Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A2ML1 CL E G H | 144568 | 23336 | OMIM:166760 | Otitis media, susceptibility to | . | | | 120 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A4GALT CL E G H | 53947 | 18149 | OMIM:111400 | BLOOD GROUP, P1PK SYSTEM | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | | | | 191 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:153800 | Macular degeneration, age-related, 2 | . | | | 826 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:614497 | Microphthalmia, isolated, with coloboma 7 | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC1 CL E G H | 4363 | 51 | OMIM:618915 | DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 245 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:610374 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | | | | 245 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | . | | | 245 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:614050 | Atrial fibrillation, familial, 12 | . | | | 254 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:608569 | CARDIOMYOPATHY, DILATED, 1O; CMD1O | | | | 254 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 319 | OMIM:165800 | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:614042 | Moyamoya disease 5 | | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612794 | Atrial septal defect 5 | . | | | 208 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | . | | | 208 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | . | | | 208 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:604717 | Deafness, autosomal dominant 20 | . | | | 123 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:155310 | Visceral myopathy 1 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN1 CL E G H | 87 | 163 | OMIM:615193 | BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | | | | 307 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618654 | MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ | | | | 307 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADAM10 CL E G H | 102 | 188 | OMIM:615537 | Reticulate acropigmentation of kitamura | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADAR CL E G H | 103 | 225 | OMIM:127400 | Dyschromatosis symmetrica hereditaria 1 | . | | | 116 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADCY10 CL E G H | 55811 | 21285 | OMIM:143870 | Hypercalciuria, absorptive, susceptibility to | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:606703 | Dyskinesia, familial, with facial myokymia | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRE2 CL E G H | 30817 | 3337 | OMIM:125630 | Dermodistortive urticaria | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRL1 CL E G H | 22859 | 20973 | OMIM:620065 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRV1 CL E G H | 84059 | 17416 | OMIM:604352 | Febrile seizures, familial, 4 | . | | | 530 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:601665 | OBESITY | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADRB3 CL E G H | 155 | 288 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:618977 | OPTIC ATROPHY 12; OPA12 | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AGBL1 CL E G H | 123624 | 26504 | OMIM:615523 | Corneal dystrophy, fuchs endothelial, 8 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AGRP CL E G H | 181 | 330 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKAP9 CL E G H | 10142 | 379 | OMIM:611820 | Long QT syndrome 11 | . | | | 289 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114500 | Colorectal cancer | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT2 CL E G H | 208 | 392 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH2 CL E G H | 217 | 404 | OMIM:610251 | Alcohol sensitivity, acute | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:617874 | POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3 | | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALOX5 CL E G H | 240 | 435 | OMIM:600807 | Asthma, susceptibility to | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:615529 | Craniosynostosis 5, susceptibility to | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:609597 | Parietal foramina 2 | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AMTN CL E G H | 401138 | 33188 | OMIM:617607 | AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANG CL E G H | 283 | 483 | OMIM:611895 | Amyotrophic lateral sclerosis 9 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPT1 CL E G H | 284 | 484 | OMIM:619361 | ANGIOEDEMA, HEREDITARY, 5; HAE5 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPT2 CL E G H | 285 | 485 | OMIM:619369 | LYMPHATIC MALFORMATION 10; LMPHM10 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPTL4 CL E G H | 51129 | 16039 | OMIM:615881 | PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK2 CL E G H | 287 | 493 | OMIM:600919 | Cardiac arrhythmia, ankyrin-b-related | . | | | 539 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:118600 | Chondrocalcinosis 2 | . | | | 164 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:166260 | Gnathodiaphyseal dysplasia | . | | | 304 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:617839 | Amyotrophic lateral sclerosis 23 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANXA5 CL E G H | 308 | 543 | OMIM:614391 | Pregnancy loss, recurrent, susceptibility to, 3 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP1S3 CL E G H | 130340 | 18971 | OMIM:616106 | Psoriasis 15, pustular, susceptibility to | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP2M1 CL E G H | 1173 | 564 | OMIM:618587 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:184450 | Stuttering, familial persistent, 1 | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 583 | OMIM:114500 | Colorectal cancer | . | | | 3179 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | . | | | 3179 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 583 | OMIM:619182 | GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS | | | | 3179 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 600 | OMIM:619836 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE | | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:144650 | Hyperlipoproteinemia, type V | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 613 | OMIM:104310 | Alzheimer disease 2 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOL2 CL E G H | 23780 | 619 | OMIM:181500 | SCHIZOPHRENIA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOL4 CL E G H | 80832 | 14867 | OMIM:181500 | SCHIZOPHRENIA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 620 | OMIM:104300 | Alzheimer disease | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 620 | OMIM:605714 | Cerebral amyloid angiopathy, APP-related | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APPL1 CL E G H | 26060 | 24035 | OMIM:616511 | Maturity-onset diabetes of the young, type 14 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AR CL E G H | 367 | 644 | OMIM:176807 | Prostate cancer | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARFGEF1 CL E G H | 10565 | 15772 | OMIM:619964 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP26 CL E G H | 23092 | 17073 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGEF10 CL E G H | 9639 | 14103 | OMIM:608236 | Slowed nerve conduction velocity, autosomal dominant | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARL2 CL E G H | 402 | 693 | OMIM:619082 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | . | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASB10 CL E G H | 136371 | 17185 | OMIM:603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASPN CL E G H | 54829 | 14872 | OMIM:607850 | Hand osteoarthritis | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | . | | | 3267 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:125370 | Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | . | | | 239 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:614820 | Alternating hemiplegia of childhood 2 | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2B2 CL E G H | 491 | 815 | OMIM:619804 | DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2C1 CL E G H | 27032 | 13211 | OMIM:169600 | Benign chronic pemphigus | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | . | | | 168 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AURKA CL E G H | 6790 | 11393 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AVP CL E G H | 551 | 894 | OMIM:125700 | Diabetes insipidus, Neurohypophyseal type | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:114500 | Colorectal cancer | . | | | 435 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:613881 | Cardiomyopathy, dilated, 1hh | . | | | 204 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | . | | | 790 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAX CL E G H | 581 | 959 | OMIM:114500 | Colorectal cancer | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCO1 CL E G H | 53630 | 13815 | OMIM:115300 | Carotenemia, familial | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:153700 | Macular dystrophy, vitelliform, 2 | . | | | 182 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | | | | 182 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP1 CL E G H | 631 | 1040 | OMIM:611391 | Cataract 33, multiple types | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP2 CL E G H | 8419 | 1041 | OMIM:611597 | Cataract, autosomal dominant, multiple types 1 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BICC1 CL E G H | 80114 | 19351 | OMIM:601331 | Renal dysplasia, cystic, susceptibility to | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BLK CL E G H | 640 | 1057 | OMIM:613375 | Maturity-onset diabetes of the young, type 11 | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 385 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:610069 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 | | | | 385 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | . | | | 525 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:265450 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 | | | | 525 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMS1 CL E G H | 9790 | 23505 | OMIM:107600 | APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BNC1 CL E G H | 646 | 1081 | OMIM:618723 | PREMATURE OVARIAN FAILURE 16; POF16 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BNC2 CL E G H | 54796 | 30988 | OMIM:618612 | LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:114500 | Colorectal cancer | . | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | . | | | 5769 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | . | | | 7642 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | . | | | 7642 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 7642 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:176807 | Prostate cancer | . | | | 7642 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:194070 | Wilms tumor 1 | . | | | 7642 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | . | | | 1086 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BUB1 CL E G H | 699 | 1148 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:114500 | Colorectal cancer | . | | | 76 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C9 CL E G H | 735 | 1358 | OMIM:615591 | MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:617106 | Epileptic encephalopathy, early infantile, 42 | . | | | 449 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:611875 | BRUGADA SYNDROME 3; BRGDA3 | | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:618447 | LONG QT SYNDROME 8; LQT8 | | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1H CL E G H | 8912 | 1395 | OMIM:617027 | Hyperaldosteronism, familial, type IV | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 247 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | . | | | 247 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB2 CL E G H | 783 | 1402 | OMIM:611876 | BRUGADA SYNDROME 4; BRGDA4 | | | | 206 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | . | | | 146 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | . | | | 146 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNG2 CL E G H | 10369 | 1406 | OMIM:614256 | Mental retardation, autosomal dominant 10 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALCR CL E G H | 799 | 1440 | OMIM:166710 | OSTEOPOROSIS | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM1 CL E G H | 801 | 1442 | OMIM:616247 | Long QT syndrome 14 | | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM1 CL E G H | 801 | 1442 | OMIM:614916 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM2 CL E G H | 805 | 1445 | OMIM:616249 | Long QT syndrome 15 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM3 CL E G H | 808 | 1449 | OMIM:618782 | LONG QT SYNDROME 16; LQT16 | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 1455 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:602723 | PSORIASIS 2; PSORS2 | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARTPT CL E G H | 9607 | 24323 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASQ2 CL E G H | 845 | 1513 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 1514 | OMIM:145980 | Hypocalciuric hypercalcemia, familial, type I | . | | | 272 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:615343 | Pulmonary hypertension, primary, 3 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | . | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:611818 | Long QT syndrome 9 | | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | . | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 1541 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC50 CL E G H | 152137 | 18111 | OMIM:607453 | DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44 | | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCL11 CL E G H | 6356 | 10610 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCM2 CL E G H | 83605 | 21708 | OMIM:603284 | Cerebral cavernous malformations-2 | | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCNK CL E G H | 8812 | 1596 | OMIM:618147 | Intellectual developmental disorder with hypertelorism and distinctive facies | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD164 CL E G H | 8763 | 1632 | OMIM:616969 | DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145000 | Hyperparathyroidism 1 | . | | | 169 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:608266 | Parathyroid carcinoma | | | | 169 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:137215 | Gastric cancer, hereditary diffuse | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:176807 | Prostate cancer | . | | | 1003 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH15 CL E G H | 1013 | 1754 | OMIM:612580 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3 | | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618920 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:617540 | Pituitary adenoma 5, multiple types | . | | | 636 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDK4 CL E G H | 1019 | 1773 | OMIM:609048 | Melanoma, cutaneous malignant, susceptibility to, 3 | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155601 | Melanoma, cutaneous malignant, susceptibility to, 2 | . | | | 289 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | . | | | 289 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:606719 | Melanoma-Pancreatic cancer syndrome | . | | | 289 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:146520 | Hypotrichosis 2 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEACAM16 CL E G H | 388551 | 31948 | OMIM:614614 | Deafness, autosomal dominant 4B | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEBPA CL E G H | 1050 | 1833 | OMIM:601626 | Leukemia, acute myeloid | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEL CL E G H | 1056 | 1848 | OMIM:609812 | Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CELF2 CL E G H | 10659 | 2550 | OMIM:619561 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CELSR1 CL E G H | 9620 | 1850 | OMIM:619319 | LYMPHATIC MALFORMATION 9; LMPHM9 | | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CES1 CL E G H | 1066 | 1863 | OMIM:618057 | DRUG METABOLISM, ALTERED, CES1-RELATED | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFAP43 CL E G H | 80217 | 26684 | OMIM:236690 | Hydrocephalus, normal pressure, 1 | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:126700 | Basal laminar drusen | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:609814 | Complement factor H deficiency | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:610698 | Macular degeneration, age-related, 4 | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:211400 | Bronchiectasis with or without elevated sweat chloride 1 | . | | | 1371 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1371 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD2 CL E G H | 51142 | 21645 | OMIM:616710 | Parkinson disease 22, autosomal dominant | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD2 CL E G H | 1106 | 1917 | OMIM:615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | | | | 227 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | . | | | 833 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114500 | Colorectal cancer | . | | | 833 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:176807 | Prostate cancer | . | | | 833 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHI3L1 CL E G H | 1116 | 1932 | OMIM:181500 | SCHIZOPHRENIA | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHIC2 CL E G H | 26511 | 1935 | OMIM:601626 | Leukemia, acute myeloid | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP4B CL E G H | 128866 | 16171 | OMIM:605387 | Cataract 31, multiple types | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHN1 CL E G H | 1123 | 1943 | OMIM:604356 | DUANE RETRACTION SYNDROME 2; DURS2 | | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA2 CL E G H | 1135 | 1956 | OMIM:610353 | Epilepsy, nocturnal frontal lobe, 4 | . | | | 188 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA4 CL E G H | 1137 | 1958 | OMIM:600513 | Epilepsy, nocturnal frontal lobe, type 1 | | | | 225 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNB2 CL E G H | 1141 | 1962 | OMIM:605375 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3 | | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:617924 | Epilepsy, juvenile myoclonic, susceptibility to, 10 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CITED2 CL E G H | 10370 | 1987 | OMIM:614433 | ATRIAL SEPTAL DEFECT 8; ASD8 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CITED2 CL E G H | 10370 | 1987 | OMIM:614431 | Ventricular septal defect 2 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:160800 | Myotonia congenita, autosomal dominant | . | | | 133 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:607628 | Epilepsy with grand mal seizures on awakening | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLEC3B CL E G H | 7123 | 11891 | OMIM:619977 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPX CL E G H | 10845 | 2088 | OMIM:618015 | Protoporphyria, erythropoietic, 2 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:613882 | Hypomagnesemia 6, renal | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 103 | OMIM:616418 | Hypomagnesemia, seizures, and mental retardation | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:618533 | DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37 | | | | 215 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:601868 | Deafness, autosomal dominant nonsyndromic sensorineural 13 | . | | | 222 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | . | | | 222 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:184840 | Stickler syndrome, type III | . | | | 222 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:122400 | Epithelial recurrent erosion dystrophy | . | | | 129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166710 | OSTEOPOROSIS | . | | | 373 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | . | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166710 | OSTEOPOROSIS | . | | | 243 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:618564 | MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL | | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | . | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:141200 | Hematuria, benign familial | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:141200 | Hematuria, benign familial | . | | | 174 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131750 | Epidermolysis bullosa dystrophica, autosomal dominant | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131850 | Epidermolysis bullosa dystrophica, pretibial | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:604129 | Epidermolysis bullosa pruriginosa | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:132000 | Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 | | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131705 | Transient bullous dermolysis of the newborn | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL8A2 CL E G H | 1296 | 2216 | OMIM:136800 | Corneal dystrophy, fuchs endothelial, 1 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL8A2 CL E G H | 1296 | 2216 | OMIM:609140 | Corneal dystrophy, posterior polymorphous, 2 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614135 | Epiphyseal dysplasia, multiple, 6 | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMT CL E G H | 1312 | 2228 | OMIM:167870 | Panic disorder 1 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMT CL E G H | 1312 | 2228 | OMIM:181500 | SCHIZOPHRENIA | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CORIN CL E G H | 10699 | 19012 | OMIM:614595 | Preeclampsia/eclampsia 5 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614417 | Epilepsy, familial temporal lobe, 5 | . | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPSF1 CL E G H | 29894 | 2324 | OMIM:618827 | MYOPIA 27, AUTOSOMAL DOMINANT; MYP27 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:614212 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CREB3L3 CL E G H | 84699 | 18855 | OMIM:619324 | HYPERTRIGLYCERIDEMIA 2; HYTG2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRELD1 CL E G H | 78987 | 14630 | OMIM:606217 | Atrioventricular septal defect, susceptibility to, 2 | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | . | | | 158 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRY1 CL E G H | 1407 | 2384 | OMIM:614163 | Delayed sleep phase disorder, susceptibility to | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:615184 | Cardiomyopathy, dilated, 1ii | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613763 | Cataract, posterior polar, 2 | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA1 CL E G H | 1411 | 2394 | OMIM:600881 | Cataract, congenital zonular, with sutural opacities | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA2 CL E G H | 1412 | 2395 | OMIM:115900 | Cataract 42 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA4 CL E G H | 1413 | 2396 | OMIM:610425 | CATARACT 23, MULTIPLE TYPES; CTRCT23 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB3 CL E G H | 1417 | 2400 | OMIM:609741 | Cataract 22, multiple types | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGB CL E G H | 1419 | 2409 | OMIM:615188 | Cataract, multiple types | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGD CL E G H | 1421 | 2411 | OMIM:115700 | Cataract, crystalline aculeiform | . | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGS CL E G H | 1427 | 2417 | OMIM:116100 | Cataract, membranous | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYM CL E G H | 1428 | 2418 | OMIM:616357 | DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40 | | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSNK2B CL E G H | 1460 | 2460 | OMIM:618732 | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:607482 | CARDIOMYOPATHY, DILATED, 1M; CMD1M | | | | 104 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:612124 | Cardiomyopathy, familial hypertrophic, 12 | . | | | 104 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CST3 CL E G H | 1471 | 2475 | OMIM:105150 | Amyloidosis VI | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:617915 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:140300 | Hashimoto thyroiditis | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | . | | | 141 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNA3 CL E G H | 29119 | 2511 | OMIM:615616 | Arrhythmogenic right ventricular dysplasia, familial, 13 | . | | | 98 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114500 | Colorectal cancer | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:617572 | Exudative vitreoretinopathy 7 | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNND1 CL E G H | 1500 | 2515 | OMIM:617681 | Blepharocheilodontic syndrome 2 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTSB CL E G H | 1508 | 2527 | OMIM:148370 | Keratolytic winter erythema | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | . | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CUX1 CL E G H | 1523 | 2557 | OMIM:618330 | Global developmental delay with or without impaired intellectual development | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CUX2 CL E G H | 23316 | 19347 | OMIM:618141 | Epileptic encephalopathy, early infantile, 67 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CXCR4 CL E G H | 7852 | 2561 | OMIM:193670 | Whim syndrome | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYCS CL E G H | 54205 | 19986 | OMIM:612004 | Thrombocytopenia 4 | . | | | 82 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:605041 | Brooke-Spiegler syndrome | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:132700 | Cylindromatosis, familial | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:601606 | Trichoepithelioma, multiple familial, 1 | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | . | | | 112 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:139300 | Aromatase excess syndrome | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP2A6 CL E G H | 1548 | 2610 | OMIM:122700 | Coumarin resistance | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP2A6 CL E G H | 1548 | 2610 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP2C9 CL E G H | 1559 | 2623 | OMIM:122700 | Coumarin resistance | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DAOA CL E G H | 267012 | 21191 | OMIM:181500 | SCHIZOPHRENIA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCC CL E G H | 1630 | 2701 | OMIM:114500 | Colorectal cancer | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCC CL E G H | 1630 | 2701 | OMIM:157600 | Mirror movements 1 | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:607829 | Mitral valve prolapse, myxomatous 2 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DEPDC5 CL E G H | 9681 | 18423 | OMIM:604364 | Epilepsy, familial focal, with variable foci | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 2770 | OMIM:604765 | CARDIOMYOPATHY, DILATED, 1I; CMD1I | | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIABLO CL E G H | 56616 | 21528 | OMIM:614152 | Deafness, autosomal dominant 64 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:124900 | Deafness, autosomal dominant 1 | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIAPH3 CL E G H | 81624 | 15480 | OMIM:609129 | Auditory neuropathy, autosomal dominant, 1 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | . | | | 670 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIO1 CL E G H | 1733 | 2883 | OMIM:619855 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIP2B CL E G H | 57609 | 29284 | OMIM:136630 | Mental retardation, Fra12a type | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DISC2 CL E G H | 27184 | 2889 | OMIM:181500 | SCHIZOPHRENIA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLC1 CL E G H | 10395 | 2897 | OMIM:114500 | Colorectal cancer | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLL1 CL E G H | 28514 | 2908 | OMIM:618709 | NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLST CL E G H | 1743 | 2911 | OMIM:618475 | Paragangliomas 7 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:104510 | AMELOGENESIS IMPERFECTA, TYPE IV; AI4 | | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX3 CL E G H | 1747 | 2916 | OMIM:190320 | Trichodentoosseous syndrome | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:617605 | DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:127700 | Dyslexia, susceptibility to, 1 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:606482 | Charcot-Marie-Tooth disease, dominant intermediate B | . | | | 167 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:601626 | Leukemia, acute myeloid | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPP6 CL E G H | 1804 | 3010 | OMIM:616311 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 | | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPP6 CL E G H | 1804 | 3010 | OMIM:612956 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2 | | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:181500 | SCHIZOPHRENIA | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DRD4 CL E G H | 1815 | 3025 | OMIM:143465 | Attention deficit-hyperactivity disorder | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DRD5 CL E G H | 1816 | 3026 | OMIM:143465 | Attention deficit-hyperactivity disorder | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DRD5 CL E G H | 1816 | 3026 | OMIM:606798 | Blepharospasm, benign essential, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | . | | | 268 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | . | | | 358 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607450 | Arrhythmogenic right ventricular dysplasia, familial, 8 | . | | | 747 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | . | | | 747 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | . | | | 747 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:605594 | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125420 | Dentin dysplasia, type II | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125490 | Dentinogenesis imperfecta 1 | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | . | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYRK1B CL E G H | 9149 | 3092 | OMIM:615812 | Abdominal obesity-metabolic syndrome 3 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DZIP1 CL E G H | 22873 | 20908 | OMIM:610840 | MITRAL VALVE PROLAPSE 3; MVP3 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:614940 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN1 CL E G H | 1906 | 3176 | OMIM:612798 | Question mark ears, isolated | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613712 | Hirschsprung disease, susceptibility to, 4 | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600155 | Hirschsprung disease, susceptibility to, 2 | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFEMP1 CL E G H | 2202 | 3218 | OMIM:126600 | Doyne honeycomb retinal dystrophy | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFHC1 CL E G H | 114327 | 16406 | OMIM:607631 | Epilepsy, juvenile absence | . | | | 153 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFHC1 CL E G H | 114327 | 16406 | OMIM:254770 | Myoclonic epilepsy, juvenile, susceptibility to, 1 | . | | | 153 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 257 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGLN1 CL E G H | 54583 | 1232 | |