Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CL E G H | 105259599 | 130650 | Beckwith-Wiedemann syndrome | 130650 | C0004903 | OMIM | 1 | | 28 | 0 | |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A2M CL E G H | 2 | 614036 | Alpha-2-macroglobulin deficiency | 614036 | C3279661 | OMIM | 1 | | 56 | 7 | 103950 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A4GALT CL E G H | 53947 | 111400 | p phenotype | 111400 | C0599990 | OMIM | 1 | | 77 | 18149 | 607922 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AAGAB CL E G H | 79719 | 148600 | Keratosis palmoplantaris papulosa | 148600 | C1835662 | OMIM | 1 | | 91 | 25662 | 614888 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA1 CL E G H | 19 | 604091 | Familial hypoalphalipoproteinemia | 604091 | C1704429 | OMIM | 1 | | 993 | 29 | 600046 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2760 | 34 | 601691 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA5 CL E G H | 23461 | 135400 | Gingival fibromatosis with hypertrichosis | 135400 | C1851120 | OMIM | 1 | | 51 | 35 | 612503 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 453 | 45 | 171060 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 614972 | Cholestasis, intrahepatic, of pregnancy 3 | 614972 | C3554241 | OMIM | 1 | | 453 | 45 | 171060 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 615402 | Dyschromatosis universalis hereditaria 3 | 615402 | C3809394 | OMIM | 1 | | 101 | 47 | 605452 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 614497 | Microphthalmia, isolated, with coloboma 7 | 614497 | C3281027 | OMIM | 1 | | 101 | 47 | 605452 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | 609153 | C1836705 | OMIM | 1 | | 101 | 47 | 605452 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1307 | 57 | 603234 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 125853 | Diabetes mellitus type 2 | 125853 | C0011860 | OMIM | 1 | | 1569 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1569 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1569 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 256450 | Persistent hyperinsulinemic hypoglycemia of infancy | 256450 | C2931832 | OMIM | 1 | | 1569 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 610374 | Transient neonatal diabetes mellitus 2 | 610374 | C1835887 | OMIM | 1 | | 1569 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 614050 | Atrial fibrillation, familial, 12 | 614050 | C3279695 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 608569 | Dilated cardiomyopathy 1O | 608569 | C1837839 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 165800 | Osteochondritis dissecans | 165800 | C0029421 | OMIM | 1 | | 542 | 319 | 155760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 608361 | Spondyloepiphyseal dysplasia, kimberley type | 608361 | C1842149 | OMIM | 1 | | 542 | 319 | 155760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 834 | 25070 | 609377 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 611788 | Aortic aneurysm, familial thoracic 6 | 611788 | C2673186 | OMIM | 1 | | 428 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 614042 | Moyamoya disease 5 | 614042 | C3279690 | OMIM | 1 | | 428 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 613834 | Multisystemic smooth muscle dysfunction syndrome | 613834 | C3151201 | OMIM | 1 | | 428 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 406 | 132 | 102630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 607371 | Juvenile-onset dystonia | 607371 | C1846331 | OMIM | 1 | | 406 | 132 | 102630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 612794 | Atrial septal defect 5 | 612794 | C2748552 | OMIM | 1 | | 607 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 613424 | Dilated cardiomyopathy 1R | 613424 | C3150681 | OMIM | 1 | | 607 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 612098 | Familial hypertrophic cardiomyopathy 11 | 612098 | C2677506 | OMIM | 1 | | 607 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG1 CL E G H | 71 | 604717 | Deafness, autosomal dominant 20 | 604717 | C1858172 | OMIM | 1 | | 412 | 144 | 102560 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 75 | 145 | 102545 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN1 CL E G H | 87 | 615193 | Platelet-type bleeding disorder 15 | 615193 | C3554663 | OMIM | 1 | | 157 | 163 | 102575 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 612158 | Dilated cardiomyopathy 1AA | 612158 | C2677338 | OMIM | 1 | | 1157 | 164 | 102573 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN4 CL E G H | 81 | 603278 | Focal segmental glomerulosclerosis 1 | 603278 | C0333497 | OMIM | 1 | | 235 | 166 | 604638 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR1 CL E G H | 90 | 135100 | Progressive myositis ossificans | 135100 | C0016037 | OMIM | 1 | | 169 | 171 | 102576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 323 | 174 | 602730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 818 | 175 | 601284 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADAM10 CL E G H | 102 | 615537 | Reticulate acropigmentation of Kitamura | 615537 | C0406811 | OMIM | 1 | | 61 | 188 | 602192 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADAR CL E G H | 103 | 127400 | Symmetrical dyschromatosis of extremities | 127400 | C0406775 | OMIM | 1 | | 818 | 225 | 146920 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 480 | 236 | 600293 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRE2 CL E G H | 30817 | 125630 | Vibratory urticaria | 125630 | C1852146 | OMIM | 1 | | 84 | 3337 | 606100 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRV1 CL E G H | 84059 | 604352 | Febrile seizures, familial, 4 | 604352 | C1858493 | OMIM | 1 | | 3566 | 17416 | 602851 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 356 | 15766 | 611386 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 80 | 282 | 104260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 215 | 17869 | 604417 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AGBL1 CL E G H | 123624 | 615523 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 | C3809798 | OMIM | 1 | | 51 | 26504 | 615496 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 455 | 25230 | 615790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 102200 | Somatotroph adenoma | 102200 | C0346302 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 822 | 360 | 607358 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKAP9 CL E G H | 10142 | 611820 | Long QT syndrome 11 | 611820 | C2678483 | OMIM | 1 | | 1949 | 379 | 604001 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT2 CL E G H | 208 | 125853 | Diabetes mellitus type 2 | 125853 | C0011860 | OMIM | 1 | | 115 | 392 | 164731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT2 CL E G H | 208 | 240900 | Hypoglycemia, neonatal, simulating foetopathia diabetica | 240900 | C1855860 | OMIM | 1 | | 115 | 392 | 164731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 282 | 393 | 611223 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH2 CL E G H | 217 | 610251 | Acute alcohol sensitivity | 610251 | C2674838 | OMIM | 1 | | 39 | 404 | 100650 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALPL CL E G H | 249 | 146300 | Adult hypophosphatasia | 146300 | C0268413 | OMIM | 1 | | 787 | 438 | 171760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 251 | 450 | 605420 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 97 | 483 | 105850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPTL3 CL E G H | 27329 | 605019 | Hypobetalipoproteinemia, familial, 2 | 605019 | C1857970 | OMIM | 1 | | 70 | 491 | 604774 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPTL4 CL E G H | 51129 | 615881 | Plasma triglyceride level quantitative trait locus | 615881 | C4014553 | OMIM | 1 | | 17 | 16039 | 605910 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK1 CL E G H | 286 | 182900 | Spherocytosis type 1 | 182900 | C2674218 | OMIM | 1 | | 642 | 492 | 612641 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK2 CL E G H | 287 | 600919 | Cardiac arrhythmia, ankyrin B-related | 600919 | C1970119 | OMIM | 1 | | 2407 | 493 | 106410 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1515 | 21316 | 611192 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD26 CL E G H | 22852 | 188000 | Thrombocytopenia 2 | 188000 | C1861185 | OMIM | 1 | | 438 | 29186 | 610855 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANLN CL E G H | 54443 | 616032 | Focal segmental glomerulosclerosis 8 | 616032 | C4014993 | OMIM | 1 | | 269 | 14082 | 616027 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO3 CL E G H | 63982 | 615034 | Dystonia 24 | 615034 | C3554374 | OMIM | 1 | | 352 | 14004 | 610110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO5 CL E G H | 203859 | 166260 | Gnathodiaphyseal dysplasia | 166260 | C1833736 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP2S1 CL E G H | 1175 | 600740 | Hypocalciuric hypercalcemia, familial, type III | 600740 | C1833372 | OMIM | 1 | | 84 | 565 | 602242 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP4E1 CL E G H | 23431 | 184450 | Stuttering, familial persistent 1 | 184450 | C3489627 | OMIM | 1 | | 377 | 573 | 607244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 11490 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 135290 | Desmoid disease, hereditary | 135290 | C1851124 | OMIM | 1 | | 11490 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 175100 | Familial adenomatous polyposis 1 | 175100 | C2713442 | OMIM | 1 | | 11490 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 11490 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APCDD1 CL E G H | 147495 | 605389 | Hypotrichosis simplex | 605389 | C1854310 | OMIM | 1 | | 124 | 15718 | 607479 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 604091 | Familial hypoalphalipoproteinemia | 604091 | C1704429 | OMIM | 1 | | 192 | 600 | 107680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 105200 | Familial visceral amyloidosis, Ostertag type | 105200 | C0268389 | OMIM | 1 | | 192 | 600 | 107680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 142 | 17288 | 606368 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOB CL E G H | 338 | 144010 | Hypercholesterolemia, autosomal dominant, type B | 144010 | C1704417 | OMIM | 1 | | 3071 | 603 | 107730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 136 | 613 | 107741 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 136 | 613 | 107741 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 404 | 620 | 104760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 404 | 620 | 104760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 285 | 634 | 107777 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP5 CL E G H | 362 | 600231 | Diffuse palmoplantar keratoderma, Bothnian type | 600231 | C1838359 | OMIM | 1 | | 53 | 638 | 600442 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 123 | 649 | 600820 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP26 CL E G H | 23092 | 607785 | Juvenile myelomonocytic leukemia | 607785 | C0349639 | OMIM | 1 | | 40 | 17073 | 605370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 243 | 29216 | 610911 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGEF10 CL E G H | 9639 | 608236 | Slowed nerve conduction velocity, autosomal dominant | 608236 | C1842357 | OMIM | 1 | | 511 | 14103 | 608136 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 545 | 11110 | 603024 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASB10 CL E G H | 136371 | 603383 | Glaucoma 1, open angle, F | 603383 | C1863926 | OMIM | 1 | | 166 | 17185 | 615054 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASCL1 CL E G H | 429 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 32 | 738 | 100790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 242 | 19088 | 607999 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 292 | 25567 | 612316 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL3 CL E G H | 25923 | 615632 | Hereditary sensory neuropathy type IF | 615632 | C3810194 | OMIM | 1 | | 340 | 24526 | 609369 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 1 | | 113 | 3033 | 607462 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 918 | 800 | 182340 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 918 | 800 | 182340 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 101900 | Acrokeratosis verruciformis of Hopf | 101900 | C0265971 | OMIM | 1 | | 189 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 124200 | Keratosis follicularis | 124200 | C0022595 | OMIM | 1 | | 189 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2C1 CL E G H | 27032 | 169600 | Familial benign pemphigus | 169600 | C0085106 | OMIM | 1 | | 172 | 13211 | 604384 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 129 | 854 | 606939 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP6V1B2 CL E G H | 526 | 616455 | Zimmermann-Laband syndrome 2 | 616455 | C4225321 | OMIM | 1 | | 129 | 854 | 606939 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 509 | 3706 | 602397 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATR CL E G H | 545 | 614564 | Cutaneous telangiectasia and cancer syndrome, familial | 614564 | C3281203 | OMIM | 1 | | 2273 | 882 | 601215 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 108 | 10549 | 611150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 79 | 10561 | 603680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 78 | 894 | 192340 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN1 CL E G H | 8312 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 91 | 903 | 603816 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 2777 | 904 | 604025 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 608615 | Oligodontia-colorectal cancer syndrome | 608615 | C1837750 | OMIM | 1 | | 2777 | 904 | 604025 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXL CL E G H | 558 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 105 | 905 | 109135 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | B2M CL E G H | 567 | 105200 | Familial visceral amyloidosis, Ostertag type | 105200 | C0268389 | OMIM | 1 | | 45 | 914 | 109700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 613881 | Dilated cardiomyopathy 1HH | 613881 | C3151293 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAP1 CL E G H | 8314 | 614327 | Tumor susceptibility linked to germline BAP1 mutations | 614327 | C3280492 | OMIM | 1 | | 2132 | 950 | 603089 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 154 | 13221 | 606557 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 330 | 13222 | 606558 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCO1 CL E G H | 53630 | 115300 | Hypercarotenemia and vitamin a deficiency, autosomal dominant | 115300 | C2676023 | OMIM | 1 | | 106 | 13815 | 605748 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 613194 | Retinitis pigmentosa 50 | 613194 | C2750788 | OMIM | 1 | | 668 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 668 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 193220 | Vitreoretinochoroidopathy | 193220 | C1860406 | OMIM | 1 | | 668 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP1 CL E G H | 631 | 611391 | Cataract 33, multiple types | 611391 | C3808107 | OMIM | 1 | | 129 | 1040 | 603307 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP2 CL E G H | 8419 | 611597 | Cataract 12, multiple types | 611597 | C3808115 | OMIM | 1 | | 111 | 1041 | 603212 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 365 | 1057 | 191305 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 30 | 1062 | 109750 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 195 | 1068 | 300247 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP2 CL E G H | 650 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 128 | 1069 | 112261 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 1 | | 143 | 1071 | 112262 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 610069 | Hereditary mixed polyposis syndrome 2 | 610069 | C1864730 | OMIM | 1 | | 1912 | 1076 | 601299 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 174900 | Juvenile polyposis syndrome | 174900 | C0345893 | OMIM | 1 | | 1912 | 1076 | 601299 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 616849 | Brachydactyly, type a1, d | 616849 | C4225183 | OMIM | 1 | | 295 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 295 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 947 | 1078 | 600799 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 265450 | Pulmonary veno-occlusive disease | 265450 | C0034091 | OMIM | 1 | | 947 | 1078 | 600799 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMS1 CL E G H | 9790 | 107600 | Aplasia cutis congenita | 107600 | C0282160 | OMIM | 1 | | 57 | 23505 | 611448 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 211980 | Lung cancer | 211980 | C0684249 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA1 CL E G H | 672 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | | 13451 | 1100 | 113705 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | | 16438 | 1101 | 600185 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 209 | 14255 | 602410 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BUB1B CL E G H | 701 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 1250 | 1149 | 602860 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 605 | 14344 | 608752 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1R CL E G H | 715 | 130080 | Ehlers-Danlos syndrome, type 8 | 130080 | C0268347 | OMIM | 1 | | 115 | 1246 | 613785 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1S CL E G H | 716 | 617174 | Ehlers-Danlos syndrome, periodontal type, 2 | 617174 | C4310681 | OMIM | 1 | | 254 | 1247 | 120580 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 57 | 1371 | 603263 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CA4 CL E G H | 762 | 600852 | Retinitis pigmentosa 17 | 600852 | C1833245 | OMIM | 1 | | 225 | 1375 | 114760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 141500 | Familial hemiplegic migraine type 1 | 141500 | C1832884 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 611875 | Brugada syndrome 3 | 611875 | C2678478 | OMIM | 1 | | 2235 | 1390 | 114205 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 2235 | 1390 | 114205 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1D CL E G H | 776 | 615474 | Primary aldosteronism, seizures, and neurologic abnormalities | 615474 | C3809609 | OMIM | 1 | | 1031 | 1391 | 114206 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1H CL E G H | 8912 | 617027 | Hyperaldosteronism, familial, type IV | 617027 | C4310756 | OMIM | 1 | | 2526 | 1395 | 607904 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1S CL E G H | 779 | 170400 | Hypokalemic periodic paralysis 1 | 170400 | C3714580 | OMIM | 1 | | 1504 | 1397 | 114208 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB2 CL E G H | 783 | 611876 | Brugada syndrome 4 | 611876 | C2678477 | OMIM | 1 | | 714 | 1402 | 600003 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 312 | 1404 | 601949 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNG2 CL E G H | 10369 | 614256 | Mental retardation, autosomal dominant 10 | 614256 | C3280284 | OMIM | 1 | | 48 | 1406 | 602911 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM1 CL E G H | 801 | 616247 | Long QT syndrome 14 | 616247 | C4015671 | OMIM | 1 | | 121 | 1442 | 114180 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM1 CL E G H | 801 | 614916 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | 614916 | C3554047 | OMIM | 1 | | 121 | 1442 | 114180 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM2 CL E G H | 805 | 616249 | Long QT syndrome 15 | 616249 | C4015695 | OMIM | 1 | | 134 | 1445 | 114182 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 187950 | Essential thrombocythemia | 187950 | C0040028 | OMIM | 1 | | 44 | 1455 | 109091 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 254450 | Myelofibrosis | 254450 | C0001815 | OMIM | 1 | | 44 | 1455 | 109091 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 77 | 1460 | 114078 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 371 | 1461 | 607707 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 334 | 18806 | 611501 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 406 | 1482 | 602537 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD11 CL E G H | 84433 | 616452 | B-cell expansion with NFKB and T-cell anergy | 616452 | CN231446 | OMIM | 1 | | 660 | 16393 | 607210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 173200 | Pityriasis rubra pilaris | 173200 | C0032027 | OMIM | 1 | | 796 | 16446 | 607211 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 602723 | Psoriasis susceptibility 2 | 602723 | C1864497 | OMIM | 1 | | 796 | 16446 | 607211 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP10 CL E G H | 843 | 603909 | Autoimmune lymphoproliferative syndrome, type 2A | 603909 | C1858968 | OMIM | 1 | | 385 | 1500 | 601762 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP8 CL E G H | 841 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 257 | 1509 | 601763 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASQ1 CL E G H | 844 | 616231 | Myopathy, vacuolar, with casq1 aggregates | 616231 | C4015624 | OMIM | 1 | | 166 | 1512 | 114250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASQ2 CL E G H | 845 | 604772 | Catecholaminergic polymorphic ventricular tachycardia type 1 | 604772 | C4053736 | OMIM | 1 | | 516 | 1513 | 114251 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 601198 | Hypocalcemia, autosomal dominant 1 | 601198 | C0342345 | OMIM | 1 | | 2039 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 145980 | Hypocalciuric hypercalcemia, familial, type 1 | 145980 | C0342637 | OMIM | 1 | | 2039 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2039 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV1 CL E G H | 857 | 615343 | Primary pulmonary hypertension 3 | 615343 | C3809192 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 614321 | Distal myopathy, Tateyama type | 614321 | C3280443 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 123320 | Elevated serum creatine phosphokinase | 123320 | C0241005 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 192600 | Familial hypertrophic cardiomyopathy 1 | 192600 | C3495498 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 611818 | Long QT syndrome 9 | 611818 | C2678485 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBFB CL E G H | 865 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 47 | 1539 | 121360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 607785 | Juvenile myelomonocytic leukemia | 607785 | C0349639 | OMIM | 1 | | 1056 | 1541 | 165360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 613563 | C3150803 | OMIM | 1 | | 1056 | 1541 | 165360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBX2 CL E G H | 84733 | 613080 | 46,XY sex reversal, type 5 | 613080 | C2751317 | OMIM | 1 | | 62 | 1552 | 602770 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC141 CL E G H | 285025 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 179 | 26821 | 616031 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC50 CL E G H | 152137 | 607453 | Deafness, autosomal dominant 44 | 607453 | C1843895 | OMIM | 1 | | 213 | 18111 | 611051 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCM2 CL E G H | 83605 | 603284 | Cerebral cavernous malformations 2 | 603284 | C1864041 | OMIM | 1 | | 249 | 21708 | 607929 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 120 | 1583 | 123833 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD164 CL E G H | 8763 | 616969 | Deafness, autosomal dominant 66 | 616969 | C4283893 | OMIM | 1 | | 85 | 1632 | 603356 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD19 CL E G H | 930 | 240500 | Common variable immunodeficiency 2 | 240500 | C3150354 | OMIM | 1 | | 325 | 1633 | 107265 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 202 | 1663 | 173510 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145000 | Hyperparathyroidism 1 | 145000 | C1840402 | OMIM | 1 | | 1148 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145001 | Hyperparathyroidism 2 | 145001 | C1704981 | OMIM | 1 | | 1148 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 608266 | Parathyroid carcinoma | 608266 | C0687150 | OMIM | 1 | | 1148 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3555 | 1748 | 192090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 137215 | Hereditary diffuse gastric cancer | 137215 | C1708349 | OMIM | 1 | | 3555 | 1748 | 192090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 3555 | 1748 | 192090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH15 CL E G H | 1013 | 612580 | Mental retardation, autosomal dominant 3 | 612580 | C2675488 | OMIM | 1 | | 210 | 1754 | 114019 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 252 | 1733 | 603309 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1B CL E G H | 1027 | 610755 | Multiple endocrine neoplasia, type 4 | 610755 | C1970712 | OMIM | 1 | | 749 | 1785 | 600778 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 130650 | Beckwith-Wiedemann syndrome | 130650 | C0004903 | OMIM | 1 | | 912 | 1786 | 600856 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | 614732 | C1846009 | OMIM | 1 | | 912 | 1786 | 600856 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 155755 | Melanoma astrocytoma syndrome | 155755 | C1835042 | OMIM | 1 | | 1217 | 1787 | 600160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1217 | 1787 | 600160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 545 | 17104 | 608707 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDSN CL E G H | 1041 | 146520 | Hypotrichosis 2 | 146520 | C1840299 | OMIM | 1 | | 86 | 1802 | 602593 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEACAM16 CL E G H | 388551 | 614614 | Deafness, autosomal dominant 4b | 614614 | C3281297 | OMIM | 1 | | 165 | 31948 | 614591 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEBPA CL E G H | 1050 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 742 | 1833 | 116897 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEL CL E G H | 1056 | 609812 | Maturity-onset diabetes of the young, type 8 | 609812 | C1853297 | OMIM | 1 | | 175 | 1848 | 114840 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFC1 CL E G H | 55997 | 605376 | Heterotaxy, visceral, 2, autosomal | 605376 | C1415817 | OMIM | 1 | | 37 | 18292 | 605194 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 126700 | Basal laminar drusen | 126700 | C0730295 | OMIM | 1 | | 487 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 609814 | Factor H deficiency | 609814 | C0398777 | OMIM | 1 | | 487 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR5 CL E G H | 81494 | 614809 | CFHR5 deficiency | 614809 | C3553720 | OMIM | 1 | | 168 | 24668 | 608593 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 216 | 20311 | 616327 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 72 | 21645 | 616244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 296 | 1919 | 603277 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 612370 | Kallmann syndrome 5 | 612370 | C2675302 | OMIM | 1 | | 2318 | 20626 | 608892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 3267 | 16627 | 604373 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP4B CL E G H | 128866 | 605387 | Cataract, posterior polar, 3 | 605387 | C1854311 | OMIM | 1 | | 40 | 16171 | 610897 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHN1 CL E G H | 1123 | 604356 | Duane syndrome type 2 | 604356 | C0751083 | OMIM | 1 | | 121 | 1943 | 118423 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA2 CL E G H | 1135 | 610353 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 | C1835905 | OMIM | 1 | | 639 | 1956 | 118502 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA4 CL E G H | 1137 | 600513 | Epilepsy, nocturnal frontal lobe, type 1 | 600513 | C1838049 | OMIM | 1 | | 905 | 1958 | 118504 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA7 CL E G H | 1139 | 612001 | 15q13.3 microdeletion syndrome | 612001 | C2677613 | OMIM | 1 | | 347 | 1960 | 118511 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNB2 CL E G H | 1141 | 605375 | Epilepsy, nocturnal frontal lobe, type 3 | 605375 | C1854335 | OMIM | 1 | | 433 | 1962 | 118507 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNE CL E G H | 1145 | 605809 | Myasthenic syndrome, congenital, 4a, slow-channel | 605809 | C1853949 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 258 | 14214 | 612082 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1058 | 7067 | 600005 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CITED2 CL E G H | 10370 | 614433 | Atrial septal defect 8 | 614433 | C3280790 | OMIM | 1 | | 45 | 1987 | 602937 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CITED2 CL E G H | 10370 | 614431 | Ventricular septal defect 2 | 614431 | C3280783 | OMIM | 1 | | 45 | 1987 | 602937 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 1 | | 870 | 2019 | 118425 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPX CL E G H | 10845 | 618015 | PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | 618015 | CN248523 | OMIM | 1 | | 45 | 2088 | 615611 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 18 | 13164 | 116955 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 613882 | Hypomagnesemia 6, renal | 613882 | C3151295 | OMIM | 1 | | 218 | 103 | 607803 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 218 | 103 | 607803 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COCH CL E G H | 1690 | 601369 | Deafness, autosomal dominant 9 | 601369 | C1832425 | OMIM | 1 | | 203 | 2180 | 603196 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL10A1 CL E G H | 1300 | 156500 | Metaphyseal chondrodysplasia, Schmid type | 156500 | C0265289 | OMIM | 1 | | 295 | 2185 | 120110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1671 | 2186 | 120280 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 604841 | Stickler syndrome, type 2 | 604841 | C1858084 | OMIM | 1 | | 1671 | 2186 | 120280 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 601868 | Deafness, autosomal dominant 13 | 601868 | C1866095 | OMIM | 1 | | 1240 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 614524 | Fibrochondrogenesis 2 | 614524 | C3281128 | OMIM | 1 | | 1240 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 184840 | Stickler syndrome, type 3 | 184840 | C1861481 | OMIM | 1 | | 1240 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 419 | 2194 | 113811 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 114000 | Infantile cortical hyperostosis | 114000 | C0020497 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 166200 | Osteogenesis imperfecta type I | 166200 | C0023931 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 166210 | Osteogenesis imperfecta, recessive perinatal lethal | 166210 | C0268360 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 166210 | Osteogenesis imperfecta, recessive perinatal lethal | 166210 | C0268360 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 200610 | Achondrogenesis, type II | 200610 | C0220685 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 608805 | Avascular necrosis of the head of femur | 608805 | C0410480 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 150600 | Coxa plana | 150600 | C0023234 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 609162 | Czech dysplasia metatarsal type | 609162 | C1836683 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 132450 | C1851536 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 156550 | Kniest dysplasia | 156550 | C0265279 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 604864 | Osteoarthritis with mild chondrodysplasia | 604864 | C1858079 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 151210 | Platyspondylic lethal skeletal dysplasia Torrance type | 151210 | C1835437 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 616583 | Spondyloepiphyseal dysplasia, stanescu type | 616583 | C4225273 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 184250 | Spondylometaphyseal dysplasia | 184250 | C0700635 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 108300 | Stickler syndrome type 1 | 108300 | C2020284 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 609508 | Stickler syndrome, type I, nonsyndromic ocular | 609508 | C1836080 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL3A1 CL E G H | 1281 | 130050 | Ehlers-Danlos syndrome, type 4 | 130050 | C0268338 | OMIM | 1 | | 2274 | 2201 | 120180 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 611773 | C2673195 | OMIM | 1 | | 1258 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 607595 | Brain small vessel disease with hemorrhage | 607595 | C1843512 | OMIM | 1 | | 1258 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1258 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 1258 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 992 | 2203 | 120090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 104200 | Alport syndrome, autosomal dominant | 104200 | C1567743 | OMIM | 1 | | 1667 | 2204 | 120070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 141200 | Benign familial hematuria | 141200 | C0241908 | OMIM | 1 | | 1667 | 2204 | 120070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A4 CL E G H | 1286 | 141200 | Benign familial hematuria | 141200 | C0241908 | OMIM | 1 | | 1863 | 2206 | 120131 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2531 | 2209 | 120215 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 132000 | Dominant dystrophic epidermolysis bullosa with absence of skin | 132000 | C0268371 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 604129 | Epidermolysis bullosa pruriginosa | 604129 | C1275114 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 131750 | Generalized dominant dystrophic epidermolysis bullosa | 131750 | C0432322 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 607523 | Nail disorder, nonsyndromic congenital, 8 | 607523 | C1843761 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 131850 | Pretibial epidermolysis bullosa | 131850 | C0432321 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 131705 | Transient bullous dermolysis of the newborn | 131705 | C1851573 | OMIM | 1 | | 2616 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL8A2 CL E G H | 1296 | 136800 | Corneal dystrophy, Fuchs endothelial 1 | 136800 | C1850959 | OMIM | 1 | | 51 | 2216 | 120252 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL8A2 CL E G H | 1296 | 609140 | Corneal dystrophy, posterior polymorphous, 2 | 609140 | C1852795 | OMIM | 1 | | 51 | 2216 | 120252 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A1 CL E G H | 1297 | 614135 | Multiple epiphyseal dysplasia 6 | 614135 | C2675767 | OMIM | 1 | | 892 | 2217 | 120210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A2 CL E G H | 1298 | 600204 | Multiple epiphyseal dysplasia 2 | 600204 | C1838429 | OMIM | 1 | | 604 | 2218 | 120260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A3 CL E G H | 1299 | 600969 | Multiple epiphyseal dysplasia 3 | 600969 | C1832998 | OMIM | 1 | | 907 | 2219 | 120270 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 132400 | Multiple epiphyseal dysplasia 1 | 132400 | C1838280 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CORIN CL E G H | 10699 | 614595 | Preeclampsia/eclampsia 5 | 614595 | C3281288 | OMIM | 1 | | 49 | 19012 | 605236 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPA6 CL E G H | 57094 | 614417 | Epilepsy, familial temporal lobe, 5 | 614417 | C3280730 | OMIM | 1 | | 219 | 17245 | 609562 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPOX CL E G H | 1371 | 121300 | Hereditary coproporphyria | 121300 | C0162531 | OMIM | 1 | | 207 | 2321 | 612732 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CPT2 CL E G H | 1376 | 255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | 255110 | C1833508 | OMIM | 1 | | 720 | 2330 | 600650 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CR2 CL E G H | 1380 | 240500 | Common variable immunodeficiency 2 | 240500 | C3150354 | OMIM | 1 | | 516 | 2336 | 120650 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1274 | 2343 | 604210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRELD1 CL E G H | 78987 | 606217 | Atrioventricular septal defect 2 | 606217 | C1853508 | OMIM | 1 | | 158 | 14630 | 607170 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRX CL E G H | 1406 | 120970 | Cone-rod dystrophy 2 | 120970 | CN074280 | OMIM | 1 | | 442 | 2383 | 602225 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAA CL E G H | 1409 | 604219 | Cataract, autosomal dominant | 604219 | C1858679 | OMIM | 1 | | 152 | 2388 | 123580 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 613763 | Cataract 16, multiple types | 613763 | C3151065 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYAB CL E G H | 1410 | 615184 | Dilated cardiomyopathy 1II | 615184 | C3554649 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA1 CL E G H | 1411 | 600881 | Cataract, congenital zonular, with sutural opacities | 600881 | C1833229 | OMIM | 1 | | 67 | 2394 | 123610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA2 CL E G H | 1412 | 115900 | Cataract, floriform | 115900 | C1861830 | OMIM | 1 | | 34 | 2395 | 600836 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBA4 CL E G H | 1413 | 610425 | Cataract 23, multiple types | 610425 | C3808012 | OMIM | 1 | | 153 | 2396 | 123631 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB1 CL E G H | 1414 | 611544 | Cataract, congenital nuclear, autosomal recessive 3 | 611544 | C1969062 | OMIM | 1 | | 92 | 2397 | 600929 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB2 CL E G H | 1415 | 601547 | Cataract 3, multiple types | 601547 | C1832175 | OMIM | 1 | | 108 | 2398 | 123620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYBB3 CL E G H | 1417 | 609741 | Cataract, congenital nuclear, autosomal recessive 2 | 609741 | C1857853 | OMIM | 1 | | 100 | 2400 | 123630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGB CL E G H | 1419 | 615188 | Cataract 39, multiple types | 615188 | C3808800 | OMIM | 1 | | 58 | 2409 | 123670 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGC CL E G H | 1420 | 604307 | Cataract, coppock-like | 604307 | C1852438 | OMIM | 1 | | 84 | 2410 | 123680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGD CL E G H | 1421 | 115700 | Aculeiform cataract | 115700 | C1861832 | OMIM | 1 | | 98 | 2411 | 123690 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYGS CL E G H | 1427 | 116100 | Membranous cataract | 116100 | C0524524 | OMIM | 1 | | 73 | 2417 | 123730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CRYM CL E G H | 1428 | 616357 | Deafness, autosomal dominant 40 | 616357 | C4084708 | OMIM | 1 | | 101 | 2418 | 123740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSNK1D CL E G H | 1453 | 615224 | Advanced sleep phase syndrome, familial, 2 | 615224 | C3808874 | OMIM | 1 | | 29 | 2452 | 600864 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 196 | 2457 | 115440 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSRP3 CL E G H | 8048 | 607482 | Dilated cardiomyopathy 1M | 607482 | C1843808 | OMIM | 1 | | 364 | 2472 | 600824 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CSRP3 CL E G H | 8048 | 612124 | Familial hypertrophic cardiomyopathy 12 | 612124 | C2677491 | OMIM | 1 | | 364 | 2472 | 600824 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 42 | 2475 | 604312 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 235 | 13723 | 604167 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTLA4 CL E G H | 1493 | 616100 | Autoimmune lymphoproliferatiVe syndrome, type V | 616100 | C4015214 | OMIM | 1 | | 190 | 2505 | 123890 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNA1 CL E G H | 1495 | 608970 | Macular dystrophy, patterned, 2 | 608970 | C1837029 | OMIM | 1 | | 2087 | 2509 | 116805 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNA3 CL E G H | 29119 | 615616 | Arrhythmogenic right ventricular dysplasia, familial, 13 | 615616 | C3810138 | OMIM | 1 | | 739 | 2511 | 607667 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 155255 | Medulloblastoma | 155255 | C0025149 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTNNB1 CL E G H | 1499 | 132600 | Pilomatrixoma | 132600 | C0206711 | OMIM | 1 | | 468 | 2514 | 116806 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CTSB CL E G H | 1508 | 148370 | Keratolytic winter erythema | 148370 | C0406756 | OMIM | 1 | | 219 | 2527 | 116810 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CUL3 CL E G H | 8452 | 614496 | Pseudohypoaldosteronism type 2E | 614496 | C3469606 | OMIM | 1 | | 268 | 2553 | 603136 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 119 | 2561 | 162643 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYCS CL E G H | 54205 | 612004 | Thrombocytopenia 4 | 612004 | C2677608 | OMIM | 1 | | 61 | 19986 | 123970 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 132700 | Cylindromatosis, familial | 132700 | C1851526 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYLD CL E G H | 1540 | 605041 | Spiegler-Brooke syndrome | 605041 | C1857941 | OMIM | 1 | | 252 | 2584 | 605018 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP11B1 CL E G H | 1584 | 103900 | Hyperaldosteronism, familial, type I | 103900 | C1260386 | OMIM | 1 | | 582 | 2591 | 610613 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP19A1 CL E G H | 1588 | 139300 | Familial gynecomastia, due to increased aromatase activity | 139300 | C1970109 | OMIM | 1 | | 341 | 2594 | 107910 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP24A1 CL E G H | 1591 | 143880 | Idiopathic hypercalcemia of infancy | 143880 | C0268080 | OMIM | 1 | | 234 | 2602 | 126065 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP2A6 CL E G H | 1548 | 122700 | Warfarin response | 122700 | CN078029 | OMIM | 1 | | 31 | 2610 | 122720 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CYP2C9 CL E G H | 1559 | 122700 | Warfarin response | 122700 | CN078029 | OMIM | 1 | | 40 | 2623 | 601130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 82 | 2661 | 603448 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DACT1 CL E G H | 51339 | 617466 | Townes-Brocks syndrome 2 | 617466 | C4479534 | OMIM | 1 | | 60 | 17748 | 607861 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCC CL E G H | 1630 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 175 | 2701 | 120470 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCC CL E G H | 1630 | 133239 | Malignant tumor of esophagus | 133239 | C0546837 | OMIM | 1 | | 175 | 2701 | 120470 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCC CL E G H | 1630 | 157600 | Mirror movements 1 | 157600 | C1834870 | OMIM | 1 | | 175 | 2701 | 120470 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCHS1 CL E G H | 8642 | 607829 | Mitral valve prolapse 2 | 607829 | C1843003 | OMIM | 1 | | 636 | 13681 | 603057 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCN CL E G H | 1634 | 610048 | Congenital Stromal Corneal Dystrophy | 610048 | C1864738 | OMIM | 1 | | 63 | 2705 | 125255 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DDX58 CL E G H | 23586 | 616298 | Singleton-Merten syndrome 2 | 616298 | C4225380 | OMIM | 1 | | | 19102 | 609631 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DEPDC5 CL E G H | 9681 | 604364 | Epilepsy, familial focal, with variable foci 1 | 604364 | C1858477 | OMIM | 1 | | 1614 | 18423 | 614191 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 604765 | Dilated cardiomyopathy 1I | 604765 | C1858154 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DES CL E G H | 1674 | 181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | 181400 | C1867005 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 409 | 2845 | 600594 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 336 | 2846 | 601279 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 2847 | 609030 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DHTKD1 CL E G H | 55526 | 615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | 615025 | C3554366 | OMIM | 1 | | 428 | 23537 | 614984 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIABLO CL E G H | 56616 | 614152 | Deafness, autosomal dominant 64 | 614152 | C3279948 | OMIM | 1 | | 100 | 21528 | 605219 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIAPH1 CL E G H | 1729 | 124900 | Deafness, autosomal dominant 1 | 124900 | C1852282 | OMIM | 1 | | 939 | 2876 | 602121 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIAPH3 CL E G H | 81624 | 609129 | Auditory neuropathy, autosomal dominant, 1 | 609129 | C1836743 | OMIM | 1 | | 327 | 15480 | 614567 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 4950 | 17098 | 606241 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DICER1 CL E G H | 23405 | 138800 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 138800 | C0018022 | OMIM | 1 | | 4950 | 17098 | 606241 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DIP2B CL E G H | 57609 | 136630 | Mental retardation, fra12a type | 136630 | C1969893 | OMIM | 1 | | 47 | 29284 | 611379 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DISC2 CL E G H | 27184 | 181500 | Schizophrenia | 181500 | C0036341 | OMIM | 1 | | 43 | 2889 | 606271 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLC1 CL E G H | 10395 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 213 | 2897 | 604258 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 1 | | 137 | 2910 | 605185 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX3 CL E G H | 1747 | 104510 | Amelogenesis imperfecta, type IV | 104510 | C1863012 | OMIM | 1 | | 118 | 2916 | 600525 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX3 CL E G H | 1747 | 190320 | Tricho-dento-osseous syndrome | 190320 | C0265333 | OMIM | 1 | | 118 | 2916 | 600525 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DLX4 CL E G H | 1748 | 616788 | Orofacial cleft 15 | 616788 | C4225209 | OMIM | 1 | | 23 | 2917 | 601911 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DMXL2 CL E G H | 23312 | 617605 | DEAFNESS, AUTOSOMAL DOMINANT 71 | 617605 | C4539881 | OMIM | 1 | | 439 | 2938 | 612186 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 393 | 16235 | 611203 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 622 | 2972 | 602377 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM1L CL E G H | 10059 | 610708 | Optic atrophy 5 | 610708 | C1853139 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT3A CL E G H | 1788 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 359 | 2978 | 602769 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DNMT3A CL E G H | 1788 | 615879 | Tatton-Brown-rahman syndrome | 615879 | C4014545 | OMIM | 1 | | 359 | 2978 | 602769 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPAGT1 CL E G H | 1798 | 614750 | Congenital myasthenic syndrome 13 | 614750 | C3553645 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DPP6 CL E G H | 1804 | 616311 | Mental retardation, autosomal dominant 33 | 616311 | C4225375 | OMIM | 1 | | 225 | 3010 | 126141 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSC2 CL E G H | 1824 | 610476 | Arrhythmogenic right ventricular cardiomyopathy, type 11 | 610476 | C1864850 | OMIM | 1 | | 1242 | 3036 | 125645 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSG1 CL E G H | 1828 | 148700 | Keratosis palmoplantaris striata 1 | 148700 | C2931122 | OMIM | 1 | | 408 | 3048 | 125670 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSG2 CL E G H | 1829 | 610193 | Arrhythmogenic right ventricular cardiomyopathy, type 10 | 610193 | C1857777 | OMIM | 1 | | 1379 | 3049 | 125671 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 607450 | Arrhythmogenic right ventricular cardiomyopathy, type 8 | 607450 | C1843896 | OMIM | 1 | | 3384 | 3052 | 125647 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | 615821 | C4014393 | OMIM | 1 | | 3384 | 3052 | 125647 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 605676 | Dilated cardiomyopathy with woolly hair and keratoderma | 605676 | C1854063 | OMIM | 1 | | 3384 | 3052 | 125647 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSP CL E G H | 1832 | 612908 | Keratosis palmoplantaris striata II | 612908 | C1852127 | OMIM | 1 | | 3384 | 3052 | 125647 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 605594 | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 605594 | C1854146 | OMIM | 1 | | 279 | 3054 | 125485 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 125420 | Denticles | 125420 | C1527284 | OMIM | 1 | | 279 | 3054 | 125485 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 125490 | Dentinogenesis imperfecta - Shield's type II | 125490 | C0205730 | OMIM | 1 | | 279 | 3054 | 125485 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSPP CL E G H | 1834 | 125500 | Dentinogenesis imperfecta - Shield's type III | 125500 | C0399378 | OMIM | 1 | | 279 | 3054 | 125485 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DSTYK CL E G H | 25778 | 610805 | Congenital anomalies of kidney and urinary tract 1, susceptibility to | 610805 | C1835826 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DTNA CL E G H | 1837 | 604169 | Left ventricular noncompaction 1 | 604169 | C1858725 | OMIM | 1 | | 475 | 3057 | 601239 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DUSP6 CL E G H | 1848 | 615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | 615269 | C3808981 | OMIM | 1 | | 51 | 3072 | 602748 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DUSP6 CL E G H | 1848 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 51 | 3072 | 602748 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL1 CL E G H | 1855 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 492 | 3084 | 601365 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL1 CL E G H | 1855 | 616331 | Robinow syndrome, autosomal dominant 2 | 616331 | C4225363 | OMIM | 1 | | 492 | 3084 | 601365 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL3 CL E G H | 1857 | 180700 | Robinow syndrome | 180700 | C0265205 | OMIM | 1 | | 189 | 3087 | 601368 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 189 | 3087 | 601368 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYNC1H1 CL E G H | 1778 | 158600 | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 158600 | C1834690 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYRK1A CL E G H | 1859 | 614104 | Mental retardation, autosomal dominant 7 | 614104 | C3279839 | OMIM | 1 | | 768 | 3091 | 600855 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | DYRK1B CL E G H | 9149 | 615812 | Abdominal obesity-metabolic syndrome 3 | 615812 | C4014361 | OMIM | 1 | | 49 | 3092 | 604556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EBF3 CL E G H | 253738 | 617330 | Hypotonia, ataxia, and delayed development syndrome | 617330 | C4310618 | OMIM | 1 | | 229 | 19087 | 607407 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ECE1 CL E G H | 1889 | 613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 | C3151237 | OMIM | 1 | | 49 | 3146 | 600423 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDAR CL E G H | 10913 | 129490 | Autosomal dominant hypohidrotic ectodermal dysplasia | 129490 | C1720965 | OMIM | 1 | | 299 | 2895 | 604095 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDARADD CL E G H | 128178 | 129490 | Autosomal dominant hypohidrotic ectodermal dysplasia | 129490 | C1720965 | OMIM | 1 | | 202 | 14341 | 606603 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDARADD CL E G H | 128178 | 614940 | Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant | 614940 | C3541517 | OMIM | 1 | | 202 | 14341 | 606603 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN1 CL E G H | 1906 | 612798 | Question mark ears, isolated | 612798 | C2748545 | OMIM | 1 | | 52 | 3176 | 131240 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN3 CL E G H | 1908 | 209880 | Congenital central hypoventilation | 209880 | C1275808 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDN3 CL E G H | 1908 | 613265 | Waardenburg syndrome type 4B | 613265 | C2750457 | OMIM | 1 | | 155 | 3178 | 131242 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRA CL E G H | 1909 | 616367 | Mandibulofacial dysostosis with alopecia | 616367 | C4225349 | OMIM | 1 | | 79 | 3179 | 131243 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | | 274 | 3180 | 131244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF1A2 CL E G H | 1917 | 616409 | Epileptic encephalopathy, early infantile, 33 | 616409 | C4225337 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF1A2 CL E G H | 1917 | 616393 | Mental retardation, autosomal dominant 38 | 616393 | C4225343 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFEMP1 CL E G H | 2202 | 126600 | Doyne honeycomb retinal dystrophy | 126600 | C1832174 | OMIM | 1 | | 260 | 3218 | 601548 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 363 | 30858 | 603892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGLN1 CL E G H | 54583 | 609820 | Erythrocytosis, familial, 3 | 609820 | C1853286 | OMIM | 1 | | 745 | 1232 | 606425 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 605253 | Congenital hypomyelinating neuropathy | 605253 | C0393818 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EHHADH CL E G H | 1962 | 615605 | Fanconi renotubular syndrome 3 | 615605 | C3810100 | OMIM | 1 | | 179 | 3247 | 607037 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EHMT1 CL E G H | 79813 | 610253 | Chromosome 9q deletion syndrome | 610253 | C0795833 | OMIM | 1 | | 1570 | 24650 | 607001 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 432 | 3309 | 130130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 432 | 3309 | 130130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 123700 | Cutis laxa, autosomal dominant 1 | 123700 | C3276539 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 185500 | Supravalvar aortic stenosis | 185500 | C0003499 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL4 CL E G H | 6785 | 600110 | Stargardt Disease 3 | 600110 | C1838644 | OMIM | 1 | | 242 | 14415 | 605512 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 63 | 21308 | 611805 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ELP4 CL E G H | 26610 | 617141 | Aniridia 2 | 617141 | C0344543 | OMIM | 1 | | 233 | 1171 | 606985 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENAM CL E G H | 10117 | 104500 | Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 104500 | C0399368 | OMIM | 1 | | 152 | 3344 | 606585 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1240 | 3349 | 131195 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ENPP1 CL E G H | 5167 | 615522 | Cole disease | 615522 | C3809781 | OMIM | 1 | | 438 | 3356 | 173335 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPAS1 CL E G H | 2034 | 611783 | Erythrocytosis, familial, 4 | 611783 | C2673187 | OMIM | 1 | | 1039 | 3374 | 603349 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPB41 CL E G H | 2035 | 611804 | Elliptocytosis 1 | 611804 | C2678497 | OMIM | 1 | | 72 | 3377 | 130500 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPB41L1 CL E G H | 2036 | 614257 | Mental retardation, autosomal dominant 11 | 614257 | C3280285 | OMIM | 1 | | 75 | 3378 | 602879 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHA2 CL E G H | 1969 | 116600 | Cataract 6, multiple types | 116600 | C1861825 | OMIM | 1 | | 243 | 3386 | 176946 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EPHB4 CL E G H | 2050 | 617300 | Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | 617300 | C4310629 | OMIM | 1 | | 465 | 3395 | 600011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB2 CL E G H | 2064 | 137800 | Glioma susceptibility 1 | 137800 | C2750850 | OMIM | 1 | | 418 | 3430 | 164870 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB2 CL E G H | 2064 | 211980 | Lung cancer | 211980 | C0684249 | OMIM | 1 | | 418 | 3430 | 164870 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERBB4 CL E G H | 2066 | 615515 | Amyotrophic lateral sclerosis 19 | 615515 | C3715155 | OMIM | 1 | | 321 | 3432 | 600543 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERCC6 CL E G H | 2074 | 616946 | Premature ovarian failure 11 | 616946 | C4310783 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERF CL E G H | 2077 | 617180 | Chitayat syndrome | 617180 | C4310679 | OMIM | 1 | | 131 | 3444 | 611888 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERF CL E G H | 2077 | 600775 | Lambdoidal craniosynostosis | 600775 | C1833340 | OMIM | 1 | | 131 | 3444 | 611888 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ERMARD CL E G H | 55780 | 615544 | Periventricular nodular heterotopia 6 | 615544 | C3809872 | OMIM | 1 | | 238 | 21056 | 615532 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESR1 CL E G H | 2099 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | | 191 | 3467 | 133430 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 16817 | 601755 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ETV6 CL E G H | 2120 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 185 | 3495 | 600618 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 1 | | 185 | 3495 | 600618 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1306 | 3497 | 604831 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1283 | 19747 | 607261 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EXT1 CL E G H | 2131 | 133700 | Multiple congenital exostosis | 133700 | C0015306 | OMIM | 1 | | 701 | 3512 | 608177 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EXT2 CL E G H | 2132 | 133701 | Multiple exostoses type 2 | 133701 | C1851413 | OMIM | 1 | | 532 | 3513 | 608210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 602588 | Branchiootic syndrome | 602588 | C1865143 | OMIM | 1 | | 434 | 3519 | 601653 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 113650 | Melnick-Fraser syndrome | 113650 | C0265234 | OMIM | 1 | | 434 | 3519 | 601653 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA1 CL E G H | 2138 | 166780 | Otofaciocervical syndrome 1 | 166780 | C3714941 | OMIM | 1 | | 434 | 3519 | 601653 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA4 CL E G H | 2070 | 601316 | Deafness, autosomal dominant 10 | 601316 | C1832476 | OMIM | 1 | | 682 | 3522 | 603550 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EYA4 CL E G H | 2070 | 605362 | Dilated cardiomyopathy 1J | 605362 | C1854368 | OMIM | 1 | | 682 | 3522 | 603550 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F11 CL E G H | 2160 | 612416 | Hereditary factor XI deficiency disease | 612416 | C0015523 | OMIM | 1 | | 599 | 3529 | 264900 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F12 CL E G H | 2161 | 610618 | Hereditary angioneurotic edema with normal C1 esterase inhibitor activity | 610618 | C1857728 | OMIM | 1 | | 146 | 3530 | 610619 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F2 CL E G H | 2147 | 188050 | Venous thrombosis | 188050 | C0042487 | OMIM | 1 | | 138 | 3535 | 176930 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | F5 CL E G H | 2153 | 188055 | Thrombophilia due to activated protein C resistance | 188055 | C1861171 | OMIM | 1 | | 513 | 3542 | 612309 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 92 | 24725 | 615292 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111A CL E G H | 63901 | 127000 | Kenny-Caffey syndrome type 2 | 127000 | C4316787 | OMIM | 1 | | 92 | 24725 | 615292 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM111B CL E G H | 374393 | 615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 | C3810325 | OMIM | 1 | | 31 | 24200 | 615584 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAM83H CL E G H | 286077 | 130900 | Amelogenesis imperfecta, hypocalcification type | 130900 | C0399376 | OMIM | 1 | | 143 | 24797 | 611927 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAS CL E G H | 355 | 601859 | Autoimmune lymphoproliferative syndrome | 601859 | C1328840 | OMIM | 1 | | 313 | 11920 | 134637 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FASLG CL E G H | 356 | 601859 | Autoimmune lymphoproliferative syndrome | 601859 | C1328840 | OMIM | 1 | | 158 | 11936 | 134638 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN1 CL E G H | 2192 | 608180 | Synpolydactyly 2 | 608180 | C1842422 | OMIM | 1 | | 197 | 3600 | 135820 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 1 | | 315 | 3602 | 604580 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBLN5 CL E G H | 10516 | 614434 | Cutis laxa, autosomal dominant 2 | 614434 | C3280794 | OMIM | 1 | | 315 | 3602 | 604580 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 102370 | Acromicric dysplasia | 102370 | C0265287 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 129600 | Ectopia lentis, isolated, autosomal dominant | 129600 | C1851286 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 614185 | Geleophysic dysplasia 2 | 614185 | C3280054 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 604308 | MASS syndrome | 604308 | C1858556 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 184900 | Stiff skin syndrome | 184900 | C1861456 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN1 CL E G H | 2200 | 608328 | Weill-Marchesani syndrome 2 | 608328 | C1869115 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN2 CL E G H | 2201 | 121050 | Congenital contractural arachnodactyly | 121050 | C0220668 | OMIM | 1 | | 2309 | 3604 | 612570 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBN2 CL E G H | 2201 | 616118 | Macular degeneration, early-onset | 616118 | C4015286 | OMIM | 1 | | 2309 | 3604 | 612570 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 461 | 28844 | 608533 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FCGR2C CL E G H | 9103 | 188030 | Autoimmune thrombocytopenia | 188030 | C0398650 | OMIM | 1 | | 28 | 15626 | 612169 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FECH CL E G H | 2235 | 177000 | Erythropoietic protoporphyria | 177000 | C0162568 | OMIM | 1 | | 308 | 3647 | 612386 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FEZF1 CL E G H | 389549 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 77 | 22788 | 613301 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGA CL E G H | 2243 | 105200 | Familial visceral amyloidosis, Ostertag type | 105200 | C0268389 | OMIM | 1 | | 168 | 3661 | 134820 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF10 CL E G H | 2255 | 180920 | Congenital absence of salivary gland | 180920 | C0158667 | OMIM | 1 | | 74 | 3666 | 602115 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF10 CL E G H | 2255 | 149730 | Levy-Hollister syndrome | 149730 | C0265269 | OMIM | 1 | | 74 | 3666 | 602115 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 210 | 3668 | 601513 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | | 208 | 3671 | 601515 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 100 | 3673 | 603725 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF17 CL E G H | 8822 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 100 | 3673 | 603725 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF23 CL E G H | 8074 | 193100 | Autosomal dominant hypophosphatemic rickets | 193100 | C0342642 | OMIM | 1 | | 185 | 3680 | 605380 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF5 CL E G H | 2250 | 190330 | Trichomegaly | 190330 | C0854699 | OMIM | 1 | | 34 | 3683 | 165190 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF8 CL E G H | 2253 | 612702 | Kallmann syndrome 6 | 612702 | C2675188 | OMIM | 1 | | 77 | 3686 | 600483 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGF9 CL E G H | 2254 | 612961 | Multiple synostoses syndrome 3 | 612961 | C2751826 | OMIM | 1 | | 174 | 3687 | 600921 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 615465 | Hartsfield syndrome | 615465 | C1845146 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 123150 | Jackson-Weiss syndrome | 123150 | C0795998 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 166250 | Osteoglophonic dysplasia | 166250 | C0432283 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR1 CL E G H | 2260 | 190440 | Trigonocephaly 1 | 190440 | C0432122 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 123500 | Crouzon syndrome | 123500 | C0010273 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 123150 | Jackson-Weiss syndrome | 123150 | C0795998 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 149730 | Levy-Hollister syndrome | 149730 | C0265269 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR2 CL E G H | 2263 | 101400 | Saethre-Chotzen syndrome | 101400 | C0175699 | OMIM | 1 | | 567 | 3689 | 176943 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 109800 | Bladder cancer, somatic | 109800 | C0005684 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 610474 | Camptodactyly, tall stature, and hearing loss syndrome | 610474 | C1864852 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 162900 | Epidermal nevus | 162900 | C0334082 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 146000 | Hypochondroplasia | 146000 | C0410529 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 149730 | Levy-Hollister syndrome | 149730 | C0265269 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 602849 | Muenke syndrome | 602849 | C1864436 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFR3 CL E G H | 2261 | 187601 | Thanatophoric dysplasia, type 2 | 187601 | C1300257 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FH CL E G H | 2271 | 150800 | Multiple cutaneous leiomyomas | 150800 | C1708350 | OMIM | 1 | | 1594 | 3700 | 136850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FIG4 CL E G H | 9896 | 612577 | Amyotrophic lateral sclerosis type 11 | 612577 | C2675491 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FKBP10 CL E G H | 60681 | 610968 | Osteogenesis imperfecta, type XI | 610968 | C3151218 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 135150 | Multiple fibrofolliculomas | 135150 | C0346010 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLCN CL E G H | 201163 | 173600 | Pneumothorax, primary spontaneous | 173600 | C1868193 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLG CL E G H | 2312 | 146700 | Ichthyosis vulgaris | 146700 | C0079584 | OMIM | 1 | | 420 | 3748 | 135940 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLI1 CL E G H | 2313 | 617443 | Bleeding disorder, platelet-type, 21 | 617443 | C4479515 | OMIM | 1 | | 178 | 3749 | 193067 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 108721 | Atelosteogenesis type 3 | 108721 | C3668942 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 112310 | Boomerang dysplasia | 112310 | C0432201 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNB CL E G H | 2317 | 150250 | Larsen syndrome, dominant type | 150250 | C1835564 | OMIM | 1 | | 1155 | 3755 | 603381 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 617047 | Cardiomyopathy, familial hypertrophic, 26 | 617047 | C4310749 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLRT3 CL E G H | 23767 | 615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | 615271 | C3808986 | OMIM | 1 | | 54 | 3762 | 604808 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLRT3 CL E G H | 23767 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 54 | 3762 | 604808 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT3 CL E G H | 2322 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 208 | 3765 | 136351 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT4 CL E G H | 2324 | 602089 | Hemangioma, capillary infantile | 602089 | C1865871 | OMIM | 1 | | 283 | 3767 | 136352 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FLT4 CL E G H | 2324 | 153100 | Hereditary lymphedema type I | 153100 | C1704423 | OMIM | 1 | | 283 | 3767 | 136352 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FN1 CL E G H | 2335 | 601894 | Glomerulopathy with fibronectin deposits 2 | 601894 | C1866075 | OMIM | 1 | | 759 | 3778 | 135600 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FN1 CL E G H | 2335 | 614101 | Plasma fibronectin deficiency | 614101 | C2675436 | OMIM | 1 | | 759 | 3778 | 135600 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FN1 CL E G H | 2335 | 184255 | Spondylometaphyseal dysplasia - Sutcliffe type | 184255 | C0432221 | OMIM | 1 | | 759 | 3778 | 135600 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC1 CL E G H | 2296 | 601631 | Anterior segment dysgenesis 3 | 601631 | C1866560 | OMIM | 1 | | 396 | 3800 | 601090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC1 CL E G H | 2296 | 602482 | Axenfeld-Rieger syndrome type 3 | 602482 | C2678503 | OMIM | 1 | | 396 | 3800 | 601090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXC2 CL E G H | 2303 | 153400 | Distichiasis-lymphedema syndrome | 153400 | C0265345 | OMIM | 1 | | 125 | 3801 | 602402 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXF1 CL E G H | 2294 | 265380 | Persistent fetal circulation | 265380 | C0031190 | OMIM | 1 | | 152 | 3809 | 601089 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXL2 CL E G H | 668 | 110100 | Blepharophimosis, ptosis, and epicanthus inversus | 110100 | C0220663 | OMIM | 1 | | 186 | 1092 | 605597 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXL2 CL E G H | 668 | 608996 | Premature ovarian failure 3 | 608996 | C1837008 | OMIM | 1 | | 186 | 1092 | 605597 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 449 | 3823 | 605515 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FOXP2 CL E G H | 93986 | 602081 | Speech-language disorder 1 | 602081 | C0750927 | OMIM | 1 | | 330 | 13875 | 605317 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FREM1 CL E G H | 158326 | 614485 | Trigonocephaly 2 | 614485 | C3280974 | OMIM | 1 | | 600 | 23399 | 608944 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FSCN2 CL E G H | 25794 | 607921 | Retinitis pigmentosa 30 | 607921 | C1842816 | OMIM | 1 | | 453 | 3960 | 607643 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FSHR CL E G H | 2492 | 608115 | Ovarian hyperstimulation syndrome | 608115 | C0085083 | OMIM | 1 | | 176 | 3969 | 136435 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTH1 CL E G H | 2495 | 615517 | Hemochromatosis type 5 | 615517 | CN181217 | OMIM | 1 | | 58 | 3976 | 134770 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 600886 | Hyperferritinemia cataract syndrome | 600886 | C1833213 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 615604 | L-ferritin deficiency | 615604 | C3810090 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FUS CL E G H | 2521 | 614782 | Tremor, hereditary essential, 4 | 614782 | C3539195 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FXYD2 CL E G H | 486 | 154020 | Renal magnesium wasting | 154020 | C1835171 | OMIM | 1 | | 77 | 4026 | 601814 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FZD2 CL E G H | 2535 | 164745 | Omodysplasia 2 | 164745 | C2750355 | OMIM | 1 | | 80 | 4040 | 600667 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | FZD4 CL E G H | 8322 | 133780 | Exudative vitreoretinopathy 1 | 133780 | C1851402 | OMIM | 1 | | 360 | 4042 | 604579 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRA1 CL E G H | 2554 | 615744 | Epileptic encephalopathy, early infantile, 19 | 615744 | C3810400 | OMIM | 1 | | 519 | 4075 | 137160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 173 | 4081 | 137190 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 732 | 4083 | 137192 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GABRG2 CL E G H | 2566 | 611277 | Familial febrile seizures 8 | 611277 | C1969810 | OMIM | 1 | | 528 | 4087 | 137164 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GAL CL E G H | 51083 | 616461 | Epilepsy, familial temporal lobe, 8 | 616461 | C4225318 | OMIM | 1 | | 69 | 4114 | 137035 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 1 | | 162 | 4138 | 104160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1118 | 4171 | 137295 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA2 CL E G H | 2624 | 614038 | Lymphedema, primary, with myelodysplasia | 614038 | C3279664 | OMIM | 1 | | 1118 | 4171 | 137295 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA3 CL E G H | 2625 | 146255 | Barakat syndrome | 146255 | C1840333 | OMIM | 1 | | 276 | 4172 | 131320 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 607941 | Atrial septal defect 2 | 607941 | C1842778 | OMIM | 1 | | 630 | 4173 | 600576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 614430 | Atrioventricular septal defect 4 | 614430 | C3280781 | OMIM | 1 | | 630 | 4173 | 600576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 615542 | Testicular anomalies with or without congenital heart disease | 615542 | C3809858 | OMIM | 1 | | 630 | 4173 | 600576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 187500 | Tetralogy of Fallot | 187500 | C0039685 | OMIM | 1 | | 630 | 4173 | 600576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA4 CL E G H | 2626 | 614429 | Ventricular septal defect 1 | 614429 | C3280777 | OMIM | 1 | | 630 | 4173 | 600576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA5 CL E G H | 140628 | 617912 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | 617912 | CN873437 | OMIM | 1 | | 270 | 15802 | 611496 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 614475 | Atrial septal defect 9 | 614475 | C3280943 | OMIM | 1 | | 378 | 4174 | 601656 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 614474 | Atrioventricular septal defect 5 | 614474 | C3280939 | OMIM | 1 | | 378 | 4174 | 601656 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 378 | 4174 | 601656 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATA6 CL E G H | 2627 | 187500 | Tetralogy of Fallot | 187500 | C0039685 | OMIM | 1 | | 378 | 4174 | 601656 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GATAD2B CL E G H | 57459 | 615074 | Mental retardation, autosomal dominant 18 | 615074 | C3554448 | OMIM | 1 | | 291 | 30778 | 614998 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 125853 | Diabetes mellitus type 2 | 125853 | C0011860 | OMIM | 1 | | 762 | 4195 | 138079 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 762 | 4195 | 138079 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 125851 | Maturity-onset diabetes of the young, type 2 | 125851 | C1841962 | OMIM | 1 | | 762 | 4195 | 138079 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 762 | 4195 | 138079 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCM2 CL E G H | 9247 | 617343 | Hyperparathyroidism 4 | 617343 | C4479229 | OMIM | 1 | | 151 | 4198 | 603716 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 151 | 4198 | 603716 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCNT2 CL E G H | 2651 | 116700 | Cataract 13 with adult i phenotype | 116700 | C3805373 | OMIM | 1 | | 217 | 4204 | 600429 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GCNT2 CL E G H | 2651 | 110800 | I blood group system | 110800 | C1862229 | OMIM | 1 | | 217 | 4204 | 600429 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF1 CL E G H | 2657 | 613854 | Transposition of the great arteries, dextro-looped 3 | 613854 | C3151221 | OMIM | 1 | | 326 | 4214 | 602880 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF2 CL E G H | 2658 | 615506 | Telangiectasia, hereditary hemorrhagic, type 5 | 615506 | C3809710 | OMIM | 1 | | 292 | 4217 | 605120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF3 CL E G H | 9573 | 613702 | Klippel-Feil syndrome 3, autosomal dominant | 613702 | C3150967 | OMIM | 1 | | 80 | 4218 | 606522 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF3 CL E G H | 9573 | 613703 | Microphthalmia, isolated, with coloboma 6 | 613703 | C3150968 | OMIM | 1 | | 80 | 4218 | 606522 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL E G H | 8200 | 615072 | Brachydactyly, type a1, c | 615072 | C3554446 | OMIM | 1 | | 175 | 4220 | 601146 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | GDF5 CL |