Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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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 | | 57 | 7 | 103950 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A4GALT CL E G H | 53947 | 111400 | p phenotype | 111400 | C0599990 | OMIM | 1 | | 61 | 18149 | 607922 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | A4GALT CL E G H | 53947 | 111400 | p phenotype | 111400 | C0599990 | OMIM | 1 | | 71 | 18149 | 607922 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AAGAB CL E G H | 79719 | 148600 | Keratosis palmoplantaris papulosa | 148600 | C1835662 | OMIM | 1 | | 82 | 25662 | 614888 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AAGAB CL E G H | 79719 | 148600 | Keratosis palmoplantaris papulosa | 148600 | C1835662 | OMIM | 1 | | 87 | 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 | | 576 | 29 | 600046 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA1 CL E G H | 19 | 604091 | Familial hypoalphalipoproteinemia | 604091 | C1704429 | OMIM | 1 | | 664 | 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 | | 2128 | 34 | 601691 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2534 | 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 | | 50 | 35 | 612503 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 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 | | 412 | 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 | | 425 | 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 | | 80 | 47 | 605452 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCB6 CL E G H | 10058 | 615402 | Dyschromatosis universalis hereditaria 3 | 615402 | C3809394 | OMIM | 1 | | 87 | 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 | | 80 | 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 | | 87 | 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 | | 80 | 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 | | 87 | 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 | | 914 | 57 | 603234 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 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 | | 1125 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 125853 | Diabetes mellitus type 2 | 125853 | C0011860 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1253 | 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 | | 1125 | 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 | | 1253 | 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 | | 1125 | 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 | | 1253 | 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 | | 1125 | 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 | | 1253 | 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 | | 909 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 614050 | Atrial fibrillation, familial, 12 | 614050 | C3279695 | OMIM | 1 | | 1043 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 608569 | Dilated cardiomyopathy 1O | 608569 | C1837839 | OMIM | 1 | | 909 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 608569 | Dilated cardiomyopathy 1O | 608569 | C1837839 | OMIM | 1 | | 1043 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 909 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1043 | 60 | 601439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 165800 | Osteochondritis dissecans | 165800 | C0029421 | OMIM | 1 | | 359 | 319 | 155760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACAN CL E G H | 176 | 165800 | Osteochondritis dissecans | 165800 | C0029421 | OMIM | 1 | | 456 | 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 | | 359 | 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 | | 456 | 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 | | 229 | 25070 | 609377 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACD CL E G H | 65057 | 616553 | Dyskeratosis congenita, autosomal dominant 6 | 616553 | C4225284 | OMIM | 1 | | 321 | 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 | | 325 | 129 | 102610 |
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 | | 362 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 325 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 362 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 325 | 129 | 102610 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 362 | 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 | | 362 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 611788 | Aortic aneurysm, familial thoracic 6 | 611788 | C2673186 | OMIM | 1 | | 387 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 614042 | Moyamoya disease 5 | 614042 | C3279690 | OMIM | 1 | | 362 | 130 | 102620 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTA2 CL E G H | 59 | 614042 | Moyamoya disease 5 | 614042 | C3279690 | OMIM | 1 | | 387 | 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 | | 362 | 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 | | 387 | 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 | | 322 | 132 | 102630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 607371 | Juvenile-onset dystonia | 607371 | C1846331 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTB CL E G H | 60 | 607371 | Juvenile-onset dystonia | 607371 | C1846331 | OMIM | 1 | | 349 | 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 | | 507 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 612794 | Atrial septal defect 5 | 612794 | C2748552 | OMIM | 1 | | 544 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 613424 | Dilated cardiomyopathy 1R | 613424 | C3150681 | OMIM | 1 | | 507 | 143 | 102540 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTC1 CL E G H | 70 | 613424 | Dilated cardiomyopathy 1R | 613424 | C3150681 | OMIM | 1 | | 544 | 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 | | 507 | 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 | | 544 | 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 | | 347 | 144 | 102560 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG1 CL E G H | 71 | 604717 | Deafness, autosomal dominant 20 | 604717 | C1858172 | OMIM | 1 | | 370 | 144 | 102560 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 63 | 145 | 102545 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTG2 CL E G H | 72 | 155310 | Visceral myopathy | 155310 | C1835084 | OMIM | 1 | | 67 | 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 | | 135 | 163 | 102575 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN1 CL E G H | 87 | 615193 | Platelet-type bleeding disorder 15 | 615193 | C3554663 | OMIM | 1 | | 139 | 163 | 102575 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 612158 | Dilated cardiomyopathy 1AA | 612158 | C2677338 | OMIM | 1 | | 880 | 164 | 102573 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN2 CL E G H | 88 | 612158 | Dilated cardiomyopathy 1AA | 612158 | C2677338 | OMIM | 1 | | 973 | 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 | | 169 | 166 | 604638 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACTN4 CL E G H | 81 | 603278 | Focal segmental glomerulosclerosis 1 | 603278 | C0333497 | OMIM | 1 | | 191 | 166 | 604638 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR1 CL E G H | 90 | 135100 | Progressive myositis ossificans | 135100 | C0016037 | OMIM | 1 | | 122 | 171 | 102576 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR1 CL E G H | 90 | 135100 | Progressive myositis ossificans | 135100 | C0016037 | OMIM | 1 | | 141 | 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 | | 305 | 174 | 602730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVR2B CL E G H | 93 | 613751 | Heterotaxy, visceral, 4, autosomal | 613751 | C3151057 | OMIM | 1 | | 315 | 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 | | 590 | 175 | 601284 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 655 | 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 | | 310 | 1839 | 607575 |
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 | | 390 | 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 | | 60 | 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 | | 471 | 225 | 146920 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADAR CL E G H | 103 | 127400 | Symmetrical dyschromatosis of extremities | 127400 | C0406775 | OMIM | 1 | | 654 | 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 | | 293 | 236 | 600293 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRE2 CL E G H | 30817 | 125630 | Vibratory urticaria | 125630 | C1852146 | OMIM | 1 | | 41 | 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 | | 2459 | 17416 | 602851 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADGRV1 CL E G H | 84059 | 604352 | Febrile seizures, familial, 4 | 604352 | C1858493 | OMIM | 1 | | 3168 | 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 | | 251 | 15766 | 611386 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 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 | | 75 | 282 | 104260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 78 | 282 | 104260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 112 | 17869 | 604417 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 157 | 17869 | 604417 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 357 | 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 | | 47 | 26504 | 615496 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AGBL1 CL E G H | 123624 | 615523 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 | C3809798 | OMIM | 1 | | 49 | 26504 | 615496 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 312 | 25230 | 615790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 373 | 25230 | 615790 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 395 | 358 | 605555 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 487 | 358 | 605555 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 102200 | Somatotroph adenoma | 102200 | C0346302 | OMIM | 1 | | 395 | 358 | 605555 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIP CL E G H | 9049 | 102200 | Somatotroph adenoma | 102200 | C0346302 | OMIM | 1 | | 487 | 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 | | 641 | 360 | 607358 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 718 | 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 | | 1108 | 379 | 604001 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKAP9 CL E G H | 10142 | 611820 | Long QT syndrome 11 | 611820 | C2678483 | OMIM | 1 | | 1324 | 379 | 604001 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 380 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 417 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 380 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 417 | 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 | | 380 | 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 | | 417 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 380 | 391 | 164730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT1 CL E G H | 207 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 417 | 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 | | 77 | 392 | 164731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AKT2 CL E G H | 208 | 125853 | Diabetes mellitus type 2 | 125853 | C0011860 | OMIM | 1 | | 94 | 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 | | 77 | 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 | | 94 | 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 | | 228 | 393 | 611223 |
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 | | 249 | 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 | | 346 | 9722 | 138250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 616603 | Cutis laxa, autosomal dominant 3 | 616603 | C4225268 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 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 | | 575 | 438 | 171760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALPL CL E G H | 249 | 146300 | Adult hypophosphatasia | 146300 | C0268413 | OMIM | 1 | | 671 | 438 | 171760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 245 | 450 | 605420 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 246 | 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 | | 86 | 483 | 105850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANG CL E G H | 283 | 611895 | Amyotrophic lateral sclerosis type 9 | 611895 | C2678468 | OMIM | 1 | | 91 | 483 | 105850 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPTL3 CL E G H | 27329 | 605019 | Hypobetalipoproteinemia, familial, 2 | 605019 | C1857970 | OMIM | 1 | | 56 | 491 | 604774 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANGPTL3 CL E G H | 27329 | 605019 | Hypobetalipoproteinemia, familial, 2 | 605019 | C1857970 | OMIM | 1 | | 63 | 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 | | 16 | 16039 | 605910 |
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 | | 567 | 492 | 612641 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK1 CL E G H | 286 | 182900 | Spherocytosis type 1 | 182900 | C2674218 | OMIM | 1 | | 604 | 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 | | 1677 | 493 | 106410 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANK2 CL E G H | 287 | 600919 | Cardiac arrhythmia, ankyrin B-related | 600919 | C1970119 | OMIM | 1 | | 1878 | 493 | 106410 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 410 | 15492 | 605145 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKH CL E G H | 56172 | 118600 | Chondrocalcinosis 2 | 118600 | C0856830 | OMIM | 1 | | 436 | 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 | | 410 | 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 | | 436 | 15492 | 605145 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1101 | 21316 | 611192 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1184 | 21316 | 611192 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD26 CL E G H | 22852 | 188000 | Thrombocytopenia 2 | 188000 | C1861185 | OMIM | 1 | | 349 | 29186 | 610855 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANKRD26 CL E G H | 22852 | 188000 | Thrombocytopenia 2 | 188000 | C1861185 | OMIM | 1 | | 399 | 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 | | 168 | 14082 | 616027 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANLN CL E G H | 54443 | 616032 | Focal segmental glomerulosclerosis 8 | 616032 | C4014993 | OMIM | 1 | | 224 | 14082 | 616027 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO3 CL E G H | 63982 | 615034 | Dystonia 24 | 615034 | C3554374 | OMIM | 1 | | 307 | 14004 | 610110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO3 CL E G H | 63982 | 615034 | Dystonia 24 | 615034 | C3554374 | OMIM | 1 | | 327 | 14004 | 610110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO5 CL E G H | 203859 | 166260 | Gnathodiaphyseal dysplasia | 166260 | C1833736 | OMIM | 1 | | 786 | 27337 | 608662 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ANO5 CL E G H | 203859 | 166260 | Gnathodiaphyseal dysplasia | 166260 | C1833736 | OMIM | 1 | | 900 | 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 | | 53 | 565 | 602242 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP2S1 CL E G H | 1175 | 600740 | Hypocalciuric hypercalcemia, familial, type III | 600740 | C1833372 | OMIM | 1 | | 61 | 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 | | 238 | 573 | 607244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AP4E1 CL E G H | 23431 | 184450 | Stuttering, familial persistent 1 | 184450 | C3489627 | OMIM | 1 | | 332 | 573 | 607244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 9051 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 9963 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 135290 | Desmoid disease, hereditary | 135290 | C1851124 | OMIM | 1 | | 9051 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 135290 | Desmoid disease, hereditary | 135290 | C1851124 | OMIM | 1 | | 9963 | 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 | | 9051 | 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 | | 9963 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 9051 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APC CL E G H | 324 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 9963 | 583 | 611731 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APCDD1 CL E G H | 147495 | 605389 | Hypotrichosis simplex | 605389 | C1854310 | OMIM | 1 | | 117 | 15718 | 607479 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APCDD1 CL E G H | 147495 | 605389 | Hypotrichosis simplex | 605389 | C1854310 | OMIM | 1 | | 121 | 15718 | 607479 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 604091 | Familial hypoalphalipoproteinemia | 604091 | C1704429 | OMIM | 1 | | 99 | 600 | 107680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA1 CL E G H | 335 | 604091 | Familial hypoalphalipoproteinemia | 604091 | C1704429 | OMIM | 1 | | 126 | 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 | | 99 | 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 | | 126 | 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 | | 54 | 17288 | 606368 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 62 | 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 | | 2340 | 603 | 107730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOB CL E G H | 338 | 144010 | Hypercholesterolemia, autosomal dominant, type B | 144010 | C1704417 | OMIM | 1 | | 2465 | 603 | 107730 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 78 | 613 | 107741 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 80 | 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 | | 78 | 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 | | 80 | 613 | 107741 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 320 | 620 | 104760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 364 | 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 | | 320 | 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 | | 364 | 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 | | 239 | 634 | 107777 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 247 | 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 | | 41 | 638 | 600442 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AQP5 CL E G H | 362 | 600231 | Diffuse palmoplantar keratoderma, Bothnian type | 600231 | C1838359 | OMIM | 1 | | 47 | 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 | | 69 | 649 | 600820 |
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 | | 95 | 649 | 600820 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP26 CL E G H | 23092 | 607785 | Juvenile myelomonocytic leukemia | 607785 | C0349639 | OMIM | 1 | | 41 | 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 | | 174 | 29216 | 610911 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 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 | | 324 | 14103 | 608136 |
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 | | 412 | 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 | | 383 | 11110 | 603024 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 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 | | 866 | 18040 | 614556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 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 | | 88 | 25781 | 615549 |
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 | | 89 | 25781 | 615549 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 420 | 735 | 613468 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 593 | 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 | | 155 | 17185 | 615054 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASB10 CL E G H | 136371 | 603383 | Glaucoma 1, open angle, F | 603383 | C1863926 | OMIM | 1 | | 163 | 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 | | 156 | 19088 | 607999 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 173 | 19088 | 607999 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 111 | 23805 | 612991 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 170 | 23805 | 612991 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 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 | | 310 | 11231 | 606439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 356 | 11231 | 606439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 310 | 11231 | 606439 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 356 | 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 | | 220 | 24526 | 609369 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATL3 CL E G H | 25923 | 615632 | Hereditary sensory neuropathy type IF | 615632 | C3810194 | OMIM | 1 | | 266 | 24526 | 609369 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 1 | | 96 | 3033 | 607462 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 1 | | 103 | 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 | | 726 | 800 | 182340 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 801 | 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 | | 726 | 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 | | 801 | 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 | | 625 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 687 | 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 | | 625 | 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 | | 687 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 687 | 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 | | 180 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 101900 | Acrokeratosis verruciformis of Hopf | 101900 | C0265971 | OMIM | 1 | | 184 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 124200 | Keratosis follicularis | 124200 | C0022595 | OMIM | 1 | | 180 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2A2 CL E G H | 488 | 124200 | Keratosis follicularis | 124200 | C0022595 | OMIM | 1 | | 184 | 812 | 108740 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2C1 CL E G H | 27032 | 169600 | Familial benign pemphigus | 169600 | C0085106 | OMIM | 1 | | 160 | 13211 | 604384 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP2C1 CL E G H | 27032 | 169600 | Familial benign pemphigus | 169600 | C0085106 | OMIM | 1 | | 164 | 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 | | 115 | 854 | 606939 |
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 | | 118 | 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 | | 115 | 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 | | 118 | 854 | 606939 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 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 | | 755 | 882 | 601215 |
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 | | 1007 | 882 | 601215 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 76 | 10548 | 601556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 78 | 10548 | 601556 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 99 | 10549 | 611150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 101 | 10549 | 611150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 50 | 10555 | 601517 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 52 | 10555 | 601517 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 44 | 7106 | 607047 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 37 | 10560 | 607640 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 39 | 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 | | 72 | 10561 | 603680 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 76 | 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 | | 439 | 14262 | 607270 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AVP CL E G H | 551 | 125700 | Neurohypophyseal diabetes insipidus | 125700 | C0687720 | OMIM | 1 | | 76 | 894 | 192340 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN1 CL E G H | 8312 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 83 | 903 | 603816 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN1 CL E G H | 8312 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 84 | 903 | 603816 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 1893 | 904 | 604025 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | AXIN2 CL E G H | 8313 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 2161 | 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 | | 1893 | 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 | | 2161 | 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 | | 78 | 905 | 109135 |
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 | | 87 | 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 | | 32 | 914 | 109700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | B2M CL E G H | 567 | 105200 | Familial visceral amyloidosis, Ostertag type | 105200 | C0268389 | OMIM | 1 | | 39 | 914 | 109700 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 613881 | Dilated cardiomyopathy 1HH | 613881 | C3151293 | OMIM | 1 | | 603 | 939 | 603883 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BAG3 CL E G H | 9531 | 613881 | Dilated cardiomyopathy 1HH | 613881 | C3151293 | OMIM | 1 | | 738 | 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 | | 603 | 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 | | 738 | 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 | | 1514 | 950 | 603089 |
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 | | 1683 | 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 | | 125 | 13221 | 606557 |
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 | | 129 | 13221 | 606557 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 118 | 13222 | 606558 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 197 | 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 | | 101 | 13815 | 605748 |
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 | | 103 | 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 | | 499 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 613194 | Retinitis pigmentosa 50 | 613194 | C2750788 | OMIM | 1 | | 595 | 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 | | 499 | 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 | | 595 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 193220 | Vitreoretinochoroidopathy | 193220 | C1860406 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BEST1 CL E G H | 7439 | 193220 | Vitreoretinochoroidopathy | 193220 | C1860406 | OMIM | 1 | | 595 | 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 | | 113 | 1040 | 603307 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP1 CL E G H | 631 | 611391 | Cataract 33, multiple types | 611391 | C3808107 | OMIM | 1 | | 118 | 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 | | 99 | 1041 | 603212 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BFSP2 CL E G H | 8419 | 611597 | Cataract 12, multiple types | 611597 | C3808115 | OMIM | 1 | | 105 | 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 | | 445 | 17208 | 609797 |
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 | | 506 | 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 | | 319 | 1057 | 191305 |
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 | | 346 | 1057 | 191305 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 29 | 1062 | 109750 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 193 | 1068 | 300247 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 196 | 1068 | 300247 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP2 CL E G H | 650 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 92 | 1069 | 112261 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP2 CL E G H | 650 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 111 | 1069 | 112261 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 1 | | 112 | 1071 | 112262 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 1 | | 129 | 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 | | 1455 | 1076 | 601299 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 610069 | Hereditary mixed polyposis syndrome 2 | 610069 | C1864730 | OMIM | 1 | | 1633 | 1076 | 601299 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 174900 | Juvenile polyposis syndrome | 174900 | C0345893 | OMIM | 1 | | 1455 | 1076 | 601299 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1A CL E G H | 657 | 174900 | Juvenile polyposis syndrome | 174900 | C0345893 | OMIM | 1 | | 1633 | 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 | | 251 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 616849 | Brachydactyly, type a1, d | 616849 | C4225183 | OMIM | 1 | | 273 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 251 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR1B CL E G H | 658 | 112600 | Type A2 brachydactyly | 112600 | C1832702 | OMIM | 1 | | 273 | 1077 | 603248 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 846 | 1078 | 600799 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMPR2 CL E G H | 659 | 178600 | Primary pulmonary hypertension | 178600 | C0152171 | OMIM | 1 | | 896 | 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 | | 846 | 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 | | 896 | 1078 | 600799 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BMS1 CL E G H | 9790 | 107600 | Aplasia cutis congenita | 107600 | C0282160 | OMIM | 1 | | 56 | 23505 | 611448 |
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 | | 618 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 211980 | Lung cancer | 211980 | C0684249 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 211980 | Lung cancer | 211980 | C0684249 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 680 | 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 | | 12207 | 1100 | 113705 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA1 CL E G H | 672 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | | 12586 | 1100 | 113705 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | | 13912 | 1101 | 600185 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BRCA2 CL E G H | 675 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | | 14742 | 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 | | 160 | 14255 | 602410 |
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 | | 173 | 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 | | 330 | 15832 | 606158 |
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 | | 373 | 15832 | 606158 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BUB1B CL E G H | 701 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | BUB1B CL E G H | 701 | 114500 | Carcinoma of colon | 114500 | C0699790 | OMIM | 1 | | 617 | 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 | | 413 | 14344 | 608752 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 521 | 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 | | 96 | 1246 | 613785 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | C1R CL E G H | 715 | 130080 | Ehlers-Danlos syndrome, type 8 | 130080 | C0268347 | OMIM | 1 | | 104 | 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 | | 121 | 1247 | 120580 |
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 | | 201 | 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 | | 161 | 28337 | 614260 |
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 | | 165 | 28337 | 614260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CA12 CL E G H | 771 | 143860 | Hyperchlorhidrosis, isolated | 143860 | C1840437 | OMIM | 1 | | 56 | 1371 | 603263 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CA4 CL E G H | 762 | 600852 | Retinitis pigmentosa 17 | 600852 | C1833245 | OMIM | 1 | | 142 | 1375 | 114760 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CA4 CL E G H | 762 | 600852 | Retinitis pigmentosa 17 | 600852 | C1833245 | OMIM | 1 | | 188 | 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 | | 2047 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2326 | 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 | | 2047 | 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 | | 2326 | 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 | | 2047 | 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 | | 2326 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 351 | 1389 | 601012 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 392 | 1389 | 601012 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 611875 | Brugada syndrome 3 | 611875 | C2678478 | OMIM | 1 | | 1658 | 1390 | 114205 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 611875 | Brugada syndrome 3 | 611875 | C2678478 | OMIM | 1 | | 1830 | 1390 | 114205 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 1658 | 1390 | 114205 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1C CL E G H | 775 | 601005 | Timothy syndrome | 601005 | C1832916 | OMIM | 1 | | 1830 | 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 | | 477 | 1391 | 114206 |
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 | | 744 | 1391 | 114206 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 374 | 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 | | 1707 | 1395 | 607904 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1H CL E G H | 8912 | 617027 | Hyperaldosteronism, familial, type IV | 617027 | C4310756 | OMIM | 1 | | 2095 | 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 | | 1154 | 1397 | 114208 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNA1S CL E G H | 779 | 170400 | Hypokalemic periodic paralysis 1 | 170400 | C3714580 | OMIM | 1 | | 1327 | 1397 | 114208 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB2 CL E G H | 783 | 611876 | Brugada syndrome 4 | 611876 | C2678477 | OMIM | 1 | | 519 | 1402 | 600003 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB2 CL E G H | 783 | 611876 | Brugada syndrome 4 | 611876 | C2678477 | OMIM | 1 | | 568 | 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 | | 300 | 1404 | 601949 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNB4 CL E G H | 785 | 613855 | Episodic ataxia, type 5 | 613855 | C1866039 | OMIM | 1 | | 305 | 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 | | 44 | 1406 | 602911 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CACNG2 CL E G H | 10369 | 614256 | Mental retardation, autosomal dominant 10 | 614256 | C3280284 | OMIM | 1 | | 45 | 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 | | 90 | 1442 | 114180 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM1 CL E G H | 801 | 616247 | Long QT syndrome 14 | 616247 | C4015671 | OMIM | 1 | | 94 | 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 | | 90 | 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 | | 94 | 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 | | 103 | 1445 | 114182 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALM2 CL E G H | 805 | 616249 | Long QT syndrome 15 | 616249 | C4015695 | OMIM | 1 | | 112 | 1445 | 114182 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 187950 | Essential thrombocythemia | 187950 | C0040028 | OMIM | 1 | | 39 | 1455 | 109091 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 187950 | Essential thrombocythemia | 187950 | C0040028 | OMIM | 1 | | 43 | 1455 | 109091 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 254450 | Myelofibrosis | 254450 | C0001815 | OMIM | 1 | | 39 | 1455 | 109091 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CALR CL E G H | 811 | 254450 | Myelofibrosis | 254450 | C0001815 | OMIM | 1 | | 43 | 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 | | 56 | 1460 | 114078 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 62 | 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 | | 88 | 1461 | 607707 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 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 | | 284 | 18806 | 611501 |
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 | | 298 | 18806 | 611501 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 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 | | 450 | 16393 | 607210 |
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 | | 540 | 16393 | 607210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 173200 | Pityriasis rubra pilaris | 173200 | C0032027 | OMIM | 1 | | 527 | 16446 | 607211 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 173200 | Pityriasis rubra pilaris | 173200 | C0032027 | OMIM | 1 | | 646 | 16446 | 607211 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 602723 | Psoriasis susceptibility 2 | 602723 | C1864497 | OMIM | 1 | | 527 | 16446 | 607211 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CARD14 CL E G H | 79092 | 602723 | Psoriasis susceptibility 2 | 602723 | C1864497 | OMIM | 1 | | 646 | 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 | | 297 | 1500 | 601762 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP10 CL E G H | 843 | 603909 | Autoimmune lymphoproliferative syndrome, type 2A | 603909 | C1858968 | OMIM | 1 | | 346 | 1500 | 601762 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP8 CL E G H | 841 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 194 | 1509 | 601763 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASP8 CL E G H | 841 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | | 230 | 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 | | 47 | 1512 | 114250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASQ1 CL E G H | 844 | 616231 | Myopathy, vacuolar, with casq1 aggregates | 616231 | C4015624 | OMIM | 1 | | 95 | 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 | | 378 | 1513 | 114251 |
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 | | 431 | 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 | | 1318 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 601198 | Hypocalcemia, autosomal dominant 1 | 601198 | C0342345 | OMIM | 1 | | 1569 | 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 | | 1318 | 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 | | 1569 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 1318 | 1514 | 601199 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 1569 | 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 | | 81 | 1527 | 601047 |
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 | | 85 | 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 | | 81 | 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 | | 85 | 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 | | 335 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 614321 | Distal myopathy, Tateyama type | 614321 | C3280443 | OMIM | 1 | | 354 | 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 | | 335 | 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 | | 354 | 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 | | 335 | 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 | | 354 | 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 | | 335 | 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 | | 354 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 335 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | | 354 | 1529 | 601253 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBFB CL E G H | 865 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 42 | 1539 | 121360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBFB CL E G H | 865 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 43 | 1539 | 121360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 607785 | Juvenile myelomonocytic leukemia | 607785 | C0349639 | OMIM | 1 | | 706 | 1541 | 165360 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CBL CL E G H | 867 | 607785 | Juvenile myelomonocytic leukemia | 607785 | C0349639 | OMIM | 1 | | 858 | 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 | | 706 | 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 | | 858 | 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 | | 39 | 1552 | 602770 |
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 | | 48 | 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 | | 144 | 26821 | 616031 |
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 | | 167 | 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 | | 184 | 18111 | 611051 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC50 CL E G H | 152137 | 607453 | Deafness, autosomal dominant 44 | 607453 | C1843895 | OMIM | 1 | | 195 | 18111 | 611051 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 329 | 14153 | 614666 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 392 | 14153 | 614666 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 258 | 19967 | 611204 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 265 | 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 | | 196 | 21708 | 607929 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CCM2 CL E G H | 83605 | 603284 | Cerebral cavernous malformations 2 | 603284 | C1864041 | OMIM | 1 | | 223 | 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 | | 110 | 1583 | 123833 |
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 | | 117 | 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 | | 66 | 1632 | 603356 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD164 CL E G H | 8763 | 616969 | Deafness, autosomal dominant 66 | 616969 | C4283893 | OMIM | 1 | | 74 | 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 | | 223 | 1633 | 107265 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD19 CL E G H | 930 | 240500 | Common variable immunodeficiency 2 | 240500 | C3150354 | OMIM | 1 | | 272 | 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 | | 193 | 1663 | 173510 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CD36 CL E G H | 948 | 608404 | Platelet glycoprotein IV deficiency | 608404 | C1842090 | OMIM | 1 | | 196 | 1663 | 173510 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145000 | Hyperparathyroidism 1 | 145000 | C1840402 | OMIM | 1 | | 704 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145000 | Hyperparathyroidism 1 | 145000 | C1840402 | OMIM | 1 | | 828 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145001 | Hyperparathyroidism 2 | 145001 | C1704981 | OMIM | 1 | | 704 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 145001 | Hyperparathyroidism 2 | 145001 | C1704981 | OMIM | 1 | | 828 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 608266 | Parathyroid carcinoma | 608266 | C0687150 | OMIM | 1 | | 704 | 16783 | 607393 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDC73 CL E G H | 79577 | 608266 | Parathyroid carcinoma | 608266 | C0687150 | OMIM | 1 | | 828 | 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 | | 2818 | 1748 | 192090 |
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 | | 3046 | 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 | | 2818 | 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 | | 3046 | 1748 | 192090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH1 CL E G H | 999 | 167000 | Neoplasm of ovary | 167000 | C0919267 | OMIM | 1 | | 3046 | 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 | | 179 | 1754 | 114019 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDH15 CL E G H | 1013 | 612580 | Mental retardation, autosomal dominant 3 | 612580 | C2675488 | OMIM | 1 | | 196 | 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 | | 191 | 1733 | 603309 |
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 | | 210 | 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 | | 507 | 1785 | 600778 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1B CL E G H | 1027 | 610755 | Multiple endocrine neoplasia, type 4 | 610755 | C1970712 | OMIM | 1 | | 596 | 1785 | 600778 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 130650 | Beckwith-Wiedemann syndrome | 130650 | C0004903 | OMIM | 1 | | 673 | 1786 | 600856 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN1C CL E G H | 1028 | 130650 | Beckwith-Wiedemann syndrome | 130650 | C0004903 | OMIM | 1 | | 806 | 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 | | 673 | 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 | | 806 | 1786 | 600856 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 155755 | Melanoma astrocytoma syndrome | 155755 | C1835042 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDKN2A CL E G H | 1029 | 155755 | Melanoma astrocytoma syndrome | 155755 | C1835042 | OMIM | 1 | | 1062 | 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 | | 971 | 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 | | 1062 | 1787 | 600160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 489 | 17104 | 608707 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDON CL E G H | 50937 | 614226 | Holoprosencephaly 11 | 614226 | C3280215 | OMIM | 1 | | 518 | 17104 | 608707 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDSN CL E G H | 1041 | 146520 | Hypotrichosis 2 | 146520 | C1840299 | OMIM | 1 | | 72 | 1802 | 602593 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CDSN CL E G H | 1041 | 146520 | Hypotrichosis 2 | 146520 | C1840299 | OMIM | 1 | | 76 | 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 | | 131 | 31948 | 614591 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEACAM16 CL E G H | 388551 | 614614 | Deafness, autosomal dominant 4b | 614614 | C3281297 | OMIM | 1 | | 151 | 31948 | 614591 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEBPA CL E G H | 1050 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 500 | 1833 | 116897 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CEBPA CL E G H | 1050 | 601626 | Acute myeloid leukemia | 601626 | C0023467 | OMIM | 1 | | 631 | 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 | | 151 | 1848 | 114840 |
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 | | 164 | 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 | | 34 | 18292 | 605194 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFC1 CL E G H | 55997 | 605376 | Heterotaxy, visceral, 2, autosomal | 605376 | C1415817 | OMIM | 1 | | 36 | 18292 | 605194 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 126700 | Basal laminar drusen | 126700 | C0730295 | OMIM | 1 | | 294 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 126700 | Basal laminar drusen | 126700 | C0730295 | OMIM | 1 | | 394 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 609814 | Factor H deficiency | 609814 | C0398777 | OMIM | 1 | | 294 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFH CL E G H | 3075 | 609814 | Factor H deficiency | 609814 | C0398777 | OMIM | 1 | | 394 | 4883 | 134370 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR5 CL E G H | 81494 | 614809 | CFHR5 deficiency | 614809 | C3553720 | OMIM | 1 | | 149 | 24668 | 608593 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CFHR5 CL E G H | 81494 | 614809 | CFHR5 deficiency | 614809 | C3553720 | OMIM | 1 | | 156 | 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 | | 191 | 20311 | 616327 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 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 | | 205 | 15559 | 615903 |
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 | | 230 | 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 | | 205 | 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 | | 230 | 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 | | 205 | 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 | | 230 | 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 | | 60 | 21645 | 616244 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 67 | 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 | | 1163 | 1917 | 602119 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1326 | 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 | | 190 | 1919 | 603277 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 217 | 1919 | 603277 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1752 | 20626 | 608892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1980 | 20626 | 608892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 612370 | Kallmann syndrome 5 | 612370 | C2675302 | OMIM | 1 | | 1752 | 20626 | 608892 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHD7 CL E G H | 55636 | 612370 | Kallmann syndrome 5 | 612370 | C2675302 | OMIM | 1 | | 1980 | 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 | | 2594 | 16627 | 604373 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 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 | | 110 | 24537 | 609512 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 130 | 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 | | 110 | 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 | | 130 | 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 | | 32 | 16171 | 610897 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHMP4B CL E G H | 128866 | 605387 | Cataract, posterior polar, 3 | 605387 | C1854311 | OMIM | 1 | | 35 | 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 | | 116 | 1943 | 118423 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHN1 CL E G H | 1123 | 604356 | Duane syndrome type 2 | 604356 | C0751083 | OMIM | 1 | | 117 | 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 | | 316 | 1955 | 100690 |
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 | | 357 | 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 | | 316 | 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 | | 357 | 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 | | 540 | 1956 | 118502 |
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 | | 589 | 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 | | 743 | 1958 | 118504 |
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 | | 816 | 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 | | 340 | 1960 | 118511 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CHRNA7 CL E G H | 1139 | 612001 | 15q13.3 microdeletion syndrome | 612001 | C2677613 | OMIM | 1 | | 346 | 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 | | 284 | 1961 | 100710 |
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 | | 330 | 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 | | 377 | 1962 | 118507 |
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 | | 438 | 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 | | 331 | 1965 | 100720 |
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 | | 373 | 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 | | 599 | 1966 | 100725 |
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 | | 673 | 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 | | 285 | 1971 | 603799 |
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 | | 333 | 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 | | 191 | 14214 | 612082 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 212 | 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 | | 763 | 7067 | 600005 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 883 | 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 | | 41 | 1987 | 602937 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CITED2 CL E G H | 10370 | 614433 | Atrial septal defect 8 | 614433 | C3280790 | OMIM | 1 | | 42 | 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 | | 41 | 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 | | 42 | 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 | | 686 | 2019 | 118425 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN1 CL E G H | 1180 | 160800 | Congenital myotonia, autosomal dominant form | 160800 | C2936781 | OMIM | 1 | | 789 | 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 | | 388 | 2025 | 602727 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPX CL E G H | 10845 | 618015 | PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | 618015 | CN248523 | OMIM | 1 | | 17 | 2088 | 615611 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CLPX CL E G H | 10845 | 618015 | PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | 618015 | CN248523 | OMIM | 1 | | 23 | 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 | | 16 | 13164 | 116955 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 17 | 13164 | 116955 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 613882 | Hypomagnesemia 6, renal | 613882 | C3151295 | OMIM | 1 | | 176 | 103 | 607803 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | CNNM2 CL E G H | 54805 | 613882 | Hypomagnesemia 6, renal | 613882 | C3151295 | OMIM | 1 | | 191 | 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 | | 176 | 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 | | 191 | 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 | | 184 | 2180 | 603196 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COCH CL E G H | 1690 | 601369 | Deafness, autosomal dominant 9 | 601369 | C1832425 | OMIM | 1 | | 198 | 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 | | 213 | 2185 | 120110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL10A1 CL E G H | 1300 | 156500 | Metaphyseal chondrodysplasia, Schmid type | 156500 | C0265289 | OMIM | 1 | | 260 | 2185 | 120110 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 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 | | 1028 | 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 | | 1339 | 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 | | 705 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 601868 | Deafness, autosomal dominant 13 | 601868 | C1866095 | OMIM | 1 | | 974 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 614524 | Fibrochondrogenesis 2 | 614524 | C3281128 | OMIM | 1 | | 705 | 2187 | 120290 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL11A2 CL E G H | 1302 | 614524 | Fibrochondrogenesis 2 | 614524 | C3281128 | OMIM | 1 | | 974 | 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 | | 705 | 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 | | 974 | 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 | | 392 | 2194 | 113811 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 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 | | 1397 | 2197 | 120150 |
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 | | 1655 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 114000 | Infantile cortical hyperostosis | 114000 | C0020497 | OMIM | 1 | | 1397 | 2197 | 120150 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A1 CL E G H | 1277 | 114000 | Infantile cortical hyperostosis | 114000 | C0020497 | OMIM | 1 | | 1655 | 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 | | 1397 | 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 | | 1655 | 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 | | 1397 | 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 | | 1655 | 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 | | 1397 | 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 | | 1655 | 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 | | 1397 | 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 | | 1655 | 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 | | 1042 | 2198 | 120160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1203 | 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 | | 1042 | 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 | | 1203 | 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 | | 1042 | 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 | | 1203 | 2198 | 120160 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 200610 | Achondrogenesis, type II | 200610 | C0220685 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 200610 | Achondrogenesis, type II | 200610 | C0220685 | OMIM | 1 | | 1540 | 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 | | 1213 | 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 | | 1540 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 150600 | Coxa plana | 150600 | C0023234 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 150600 | Coxa plana | 150600 | C0023234 | OMIM | 1 | | 1540 | 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 | | 1213 | 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 | | 1540 | 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 | | 1213 | 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 | | 1540 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 156550 | Kniest dysplasia | 156550 | C0265279 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 156550 | Kniest dysplasia | 156550 | C0265279 | OMIM | 1 | | 1540 | 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 | | 1213 | 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 | | 1540 | 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 | | 1213 | 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 | | 1540 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 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 | | 1213 | 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 | | 1540 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 184250 | Spondylometaphyseal dysplasia | 184250 | C0700635 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 184250 | Spondylometaphyseal dysplasia | 184250 | C0700635 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1540 | 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 | | 1213 | 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 | | 1540 | 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 | | 1213 | 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 | | 1540 | 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 | | 1935 | 2201 | 120180 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL3A1 CL E G H | 1281 | 130050 | Ehlers-Danlos syndrome, type 4 | 130050 | C0268338 | OMIM | 1 | | 2083 | 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 | | 837 | 2202 | 120130 |
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 | | 1010 | 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 | | 837 | 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 | | 1010 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1010 | 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 | | 837 | 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 | | 1010 | 2202 | 120130 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 764 | 2203 | 120090 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A2 CL E G H | 1284 | 614483 | Porencephaly 2 | 614483 | C3280970 | OMIM | 1 | | 857 | 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 | | 1203 | 2204 | 120070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 104200 | Alport syndrome, autosomal dominant | 104200 | C1567743 | OMIM | 1 | | 1362 | 2204 | 120070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 141200 | Benign familial hematuria | 141200 | C0241908 | OMIM | 1 | | 1203 | 2204 | 120070 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A3 CL E G H | 1285 | 141200 | Benign familial hematuria | 141200 | C0241908 | OMIM | 1 | | 1362 | 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 | | 1386 | 2206 | 120131 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL4A4 CL E G H | 1286 | 141200 | Benign familial hematuria | 141200 | C0241908 | OMIM | 1 | | 1532 | 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 | | 2077 | 2209 | 120215 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2246 | 2209 | 120215 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1219 | 2211 | 120220 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1342 | 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 | | 1219 | 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 | | 1342 | 2211 | 120220 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1370 | 2212 | 120240 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1512 | 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 | | 1370 | 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 | | 1512 | 2212 | 120240 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1971 | 2213 | 120250 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 2233 | 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 | | 1971 | 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 | | 2233 | 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 | | 1658 | 2214 | 120120 |
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 | | 2028 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 604129 | Epidermolysis bullosa pruriginosa | 604129 | C1275114 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 604129 | Epidermolysis bullosa pruriginosa | 604129 | C1275114 | OMIM | 1 | | 2028 | 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 | | 1658 | 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 | | 2028 | 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 | | 1658 | 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 | | 2028 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 131850 | Pretibial epidermolysis bullosa | 131850 | C0432321 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL7A1 CL E G H | 1294 | 131850 | Pretibial epidermolysis bullosa | 131850 | C0432321 | OMIM | 1 | | 2028 | 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 | | 1658 | 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 | | 2028 | 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 | | 36 | 2216 | 120252 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL8A2 CL E G H | 1296 | 136800 | Corneal dystrophy, Fuchs endothelial 1 | 136800 | C1850959 | OMIM | 1 | | 39 | 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 | | 36 | 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 | | 39 | 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 | | 594 | 2217 | 120210 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A1 CL E G H | 1297 | 614135 | Multiple epiphyseal dysplasia 6 | 614135 | C2675767 | OMIM | 1 | | 744 | 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 | | 336 | 2218 | 120260 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A2 CL E G H | 1298 | 600204 | Multiple epiphyseal dysplasia 2 | 600204 | C1838429 | OMIM | 1 | | 479 | 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 | | 464 | 2219 | 120270 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COL9A3 CL E G H | 1299 | 600969 | Multiple epiphyseal dysplasia 3 | 600969 | C1832998 | OMIM | 1 | | 703 | 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 | | 287 | 2227 | 600310 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 132400 | Multiple epiphyseal dysplasia 1 | 132400 | C1838280 | OMIM | 1 | | 375 | 2227 | 600310 |
HP:0000006 | HP:0000006 | Autosomal dominant inheritance | 0 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | |