250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030519-1 tg 7038 TG {Autoimmune thyroid disease, susceptibility to, 3} 608175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030519-1 tg 7038 TG Thyroid dyshormonogenesis 3 274700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5718 tgds 23483 TGDS Catel-Manzke syndrome 616145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030618-1 tgfb1a 7040 TGFB1 Inflammatory bowel disease, immunodeficiency, and encephalopathy 618213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030618-1 tgfb1a 7040 TGFB1 Camurati-Engelmann disease DOID:4997 Camurati-Engelmann disease 131300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030618-1 tgfb1a 7040 TGFB1 cystic fibrosis DOID:1485 {Cystic fibrosis lung disease, modifier of} 219700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091028-1 tgfb1b 7040 TGFB1 Inflammatory bowel disease, immunodeficiency, and encephalopathy 618213 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091028-1 tgfb1b 7040 TGFB1 Camurati-Engelmann disease DOID:4997 Camurati-Engelmann disease 131300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091028-1 tgfb1b 7040 TGFB1 cystic fibrosis DOID:1485 {Cystic fibrosis lung disease, modifier of} 219700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-3 tgfb2 7042 TGFB2 Loeys-Dietz syndrome 4 DOID:0070233 Loeys-Dietz syndrome 4 614816 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-4 tgfb3 7043 TGFB3 arrhythmogenic right ventricular dysplasia 1 DOID:0110070 Arrhythmogenic right ventricular dysplasia 1 107970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030723-4 tgfb3 7043 TGFB3 Loeys-Dietz syndrome 5 DOID:0070236 Loeys-Dietz syndrome 5 615582 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI Corneal dystrophy, lattice type IIIA 608471 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI epithelial basement membrane dystrophy DOID:0060447 Corneal dystrophy, epithelial basement membrane 121820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI granular corneal dystrophy 1 DOID:0080530 Corneal dystrophy, Groenouw type I 121900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI granular corneal dystrophy 2 DOID:0060444 Corneal dystrophy, Avellino type 607541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI lattice corneal dystrophy DOID:8943 Corneal dystrophy, lattice type I 122200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI Reis-Bucklers corneal dystrophy DOID:0060453 Corneal dystrophy, Reis-Bucklers type 608470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-73 tgfbi 7045 TGFBI Thiel-Behnke corneal dystrophy DOID:0060455 Corneal dystrophy, Thiel-Behnke type 602082 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-75 tgfbr1a 7046 TGFBR1 {Multiple self-healing squamous epithelioma, susceptibility to} 132800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051120-75 tgfbr1a 7046 TGFBR1 Loeys-Dietz syndrome 1 DOID:0070235 Loeys-Dietz syndrome 1 609192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091027-1 tgfbr1b 7046 TGFBR1 {Multiple self-healing squamous epithelioma, susceptibility to} 132800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091027-1 tgfbr1b 7046 TGFBR1 Loeys-Dietz syndrome 1 DOID:0070235 Loeys-Dietz syndrome 1 609192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120404-1 tgfbr2a 7048 TGFBR2 esophageal cancer DOID:5041 Esophageal cancer, somatic 133239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120404-1 tgfbr2a 7048 TGFBR2 hereditary nonpolyposis colorectal cancer type 6 DOID:0070273 Colorectal cancer, hereditary nonpolyposis, type 6 614331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120404-1 tgfbr2a 7048 TGFBR2 Loeys-Dietz syndrome 2 DOID:0070234 Loeys-Dietz syndrome 2 610168 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-375 tgfbr2b 7048 TGFBR2 esophageal cancer DOID:5041 Esophageal cancer, somatic 133239 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-375 tgfbr2b 7048 TGFBR2 hereditary nonpolyposis colorectal cancer type 6 DOID:0070273 Colorectal cancer, hereditary nonpolyposis, type 6 614331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-375 tgfbr2b 7048 TGFBR2 Loeys-Dietz syndrome 2 DOID:0070234 Loeys-Dietz syndrome 2 610168 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-475 tgif1 7050 TGIF1 holoprosencephaly 4 DOID:0110880 Holoprosencephaly 4 142946 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9032 tgm1 7051 TGM1 autosomal recessive congenital ichthyosis 1 DOID:0060656 Ichthyosis, congenital, autosomal recessive 1 242300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990621-5 th 7054 TH Segawa syndrome, recessive 605407 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060519-9 thap1 55145 THAP1 torsion dystonia 6 DOID:0090039 Dystonia 6, torsion 602629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-281 thbd 7056 THBD {Hemolytic uremic syndrome, atypical, susceptibility to, 6} 612926 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-281 thbd 7056 THBD thrombophilia DOID:2452 Thrombophilia due to thrombomodulin defect 614486 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020708-2 thbs2a 7058 THBS2 {Lumbar disc herniation, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100623-1 thbs2b 7058 THBS2 {Lumbar disc herniation, susceptibility to} 603932 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-54 thoc2 57187 THOC2 Mental retardation, X-linked 12/35 300957 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-198 thoc6 79228 THOC6 Beaulieu-Boycott-Innes syndrome 613680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110510-1 thpo 7066 THPO essential thrombocythemia DOID:2224 Thrombocythemia 1 187950 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-263 thraa 7067 THRA congenital nongoitrous hypothyroidism 6 DOID:0070128 Hypothyroidism, congenital, nongoitrous, 6 614450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060613-1 thrab 7067 THRA congenital nongoitrous hypothyroidism 6 DOID:0070128 Hypothyroidism, congenital, nongoitrous, 6 614450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-268 thrb 7068 THRB Thyroid hormone resistance, selective pituitary 145650 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-268 thrb 7068 THRB thyroid hormone resistance syndrome DOID:11633 Thyroid hormone resistance 188570 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-268 thrb 7068 THRB thyroid hormone resistance syndrome DOID:11633 Thyroid hormone resistance, autosomal recessive 274300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1506 tia1 7072 TIA1 Welander distal myopathy 604454 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-2 ticam1 148022 TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6} 614850 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1618 timm50 92609 TIMM50 3-methylglutaconic aciduria type 9 DOID:0070002 3-methylglutaconic aciduria, type IX 617698 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-158 timm8a 1678 TIMM8A deafness-dystonia-optic neuronopathy syndrome DOID:0050757 Mohr-Tranebjaerg syndrome 304700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-369 timmdc1 51300 TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31 618251 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070824-3 timp3 7078 TIMP3 Sorsby's fundus dystrophy DOID:0090114 Sorsby fundus dystrophy 136900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6168 tinf2 26277 TINF2 autosomal dominant dyskeratosis congenita 3 DOID:0070018 Dyskeratosis congenita, autosomal dominant 3 613990 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6168 tinf2 26277 TINF2 Revesz syndrome DOID:0070026 Revesz syndrome 268130 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-4 tirap 114609 TIRAP {Bacteremia, protection against} 614382 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-4 tirap 114609 TIRAP {Malaria, protection against} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-4 tirap 114609 TIRAP {Pneumococcal disease, invasive, protection against} 610799 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-4 tirap 114609 TIRAP {Tuberculosis, protection against} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070925-2 tjp2a 9414 TJP2 Hypercholanemia, familial 607748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070925-2 tjp2a 9414 TJP2 progressive familial intrahepatic cholestasis 4 DOID:0070224 Cholestasis, progressive familial intrahepatic 4 615878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-58 tjp2b 9414 TJP2 Hypercholanemia, familial 607748 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-58 tjp2b 9414 TJP2 progressive familial intrahepatic cholestasis 4 DOID:0070224 Cholestasis, progressive familial intrahepatic 4 615878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-243 tk2 7084 TK2 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-243 tk2 7084 TK2 mitochondrial DNA depletion syndrome 2 DOID:0080120 Mitochondrial DNA depletion syndrome 2 (myopathic type) 609560 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-578 tkta 7086 TKT Short stature, developmental delay, and congenital heart defects 617044 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030909-13 tktb 7086 TKT Short stature, developmental delay, and congenital heart defects 617044 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060623-36 tlk2 11011 TLK2 Mental retardation, autosomal dominant 57 618050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041020-1 tll1 7092 TLL1 atrial heart septal defect 6 DOID:0110111 Atrial septal defect 6 613087 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040220-1 tlr1 7096 TLR1 {Leprosy, protection against} 613223 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040220-1 tlr1 7096 TLR1 {Leprosy, susceptibility to, 5} 613223 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-6 tlr2 7097 TLR2 {Leprosy, susceptibility to} 246300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-6 tlr2 7097 TLR2 {Mycobacterium tuberculosis, susceptibility to} 607948 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-6 tlr2 7097 TLR2 colorectal cancer DOID:9256 {Colorectal cancer, susceptibility to} 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-7 tlr3 7098 TLR3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2} 613002 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-7 tlr3 7098 TLR3 {HIV1 infection, resistance to} 609423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-14 tlr5a 7100 TLR5 {Legionnaire disease, susceptibility to} 608556 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-14 tlr5a 7100 TLR5 {Melioidosis, susceptibility to} 615557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-14 tlr5a 7100 TLR5 {Systemic lupus erythematosus, resistance to} 601744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-14 tlr5a 7100 TLR5 {Systemic lupus erythematosus, susceptibility to, 1} 601744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-15 tlr5b 7100 TLR5 {Legionnaire disease, susceptibility to} 608556 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-15 tlr5b 7100 TLR5 {Melioidosis, susceptibility to} 615557 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-15 tlr5b 7100 TLR5 {Systemic lupus erythematosus, resistance to} 601744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040219-15 tlr5b 7100 TLR5 {Systemic lupus erythematosus, susceptibility to, 1} 601744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-261 tmc1 117531 TMC1 autosomal dominant nonsyndromic deafness 36 DOID:0110563 Deafness, autosomal dominant 36 606705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-261 tmc1 117531 TMC1 autosomal recessive nonsyndromic deafness 7 DOID:0110520 Deafness, autosomal recessive 7 600974 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081114-3 tmc6a 11322 TMC6 Epidermodysplasia verruciformis 226400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-460 tmc6b 11322 TMC6 Epidermodysplasia verruciformis 226400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081114-2 tmc8 147138 TMC8 Epidermodysplasia verruciformis 2 618231 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-344 tmco1 54499 TMCO1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1336 tmem106ba 54664 TMEM106B Leukodystrophy, hypomyelinating, 16 617964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050913-37 tmem106bb 54664 TMEM106B Leukodystrophy, hypomyelinating, 16 617964 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2294 tmem107 84314 TMEM107 Meckel syndrome 13 DOID:0080253 ?Joubert syndrome 29 617562 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2294 tmem107 84314 TMEM107 Meckel syndrome 13 DOID:0080253 Meckel syndrome 13 617562 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2294 tmem107 84314 TMEM107 orofaciodigital syndrome XVI DOID:0080254 Orofaciodigital syndrome XVI 617563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1770 tmem126a 84233 TMEM126A Mitochondrial complex I deficiency, nuclear type 29 618250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1770 tmem126a 84233 TMEM126A Optic atrophy 7 612989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1770 tmem126a 55863 TMEM126B Mitochondrial complex I deficiency, nuclear type 29 618250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1770 tmem126a 55863 TMEM126B Optic atrophy 7 612989 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-97 tmem127 55654 TMEM127 pheochromocytoma DOID:0050771 {Pheochromocytoma, susceptibility to} 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120926-3 tmem132e 124842 TMEM132E ?Deafness, autosomal recessive 99 618481 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120912-1 tmem138 51524 TMEM138 Joubert syndrome 16 DOID:0110985 Joubert syndrome 16 614465 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3222 tmem165 55858 TMEM165 congenital disorder of glycosylation type IIk DOID:0070263 Congenital disorder of glycosylation, type IIk 614727 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-150 tmem199 147007 TMEM199 congenital disorder of glycosylation type IIp DOID:0070268 Congenital disorder of glycosylation, type IIp 616829 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100818-1 tmem216 51259 TMEM216 Joubert syndrome 2 DOID:0110988 Joubert syndrome 2 608091 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100818-1 tmem216 51259 TMEM216 Meckel syndrome 2 DOID:0070116 Meckel syndrome 2 603194 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1386 tmem231 79583 TMEM231 Meckel syndrome 11 615397 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1386 tmem231 79583 TMEM231 Joubert syndrome 20 DOID:0110989 Joubert syndrome 20 614970 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070402-3 tmem237a 65062 TMEM237 Joubert syndrome 14 DOID:0110983 Joubert syndrome 14 614424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040912-63 tmem237b 65062 TMEM237 Joubert syndrome 14 DOID:0110983 Joubert syndrome 14 614424 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-306 tmem240a 339453 TMEM240 spinocerebellar ataxia type 21 DOID:0050972 Spinocerebellar ataxia 21 607454 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131127-474 tmem240b 339453 TMEM240 spinocerebellar ataxia type 21 DOID:0050972 Spinocerebellar ataxia 21 607454 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4198 tmem260 54916 TMEM260 Structural heart defects and renal anomalies syndrome 617478 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-807 tmem38b 55151 TMEM38B osteogenesis imperfecta type 14 DOID:0110343 Osteogenesis imperfecta, type XIV 615066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2348 tmem43 79188 TMEM43 arrhythmogenic right ventricular dysplasia 5 DOID:0110074 Arrhythmogenic right ventricular dysplasia 5 604400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2348 tmem43 79188 TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy 7 DOID:0070252 Emery-Dreifuss muscular dystrophy 7, AD 614302 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 COACH syndrome 216360 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 ?RHYNS syndrome 602152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 Bardet-Biedl syndrome 14 DOID:0110136 {Bardet-Biedl syndrome 14, modifier of} 615991 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 Joubert syndrome 6 DOID:0111001 Joubert syndrome 6 610688 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 607361 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080716-1 tmem67 91147 TMEM67 nephronophthisis 11 DOID:0111118 Nephronophthisis 11 613550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-593 tmem70 54968 TMEM70 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 DOID:0060331 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121130-1 tmem94 9772 TMEM94 Intellectual developmental disorder with cardiac defects and dysmorphic facies 618316 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1092 tmem98 26022 TMEM98 microphthalmia DOID:10629 Nanophthalmos 4 615972 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061207-9 tmie 259236 TMIE autosomal recessive nonsyndromic deafness 6 DOID:0110512 Deafness, autosomal recessive 6 600971 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-144 tmlhe 55217 TMLHE {Autism, susceptibility to, X-linked 6} 300872 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-83 tmprss15 5651 TMPRSS15 Enterokinase deficiency 226200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-70 tmprss3a 64699 TMPRSS3 autosomal recessive nonsyndromic deafness 8 DOID:0110527 Deafness, autosomal recessive 8/10 601072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-522 tmprss3b 64699 TMPRSS3 autosomal recessive nonsyndromic deafness 8 DOID:0110527 Deafness, autosomal recessive 8/10 601072 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110525-1 tmprss6 164656 TMPRSS6 microcytic anemia DOID:11252 Iron-refractory iron deficiency anemia 206200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061221-2 tmtc3 160418 TMTC3 Lissencephaly 8 617255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-104 tnc 3371 TNC autosomal dominant nonsyndromic deafness 56 DOID:0110581 Deafness, autosomal dominant 56 615629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050317-1 tnfa 7124 TNF {Asthma, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050317-1 tnfa 7124 TNF {Dementia, vascular, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050317-1 tnfa 7124 TNF {Malaria, cerebral, susceptibility to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050317-1 tnfa 7124 TNF {Septic shock, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050317-1 tnfa 7124 TNF migraine DOID:6364 {Migraine without aura, susceptibility to} 157300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100212-2 tnfaip3 7128 TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like 616744 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-2 tnfb 7124 TNF {Asthma, susceptibility to} 600807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-2 tnfb 7124 TNF {Dementia, vascular, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-2 tnfb 7124 TNF {Malaria, cerebral, susceptibility to} 611162 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-2 tnfb 7124 TNF {Septic shock, susceptibility to} ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050601-2 tnfb 7124 TNF migraine DOID:6364 {Migraine without aura, susceptibility to} 157300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120910-2 tnfrsf11a 8792 TNFRSF11A Osteolysis, familial expansile 174810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120910-2 tnfrsf11a 8792 TNFRSF11A autosomal recessive osteopetrosis 7 DOID:0110946 Osteopetrosis, autosomal recessive 7 612301 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120910-2 tnfrsf11a 8792 TNFRSF11A Paget's disease of bone DOID:5408 {Paget disease of bone 2, early-onset} 602080 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-76 tnfrsf11b 4982 TNFRSF11B Paget disease of bone 5, juvenile-onset 239000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2252 tnfrsf1a 7132 TNFRSF1A {Multiple sclerosis, susceptibility to, 5} 614810 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2252 tnfrsf1a 7132 TNFRSF1A autosomal dominant familial periodic fever DOID:0090018 Periodic fever, familial 142680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090805-2 tnfsf11 8600 TNFSF11 autosomal recessive osteopetrosis 2 DOID:0110943 Osteopetrosis, autosomal recessive 2 259710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3767 tnika 23043 TNIK Mental retardation, autosomal recessive 54 617028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-051113-320 tnikb 23043 TNIK Mental retardation, autosomal recessive 54 617028 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030523-1 tnnc1a 7134 TNNC1 dilated cardiomyopathy 1Z DOID:0110434 Cardiomyopathy, dilated, 1Z 611879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030523-1 tnnc1a 7134 TNNC1 hypertrophic cardiomyopathy 13 DOID:0110319 Cardiomyopathy, hypertrophic, 13 613243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-62 tnnc1b 7134 TNNC1 dilated cardiomyopathy 1Z DOID:0110434 Cardiomyopathy, dilated, 1Z 611879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-62 tnnc1b 7134 TNNC1 hypertrophic cardiomyopathy 13 DOID:0110319 Cardiomyopathy, hypertrophic, 13 613243 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-60 tnni2a.1 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-970 tnni2a.2 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-80 tnni2a.3 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-119 tnni2a.4 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-49 tnni2b.1 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-9 tnni2b.2 7136 TNNI2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B1 601680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-399 tnni3k 51086 TNNI3K Cardiac conduction disease with or without dilated cardiomyopathy 616117 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080723-27 tnnt1 7138 TNNT1 nemaline myopathy 5 DOID:0110936 Nemaline myopathy 5, Amish type 605355 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000626-1 tnnt2a 7139 TNNT2 dilated cardiomyopathy 1D DOID:0110426 Cardiomyopathy, dilated, 1D 601494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000626-1 tnnt2a 7139 TNNT2 dilated cardiomyopathy 1D DOID:0110426 Left ventricular noncompaction 6 601494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000626-1 tnnt2a 7139 TNNT2 hypertrophic cardiomyopathy 2 DOID:0110308 Cardiomyopathy, hypertrophic, 2 115195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000626-1 tnnt2a 7139 TNNT2 restrictive cardiomyopathy DOID:397 Cardiomyopathy, familial restrictive, 3 612422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091106-2 tnnt2b 7139 TNNT2 dilated cardiomyopathy 1D DOID:0110426 Cardiomyopathy, dilated, 1D 601494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091106-2 tnnt2b 7139 TNNT2 dilated cardiomyopathy 1D DOID:0110426 Left ventricular noncompaction 6 601494 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091106-2 tnnt2b 7139 TNNT2 hypertrophic cardiomyopathy 2 DOID:0110308 Cardiomyopathy, hypertrophic, 2 115195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091106-2 tnnt2b 7139 TNNT2 restrictive cardiomyopathy DOID:397 Cardiomyopathy, familial restrictive, 3 612422 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000322-3 tnnt3a 7140 TNNT3 Arthrogryposis, distal, type 2B2 618435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030520-2 tnnt3b 7140 TNNT3 Arthrogryposis, distal, type 2B2 618435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-708 tnpo3 23534 TNPO3 autosomal dominant limb-girdle muscular dystrophy type 2 DOID:0110304 Muscular dystrophy, limb-girdle, autosomal dominant 2 608423 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2519 tnrc6a 27327 TNRC6A ?Epilepsy, familial adult myoclonic, 6 618074 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-5 tnxba 7148 TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-5 tnxba 7148 TNXB vesicoureteral reflux DOID:9620 Vesicoureteral reflux 8 615963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-335 tnxbb 7148 TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141212-335 tnxbb 7148 TNXB vesicoureteral reflux DOID:9620 Vesicoureteral reflux 8 615963 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-533 toe1 114034 TOE1 pontocerebellar hypoplasia type 7 DOID:0060276 Pontocerebellar hypoplasia, type 7 614969 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-230 tonsl 4796 TONSL spondyloepimetaphyseal dysplasia, Sponastrime type DOID:5684 Spondyloepimetaphyseal dysplasia, sponastrime type 271510 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5390 top1 7150 TOP1 DNA topoisomerase I, camptothecin-resistant ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2453 top2a 7153 TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071212-2 top3a 7156 TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2 618097 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071212-2 top3a 7156 TOP3A ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 618098 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6401 toporsa 10210 TOPORS retinitis pigmentosa 31 DOID:0110391 Retinitis pigmentosa 31 609923 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110728-3 toporsb 10210 TOPORS retinitis pigmentosa 31 DOID:0110391 Retinitis pigmentosa 31 609923 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 {Basal cell carcinoma 7} 614740 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 Bone marrow failure syndrome 5 618165 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 {Glioma susceptibility 1} 137800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 adrenocortical carcinoma DOID:3948 {Adrenocortical carcinoma, pediatric} 202300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 breast cancer DOID:1612 Breast cancer, somatic 114480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 choroid plexus papilloma DOID:2626 {Choroid plexus papilloma} 260500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 colorectal cancer DOID:9256 {Colorectal cancer} 114500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 hepatocellular carcinoma DOID:684 Hepatocellular carcinoma, somatic 114550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome 151623 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 nasopharynx carcinoma DOID:9261 Nasopharyngeal carcinoma, somatic 607107 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 osteosarcoma DOID:3347 {Osteosarcoma} 259500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-270 tp53 7157 TP53 pancreatic carcinoma DOID:4905 Pancreatic cancer, somatic 260350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-123 tp53rk 112858 TP53RK Galloway-Mowat syndrome 4 DOID:0080246 Galloway-Mowat syndrome 4 617730 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 Limb-mammary syndrome 603543 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 ADULT syndrome DOID:0050601 ADULT syndrome 103285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DOID:0090119 Hay-Wells syndrome 106260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 DOID:0060783 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 orofacial cleft 8 DOID:0080401 Orofacial cleft 8 618149 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 Rapp-Hodgkin syndrome DOID:0060330 Rapp-Hodgkin syndrome 129400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030819-1 tp63 8626 TP63 split hand-foot malformation 4 DOID:0090023 Split-hand/foot malformation 4 605289 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061103-202 tpcn2 219931 TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair] 612267 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-4 tph2 121278 TPH2 {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-4 tph2 121278 TPH2 endogenous depression DOID:1595 {Unipolar depression, susceptibility to} 608516 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020416-3 tpi1a 7167 TPI1 triosephosphate isomerase deficiency DOID:0050884 Hemolytic anemia due to triosephosphate isomerase deficiency 615512 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020416-4 tpi1b 7167 TPI1 triosephosphate isomerase deficiency DOID:0050884 Hemolytic anemia due to triosephosphate isomerase deficiency 615512 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-176 tpk1 27010 TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 614458 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-854 tpm1 7168 TPM1 dilated cardiomyopathy 1Y DOID:0110457 Cardiomyopathy, dilated, 1Y 611878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-854 tpm1 7168 TPM1 dilated cardiomyopathy 1Y DOID:0110457 Left ventricular noncompaction 9 611878 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-854 tpm1 7168 TPM1 hypertrophic cardiomyopathy 3 DOID:0110309 Cardiomyopathy, hypertrophic, 3 115196 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-114 tpm2 7169 TPM2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 1A 108120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-114 tpm2 7169 TPM2 distal arthrogryposis DOID:0050646 Arthrogryposis, distal, type 2B4 108120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-114 tpm2 7169 TPM2 nemaline myopathy 4 DOID:0110932 CAP myopathy 2 609285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-114 tpm2 7169 TPM2 nemaline myopathy 4 DOID:0110932 Nemaline myopathy 4, autosomal dominant 609285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-16 tpm3 7170 TPM3 congenital fiber-type disproportion DOID:0080102 Myopathy, congenital, with fiber-type disproportion 255310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-16 tpm3 7170 TPM3 nemaline myopathy 1 DOID:0110926 CAP myopathy 1 609284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-16 tpm3 7170 TPM3 nemaline myopathy 1 DOID:0110926 Nemaline myopathy 1, autosomal dominant or recessive 609284 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-141 tpmt.1 7172 TPMT thiopurine S-methyltransferase deficiency DOID:0080172 {Thiopurines, poor metabolism of, 1} 610460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-177 tpmt.2 7172 TPMT thiopurine S-methyltransferase deficiency DOID:0080172 {Thiopurines, poor metabolism of, 1} 610460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110519-2 tpo 7173 TPO Thyroid dyshormonogenesis 2A 274500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6654 tpp1 1200 TPP1 autosomal recessive spinocerebellar ataxia 7 DOID:0080059 Spinocerebellar ataxia, autosomal recessive 7 609270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-6654 tpp1 1200 TPP1 neuronal ceroid lipofuscinosis 2 DOID:0110726 Ceroid lipofuscinosis, neuronal, 2 204500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-68 tprkb 51002 TPRKB Galloway-Mowat syndrome 5 DOID:0080247 Galloway-Mowat syndrome 5 617731 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-254 tprn 286262 TPRN autosomal recessive nonsyndromic deafness 79 DOID:0110526 Deafness, autosomal recessive 79 613307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-257 traf3 7187 TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5} 614849 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1146 traf3ip1 26146 TRAF3IP1 Senior-Loken syndrome 9 616629 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-60 traf3ip2a 10758 TRAF3IP2 chronic mucocutaneous candidiasis DOID:2058 ?Candidiasis, familial, 8 615527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-60 traf3ip2a 10758 TRAF3IP2 psoriasis 13 DOID:0111287 {Psoriasis susceptibility 13} 614070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-74 traf3ip2b 10758 TRAF3IP2 chronic mucocutaneous candidiasis DOID:2058 ?Candidiasis, familial, 8 615527 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031118-74 traf3ip2b 10758 TRAF3IP2 psoriasis 13 DOID:0111287 {Psoriasis susceptibility 13} 614070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-2212 traf7 84231 TRAF7 Cardiac, facial, and digital anomalies with developmental delay 618164 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-182 trak1a 22906 TRAK1 Epileptic encephalopathy, early infantile, 68 618201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150910-1 trak1b 22906 TRAK1 Epileptic encephalopathy, early infantile, 68 618201 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1723 trappc11 60684 TRAPPC11 autosomal recessive limb-girdle muscular dystrophy type 2S DOID:0110287 Muscular dystrophy, limb-girdle, autosomal recessive 18 615356 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1282 trappc12 51112 TRAPPC12 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 617669 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-1266 trappc2 6399 TRAPPC2 spondyloepiphyseal dysplasia tarda DOID:0080362 Spondyloepiphyseal dysplasia tarda 313400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-249 trappc2l 51693 TRAPPC2L Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 618331 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-122 trappc6b 122553 TRAPPC6B Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 617862 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-261 trappc9 83696 TRAPPC9 non-syndromic intellectual disability DOID:0050889 Mental retardation, autosomal recessive 13 613192 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-193 trdn 10345 TRDN catecholaminergic polymorphic ventricular tachycardia 5 DOID:0060679 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 615441 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-84 treh 11181 TREH Trehalase deficiency 612119 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020930-1 trh 7200 TRH Thyrotropin-releasing hormone deficiency 275120 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-18 trhra 7201 TRHR Hypothyroidism, congenital, nongoitrous, 7 618573 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-382 trhrb 7201 TRHR Hypothyroidism, congenital, nongoitrous, 7 618573 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-99 trim2a 23321 TRIM2 Charcot-Marie-Tooth disease type 2R DOID:0110161 Charcot-Marie-Tooth disease, type 2R 615490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090312-70 trim2b 23321 TRIM2 Charcot-Marie-Tooth disease type 2R DOID:0110161 Charcot-Marie-Tooth disease, type 2R 615490 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060428-1 trim32 22954 TRIM32 autosomal recessive limb-girdle muscular dystrophy type 2H DOID:0110282 Muscular dystrophy, limb-girdle, autosomal recessive 8 254110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060428-1 trim32 22954 TRIM32 Bardet-Biedl syndrome 11 DOID:0110133 ?Bardet-Biedl syndrome 11 615988 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2936 trim36 55521 TRIM36 anencephaly DOID:0060668 ?Anencephaly 206500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2957 trim37 4591 TRIM37 mulibrey nanism DOID:0050436 Mulibrey nanism 253250 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-37 trim44 54765 TRIM44 ?Aniridia 3 617142 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-334 trioa 7204 TRIO autosomal dominant non-syndromic intellectual disability 44 DOID:0070074 Mental retardation, autosomal dominant 44 617061 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-399 triob 7204 TRIO autosomal dominant non-syndromic intellectual disability 44 DOID:0070074 Mental retardation, autosomal dominant 44 617061 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-40 triobpa 11078 TRIOBP autosomal recessive nonsyndromic deafness 28 DOID:0110486 Deafness, autosomal recessive 28 609823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-80 triobpb 11078 TRIOBP autosomal recessive nonsyndromic deafness 28 DOID:0110486 Deafness, autosomal recessive 28 609823 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9833 trip11 9321 TRIP11 Osteochondrodysplasia 184260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9833 trip11 9321 TRIP11 achondrogenesis type IA DOID:0080054 Achondrogenesis, type IA 200600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041111-262 trip12 9320 TRIP12 autosomal dominant mental retardation 49 DOID:0080234 Mental retardation, autosomal dominant 49 617752 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1488 trip13 9319 TRIP13 Mosaic variegated aneuploidy syndrome 3 617598 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-92 trip4 9325 TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type 617066 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-92 trip4 9325 TRIP4 Spinal muscular atrophy with congenital bone fractures 1 616866 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-297 trit1 54802 TRIT1 Combined oxidative phosphorylation deficiency 35 617873 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-40 trmt1 55621 TRMT1 Mental retardation, autosomal recessive 68 618302 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130530-594 trmt10a 93587 TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1 616033 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-12 trmt10c 54931 TRMT10C Combined oxidative phosphorylation deficiency 30 616974 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5978 trmt5 57570 TRMT5 Combined oxidative phosphorylation deficiency 26 616539 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-540 trmu 55687 TRMU {Deafness, mitochondrial, modifier of} 580000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-540 trmu 55687 TRMU Liver failure, transient infantile 613070 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-176 trnt1 51095 TRNT1 Retinitis pigmentosa and erythrocytic microcytosis 616959 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040625-176 trnt1 51095 TRNT1 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay DOID:0080209 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 616084 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050105-6 trpa1a 8989 TRPA1 ?Episodic pain syndrome, familial, 1 615040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050106-1 trpa1b 8989 TRPA1 ?Episodic pain syndrome, familial, 1 615040 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140129-1 trpc3 7222 TRPC3 ?Spinocerebellar ataxia 41 616410 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040724-114 trpc6a 7225 TRPC6 focal segmental glomerulosclerosis 2 DOID:0111129 Glomerulosclerosis, focal segmental, 2 603965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081030-19 trpc6b 7225 TRPC6 focal segmental glomerulosclerosis 2 DOID:0111129 Glomerulosclerosis, focal segmental, 2 603965 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1372 trpm1a 4308 TRPM1 congenital stationary night blindness 1C DOID:0110867 Night blindness, congenital stationary (complete), 1C, autosomal recessive 613216 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-31 trpm1b 4308 TRPM1 congenital stationary night blindness 1C DOID:0110867 Night blindness, congenital stationary (complete), 1C, autosomal recessive 613216 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090302-3 trpm4a 54795 TRPM4 Erythrokeratodermia veriabilis et progressiva 6 618531 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090302-3 trpm4a 54795 TRPM4 progressive familial heart block type IB DOID:0111076 Progressive familial heart block, type IB 604559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-3 trpm4b.1 54795 TRPM4 Erythrokeratodermia veriabilis et progressiva 6 618531 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-3 trpm4b.1 54795 TRPM4 progressive familial heart block type IB DOID:0111076 Progressive familial heart block, type IB 604559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-2 trpm4b.2 54795 TRPM4 Erythrokeratodermia veriabilis et progressiva 6 618531 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061214-2 trpm4b.2 54795 TRPM4 progressive familial heart block type IB DOID:0111076 Progressive familial heart block, type IB 604559 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111212-1 trpm6 140803 TRPM6 intestinal hypomagnesemia 1 DOID:0060883 Hypomagnesemia 1, intestinal 602014 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021115-2 trpm7 54822 TRPM7 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to} 105500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8404 trps1 7227 TRPS1 trichorhinophalangeal syndrome type I DOID:14743 Trichorhinophalangeal syndrome, type I 190350 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8404 trps1 7227 TRPS1 trichorhinophalangeal syndrome type III DOID:0080376 Trichorhinophalangeal syndrome, type III 190351 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 ?Avascular necrosis of femoral head, primary, 2 617383 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Digital arthropathy-brachydactyly, familial 606835 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Metatropic dysplasia 156530 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Parastremmatic dwarfism 168400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Scapuloperoneal spinal muscular atrophy 181405 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 SED, Maroteaux type 184095 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 [Sodium serum level QTL 1] 613508 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Spondylometaphyseal dysplasia, Kozlowski type 184252 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 brachyolmia DOID:0050690 Brachyolmia type 3 113500 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 Charcot-Marie-Tooth disease axonal type 2C DOID:0110182 Hereditary motor and sensory neuropathy, type IIc 606071 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030912-7 trpv4 59341 TRPV4 distal hereditary motor neuronopathy type 8 DOID:0111215 Spinal muscular atrophy, distal, congenital nonprogressive 600175 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040624-12 trpv6 55503 TRPV6 Hyperparathyroidism, transient neonatal 618188 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050809-47 trrap 8295 TRRAP Developmental delay with or without dysmorphic facies and autism 618454 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9111 tsc1a 7248 TSC1 Focal cortical dysplasia, type II, somatic 607341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9111 tsc1a 7248 TSC1 lymphangioleiomyomatosis DOID:3319 Lymphangioleiomyomatosis 606690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9111 tsc1a 7248 TSC1 tuberous sclerosis 1 DOID:0080324 Tuberous sclerosis-1 191100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3404 tsc1b 7248 TSC1 Focal cortical dysplasia, type II, somatic 607341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3404 tsc1b 7248 TSC1 lymphangioleiomyomatosis DOID:3319 Lymphangioleiomyomatosis 606690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3404 tsc1b 7248 TSC1 tuberous sclerosis 1 DOID:0080324 Tuberous sclerosis-1 191100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2702 tsc2 7249 TSC2 ?Focal cortical dysplasia, type II, somatic 607341 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2702 tsc2 7249 TSC2 lymphangioleiomyomatosis DOID:3319 Lymphangioleiomyomatosis, somatic 606690 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2702 tsc2 7249 TSC2 tuberous sclerosis 2 DOID:0080325 Tuberous sclerosis-2 613254 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041008-211 tsen15 116461 TSEN15 Pontocerebellar hypoplasia, type 2F 617026 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060929-918 tsen2 80746 TSEN2 pontocerebellar hypoplasia type 2B DOID:0060268 Pontocerebellar hypoplasia type 2B 612389 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050419-115 tsen34 79042 TSEN34 pontocerebellar hypoplasia type 2C DOID:0060269 ?Pontocerebellar hypoplasia type 2C 612390 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-454 tsen54 283989 TSEN54 pontocerebellar hypoplasia type 2A DOID:0060267 Pontocerebellar hypoplasia type 2A 277470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-454 tsen54 283989 TSEN54 pontocerebellar hypoplasia type 4 DOID:0060273 Pontocerebellar hypoplasia type 4 225753 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-454 tsen54 283989 TSEN54 pontocerebellar hypoplasia type 5 DOID:0060274 ?Pontocerebellar hypoplasia type 5 610204 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061215-17 tsfm 10102 TSFM combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 3 610505 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-482 tsga10 80705 TSGA10 ?Spermatogenic failure 26 617961 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030513-3 tshba 7252 TSHB congenital nongoitrous hypothyroidism 4 DOID:0070123 Hypothyroidism, congenital, nongoitrous 4 275100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-150220-1 tshbb 7252 TSHB congenital nongoitrous hypothyroidism 4 DOID:0070123 Hypothyroidism, congenital, nongoitrous 4 275100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110524-4 tshr 7253 TSHR Thyroid adenoma, hyperfunctioning, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110524-4 tshr 7253 TSHR Thyroid carcinoma with thyrotoxicosis ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110524-4 tshr 7253 TSHR congenital nongoitrous hypothyroidism 1 DOID:0070126 Hypothyroidism, congenital, nongoitrous, 1 275200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110524-4 tshr 7253 TSHR hyperthyroidism DOID:7998 Hyperthyroidism, familial gestational 603373 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110524-4 tshr 7253 TSHR hyperthyroidism DOID:7998 Hyperthyroidism, nonautoimmune 609152 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030820-3 tshz1 10194 TSHZ1 Aural atresia, congenital 607842 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1285 tspan12 23554 TSPAN12 exudative vitreoretinopathy DOID:0050535 Exudative vitreoretinopathy 5 613310 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5435 tspan7 7102 TSPAN7 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 58 300210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-5 tspan7b 7102 TSPAN7 non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 58 300210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-12 tspeara 54084 TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 618180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120215-12 tspeara 54084 TSPEAR autosomal recessive nonsyndromic deafness 98 DOID:0110540 ?Deafness, autosomal recessive 98 614861 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4270 tspearb 54084 TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 618180 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4270 tspearb 54084 TSPEAR autosomal recessive nonsyndromic deafness 98 DOID:0110540 ?Deafness, autosomal recessive 98 614861 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9158 tspy 7258 TSPY1 Sudden infant death with dysgenesis of the testes syndrome 608800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9158 tspy 7259 TSPYL1 Sudden infant death with dysgenesis of the testes syndrome 608800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-9158 tspy 64061 TSPYL2 Sudden infant death with dysgenesis of the testes syndrome 608800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-021231-2 tsr2 90121 TSR2 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 300946 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-120928-3 ttbk2a 146057 TTBK2 spinocerebellar ataxia type 11 DOID:0050961 Spinocerebellar ataxia 11 604432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8246 ttbk2b 146057 TTBK2 spinocerebellar ataxia type 11 DOID:0050961 Spinocerebellar ataxia 11 604432 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070912-490 ttc19 54902 TTC19 mitochondrial complex III deficiency nuclear type 2 DOID:0060351 Mitochondrial complex III deficiency, nuclear type 2 615157 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-141211-62 ttc21a 199223 TTC21A Spermatogenic failure 37 618429 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-34 ttc21b 79809 TTC21B asphyxiating thoracic dystrophy 4 DOID:0110088 Short-rib thoracic dysplasia 4 with or without polydactyly 613819 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031010-34 ttc21b 79809 TTC21B nephronophthisis 12 DOID:0111119 Nephronophthisis 12 613820 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-995 ttc25 83538 TTC25 primary ciliary dyskinesia 35 DOID:0110620 Ciliary dyskinesia, primary, 35 617092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110125-2 ttc37 9652 TTC37 Trichohepatoenteric syndrome 1 222470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010319-27 ttc7a 57217 TTC7A multiple intestinal atresia DOID:14671 Gastrointestinal defects and immunodeficiency syndrome 243150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8846 ttc8 123016 TTC8 Bardet-Biedl syndrome 8 DOID:0110130 Bardet-Biedl syndrome 8 615985 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8846 ttc8 123016 TTC8 retinitis pigmentosa 51 DOID:0110398 ?Retinitis pigmentosa 51 613464 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-25 tti2 80185 TTI2 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 39 615541 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100922-236 ttll5 23093 TTLL5 cone-rod dystrophy 19 DOID:0111025 Cone-rod dystrophy 19 615860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN Salih myopathy 611705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN autosomal recessive limb-girdle muscular dystrophy type 2J DOID:0110283 Muscular dystrophy, limb-girdle, autosomal recessive 10 608807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN dilated cardiomyopathy 1G DOID:0110430 Cardiomyopathy, dilated, 1G 604145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN hypertrophic cardiomyopathy 9 DOID:0110315 Cardiomyopathy, familial hypertrophic, 9 613765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN myofibrillar myopathy 9 DOID:0111188 Myopathy, myofibrillar, 9, with early respiratory failure 603689 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-413 ttn.1 7273 TTN tibial muscular dystrophy DOID:0111078 Tibial muscular dystrophy, tardive 600334 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN Salih myopathy 611705 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN autosomal recessive limb-girdle muscular dystrophy type 2J DOID:0110283 Muscular dystrophy, limb-girdle, autosomal recessive 10 608807 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN dilated cardiomyopathy 1G DOID:0110430 Cardiomyopathy, dilated, 1G 604145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN hypertrophic cardiomyopathy 9 DOID:0110315 Cardiomyopathy, familial hypertrophic, 9 613765 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN myofibrillar myopathy 9 DOID:0111188 Myopathy, myofibrillar, 9, with early respiratory failure 603689 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030113-2 ttn.2 7273 TTN tibial muscular dystrophy DOID:0111078 Tibial muscular dystrophy, tardive 600334 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4631 ttpa 7274 TTPA familial isolated deficiency of vitamin E DOID:0090028 Ataxia with isolated vitamin E deficiency 277460 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-14 ttr 7276 TTR carpal tunnel syndrome DOID:12169 Carpal tunnel syndrome, familial 115430 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-14 ttr 7276 TTR dystransthyretinemic hyperthyroxinemia DOID:0080219 [Dystransthyretinemic hyperthyroxinemia] 145680 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040927-14 ttr 7276 TTR transthyretin amyloidosis DOID:0050638 Amyloidosis, hereditary, transthyretin-related 105210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121009-1 tub 7275 TUB ?Retinal dystrophy and obesity 616188 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090507-4 tuba1a 7846 TUBA1A lissencephaly DOID:0050453 Lissencephaly 3 611603 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110408-5 tubb1 81027 TUBB1 autosomal dominant macrothrombocytopenia TUBB1-related DOID:0090102 Macrothrombocytopenia, autosomal dominant, TUBB1-related 613112 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-384 tubb2 7280 TUBB2A complex cortical dysplasia with other brain malformations 5 DOID:0090135 Cortical dysplasia, complex, with other brain malformations 5 615763 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-722 tubb2b 347733 TUBB2B complex cortical dysplasia with other brain malformations 7 DOID:0090132 Cortical dysplasia, complex, with other brain malformations 7 610031 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8625 tubb4b 10383 TUBB4B Leber congenital amaurosis with early-onset deafness 617879 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031110-4 tubb5 203068 TUBB Symmetric circumferential skin creases, congenital, 1 156610 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031110-4 tubb5 203068 TUBB complex cortical dysplasia with other brain malformations 6 DOID:0090136 Cortical dysplasia, complex, with other brain malformations 6 615771 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070424-195 tubb6 84617 TUBB6 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction 617732 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-836 tubg1 7283 TUBG1 complex cortical dysplasia with other brain malformations 4 DOID:0090138 Cortical dysplasia, complex, with other brain malformations 4 615412 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-124 tubgcp4 27229 TUBGCP4 microcephaly and chorioretinopathy 3 DOID:0080107 Microcephaly and chorioretinopathy, autosomal recessive, 3 616335 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-121205-1 tubgcp6 85378 TUBGCP6 microcephaly and chorioretinopathy 1 DOID:0080105 Microcephaly and chorioretinopathy, autosomal recessive, 1 251270 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050320-73 tufm 7284 TUFM combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 4 610678 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-122 tulp1a 7287 TULP1 Leber congenital amaurosis 15 DOID:0110189 Leber congenital amaurosis 15 613843 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-122 tulp1a 7287 TULP1 retinitis pigmentosa 14 DOID:0110381 Retinitis pigmentosa 14 600132 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-113 tulp1b 7287 TULP1 Leber congenital amaurosis 15 DOID:0110189 Leber congenital amaurosis 15 613843 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-113 tulp1b 7287 TULP1 retinitis pigmentosa 14 DOID:0110381 Retinitis pigmentosa 14 600132 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-381 tusc3 7991 TUSC3 autosomal recessive non-syndromic intellectual disability DOID:0060308 Mental retardation, autosomal recessive 7 611093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-6 twist1a 7291 TWIST1 Robinow-Sorauf syndrome 180750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-6 twist1a 7291 TWIST1 craniosynostosis DOID:2340 Craniosynostosis 1 123100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-6 twist1a 7291 TWIST1 Saethre-Chotzen syndrome DOID:14768 Saethre-Chotzen syndrome with or without eyelid anomalies 101400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-6 twist1a 7291 TWIST1 Sweeney-Cox syndrome DOID:0080538 Sweeney-Cox syndrome 617746 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-357 twist1b 7291 TWIST1 Robinow-Sorauf syndrome 180750 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-357 twist1b 7291 TWIST1 craniosynostosis DOID:2340 Craniosynostosis 1 123100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-357 twist1b 7291 TWIST1 Saethre-Chotzen syndrome DOID:14768 Saethre-Chotzen syndrome with or without eyelid anomalies 101400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050417-357 twist1b 7291 TWIST1 Sweeney-Cox syndrome DOID:0080538 Sweeney-Cox syndrome 617746 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-235 twist2 117581 TWIST2 Focal facial dermal dysplasia 3, Setleis type 227260 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-235 twist2 117581 TWIST2 ablepharon macrostomia syndrome DOID:0060550 Ablepharon-macrostomia syndrome 200110 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-980526-235 twist2 117581 TWIST2 Barber-Say syndrome DOID:0060549 Barber-Say syndrome 209885 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5569 twnk 56652 TWNK Perrault syndrome 5 616138 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5569 twnk 56652 TWNK Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5569 twnk 56652 TWNK mitochondrial DNA depletion syndrome 7 DOID:0080126 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1795 txn2 25828 TXN2 ?Combined oxidative phosphorylation deficiency 29 616811 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-25 txnl4a 10907 TXNL4A Burn-McKeown syndrome 608572 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-217 txnrd2.1 10587 TXNRD2 ?Glucocorticoid deficiency 5 617825 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040914-66 txnrd2.2 10587 TXNRD2 ?Glucocorticoid deficiency 5 617825 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-071116-4 tyk2 7297 TYK2 Immunodeficiency 35 611521 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100415-1 tymp 1890 TYMP mitochondrial DNA depletion syndrome 1 DOID:0080119 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR {Melanoma, cutaneous malignant, susceptibility to, 8} 601800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR [Skin/hair/eye pigmentation 3, blue/green eyes] 601800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR [Skin/hair/eye pigmentation 3, light/dark/freckling skin] 601800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR ocular albinism with sensorineural deafness DOID:0090100 Waardenburg syndrome/albinism, digenic 103470 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR oculocutaneous albinism type IA DOID:0070094 Albinism, oculocutaneous, type IA 203100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-991026-3 tyr 7299 TYR oculocutaneous albinism type IB DOID:0070095 Albinism, oculocutaneous, type IB 606952 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061130-2 tyrobp 7305 TYROBP Nasu-Hakola disease DOID:0090112 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-2 tyrp1a 7306 TYRP1 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] 612271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070718-2 tyrp1a 7306 TYRP1 oculocutaneous albinism type III DOID:0070097 Albinism, oculocutaneous, type III 203290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-249 tyrp1b 7306 TYRP1 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] 612271 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-249 tyrp1b 7306 TYRP1 oculocutaneous albinism type III DOID:0070097 Albinism, oculocutaneous, type III 203290 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2009 uba1 7317 UBA1 Spinal muscular atrophy, X-linked 2, infantile 301830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-2 uba5 79876 UBA5 ?Spinocerebellar ataxia, autosomal recessive 24 617133 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-031112-2 uba5 79876 UBA5 early infantile epileptic encephalopathy 44 DOID:0080424 Epileptic encephalopathy, early infantile, 44 617132 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-950 ubap1 51271 UBAP1 Spastic paraplegia 80, autosomal dominant 618418 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-72 ube2a 7319 UBE2A syndromic X-linked intellectual disability Nascimento type DOID:0060820 Mental retardation, X-linked syndromic, Nascimento-type 300860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4195 ube2al 7319 UBE2A syndromic X-linked intellectual disability Nascimento type DOID:0060820 Mental retardation, X-linked syndromic, Nascimento-type 300860 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-247 ube2b 7320 UBE2B ?Male infertility ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061013-547 ube2t 29089 UBE2T Fanconi anemia complementation group T DOID:0111081 Fanconi anemia, complementation group T 616435 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-190 ube3a 7337 UBE3A Angelman syndrome DOID:1932 Angelman syndrome 105830 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060526-231 ube3b 89910 UBE3B Kaufman oculocerebrofacial syndrome 244450 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3205 ubiad1 29914 UBIAD1 Schnyder corneal dystrophy DOID:0060456 Corneal dystrophy, Schnyder type 121800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091110-2 ubr1 197131 UBR1 Johanson-Blizzard syndrome DOID:14694 Johanson-Blizzard syndrome 243800 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030616-252 ubtf 7343 UBTF Neurodegeneration, childhood-onset, with brain atrophy 617672 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3844 uchl1 7345 UCHL1 {?Parkinson disease 5, susceptibility to} 613643 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-3844 uchl1 7345 UCHL1 Spastic paraplegia 79, autosomal recessive 615491 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990708-8 ucp2 7351 UCP2 {Obesity, susceptibility to, BMIQ4} 607447 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1317 ucp3 7352 UCP3 obesity DOID:9970 {Obesity, severe, and type II diabetes} 601665 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-268 ufc1 51506 UFC1 Neurodevelopmental disorder with spasticity and poor growth 618076 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2930 ufm1 51569 UFM1 hypomyelinating leukodystrophy 14 DOID:0080296 Leukodystrophy, hypomyelinating, 14 617899 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8726 ufsp2 55325 UFSP2 ?Hip dysplasia, Beukes type 142669 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8726 ufsp2 55325 UFSP2 ?Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-785 umps 7372 UMPS orotic aciduria DOID:0050833 Orotic aciduria 258900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090930-2 unc119a 9094 UNC119 ?Cone-rod dystrophy ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090930-2 unc119a 9094 UNC119 ?Immunodeficiency 13 615518 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-2 unc119b 9094 UNC119 ?Cone-rod dystrophy ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050201-2 unc119b 9094 UNC119 ?Immunodeficiency 13 615518 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-188 unc13d 201294 UNC13D familial hemophagocytic lymphohistiocytosis 3 DOID:0110923 Hemophagocytic lymphohistiocytosis, familial, 3 608898 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020919-3 unc45b 146862 UNC45B cataract 43 DOID:0110259 ?Cataract 43 616279 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-140106-167 unc80 285175 UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 616801 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-130424-1 unc93b1 81622 UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-900 unga 7374 UNG immunodeficiency with hyper IgM type 5 DOID:0060759 Immunodeficiency with hyper IgM, type 5 608106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-360 ungb 7374 UNG immunodeficiency with hyper IgM type 5 DOID:0060759 Immunodeficiency with hyper IgM, type 5 608106 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030826-24 uox 391051 UOX [Urate oxidase deficiency] ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1380 upb1 51733 UPB1 Beta-ureidopropionase deficiency 613161 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1630 upf3b 65109 UPF3B syndromic X-linked intellectual disability 14 DOID:0060821 Mental retardation, X-linked, syndromic 14 300676 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1726 uqcc2 84300 UQCC2 mitochondrial complex III deficiency nuclear type 7 DOID:0080116 Mitochondrial complex III deficiency, nuclear type 7 615824 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8451 uqcc3 790955 UQCC3 mitochondrial complex III deficiency nuclear type 9 DOID:0080118 ?Mitochondrial complex III deficiency, nuclear type 9 616111 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-542 uqcrb 7381 UQCRB mitochondrial complex III deficiency nuclear type 3 DOID:0080112 Mitochondrial complex III deficiency, nuclear type 3 615158 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-405 uqcrc2a 7385 UQCRC2 mitochondrial complex III deficiency nuclear type 5 DOID:0080114 Mitochondrial complex III deficiency, nuclear type 5 615160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1269 uqcrc2b 7385 UQCRC2 mitochondrial complex III deficiency nuclear type 5 DOID:0080114 Mitochondrial complex III deficiency, nuclear type 5 615160 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040718-199 uqcrq 27089 UQCRQ mitochondrial complex III deficiency nuclear type 4 DOID:0080113 Mitochondrial complex III deficiency, nuclear type 4 615159 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081022-148 uroc1 131669 UROC1 ?Urocanase deficiency 276880 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-18 urod 7389 UROD porphyria cutanea tarda DOID:3132 Porphyria cutanea tarda 176100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000208-18 urod 7389 UROD porphyria cutanea tarda DOID:3132 Porphyria, hepatoerythropoietic 176100 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040323-2 uros 7390 UROS cutaneous porphyria DOID:13271 Porphyria, congenital erythropoietic 263700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040801-197 usb1 79650 USB1 poikiloderma with neutropenia DOID:0060551 Poikiloderma with neutropenia 604173 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1072 usf1 7391 USF1 {Hyperlipidemia, familial combined, susceptibility to} 602491 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-41 ush1c 10083 USH1C autosomal recessive nonsyndromic deafness 18A DOID:0110473 Deafness, autosomal recessive 18A 602092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060312-41 ush1c 10083 USH1C Usher syndrome type 1C DOID:0110830 Usher syndrome, type 1C 276904 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131120-173 ush1ga 124590 USH1G Usher syndrome type 1G DOID:0110834 Usher syndrome, type 1G 606943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-110411-55 ush1gb 124590 USH1G Usher syndrome type 1G DOID:0110834 Usher syndrome, type 1G 606943 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-794 ush2a 7399 USH2A retinitis pigmentosa 39 DOID:0110360 Retinitis pigmentosa 39 613809 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-794 ush2a 7399 USH2A Usher syndrome type 2A DOID:0110838 Usher syndrome, type 2A 276901 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100210-2 usp18 11274 USP18 Pseudo-TORCH syndrome 2 617397 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100211-2 usp45 85015 USP45 ?Leber congenital amaurosis 19 618513 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-1949 usp8 9101 USP8 ACTH-secreting pituitary adenoma DOID:7004 Pituitary adenoma 4, ACTH-secreting, somatic 219090 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8239 USP9X Mental retardation, X-linked 99, syndromic, female-restricted 300968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8239 USP9X non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 99 300919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8239 USP9X Y-linked spermatogenic failure 2 DOID:0070187 Spermatogenic failure, Y-linked, 2 415000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8287 USP9Y Mental retardation, X-linked 99, syndromic, female-restricted 300968 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8287 USP9Y non-syndromic X-linked intellectual disability DOID:0050776 Mental retardation, X-linked 99 300919 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-061019-1 usp9 8287 USP9Y Y-linked spermatogenic failure 2 DOID:0070187 Spermatogenic failure, Y-linked, 2 415000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091204-111 uvssa 57654 UVSSA UV-sensitive syndrome DOID:0060240 UV-sensitive syndrome 3 614640 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2725 vamp1 6843 VAMP1 Myasthenic syndrome, congenital, 25 618323 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2725 vamp1 6843 VAMP1 spastic ataxia 1 DOID:0050772 Spastic ataxia 1, autosomal dominant 108600 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040621-2 vangl1 81839 VANGL1 Caudal regression syndrome 600145 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040621-2 vangl1 81839 VANGL1 {Neural tube defects, susceptibility to} 182940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-020507-3 vangl2 57216 VANGL2 Neural tube defects 182940 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2348 vapb 9217 VAPB amyotrophic lateral sclerosis type 8 DOID:0050752 Amyotrophic lateral sclerosis 8 608627 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2348 vapb 9217 VAPB autosomal dominant adult-onset proximal spinal muscular atrophy DOID:0111194 Spinal muscular atrophy, late-onset, Finkel type 182980 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-010601-1 vars1 7407 VARS1 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-575 vars2 57176 VARS2 combined oxidative phosphorylation deficiency DOID:0060286 Combined oxidative phosphorylation deficiency 20 615917 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030904-9 vax1 11023 VAX1 ?Microphthalmia, syndromic 11 614402 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011023-1 vcana 1462 VCAN Wagner syndrome 1 143200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2185 vcanb 1462 VCAN Wagner syndrome 1 143200 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-61 vcla 7414 VCL dilated cardiomyopathy 1W DOID:0110446 Cardiomyopathy, dilated, 1W 611407 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050506-61 vcla 7414 VCL hypertrophic cardiomyopathy 15 DOID:0110321 Cardiomyopathy, hypertrophic, 15 613255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131017-1 vclb 7414 VCL dilated cardiomyopathy 1W DOID:0110446 Cardiomyopathy, dilated, 1W 611407 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-131017-1 vclb 7414 VCL hypertrophic cardiomyopathy 15 DOID:0110321 Cardiomyopathy, hypertrophic, 15 613255 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5408 vcp 7415 VCP amyotrophic lateral sclerosis type 14 DOID:0060205 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5408 vcp 7415 VCP Charcot-Marie-Tooth disease type 2Y DOID:0110168 Charcot-Marie-Tooth disease, type 2Y 616687 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-5408 vcp 7415 VCP inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID:0050881 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-31 vdra 7421 VDR osteoporosis DOID:11476 ?Osteoporosis, involutional 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-000210-31 vdra 7421 VDR rickets DOID:10609 Rickets, vitamin D-resistant, type IIA 277440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-10 vdrb 7421 VDR osteoporosis DOID:11476 ?Osteoporosis, involutional 166710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-080403-10 vdrb 7421 VDR rickets DOID:10609 Rickets, vitamin D-resistant, type IIA 277440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-273 vegfaa 7422 VEGFA {Microvascular complications of diabetes 1} 603933 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-4605 vegfab 7422 VEGFA {Microvascular complications of diabetes 1} 603933 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040303-4 vegfc 7424 VEGFC hereditary lymphedema ID DOID:0070209 Lymphatic malformation 4 615907 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1042 vhl 7428 VHL Hemangioblastoma, cerebellar, somatic ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1042 vhl 7428 VHL familial erythrocytosis 2 DOID:0060474 Erythrocytosis, familial, 2 263400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1042 vhl 7428 VHL nonpapillary renal cell carcinoma DOID:0050387 Renal cell carcinoma, somatic 144700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1042 vhl 7428 VHL pheochromocytoma DOID:0050771 Pheochromocytoma 171300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070112-1042 vhl 7428 VHL von Hippel-Lindau disease DOID:14175 von Hippel-Lindau syndrome 193300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-011212-3 vim 7431 VIM cataract 30 DOID:0110248 Cataract 30, pulverulent 116300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040520-1 vipas39 63894 VIPAS39 ARC syndrome DOID:0050763 Arthrogryposis, renal dysfunction, and cholestasis 2 613404 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2286 vkorc1 79001 VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2 607473 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2286 vkorc1 79001 VKORC1 Warfarin resistance 122700 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-803 vldlr 7436 VLDLR cerebellar ataxia, mental retardation and dysequlibrium syndrome DOID:0050997 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-272 vma21 203547 VMA21 X-linked myopathy with excessive autophagy DOID:0050760 Myopathy, X-linked, with excessive autophagy 310440 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050731-5 vps11 55823 VPS11 hypomyelinating leukodystrophy 12 DOID:0060796 Leukodystrophy, hypomyelinating, 12 616683 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030926-1 vps13a 23230 VPS13A choreaacanthocytosis DOID:0050766 Choreoacanthocytosis 200150 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-091110-1 vps13b 157680 VPS13B Cohen syndrome 216550 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070426-4 vps13c 54832 VPS13C Parkinson's disease 23 DOID:0060896 Parkinson disease 23, autosomal recessive, early onset 616840 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050912-1 vps13d 55187 VPS13D Spinocerebellar ataxia, autosomal recessive 4 607317 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040914-82 vps33a 65082 VPS33A Mucopolysaccharidosis-plus syndrome 617303 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050327-73 vps33b 26276 VPS33B ARC syndrome DOID:0050763 Arthrogryposis, renal dysfunction, and cholestasis 1 208085 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2042 vps35 55737 VPS35 Parkinson's disease 17 DOID:0060897 {Parkinson disease 17} 614203 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-8312 vps37a 137492 VPS37A hereditary spastic paraplegia 53 DOID:0110805 Spastic paraplegia 53, autosomal recessive 614898 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060503-526 vps45 11311 VPS45 Neutropenia, severe congenital, 5, autosomal recessive 615285 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041114-199 vps53 55275 VPS53 pontocerebellar hypoplasia type 2E DOID:0060271 Pontocerebellar hypoplasia, type 2E 615851 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-2709 vrk1 7443 VRK1 pontocerebellar hypoplasia type 1A DOID:0060265 Pontocerebellar hypoplasia type 1A 607596 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-205 vsx1 30813 VSX1 ?Craniofacial anomalies and anterior segment dysgenesis syndrome 614195 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-990415-205 vsx1 30813 VSX1 keratoconus DOID:10126 Keratoconus 1 148300 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001222-1 vsx2 338917 VSX2 Microphthalmia with coloboma 3 610092 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-001222-1 vsx2 338917 VSX2 isolated microphthalmia 2 DOID:0060839 Microphthalmia, isolated 2 610093 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-1 vwf 7450 VWF von Willebrand's disease 1 DOID:0060573 von Willebrand disease, type 1 193400 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-1 vwf 7450 VWF von Willebrand's disease 2 DOID:0060574 von Willebrand disease, types 2A, 2B, 2M, and 2N 613554 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070103-1 vwf 7450 VWF von Willebrand's disease 3 DOID:0111054 von Willibrand disease, type 3 277480 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-2624 waca 51322 WAC Desanto-Shinawi syndrome 616708 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041010-46 wacb 51322 WAC Desanto-Shinawi syndrome 616708 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-1742 wars1 7453 WARS1 distal hereditary motor neuronopathy type 9 DOID:0111212 Neuronopathy, distal hereditary motor, type IX 617721 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050306-26 wars2 10352 WARS2 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 617710 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-419 wasa 7454 WAS Neutropenia, severe congenital, X-linked 300299 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-419 wasa 7454 WAS thrombocytopenia DOID:1588 Thrombocytopenia, X-linked 313900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-419 wasa 7454 WAS thrombocytopenia DOID:1588 Thrombocytopenia, X-linked, intermittent 313900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081104-419 wasa 7454 WAS Wiskott-Aldrich syndrome DOID:9169 Wiskott-Aldrich syndrome 301000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7098 wasb 7454 WAS Neutropenia, severe congenital, X-linked 300299 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7098 wasb 7454 WAS thrombocytopenia DOID:1588 Thrombocytopenia, X-linked 313900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7098 wasb 7454 WAS thrombocytopenia DOID:1588 Thrombocytopenia, X-linked, intermittent 313900 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-030131-7098 wasb 7454 WAS Wiskott-Aldrich syndrome DOID:9169 Wiskott-Aldrich syndrome 301000 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100427-4 washc4 23325 WASHC4 autosomal recessive non-syndromic intellectual disability DOID:0060308 ?Mental retardation, autosomal recessive 43 615817 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-838 washc5 9897 WASHC5 hereditary spastic paraplegia 8 DOID:0110823 Spastic paraplegia 8, autosomal dominant 603563 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-040426-838 washc5 9897 WASHC5 Ritscher-Schinzel syndrome 1 DOID:0060571 Ritscher-Schinzel syndrome 1 220210 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-050522-137 wbp2 23558 WBP2 autosomal recessive nonsyndromic deafness 107 DOID:0080262 Deafness, autosomal recessive 107 617639 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070705-153 wdfy3 23001 WDFY3 primary autosomal dominant microcephaly 18 DOID:0070295 ?Microcephaly 18, primary, autosomal dominant 617520 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100405-4 wdpcp 51057 WDPCP ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-100405-4 wdpcp 51057 WDPCP Bardet-Biedl syndrome 15 DOID:0110137 ?Bardet-Biedl syndrome 15 615992 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-081107-28 wdr11 55717 WDR11 hypogonadotropic hypogonadism 14 with or without anosmia DOID:0090087 Hypogonadotropic hypogonadism 14 with or without anosmia 614858 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-277 wdr19 57728 WDR19 Senior-Loken syndrome 8 616307 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-277 wdr19 57728 WDR19 asphyxiating thoracic dystrophy 5 DOID:0110089 ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-277 wdr19 57728 WDR19 craniometaphyseal dysplasia DOID:0080033 ?Cranioectodermal dysplasia 4 614378 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-090313-277 wdr19 57728 WDR19 nephronophthisis 13 DOID:0111121 Nephronophthisis 13 614377 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-111027-4 wdr26a 80232 WDR26 Skraban-Deardorff syndrome 617616 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-041014-277 wdr26b 80232 WDR26 Skraban-Deardorff syndrome 617616 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-070928-9 wdr34 89891 WDR34 short-rib thoracic dysplasia 11 with or without polydactyly DOID:0110095 Short-rib thoracic dysplasia 11 with or without polydactyly 615633 ECO:0000266 ZDB-PUB-170210-12 ZDB-GENE-060810-148 wdr35 57539 WDR35 Se