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 | OMIM:609820 | Erythrocytosis, familial, 3 | . | | | 128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EHHADH CL E G H | 1962 | 3247 | OMIM:615605 | Fanconi renotubular syndrome 3 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EIF2AK1 CL E G H | 27102 | 24921 | OMIM:618878 | LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:162800 | Cyclic neutropenia | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:619500 | DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 3327 | OMIM:185500 | Supravalvular aortic stenosis | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:600110 | STARGARDT DISEASE 3; STGD3 | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 133 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:104500 | Amelogenesis imperfecta, type IB | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | . | | | 151 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 151 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:601665 | OBESITY | . | | | 151 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:114500 | Colorectal cancer | . | | | 250 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHA2 CL E G H | 1969 | 3386 | OMIM:116600 | Cataract, posterior polar, 1 ctpa cataract, congenital total, included | | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:618196 | Capillary malformation-arteriovenous malformation 2 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:616946 | PREMATURE OVARIAN FAILURE 11; POF11 | | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERMARD CL E G H | 55780 | 21056 | OMIM:615544 | Periventricular nodular heterotopia 6 | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESR2 CL E G H | 2100 | 3468 | OMIM:618187 | Ovarian dysgenesis 8 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ETV6 CL E G H | 2120 | 3495 | OMIM:601626 | Leukemia, acute myeloid | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | . | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA4 CL E G H | 2070 | 3522 | OMIM:605362 | Cardiomyopathy, dilated, 1J | | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA4 CL E G H | 2070 | 3522 | OMIM:601316 | Deafness, autosomal dominant nonsyndromic sensorineural 10 | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F11 CL E G H | 2160 | 3529 | OMIM:612416 | Factor XI deficiency | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F2 CL E G H | 2147 | 3535 | OMIM:614390 | Pregnancy loss, recurrent, susceptibility to, 2 | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F2 CL E G H | 2147 | 3535 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F5 CL E G H | 2153 | 3542 | OMIM:614389 | Pregnancy loss, recurrent, susceptibility to, 1 | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F5 CL E G H | 2153 | 3542 | OMIM:188055 | Thrombophilia due to deficiency of activated protein C cofactor | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FASLG CL E G H | 356 | 11936 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN1 CL E G H | 2192 | 3600 | OMIM:608180 | Synpolydactyly 2 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:614434 | Cutis laxa, autosomal dominant 2 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:604308 | MASS SYNDROME | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:184900 | STIFF SKIN SYNDROME; SSKS | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:616118 | MACULAR DEGENERATION, EARLY-ONSET; EOMD | | | | 655 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBP2 CL E G H | 8789 | 3607 | OMIM:619864 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FDPS CL E G H | 2224 | 3631 | OMIM:616631 | Porokeratosis 9, multiple types | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:193100 | Hypophosphatemic rickets, autosomal dominant | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF9 CL E G H | 2254 | 3687 | OMIM:612961 | Multiple synostoses syndrome 3 | | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | . | | | 172 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:109800 | Bladder cancer | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:114500 | Colorectal cancer | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:612247 | Crouzon syndrome with acanthosis nigricans | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FH CL E G H | 2271 | 3700 | OMIM:150800 | Hereditary leiomyomatosis and renal cell cancer | . | | | 301 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612577 | Amyotrophic lateral sclerosis 11 | | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | | | | 332 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:114500 | Colorectal cancer | . | | | 332 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:173600 | Pneumothorax, primary spontaneous | . | | | 332 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | . | | | 233 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | . | | | 197 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | . | | | 197 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT3 CL E G H | 2322 | 3765 | OMIM:601626 | Leukemia, acute myeloid | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXD3 CL E G H | 27022 | 3804 | OMIM:607836 | Autoimmune disease, susceptibility to, 1 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:617349 | AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 | | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:608996 | Premature ovarian failure 3 | | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXP2 CL E G H | 93986 | 13875 | OMIM:602081 | Speech-language disorder-1 | . | | | 143 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:614485 | Trigonocephaly 2 | . | | | 198 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FRMD5 CL E G H | 84978 | 28214 | OMIM:620094 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FSHR CL E G H | 2492 | 3969 | OMIM:608115 | Ovarian hyperstimulation syndrome | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTH1 CL E G H | 2495 | 3976 | OMIM:615517 | Hemochromatosis, type 5 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 3999 | OMIM:600886 | Hyperferritinemia with or without cataract | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 3999 | OMIM:615604 | L-ferritin deficiency, dominant and recessive | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FUS CL E G H | 2521 | 4010 | OMIM:608030 | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | | | | 105 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FUS CL E G H | 2521 | 4010 | OMIM:614782 | TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 | | | | 105 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB1 CL E G H | 2560 | 4081 | OMIM:617153 | Epileptic encephalopathy, early infantile, 45 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:612269 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5 | | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRD CL E G H | 2563 | 4084 | OMIM:613060 | Epilepsy, idiopathic generalized, 10 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:618396 | Epileptic encephalopathy, early infantile, 74 | . | | | 139 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:607681 | Febrile seizures, familial, 8 | . | | | 139 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GAL CL E G H | 51083 | 4114 | OMIM:616461 | Epilepsy, familial temporal lobe, 8 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:601626 | Leukemia, acute myeloid | . | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | . | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:607941 | Atrial septal defect 2 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:614430 | Atrioventricular septal defect 4 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:614429 | Ventricular septal defect 1 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:614475 | Atrial septal defect 9 | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:614474 | Atrioventricular septal defect 5 | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:127750 | Dementia, lewy body | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125851 | Maturity-onset diabetes of the young, type II | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF2 CL E G H | 2658 | 4217 | OMIM:615506 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613704 | Microphthalmia, isolated 7 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613094 | MICROPHTHALMIA, ISOLATED 4; MCOP4 | | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:617898 | Multiple synostoses syndrome 4 | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDNF CL E G H | 2668 | 4232 | OMIM:613711 | Hirschsprung disease, susceptibility to, 3 | . | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | . | | | 188 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:607847 | Neutropenia, nonimmune chronic idiopathic, of adults | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GFI1 CL E G H | 2672 | 4237 | OMIM:613107 | Neutropenia, severe congenital, 2, autosomal dominant | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GHR CL E G H | 2690 | 4263 | OMIM:604271 | Growth hormone insensitivity, partial | . | | | 98 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GHRL CL E G H | 51738 | 18129 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:600309 | Atrioventricular septal defect 3 | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA3 CL E G H | 2700 | 4277 | OMIM:601885 | Cataract, zonular pulverulent 3 | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:614049 | Atrial fibrillation, familial, 11 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:108770 | Atrial standstill 1 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:601544 | Deafness, autosomal dominant nonsyndromic sensorineural 3 | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:612644 | Deafness, autosomal dominant 2B | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:612643 | Deafness, autosomal dominant 3B | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613480 | Lymphedema, hereditary, IC | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:174200 | Polydactyly, postaxial, type A1 | . | | | 270 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:174700 | Polydactyly, preaxial IV | . | | | 270 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLMN CL E G H | 11146 | 14373 | OMIM:138000 | Glomuvenous malformations | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:615361 | Hypocalcemia, autosomal dominant 2 | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAI2 CL E G H | 2771 | 4385 | OMIM:192605 | Ventricular tachycardia, familial | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:615473 | Epileptic encephalopathy, early infantile, 17 | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAQ CL E G H | 2776 | 4390 | OMIM:163000 | Nevi flammei, familial multiple | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:610444 | Night blindness, congenital stationary, autosomal dominant 3 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619464 | SICK SINUS SYNDROME 4; SSS4 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:177820 | Pseudo-Von willebrand disease | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:194070 | Wilms tumor 1 | . | | | 73 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:194070 | Wilms tumor 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPD1L CL E G H | 23171 | 28956 | OMIM:611777 | BRUGADA SYNDROME 2; BRGDA2 | | | | 97 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPD2 CL E G H | 2820 | 4456 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GPR161 CL E G H | 23432 | 23694 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:619274 | DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GREM2 CL E G H | 64388 | 17655 | OMIM:617275 | Tooth agenesis, selective, 9 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:618031 | Corneal dystrophy, posterior polymorphous, 4 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:608641 | Deafness, autosomal dominant nonsyndromic sensorineural 28 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRHL3 CL E G H | 57822 | 25839 | OMIM:606713 | Van der woude syndrome 2 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | . | | | 274 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | . | | | 274 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GSDME CL E G H | 1687 | 2810 | OMIM:600994 | Deafness, autosomal dominant nonsyndromic sensorineural 5 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GSN CL E G H | 2934 | 4620 | OMIM:105120 | Amyloidosis, Finnish type | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | . | | | 24 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GUCA1B CL E G H | 2979 | 4679 | OMIM:613827 | RETINITIS PIGMENTOSA 48; RP48 | | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614616 | Diarrhea 6 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H19 CL E G H | 283120 | 4713 | OMIM:194070 | Wilms tumor 1 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H19-ICR CL E G H | 105259599 | | OMIM:194071 | Multiple tumor-associated chromosome region 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:616535 | Thyroid cancer, nonmedullary, 5 | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:140700 | Heinz body anemias | . | | | 200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617973 | METHEMOGLOBINEMIA, ALPHA TYPE | | | | 200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:140700 | Heinz body anemias | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 580 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:140700 | Heinz body anemias | . | | | 580 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617971 | Methemoglobinemia, Beta type | . | | | 580 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBG1 CL E G H | 3047 | 4831 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:615871 | Epileptic encephalopathy, early infantile, 24 | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:618482 | Generalized epilepsy with febrile seizures plus, type 10 | | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCN2 CL E G H | 610 | 4846 | OMIM:602477 | Febrile seizures, familial, 2 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:619521 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18 | | | | 185 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | . | | | 185 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HCRT CL E G H | 3060 | 4847 | OMIM:161400 | Narcolepsy 1 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613926 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | . | | | 82 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HFE CL E G H | 3077 | 4886 | OMIM:104300 | Alzheimer disease | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176200 | Porphyria variegata | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HLA-G CL E G H | 3135 | 4964 | OMIM:600807 | Asthma, susceptibility to | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HMGA1 CL E G H | 3159 | 5010 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HMGA2 CL E G H | 8091 | 5009 | OMIM:618908 | SILVER-RUSSELL SYNDROME 5; SRS5 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:600496 | Maturity-onset diabetes of the young, type III | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125850 | Maturity-onset diabetes of the young, type 1 | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:600807 | Asthma, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615426 | Amyotrophic lateral sclerosis 20 | | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HNRNPU CL E G H | 3192 | 5048 | OMIM:617391 | Epileptic encephalopathy, early infantile, 54 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOMER2 CL E G H | 9455 | 17513 | OMIM:616707 | DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXD10 CL E G H | 3236 | 5133 | OMIM:192950 | Vertical talus, congenital | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HPD CL E G H | 3242 | 5147 | OMIM:140350 | HAWKINSINURIA | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:109800 | Bladder cancer | . | | | 113 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 113 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HRG CL E G H | 3273 | 5181 | OMIM:613116 | Thrombophilia due to histidine-rich glycoprotein deficiency | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HRURF CL E G H | 120766137 | 55085 | OMIM:146550 | Marie unna hereditary hypotrichosis 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HS3ST6 CL E G H | 64711 | 14178 | OMIM:619367 | ANGIOEDEMA, HEREDITARY, 8; HAE8 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSD11B1 CL E G H | 3290 | 5208 | OMIM:614662 | Cortisone reductase deficiency 2 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSF4 CL E G H | 3299 | 5227 | OMIM:116800 | Cataract, lamellar | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:608673 | Charcot-Marie-Tooth disease, axonal, type 2L | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:158590 | Neuronopathy, distal hereditary motor, type IIA | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:181500 | SCHIZOPHRENIA | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IDH1 CL E G H | 3417 | 5382 | OMIM:137800 | Glioma susceptibility 1 | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IDH2 CL E G H | 3418 | 5383 | OMIM:613657 | D-2-hydroxyglutaric aciduria 2 | | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IFITM5 CL E G H | 387733 | 16644 | OMIM:610967 | Osteogenesis imperfecta, type V | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:194070 | Wilms tumor 1 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IGF2BP2 CL E G H | 10644 | 28867 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IKZF5 CL E G H | 64376 | 14283 | OMIM:619130 | THROMBOCYTOPENIA 7; THC7 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL13 CL E G H | 3596 | 5973 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL31RA CL E G H | 133396 | 18969 | OMIM:613955 | Amyloidosis, primary localized cutaneous, 2 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL4R CL E G H | 3566 | 6015 | OMIM:147050 | Ige responsiveness, atopic | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:148000 | Kaposi sarcoma, susceptibility to | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:613837 | Leber congenital amaurosis 11 | | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IMPG1 CL E G H | 3617 | 6055 | OMIM:616151 | Macular dystrophy, vitelliform, 4 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:616152 | Macular dystrophy, vitelliform, 5 | . | | | 120 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INS CL E G H | 3630 | 6081 | OMIM:125852 | Diabetes mellitus, insulin-dependent, 2 | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INS CL E G H | 3630 | 6081 | OMIM:616214 | Hyperproinsulinemia | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INSL3 CL E G H | 3640 | 6086 | OMIM:219050 | Cryptorchidism, unilateral or bilateral | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF1 CL E G H | 3659 | 6116 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF3 CL E G H | 3661 | 6118 | OMIM:616532 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:608864 | Orofacial cleft 6, susceptibility to | . | | | 99 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119300 | van der Woude syndrome 1 | . | | | 99 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:614893 | IMMUNODEFICIENCY 32A; IMD32A | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRS1 CL E G H | 3667 | 6125 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IRS2 CL E G H | 8660 | 6126 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619271 | BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24 | | | | 80 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:176500 | Cerebral amyloid angiopathy, itm2b-related, 1 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:117300 | Dementia, familial danish | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | . | | | 257 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:601626 | Leukemia, acute myeloid | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:614521 | Thrombocythemia 3 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | JUP CL E G H | 3728 | 6207 | OMIM:611528 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 | | | | 222 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNA2 CL E G H | 3737 | 6220 | OMIM:616366 | Epileptic encephalopathy, early infantile, 32 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNA5 CL E G H | 3741 | 6224 | OMIM:612240 | Atrial fibrillation, familial, 7 | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNB1 CL E G H | 3745 | 6231 | OMIM:616056 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 | | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNC1 CL E G H | 3746 | 6233 | OMIM:616187 | Epilepsy, progressive myoclonic 7 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:616399 | Brugada syndrome 9 | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNE1 CL E G H | 3753 | 6240 | OMIM:613695 | Long QT syndrome 5 | . | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:611493 | ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 | | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:613693 | Long QT syndrome 6 | . | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNE3 CL E G H | 10008 | 6243 | OMIM:613119 | BRUGADA SYNDROME 6; BRGDA6 | | | | 73 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | . | | | 901 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:609620 | SHORT QT SYNDROME 1; SQT1 | | | | 901 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 127 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | . | | | 127 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | . | | | 127 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:613980 | Atrial fibrillation, familial, 9 | . | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:609622 | SHORT QT SYNDROME 3; SQT3 | | | | 193 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | . | | | 128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNK18 CL E G H | 338567 | 19439 | OMIM:613656 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618596 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16 | | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:609446 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | . | | | 114 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNMB1 CL E G H | 3779 | 6285 | OMIM:608622 | HYPERTENSION, DIASTOLIC, RESISTANCE TO | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | . | | | 730 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:192500 | LONG QT SYNDROME 1; LQT1 | | | | 730 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:609621 | Short QT syndrome 2 | | | | 730 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:613720 | Epileptic encephalopathy, early infantile, 7 | . | | | 528 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:121200 | Seizures, benign familial neonatal, 1 | . | | | 528 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ3 CL E G H | 3786 | 6297 | OMIM:121201 | Epilepsy, benign neonatal, 2 | . | | | 302 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ4 CL E G H | 9132 | 6298 | OMIM:600101 | Deafness, autosomal dominant nonsyndromic sensorineural 2 | . | | | 76 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:615005 | Epilepsy, nocturnal frontal lobe, 5 | . | | | 321 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCNT2 CL E G H | 343450 | 18866 | OMIM:617771 | Epileptic encephalopathy, early infantile, 57 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KDR CL E G H | 3791 | 6307 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | | | | 276 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | . | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF23 CL E G H | 9493 | 6392 | OMIM:105600 | Anemia, dyserythropoietic congenital, type III | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF2A CL E G H | 3796 | 6318 | OMIM:615411 | Cortical dysplasia, complex, with other brain malformations 3 | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617921 | Amyotrophic lateral sclerosis, susceptibility to, 25 | . | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:176400 | Precocious puberty, central | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIT CL E G H | 3815 | 6342 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 327 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIT CL E G H | 3815 | 6342 | OMIM:601626 | Leukemia, acute myeloid | . | | | 327 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | . | | | 327 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | . | | | 327 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:616697 | DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:111150 | BLOOD GROUP--LUTHERAN INHIBITOR; INLU | | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLF11 CL E G H | 8462 | 11811 | OMIM:610508 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 | | | | 78 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLF6 CL E G H | 1316 | 2235 | OMIM:176807 | Prostate cancer | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLHL10 CL E G H | 317719 | 18829 | OMIM:615081 | SPERMATOGENIC FAILURE 11; SPGF11 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KLHL7 CL E G H | 55975 | 15646 | OMIM:612943 | Retinitis pigmentosa 42 | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2C CL E G H | 58508 | 13726 | OMIM:617768 | Kleefstra syndrome 2 | . | | | 99 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KNG1 CL E G H | 3827 | 6383 | OMIM:619363 | ANGIOEDEMA, HEREDITARY, 6; HAE6 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:109800 | Bladder cancer | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:601626 | Leukemia, acute myeloid | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:260350 | Pancreatic cancer | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | . | | | 92 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:146590 | Ichthyosis hystrix, Curth-Macklin type | . | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:146600 | Ichthyosis hystrix gravior | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT13 CL E G H | 3860 | 6415 | OMIM:615785 | White sponge nevus 2 | . | | | 46 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131900 | Epidermolysis bullosa simplex, Koebner type | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131800 | Epidermolysis bullosa simplex, Weber-Cockayne type | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:613000 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:184500 | Steatocystoma multiplex | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT4 CL E G H | 3851 | 6441 | OMIM:193900 | White sponge nevus 1 | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:179850 | Dowling-Degos disease | . | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619588 | EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B | | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619594 | EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C | | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:609352 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA | | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 173 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT71 CL E G H | 112802 | 28927 | OMIM:615896 | Hypotrichosis 13 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:613981 | Hypotrichosis 3 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:194300 | Woolly hair, autosomal dominant | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LAMA4 CL E G H | 3910 | 6484 | OMIM:615235 | Cardiomyopathy, dilated, 1jj | . | | | 279 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:104530 | Amelogenesis imperfecta, type IA | . | | | 167 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | . | | | 286 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LEMD3 CL E G H | 23592 | 28887 | OMIM:166700 | Buschke-Ollendorff syndrome | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LGR4 CL E G H | 55366 | 13299 | OMIM:619613 | DELAYED PUBERTY, SELF-LIMITED; DPSL | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:617863 | | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:135750 | Laurin-Sandrow syndrome | . | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:188740 | Tibia, hypoplasia or aplasia of, with polydactyly | . | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:115200 | Cardiomyopathy, dilated, 1A | | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMX1A CL E G H | 4009 | 6653 | OMIM:601412 | Deafness, autosomal dominant nonsyndromic sensorineural 7 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:600790 | Chorioretinal atrophy, progressive bifocal | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:136550 | Macular dystrophy, retinal, 1, north Carolina type | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LORICRIN CL E G H | 4014 | 6663 | OMIM:604117 | Vohwinkel syndrome, variant form | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LOX CL E G H | 4015 | 6664 | OMIM:617168 | Aortic aneurysm, familial thoracic 10 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | . | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LPP CL E G H | 4026 | 6679 | OMIM:601626 | Leukemia, acute myeloid | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:144750 | Hyperostosis, endosteal | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:607634 | Osteopetrosis, autosomal dominant 1 | | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:166710 | OSTEOPOROSIS | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:617875 | Polycystic liver disease 4 with or without kidney cysts | | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | . | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:616724 | Tooth agenesis, selective, 7 | . | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRRC8A CL E G H | 56262 | 19027 | OMIM:613506 | Agammaglobulinemia 5, autosomal dominant | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:615670 | Schwannomatosis 2 | . | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAD1L1 CL E G H | 8379 | 6762 | OMIM:176807 | Prostate cancer | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:617041 | Duane retraction syndrome 3 with or without deafness | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:619808 | DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP3K1 CL E G H | 4214 | 6848 | OMIM:613762 | 46,xy sex reversal 6 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAP3K8 CL E G H | 1326 | 6860 | OMIM:211980 | Lung cancer, susceptibility to | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPK8IP1 CL E G H | 9479 | 6882 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPKAPK3 CL E G H | 7867 | 6888 | OMIM:617111 | Macular dystrophy, patterned, 3 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAST1 CL E G H | 22983 | 19034 | OMIM:618273 | Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAT1A CL E G H | 4143 | 6903 | OMIM:250850 | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY | . | | | 82 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MCC CL E G H | 4163 | 6935 | OMIM:114500 | Colorectal cancer | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MCM6 CL E G H | 4175 | 6949 | OMIM:223100 | LACTOSE INTOLERANCE, ADULT TYPE | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEF2A CL E G H | 4205 | 6993 | OMIM:608320 | Coronary artery disease, autosomal dominant, 1 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MET CL E G H | 4233 | 7029 | OMIM:620019 | | | | | 375 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MET CL E G H | 4233 | 7029 | OMIM:607278 | Osteofibrous dysplasia, susceptibility to | . | | | 375 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MET CL E G H | 4233 | 7029 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | 375 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | METTL13 CL E G H | 51603 | 24248 | OMIM:605429 | DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MFAP5 CL E G H | 8076 | 29673 | OMIM:616166 | AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIB1 CL E G H | 57534 | 21086 | OMIM:615092 | Left ventricular noncompaction 7 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIP CL E G H | 4284 | 7103 | OMIM:615274 | Cataract 15, multiple types | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MIR96 CL E G H | 407053 | 31648 | OMIM:613074 | Deafness, autosomal dominant 50 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MITF CL E G H | 4286 | 7105 | OMIM:614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 | | | | 91 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | . | | | 91 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:609310 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 | | | | 1819 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:114500 | Colorectal cancer | . | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:614385 | Colorectal cancer, hereditary nonpolyposis, type 7 | . | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLH3 CL E G H | 27030 | 7128 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLLT10 CL E G H | 8028 | 16063 | OMIM:601626 | Leukemia, acute myeloid | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MOG CL E G H | 4340 | 7197 | OMIM:614250 | Narcolepsy 7 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPL CL E G H | 4352 | 7217 | OMIM:601977 | THROMBOCYTHEMIA 2; THCYT2 | | | | 97 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPO CL E G H | 4353 | 7218 | OMIM:104300 | Alzheimer disease | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MRAP2 CL E G H | 112609 | 21232 | OMIM:615457 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MS4A2 CL E G H | 2206 | 7316 | OMIM:147050 | Ige responsiveness, atopic | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:120435 | Lynch syndrome I | . | | | 2162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | . | | | 2232 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:608089 | Endometrial carcinoma, somatic | . | | | 2232 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MST1R CL E G H | 4486 | 7381 | OMIM:617075 | Nasopharyngeal carcinoma, susceptibility to, 3 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:608874 | OROFACIAL CLEFT 5; OFC5 | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:106600 | Tooth agenesis, selective, 1 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:168500 | Parietal foramina | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:168550 | Parietal foramina with cleidocranial dysplasia | | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:181500 | SCHIZOPHRENIA | . | | | 183 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 183 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTNR1B CL E G H | 4544 | 7464 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTSS2 CL E G H | 92154 | 25094 | OMIM:620086 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MTTP CL E G H | 4547 | 7467 | OMIM:605552 | Abdominal obesity-metabolic syndrome 1 | . | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 133 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MUC7 CL E G H | 4589 | 7518 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MVD CL E G H | 4597 | 7529 | OMIM:614714 | POROKERATOSIS 7, MULTIPLE TYPES; POROK7 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MVK CL E G H | 4598 | 7530 | OMIM:175900 | Porokeratosis 3, multiple types | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MXI1 CL E G H | 4601 | 7534 | OMIM:176807 | Prostate cancer | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:615396 | Left ventricular noncompaction 10 | . | | | 1143 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | | | | 418 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:600652 | Deafness, autosomal dominant nonsyndromic sensorineural 4 | . | | | 227 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | . | | | 227 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | . | | | 105 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | . | | | 166 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | | | | 166 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:614089 | ATRIAL SEPTAL DEFECT 3; ASD3 | | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613252 | Cardiomyopathy, dilated, 1ee | | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | . | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | . | | | 1269 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:608837 | CARNEY COMPLEX VARIANT | | | | 93 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:603622 | Deafness, autosomal dominant nonsyndromic sensorineural 17 | . | | | 297 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | . | | | 297 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYL3 CL E G H | 4634 | 7584 | OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | . | | | 95 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYL4 CL E G H | 4635 | 7585 | OMIM:617280 | Atrial fibrillation, familial, 18 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYLK CL E G H | 4638 | 7590 | OMIM:613780 | AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 | | | | 326 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYLK2 CL E G H | 85366 | 16243 | OMIM:192600 | Cardiomyopathy, familial hypertrophic 1 | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYO6 CL E G H | 4646 | 7605 | OMIM:606346 | Deafness, autosomal dominant 22 | . | | | 179 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYO7A CL E G H | 4647 | 7606 | OMIM:601317 | Deafness, autosomal dominant nonsyndromic sensorineural 11 | . | | | 516 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOC CL E G H | 4653 | 7610 | OMIM:137750 | Glaucoma 1, open angle, A | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOF CL E G H | 26509 | 3656 | OMIM:619366 | ANGIOEDEMA, HEREDITARY, 7; HAE7 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYOZ2 CL E G H | 51778 | 1330 | OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | . | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | . | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618113 | Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NAA15 CL E G H | 80155 | 30782 | OMIM:617787 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NANOS1 CL E G H | 340719 | 23044 | OMIM:615413 | SPERMATOGENIC FAILURE 12; SPGF12 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NCDN CL E G H | 23154 | 17597 | OMIM:619373 | NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NCSTN CL E G H | 23385 | 17091 | OMIM:142690 | Acne inversa, familial | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEDD4L CL E G H | 23327 | 7728 | OMIM:617201 | Periventricular nodular heterotopia 7 | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | . | | | 101 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:606394 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613122 | Cardiomyopathy, dilated, 1cc | . | | | 167 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | . | | | 167 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 1952 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | . | | | 1952 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | . | | | 1952 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 220 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | . | | | 220 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:162091 | SCHWANNOMATOSIS | . | | | 220 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFIB CL E G H | 4781 | 7785 | OMIM:618286 | Macrocephaly, acquired, with impaired intellectual development | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NHERF1 CL E G H | 9368 | 11075 | OMIM:612287 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:118700 | Chorea, benign hereditary | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:225250 | Hypothyroidism, congenital, nongoitrous, 5 | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614432 | Ventricular septal defect 3 | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLGN1 CL E G H | 22871 | 14291 | OMIM:618830 | Autism, susceptibility to, 20 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616115 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4 | | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOBOX CL E G H | 135935 | 22448 | OMIM:611548 | Premature ovarian failure 5 | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:104300 | Alzheimer disease | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:189800 | Preeclampsia/eclampsia 1 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | . | | | 452 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:615293 | MYOFIBROMATOSIS, INFANTILE, 2; IMF2 | | | | 144 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPM1 CL E G H | 4869 | 7910 | OMIM:601626 | Leukemia, acute myeloid | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPPA CL E G H | 4878 | 7939 | OMIM:612201 | Atrial fibrillation, familial, 6 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:616255 | Short stature with nonspecific skeletal abnormalities | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPRL2 CL E G H | 10641 | 24969 | OMIM:617116 | Epilepsy, familial focal, with variable foci 2 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NPRL3 CL E G H | 8131 | 14124 | OMIM:617118 | Epilepsy, familial focal, with variable foci 3 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR0B2 CL E G H | 8431 | 7961 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR3C1 CL E G H | 2908 | 7978 | OMIM:615962 | Glucocorticoid resistance, generalized | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:617480 | 46,xx sex reversal 4 | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:613957 | Spermatogenic failure 8 | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:114500 | Colorectal cancer | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NSF CL E G H | 4905 | 8016 | OMIM:619340 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NTN1 CL E G H | 9423 | 8029 | OMIM:618264 | MIRROR MOVEMENTS 4; MRMV4 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NUDT15 CL E G H | 55270 | 23063 | OMIM:616903 | THIOPURINES, POOR METABOLISM OF, 2; THPM2 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:601626 | Leukemia, acute myeloid | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | NUTM2B-AS1 CL E G H | 101060691 | 51204 | OMIM:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 | | | | 163 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPN1SW CL E G H | 611 | 1012 | OMIM:190900 | TRITANOPIA | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:137760 | Glaucoma, primary open angle | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OSBPL2 CL E G H | 9885 | 15761 | OMIM:616340 | DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OSMR CL E G H | 9180 | 8507 | OMIM:105250 | Amyloidosis, primary localized cutaneous, 1 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | . | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | P2RX2 CL E G H | 22953 | 15459 | OMIM:608224 | Deafness, autosomal dominant 41 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | P4HA2 CL E G H | 8974 | 8547 | OMIM:617238 | Myopia 25, autosomal dominant | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | P4HB CL E G H | 5034 | 8548 | OMIM:112240 | Cole-Carpenter syndrome 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | OMIM:607432 | Lissencephaly 1 | . | | | 231 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | . | | | 1349 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PALLD CL E G H | 23022 | 17068 | OMIM:606856 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | | | | 192 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PANK4 CL E G H | 55229 | 19366 | OMIM:619593 | CATARACT 49; CTRCT49 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PANX1 CL E G H | 24145 | 8599 | OMIM:618550 | OOCYTE MATURATION DEFECT 7; OOMD7 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:122880 | Craniofacial-Deafness-Hand syndrome | . | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612225 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 | | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120430 | Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included | . | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:136520 | Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included | . | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:148190 | Keratitis, hereditary | . | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:165550 | OPTIC NERVE HYPOPLASIA, BILATERAL | | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | . | | | 194 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PAX9 CL E G H | 5083 | 8623 | OMIM:604625 | Tooth agenesis, selective, 3 | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDCD10 CL E G H | 11235 | 8761 | OMIM:603285 | Cerebral cavernous malformations 3 | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE1C CL E G H | 5137 | 8776 | OMIM:618140 | Deafness, autosomal dominant 74 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE3A CL E G H | 5139 | 8778 | OMIM:112410 | Hypertension and brachydactyly syndrome | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:163500 | Night blindness, congenital stationary, autosomal dominant 2 | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:614190 | Pigmented nodular adrenocortical disease, primary, 3 | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:175510 | Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | | | | 337 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:228550 | Myofibromatosis, infantile, 1 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDLIM4 CL E G H | 8572 | 16501 | OMIM:166710 | OSTEOPOROSIS | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:606392 | Maturity-onset diabetes of the young, type 4 | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PER2 CL E G H | 8864 | 8846 | OMIM:604348 | Advanced sleep phase syndrome, familial, 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PER3 CL E G H | 8863 | 8847 | OMIM:616882 | Advanced sleep phase syndrome, familial, 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PFN1 CL E G H | 5216 | 8881 | OMIM:614808 | AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18 | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHF21A CL E G H | 51317 | 24156 | OMIM:618725 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:613013 | Neuroblastoma, susceptibility to, 2 | . | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PICALM CL E G H | 8301 | 15514 | OMIM:601626 | Leukemia, acute myeloid | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615399 | Paroxysmal nocturnal hemoglobinuria 2 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | . | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:619538 | CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4 | | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114500 | Colorectal cancer | . | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | . | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIK3R2 CL E G H | 5296 | 8980 | OMIM:603387 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PIKFYVE CL E G H | 200576 | 23785 | OMIM:121850 | Corneal fleck dystrophy | . | | | 112 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | . | | | 135 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:186550 | Synostosis, carpal, with dysplastic elbow joints and brachydactyly | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180550 | Ring dermoid of cornea | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:610623 | Cataract 11, multiple types | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | . | | | 342 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:102900 | Adenosine triphosphate, elevated, of erythrocytes | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PKP2 CL E G H | 5318 | 9024 | OMIM:609040 | Arrhythmogenic right ventricular dysplasia, familial, 9 | . | | | 406 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLA2G2A CL E G H | 5320 | 9031 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:147050 | Ige responsiveness, atopic | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLAG1 CL E G H | 5324 | 9045 | OMIM:181030 | Salivary gland adenoma, pleomorphic | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLAG1 CL E G H | 5324 | 9045 | OMIM:618907 | SILVER-RUSSELL SYNDROME 4; SRS4 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:104300 | Alzheimer disease | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:601709 | Quebec platelet disorder | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLCD1 CL E G H | 5333 | 9060 | OMIM:151600 | Nail disorder, nonsyndromic congenital, 3 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | . | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | . | | | 759 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLG CL E G H | 5340 | 9071 | OMIM:619360 | ANGIOEDEMA, HEREDITARY, 4; HAE4 | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLN CL E G H | 5350 | 9080 | OMIM:609909 | Cardiomyopathy, dilated, 1P | | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PLS1 CL E G H | 5357 | 9090 | OMIM:618787 | DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMS1 CL E G H | 5378 | 9121 | OMIM:120435 | Lynch syndrome I | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:614337 | Colorectal cancer, hereditary nonpolyposis, type 4 | . | | | 1121 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PMVK CL E G H | 10654 | 9141 | OMIM:175800 | Porokeratosis 1, multiple types | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POFUT1 CL E G H | 23509 | 14988 | OMIM:615327 | Dowling-Degos disease 2 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:615696 | Dowling-Degos disease 4 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | . | | | 731 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | . | | | 1129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR1B CL E G H | 84172 | 20454 | OMIM:618939 | TREACHER COLLINS SYNDROME 4; TCS4 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLR3F CL E G H | 10621 | 15763 | OMIM:619872 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POMC CL E G H | 5443 | 9201 | OMIM:601665 | OBESITY | . | | | 27 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:616568 | Glioma susceptibility 9 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:615848 | Melanoma, cutaneous malignant, susceptibility to, 10 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POU4F3 CL E G H | 5459 | 9220 | OMIM:602459 | Deafness, autosomal dominant 15 | . | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | POU6F2 CL E G H | 11281 | 21694 | OMIM:601583 | Wilms tumor 5 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:601665 | OBESITY | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPOX CL E G H | 5498 | 9280 | OMIM:176200 | Porphyria variegata | . | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP1R3A CL E G H | 5506 | 9291 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2R1B CL E G H | 5519 | 9303 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618420 | Spermatogenic failure 36 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:618265 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRCC CL E G H | 5546 | 9343 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRDM16 CL E G H | 63976 | 14000 | OMIM:615373 | Left ventricular noncompaction 8 | . | | | 148 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRDM6 CL E G H | 93166 | 9350 | OMIM:617039 | Patent ductus arteriosus 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619871 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRIMPOL CL E G H | 201973 | 26575 | OMIM:615420 | Myopia 22, autosomal dominant | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:619142 | CARDIOACROFACIAL DYSPLASIA 1; CAFD1 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | . | | | 235 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:194200 | WOLFF-PARKINSON-WHITE SYNDROME | | | | 235 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:255960 | Myxoma, intracardiac | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKG1 CL E G H | 5592 | 9414 | OMIM:615436 | AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 | | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRLR CL E G H | 5618 | 9446 | OMIM:615555 | HYPERPROLACTINEMIA | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRLR CL E G H | 5618 | 9446 | OMIM:615554 | MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:606688 | Spongiform encephalopathy with neuropsychiatric features | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROC CL E G H | 5624 | 9451 | OMIM:176860 | Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:600850 | Schizophrenia 4 | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:603786 | Stargardt disease 4 | . | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:612336 | Thrombophilia, hereditary, due to protein S deficiency, autosomal | . | | | 75 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPF3 CL E G H | 9129 | 17348 | OMIM:601414 | Retinitis pigmentosa 18 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPF4 CL E G H | 9128 | 17349 | OMIM:615922 | Retinitis pigmentosa 70 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPF6 CL E G H | 24148 | 15860 | OMIM:613983 | Retinitis pigmentosa 60 | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:613105 | Choroidal dystrophy, central areolar 2 | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:169150 | Macular dystrophy, patterned, 1 | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | . | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:602066 | Convulsions, familial infantile, with paroxysmal choreoathetosis | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:128200 | Episodic kinesigenic dyskinesia 1 | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:605751 | Seizures, benign familial infantile, 2 | . | | | 94 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | . | | | 51 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | . | | | 59 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | . | | | 948 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 948 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:176807 | Prostate cancer | . | | | 948 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:125350 | Dental noneruption | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN1 CL E G H | 5770 | 9642 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:156250 | METACHONDROMATOSIS | . | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN12 CL E G H | 5782 | 9645 | OMIM:114500 | Colorectal cancer | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPRJ CL E G H | 5795 | 9673 | OMIM:114500 | Colorectal cancer | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PTPRQ CL E G H | 374462 | 9679 | OMIM:617663 | Deafness, autosomal dominant 73 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RABL3 CL E G H | 285282 | 18072 | OMIM:618680 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAC3 CL E G H | 5881 | 9803 | OMIM:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:617244 | Fanconi anemia, complementation group R | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:614508 | Mirror movements 2 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD54B CL E G H | 25788 | 17228 | OMIM:114500 | Colorectal cancer | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:615916 | Cardiomyopathy, dilated, 1nn | . | | | 212 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RANBP2 CL E G H | 5903 | 9848 | OMIM:608033 | Encephalopathy, acute, infection-induced, susceptibility to, 3 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAPGEF2 CL E G H | 9693 | 16854 | OMIM:618075 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RASA1 CL E G H | 5921 | 9871 | OMIM:608354 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1 | | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:109800 | Bladder cancer | . | | | 365 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | . | | | 365 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:182280 | Small cell cancer of the lung | . | | | 365 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RBM12 CL E G H | 10137 | 9898 | OMIM:617629 | Schizophrenia 19 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RBM20 CL E G H | 282996 | 27424 | OMIM:613172 | Cardiomyopathy, dilated, 1dd | . | | | 363 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | . | | | 45 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:614751 | Neuronopathy, distal hereditary motor, type VB | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REEP2 CL E G H | 51308 | 17975 | OMIM:615625 | Spastic paraplegia 72, autosomal recessive | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RELA CL E G H | 5970 | 9955 | OMIM:618287 | MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RELN CL E G H | 5649 | 9957 | OMIM:616436 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7 | | | | 334 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REST CL E G H | 5978 | 9966 | OMIM:612431 | DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REST CL E G H | 5978 | 9966 | OMIM:617626 | Fibromatosis, gingival, 5 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | REST CL E G H | 5978 | 9966 | OMIM:616806 | WILMS TUMOR 6; WT6 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RET CL E G H | 5979 | 9967 | OMIM:142623 | Hirschsprung disease, susceptibility to, 1 | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RET CL E G H | 5979 | 9967 | OMIM:155240 | Thyroid carcinoma, familial medullary | . | | | 572 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RETN CL E G H | 56729 | 20389 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:268150 | Anemia, hemolytic, Rh-null, Regulator type | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | . | | | 80 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | . | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RIGI CL E G H | 23586 | 19102 | OMIM:616298 | Singleton-Merten syndrome 2 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:607017 | Deafness, autosomal dominant 21 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNASEL CL E G H | 6041 | 10050 | OMIM:601518 | Prostate cancer, hereditary, 1 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF213 CL E G H | 57674 | 14539 | OMIM:607151 | MOYAMOYA DISEASE 2; MYMY2 | | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RNF43 CL E G H | 54894 | 18505 | OMIM:617108 | Sessile serrated polyposis cancer syndrome | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ROBO2 CL E G H | 6092 | 10250 | OMIM:610878 | VESICOURETERAL REFLUX 2; VUR2 | | | | 120 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ROBO4 CL E G H | 54538 | 17985 | OMIM:618496 | Aortic valve disease 3 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | . | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:613587 | OCCULT MACULAR DYSTROPHY; OCMD | | | | 284 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL15 CL E G H | 6138 | 10306 | OMIM:615550 | Diamond-Blackfan anemia 12 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL18 CL E G H | 6141 | 10310 | OMIM:618310 | DIAMOND-BLACKFAN ANEMIA 18; DBA18 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL21 CL E G H | 6144 | 10313 | OMIM:615885 | Hypotrichosis 12 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL27 CL E G H | 6155 | 10328 | OMIM:617408 | Diamond-Blackfan anemia 16 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL35 CL E G H | 11224 | 10344 | OMIM:618312 | DIAMOND-BLACKFAN ANEMIA 19; DBA19 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS10 CL E G H | 6204 | 10383 | OMIM:613308 | Diamond-Blackfan anemia 9 | . | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS15A CL E G H | 6210 | 10389 | OMIM:618313 | DIAMOND-BLACKFAN ANEMIA 20; DBA20 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS17 CL E G H | 6218 | 10397 | OMIM:612527 | Diamond-Blackfan anemia 4 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS27 CL E G H | 6232 | 10416 | OMIM:617409 | DIAMOND-BLACKFAN ANEMIA 17; DBA17 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS29 CL E G H | 6235 | 10419 | OMIM:615909 | Diamond-Blackfan anemia 13 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPS7 CL E G H | 6201 | 10440 | OMIM:612563 | Diamond-Blackfan anemia 8 | | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RPSA CL E G H | 3921 | 6502 | OMIM:271400 | Asplenia, isolated congenital | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:616373 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 | | | | 77 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RTN4R CL E G H | 65078 | 18601 | OMIM:181500 | SCHIZOPHRENIA | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601626 | Leukemia, acute myeloid | . | | | 181 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | | | | 181 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | . | | | 1200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:600996 | Arrhythmogenic right ventricular dysplasia, familial, 2 | . | | | 1103 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:115000 | CARDIAC ARRHYTHMIA | | | | 1103 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 1103 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:614415 | Chilblain lupus 2 | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:127500 | Dyschromatosis universalis hereditaria | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619228 | DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCD5 CL E G H | 79966 | 21088 | OMIM:619086 | DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCGB3A2 CL E G H | 117156 | 18391 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN10A CL E G H | 6336 | 10582 | OMIM:615551 | EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 | | | | 146 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN11A CL E G H | 11280 | 10583 | OMIM:615552 | Episodic pain syndrome, familial, 3 | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN11A CL E G H | 11280 | 10583 | OMIM:615548 | Neuropathy, hereditary sensory and autonomic, type VII | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | | | | 1053 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | . | | | 1053 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:615377 | Atrial fibrillation, familial, 13 | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:612838 | BRUGADA SYNDROME 5; BRGDA5 | | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:604233 | Generalized epilepsy with febrile seizures plus, type 1 | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:613721 | Epileptic encephalopathy, early infantile, 11 | . | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:618924 | EPISODIC ATAXIA, TYPE 9; EA9 | | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:607745 | Seizures, benign familial infantile, 3 | . | | | 427 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN2B CL E G H | 6327 | 10589 | OMIM:615378 | Atrial fibrillation, familial, 14 | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | . | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN3B CL E G H | 55800 | 20665 | OMIM:613120 | Brugada syndrome 7 | . | | | 122 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | . | | | 263 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN4B CL E G H | 6330 | 10592 | OMIM:611819 | Long QT syndrome 10 | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | . | | | 1134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601144 | BRUGADA SYNDROME 1; BRGDA1 | | | | 1134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601154 | Cardiomyopathy, dilated, 1E | . | | | 1134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | . | | | 1134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:113900 | Progressive familial heart block, type IA | . | | | 1134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | . | | | 357 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | . | | | 357 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:618364 | MYOCLONUS, FAMILIAL, 2; MYOCL2 | | | | 357 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:617080 | Seizures, benign familial infantile, 5 | . | | | 357 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | . | | | 318 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:167400 | Paroxysmal extreme pain disorder | . | | | 318 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:613021 | Bronchiectasis with or without elevated sweat chloride 2 | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:211400 | Bronchiectasis with or without elevated sweat chloride 1 | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:613071 | Bronchiectasis with or without elevated sweat chloride 3 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:608908 | Myopia 6 | . | | | 40 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDC3 CL E G H | 9672 | 10660 | OMIM:601665 | OBESITY | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:614165 | PARAGANGLIOMAS 5; PGL5 | | | | 304 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 147 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEC63 CL E G H | 11231 | 21082 | OMIM:617004 | Polycystic liver disease 2 | . | | | 137 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEPTIN12 CL E G H | 124404 | 26348 | OMIM:614822 | Spermatogenic failure 10 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPINC1 CL E G H | 462 | 775 | OMIM:613118 | Antithrombin III deficiency | . | | | 88 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPIND1 CL E G H | 3053 | 4838 | OMIM:612356 | Heparin cofactor II deficiency | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPINE1 CL E G H | 5054 | 8583 | OMIM:613329 | Plasminogen activator inhibitor-1 deficiency | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:120790 | Complement component 4, partial deficiency of | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | . | | | 143 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:618832 | EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:606685 | CARDIOMYOPATHY, DILATED, 1L; CMD1L | | | | 223 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | . | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SH3GL1 CL E G H | 6455 | 10830 | OMIM:601626 | Leukemia, acute myeloid | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:613353 | Mononeuropathy of the median nerve, mild | . | | | 493 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:613950 | Schizophrenia 15 | . | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | . | | | 67 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIK1 CL E G H | 150094 | 11142 | OMIM:616341 | Deafness, autosomal dominant 67 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:608389 | Branchiootic syndrome 3 | | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:605192 | Deafness, autosomal dominant 23 | | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX5 CL E G H | 147912 | 10891 | OMIM:610896 | Branchiootorenal syndrome 2 | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619081 | DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619083 | DELPIRE-MCNEILL SYNDROME; DELMNES | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616685 | Epilepsy, idiopathic generalized, susceptibility to, 14 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:616095 | Monocarboxylate transporter 1 deficiency | . | | | 74 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC16A12 CL E G H | 387700 | 23094 | OMIM:612018 | CATARACT 47; CTRCT47 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC17A8 CL E G H | 246213 | 20151 | OMIM:605583 | DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 | | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC17A9 CL E G H | 63910 | 16192 | OMIM:616063 | Porokeratosis 8, disseminated superficial Actinic type | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:211980 | Lung cancer, susceptibility to | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC25A11 CL E G H | 8402 | 10981 | OMIM:618464 | PARAGANGLIOMAS 6; PGL6 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC26A8 CL E G H | 116369 | 14468 | OMIM:606766 | Spermatogenic failure 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | . | | | 255 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:614847 | Epilepsy, idiopathic generalized, susceptibility to, 12 | . | | | 255 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | . | | | 255 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC30A2 CL E G H | 7780 | 11013 | OMIM:608118 | Zinc deficiency, transient neonatal | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC30A8 CL E G H | 169026 | 20303 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:612539 | Spastic paraplegia 42, autosomal dominant | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:612286 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC36A2 CL E G H | 153201 | 18762 | OMIM:138500 | Glycinuria with or without oxalate urolithiasis | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC39A5 CL E G H | 283375 | 20502 | OMIM:615946 | Myopia 24, autosomal dominant | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC3A1 CL E G H | 6519 | 11025 | OMIM:220100 | CYSTINURIA | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC44A4 CL E G H | 80736 | 13941 | OMIM:617606 | Deafness, autosomal dominant 72 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:166900 | Ovalocytosis, hereditary hemolytic | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:613268 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 | | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC52A1 CL E G H | 55065 | 30225 | OMIM:615026 | Riboflavin deficiency | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | . | | | 41 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A1 CL E G H | 6529 | 11042 | OMIM:616421 | Myoclonic-Atonic epilepsy | . | | | 29 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A19 CL E G H | 340024 | 27960 | OMIM:138500 | Glycinuria with or without oxalate urolithiasis | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A20 CL E G H | 54716 | 30927 | OMIM:138500 | Glycinuria with or without oxalate urolithiasis | . | | | 96 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | . | | | 81 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLC7A9 CL E G H | 11136 | 11067 | OMIM:220100 | CYSTINURIA | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | . | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLFN14 CL E G H | 342618 | 32689 | OMIM:616913 | Bleeding disorder, platelet-type, 20 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 504 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:175050 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | . | | | 504 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:260350 | Pancreatic cancer | . | | | 504 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD6 CL E G H | 4091 | 6772 | OMIM:614823 | Aortic valve disease 2 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD6 CL E G H | 4091 | 6772 | OMIM:617439 | Craniosynostosis 7 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMAD9 CL E G H | 4093 | 6774 | OMIM:615342 | Pulmonary hypertension, primary, 2 | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:613325 | Rhabdoid tumor predisposition syndrome 2 | . | | | 617 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:136000 | Fingerprints, absence of | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:609322 | Rhabdoid tumor predisposition syndrome 1 | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:162091 | SCHWANNOMATOSIS | . | | | 87 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | . | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:127750 | Dementia, lewy body | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNCB CL E G H | 6620 | 11140 | OMIM:127750 | Dementia, lewy body | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNORA31 CL E G H | 677814 | 32621 | OMIM:619396 | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SNTA1 CL E G H | 6640 | 11167 | OMIM:612955 | Long QT syndrome 12 | | | | 118 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOHLH1 CL E G H | 402381 | 27845 | OMIM:618115 | Spermatogenic failure 32 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:135300 | Fibromatosis, gingival, 1 | . | | | 315 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX17 CL E G H | 64321 | 18122 | OMIM:613674 | Vesicoureteral reflux 3 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SP6 CL E G H | 80320 | 14530 | OMIM:620104 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | . | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:617948 | ELLIPTOCYTOSIS 3; EL3 | | | | 156 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | . | | | 149 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:167250 | Paget disease of bone 3 | . | | | 62 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRC CL E G H | 6714 | 11283 | OMIM:114500 | Colorectal cancer | . | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRC CL E G H | 6714 | 11283 | OMIM:616937 | Thrombocytopenia 6 | | | | 15 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | . | | | 138 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRP72 CL E G H | 6731 | 11303 | OMIM:614675 | Bone marrow failure syndrome 1 | . | | | 68 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | | | | 50 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SSBP1 CL E G H | 6742 | 11317 | OMIM:165510 | Optic atrophy with negative electroretinograms | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614892 | Immunodeficiency 31A | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 740 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:260350 | Pancreatic cancer | . | | | 740 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 86 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STX1B CL E G H | 112755 | 18539 | OMIM:616172 | Generalized epilepsy with febrile seizures plus, type 9 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYCP3 CL E G H | 50511 | 18130 | OMIM:270960 | Spermatogenic failure 4 | . | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYN2 CL E G H | 6854 | 11495 | OMIM:181500 | SCHIZOPHRENIA | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | . | | | 508 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYNGAP1 CL E G H | 8831 | 11497 | OMIM:612621 | Mental retardation, autosomal dominant 5 | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | . | | | 11 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:616044 | Deafness, autosomal dominant 65 | . | | | 271 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:617900 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:616944 | Mental retardation, autosomal dominant 41 | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBR1 CL E G H | 10716 | 11590 | OMIM:606053 | Intellectual developmental disorder with autism and speech delay | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX20 CL E G H | 57057 | 11598 | OMIM:611363 | ATRIAL SEPTAL DEFECT 4; ASD4 | | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | . | | | 55 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | | | | 19 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:607487 | Cardiomyopathy, familial hypertrophic, 25 | . | | | 78 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | . | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:613267 | Corneal dystrophy, fuchs endothelial, 3 | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCF7L2 CL E G H | 6934 | 11641 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TECTA CL E G H | 7007 | 11720 | OMIM:601543 | Deafness, autosomal dominant nonsyndromic sensorineural 12 | . | | | 222 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | . | | | 78 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TEK CL E G H | 7010 | 11724 | OMIM:600195 | Venous malformations, multiple cutaneous and mucosal | . | | | 78 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:601626 | Leukemia, acute myeloid | . | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:615134 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9 | | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 238 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | . | | | 104 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:617035 | Patent ductus arteriosus 2 | . | | | 104 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:107970 | Arrhythmogenic right ventricular dysplasia, familial, 1 | . | | | 85 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:602082 | Corneal dystrophy of bowman layer, type II | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:607541 | Corneal dystrophy, Avellino type | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:122200 | Corneal dystrophy, lattice type I | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608471 | Corneal dystrophy, lattice type IIIA | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121900 | Groenouw type I corneal dystrophy | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:132800 | Multiple self-healing squamous epithelioma | . | | | 239 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:614331 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 | | | | 253 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THBD CL E G H | 7056 | 11784 | OMIM:614486 | Thrombophilia due to thrombomodulin defect | | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THPO CL E G H | 7066 | 11795 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THRB CL E G H | 7068 | 11799 | OMIM:145650 | Thyroid hormone resistance, selective pituitary | . | | | 161 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THSD1 CL E G H | 55901 | 17754 | OMIM:618734 | ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TICAM1 CL E G H | 148022 | 18348 | OMIM:614850 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TIE1 CL E G H | 7075 | 11809 | OMIM:619401 | LYMPHATIC MALFORMATION 11; LMPHM11 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TIMELESS CL E G H | 8914 | 11813 | OMIM:620015 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | . | | | 95 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TLL1 CL E G H | 7092 | 11843 | OMIM:613087 | Atrial septal defect 6 | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TLR2 CL E G H | 7097 | 11848 | OMIM:114500 | Colorectal cancer | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TLR2 CL E G H | 7097 | 11848 | OMIM:246300 | Leprosy, susceptibility to | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TLR3 CL E G H | 7098 | 11849 | OMIM:613002 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TM4SF20 CL E G H | 79853 | 26230 | OMIM:615432 | SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMC1 CL E G H | 117531 | 16513 | OMIM:606705 | Deafness, autosomal dominant 36 | . | | | 109 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:604400 | Arrhythmogenic right ventricular dysplasia, familial, 5 | | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:619832 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3 | | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | . | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TMEM98 CL E G H | 26022 | 24529 | OMIM:615972 | Nanophthalmos 4 | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNC CL E G H | 3371 | 5318 | OMIM:615629 | Deafness, autosomal dominant 56 | . | | | 9 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNF CL E G H | 7124 | 11892 | OMIM:600807 | Asthma, susceptibility to | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:174810 | Familial expansile osteolysis | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | . | | | 72 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:611879 | CARDIOMYOPATHY, DILATED, 1Z; CMD1Z | | | | 73 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | . | | | 73 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613286 | Cardiomyopathy, dilated, 1ff | | | | 180 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | . | | | 180 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:115210 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 | | | | 180 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNI3K CL E G H | 51086 | 19661 | OMIM:616117 | Cardiac conduction disease with or without dilated cardiomyopathy | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | . | | | 248 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | . | | | 248 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:612422 | Cardiomyopathy, familial restrictive, 3 | . | | | 248 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNRC6A CL E G H | 27327 | 11969 | OMIM:618074 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:615963 | Vesicoureteral reflux 8 | . | | | 134 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TOPORS CL E G H | 10210 | 21653 | OMIM:609923 | Retinitis pigmentosa 31 | | | | 61 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:614740 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7 | | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114500 | Colorectal cancer | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260350 | Pancreatic cancer | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | . | | | 911 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | | | | 140 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPH2 CL E G H | 121278 | 20692 | OMIM:613003 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 | | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | . | | | 230 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:115196 | Cardiomyopathy, familial hypertrophic, 3 | . | | | 230 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRDN CL E G H | 10345 | 12261 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 145 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:610448 | Chilblain lupus 1 | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIM44 CL E G H | 54765 | 19016 | OMIM:617142 | Aniridia 3 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIM71 CL E G H | 131405 | 32669 | OMIM:618667 | HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPA1 CL E G H | 8989 | 497 | OMIM:615040 | Episodic pain syndrome, familial, 1 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPM4 CL E G H | 54795 | 17993 | OMIM:618531 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6 | | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPM4 CL E G H | 54795 | 17993 | OMIM:604559 | Progressive familial heart block, type IB | . | | | 124 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPM7 CL E G H | 54822 | 17994 | OMIM:105500 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | . | | | 151 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:616400 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | . | | | 151 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:617383 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 | | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618778 | DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | | | | 97 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:609152 | Hyperthyroidism, nonautoimmune | . | | | 97 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSHZ1 CL E G H | 10194 | 10669 | OMIM:607842 | Aural atresia, congenital | | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTBK2 CL E G H | 146057 | 19141 | OMIM:604432 | Spinocerebellar ataxia 11 | . | | | 57 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | . | | | 132 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:604145 | CARDIOMYOPATHY, DILATED, 1G; CMD1G | | | | 7128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:613765 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9 | | | | 7128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TTR CL E G H | 7276 | 12405 | OMIM:115430 | Carpal tunnel syndrome | . | | | 107 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBA3D CL E G H | 113457 | 24071 | OMIM:617928 | Keratoconus 9 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBA4A CL E G H | 7277 | 12407 | OMIM:616208 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBA8 CL E G H | 51807 | 12410 | OMIM:619840 | | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB1 CL E G H | 81027 | 16257 | OMIM:613112 | Macrothrombocytopenia, autosomal dominant, tubb1-related | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:614039 | Cortical dysplasia, complex, with other brain malformations 1 | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBB8 CL E G H | 347688 | 20773 | OMIM:616780 | Oocyte maturation defect 2 | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TUBG1 CL E G H | 7283 | 12417 | OMIM:615412 | Cortical dysplasia, complex, with other brain malformations 4 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:123100 | Craniosynostosis 1 | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UBIAD1 CL E G H | 29914 | 30791 | OMIM:121800 | Corneal dystrophy, crystalline, of schnyder | . | | | 69 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UCP3 CL E G H | 7352 | 12519 | OMIM:601665 | OBESITY | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:616279 | Cataract 43 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:108600 | Spastic ataxia 1, autosomal dominant | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VAMP2 CL E G H | 6844 | 12643 | OMIM:618760 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | . | | | 111 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:182980 | Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included | . | | | 116 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCL CL E G H | 7414 | 12665 | OMIM:611407 | CARDIOMYOPATHY, DILATED, 1W; CMD1W | | | | 248 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | . | | | 248 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VEGFC CL E G H | 7424 | 12682 | OMIM:615907 | Lymphedema, hereditary, ID | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VIM CL E G H | 7431 | 12692 | OMIM:116300 | Cataract 30, multiple types | . | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VKORC1 CL E G H | 79001 | 23663 | OMIM:122700 | Coumarin resistance | . | | | 25 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:148300 | Keratoconus 1 | . | | | 47 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | . | | | 533 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WDFY3 CL E G H | 23001 | 20751 | OMIM:617520 | Microcephaly 18, primary, autosomal dominant | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | . | | | 10 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:116400 | Cataract, nuclear total | . | | | 389 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:600965 | Deafness, autosomal dominant 6 | . | | | 389 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 389 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | . | | | 389 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | . | | | 199 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | . | | | 71 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:617073 | Tooth agenesis, selective, 8 | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:158330 | Mullerian aplasia and hyperandrogenism | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194070 | Wilms tumor 1 | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | . | | | 177 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | YAP1 CL E G H | 10413 | 16262 | OMIM:120433 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | . | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | YWHAG CL E G H | 7532 | 12852 | OMIM:617665 | Epileptic encephalopathy, early infantile, 56 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | . | | | 7 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZCCHC8 CL E G H | 55596 | 25265 | OMIM:618674 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5 | | | | 1 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZEB1 CL E G H | 6935 | 11642 | OMIM:609141 | Corneal dystrophy, posterior polymorphous, 3 | | | | 8 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFHX2 CL E G H | 85446 | 20152 | OMIM:147430 | Marsili syndrome | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFHX3 CL E G H | 463 | 777 | OMIM:176807 | Prostate cancer | . | | | 6 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFHX4 CL E G H | 79776 | 30939 | OMIM:178300 | Ptosis, hereditary congenital 1 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | 30 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:616067 | 46,xy sex reversal 9 | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | . | | | 31 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | . | | | 52 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | . | | | 34 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | . | | | 24 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | . | | | 49 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF644 CL E G H | 84146 | 29222 | OMIM:614167 | Myopia 21, autosomal dominant | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF687 CL E G H | 57592 | 29277 | OMIM:616833 | Paget disease of bone 6 | | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZNF750 CL E G H | 79755 | 25843 | OMIM:610227 | Seborrhea-Like dermatitis with psoriasiform elements | . | | | 2 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZP3 CL E G H | 7784 | 13189 | OMIM:617712 | Oocyte maturation defect 3 | . | | | | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |