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:0001425 | HP:0001425 | Heterogeneous | 0 | ABCA3 CL E G H | 21 | 610921 | Surfactant metabolism dysfunction, pulmonary, 3 | 610921 | C1970456 | OMIM | 1 | 289 | 207 | 33 | 601615 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | 244 | 280 | 45 | 171060 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ABCC8 CL E G H | 6833 | 256450 | Persistent hyperinsulinemic hypoglycemia of infancy | 256450 | C2931832 | OMIM | 1 | 661 | 418 | 59 | 600509 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 217 | 198 | 129 | 102610 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | 217 | 198 | 129 | 102610 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | 432 | 329 | 175 | 601284 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ADAMTS13 CL E G H | 11093 | 274150 | Upshaw-Schulman syndrome | 274150 | C1268935 | OMIM | 1 | 198 | 182 | 1366 | 604134 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ADGRV1 CL E G H | 84059 | 604352 | Febrile seizures, familial, 4 | 604352 | C1858493 | OMIM | 1 | 249 | 901 | 17416 | 602851 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | 43 | 145 | 325 | 603100 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | 96 | 272 | 21575 | 608894 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AKT1 CL E G H | 207 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 12 | 187 | 391 | 164730 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ANK2 CL E G H | 287 | 600919 | Cardiac arrhythmia, ankyrin B-related | 600919 | C1970119 | OMIM | 1 | 75 | 933 | 493 | 106410 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | APC CL E G H | 324 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 1951 | 5972 | 583 | 611731 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 82 | 20492 | 616003 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | 107 | 161 | 620 | 104760 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | 66 | 102 | 634 | 107777 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | 85 | 164 | 11231 | 606439 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | 99 | 413 | 800 | 182340 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | 286 | 302 | 897 | 300538 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | AXIN1 CL E G H | 8312 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 18 | 61 | 903 | 603816 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | 37 | 140 | 1020 | 603647 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | 68 | 409 | 1097 | 164757 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BRCA1 CL E G H | 672 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 2824 | 7686 | 1100 | 113705 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BRCA2 CL E G H | 675 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 3025 | 10826 | 1101 | 600185 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | 50 | 191 | 15832 | 606158 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | 24 | 81 | 16512 | 606412 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CACNA1A CL E G H | 773 | 141500 | Familial hemiplegic migraine type 1 | 141500 | C1832884 | OMIM | 1 | 251 | 1038 | 1388 | 601011 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | 185 | 242 | 1393 | 300110 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CASP8 CL E G H | 841 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 12 | 80 | 1509 | 601763 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CAV3 CL E G H | 859 | 606072 | Rippling muscle disease | 606072 | C1853698 | OMIM | 1 | 50 | 237 | 1529 | 601253 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | 96 | 451 | 29253 | 612013 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CCM2 CL E G H | 83605 | 603284 | Cerebral cavernous malformations 2 | 603284 | C1864041 | OMIM | 1 | 88 | 121 | 21708 | 607929 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CENPJ CL E G H | 55835 | 608393 | Primary autosomal recessive microcephaly 6 | 608393 | C1842109 | OMIM | 1 | 10 | 233 | 17272 | 609279 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CFTR CL E G H | 1080 | 277180 | Congenital bilateral absence of the vas deferens | 277180 | C0403814 | OMIM | 1 | 1828 | 1823 | 1884 | 602421 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | 77 | 246 | 1912 | 118490 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CHRNA2 CL E G H | 1135 | 610353 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 | C1835905 | OMIM | 1 | 13 | 352 | 1956 | 118502 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | 100 | 159 | 2025 | 602727 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | 6 | 84 | 2026 | 602024 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | 152 | 125 | 2027 | 602023 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 7 | 14 | 25716 | 615623 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL17A1 CL E G H | 1308 | 226650 | Adult junctional epidermolysis bullosa | 226650 | C0268374 | OMIM | 1 | 114 | 164 | 2194 | 113811 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL4A3 CL E G H | 1285 | 203780 | Alport syndrome, autosomal recessive | 203780 | C1567744 | OMIM | 1 | 272 | 386 | 2204 | 120070 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL4A4 CL E G H | 1286 | 203780 | Alport syndrome, autosomal recessive | 203780 | C1567744 | OMIM | 1 | 233 | 452 | 2206 | 120131 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL4A5 CL E G H | 1287 | 301050 | Alport syndrome, X-linked recessive | 301050 | C1567742 | OMIM | 1 | 1000 | 1144 | 2207 | 303630 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL9A2 CL E G H | 1298 | 600204 | Multiple epiphyseal dysplasia 2 | 600204 | C1838429 | OMIM | 1 | 13 | 175 | 2218 | 120260 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COL9A3 CL E G H | 1299 | 600969 | Multiple epiphyseal dysplasia 3 | 600969 | C1832998 | OMIM | 1 | 17 | 205 | 2219 | 120270 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COMP CL E G H | 1311 | 132400 | Multiple epiphyseal dysplasia 1 | 132400 | C1838280 | OMIM | 1 | 188 | 118 | 2227 | 600310 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 13 | 175 | 2260 | 602125 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | 13 | 175 | 2260 | 602125 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 1 | 14 | 28216 | 614478 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | 5 | 136 | 2263 | 603646 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 1 | 119 | 26970 | 614698 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 3 | 29 | 2280 | 124089 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 1 | 10 | 2294 | 123870 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | 364 | 515 | 2348 | 600140 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CRELD1 CL E G H | 78987 | 606217 | Atrioventricular septal defect 2 | 606217 | C1853508 | OMIM | 1 | 16 | 77 | 14630 | 607170 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CTNNB1 CL E G H | 1499 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 54 | 133 | 2514 | 116806 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CTSC CL E G H | 1075 | 170650 | Periodontitis, aggressive, 1 | 170650 | C0031106 | OMIM | 1 | 96 | 98 | 2528 | 602365 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | CYP1B1 CL E G H | 1545 | 231300 | Glaucoma 3, primary congenital, A | 231300 | C1856439 | OMIM | 1 | 243 | 139 | 2597 | 601771 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DHH CL E G H | 50846 | 233420 | 46,XY sex reversal, type 7 | 233420 | C1856273 | OMIM | 1 | 18 | 38 | 2865 | 605423 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DISC2 CL E G H | 27184 | 181500 | Schizophrenia | 181500 | C0036341 | OMIM | 1 | | 27 | 2889 | 606271 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | 38 | 195 | 2954 | 604366 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | 52 | 349 | 2974 | 602378 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DSG2 CL E G H | 1829 | 610193 | Arrhythmogenic right ventricular cardiomyopathy, type 10 | 610193 | C1857777 | OMIM | 1 | 132 | 571 | 3049 | 125671 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DSP CL E G H | 1832 | 607450 | Arrhythmogenic right ventricular cardiomyopathy, type 8 | 607450 | C1843896 | OMIM | 1 | 309 | 1325 | 3052 | 125647 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | DYSF CL E G H | 8291 | 254130 | Miyoshi muscular dystrophy 1 | 254130 | C1850808 | OMIM | 1 | 537 | 1207 | 3097 | 603009 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDA CL E G H | 1896 | 305100 | Hypohidrotic X-linked ectodermal dysplasia | 305100 | C0162359 | OMIM | 1 | 330 | 307 | 3157 | 300451 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDAR CL E G H | 10913 | 129490 | Autosomal dominant hypohidrotic ectodermal dysplasia | 129490 | C1720965 | OMIM | 1 | 62 | 157 | 2895 | 604095 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDAR CL E G H | 10913 | 224900 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 224900 | C0406702 | OMIM | 1 | 62 | 157 | 2895 | 604095 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDARADD CL E G H | 128178 | 129490 | Autosomal dominant hypohidrotic ectodermal dysplasia | 129490 | C1720965 | OMIM | 1 | 10 | 119 | 14341 | 606603 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDARADD CL E G H | 128178 | 224900 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 224900 | C0406702 | OMIM | 1 | 10 | 119 | 14341 | 606603 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDN3 CL E G H | 1908 | 613265 | Waardenburg syndrome type 4B | 613265 | C2750457 | OMIM | 1 | 21 | 91 | 3178 | 131242 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | 70 | 140 | 3180 | 131244 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EGR2 CL E G H | 1959 | 607678 | Charcot-Marie-Tooth disease, demyelinating, type 1d | 607678 | C1843247 | OMIM | 1 | 24 | 131 | 3239 | 129010 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | 24 | 131 | 3239 | 129010 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ELN CL E G H | 2006 | 123700 | Cutis laxa, autosomal dominant 1 | 123700 | C3276539 | OMIM | 1 | 127 | 432 | 3327 | 130160 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ENAM CL E G H | 10117 | 204650 | Amelogenesis imperfecta, type IC | 204650 | C2673923 | OMIM | 1 | 19 | 71 | 3344 | 606585 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | 497 | 458 | 3349 | 131195 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | 107 | 350 | 3373 | 602700 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | 82 | 157 | 3413 | 607566 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ERCC6 CL E G H | 2074 | 600630 | UV-sensitive syndrome | 600630 | C1833561 | OMIM | 1 | 140 | 348 | 3438 | 609413 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | 70 | 136 | 3439 | 609412 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ESR1 CL E G H | 2099 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 38 | 74 | 3467 | 133430 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | EYA1 CL E G H | 2138 | 113650 | Melnick-Fraser syndrome | 113650 | C0265234 | OMIM | 1 | 221 | 223 | 3519 | 601653 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 3 | 159 | 29160 | 612322 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FBLN5 CL E G H | 10516 | 219100 | Autosomal recessive cutis laxa type IA | 219100 | CN033664 | OMIM | 1 | 23 | 118 | 3602 | 604580 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | 30 | 291 | 19125 | 611104 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | 10 | 132 | 3671 | 601515 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | 265 | 273 | 3688 | 136350 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | 141 | 314 | 17997 | 606596 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | 59 | 359 | 3622 | 607440 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FOXC1 CL E G H | 2296 | 602482 | Axenfeld-Rieger syndrome type 3 | 602482 | C2678503 | OMIM | 1 | 139 | 165 | 3800 | 601090 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | FRMD7 CL E G H | 90167 | 310700 | Infantile nystagmus, X-linked | 310700 | C1839580 | OMIM | 1 | 95 | 208 | 8079 | 300628 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | 7 | 70 | 4092 | 605363 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | 252 | 156 | 4193 | 600225 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | 848 | 374 | 4195 | 138079 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GDAP1 CL E G H | 54332 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | 103 | 253 | 15968 | 606598 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GDAP1 CL E G H | 54332 | 214400 | Charcot-Marie-Tooth disease, type 4A | 214400 | C1859198 | OMIM | 1 | 103 | 253 | 15968 | 606598 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GDF6 CL E G H | 392255 | 118100 | Klippel-Feil syndrome 1, autosomal dominant | 118100 | C1861689 | OMIM | 1 | 21 | 96 | 4221 | 601147 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GLUD1 CL E G H | 2746 | 606762 | Hyperinsulinism-hyperammonemia syndrome | 606762 | C1847555 | OMIM | 1 | 38 | 103 | 4335 | 138130 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GPC3 CL E G H | 2719 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 98 | 382 | 4451 | 300037 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | GPC4 CL E G H | 2239 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 5 | 182 | 4452 | 300168 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | H19 CL E G H | 283120 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 38 | 44 | 4713 | 103280 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | HADH CL E G H | 3033 | 609975 | Hyperinsulinemic hypoglycemia, familial, 4 | 609975 | C1864948 | OMIM | 1 | 26 | 58 | 4799 | 601609 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | HCRT CL E G H | 3060 | 161400 | Narcolepsy 1 | 161400 | C1834372 | OMIM | 1 | 2 | 9 | 4847 | 602358 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | HPS1 CL E G H | 3257 | 203300 | Hermansky-Pudlak syndrome 1 | 203300 | C2931875 | OMIM | 1 | 55 | 149 | 5163 | 604982 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | 48 | 150 | 5246 | 602195 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | 10 | 85 | 30171 | 608014 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | IGF2 CL E G H | 3481 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 11 | 43 | 5466 | 147470 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | IGF2R CL E G H | 3482 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 6 | 27 | 5467 | 147280 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | IHH CL E G H | 3549 | 112500 | Type A1 brachydactyly | 112500 | C1862151 | OMIM | 1 | 33 | 70 | 5956 | 600726 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | 54 | 200 | 21474 | 613037 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | INSR CL E G H | 3643 | 609968 | Hyperinsulinemic hypoglycemia familial 5 | 609968 | C1864952 | OMIM | 1 | 196 | 274 | 6091 | 147670 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | IQCB1 CL E G H | 9657 | 609254 | Senior-Loken syndrome 5 | 609254 | C1836517 | OMIM | 1 | 43 | 91 | 28949 | 609237 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ITGB4 CL E G H | 3691 | 226650 | Adult junctional epidermolysis bullosa | 226650 | C0268374 | OMIM | 1 | 99 | 164 | 6158 | 147557 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | JPH1 CL E G H | 56704 | 607831 | Charcot-Marie-Tooth disease type 2K | 607831 | C1842983 | OMIM | 1 | 1 | 29 | 14201 | 605266 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | JUP CL E G H | 3728 | 611528 | Arrhythmogenic right ventricular cardiomyopathy, type 12 | 611528 | C1969081 | OMIM | 1 | 48 | 367 | 6207 | 173325 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNE1 CL E G H | 3753 | 612347 | Jervell and Lange-Nielsen syndrome 2 | 612347 | C2676723 | OMIM | 1 | 49 | 252 | 6240 | 176261 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNE1 CL E G H | 3753 | 613695 | Long QT syndrome 5 | 613695 | C1867904 | OMIM | 1 | 49 | 252 | 6240 | 176261 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNE2 CL E G H | 9992 | 613693 | Long QT syndrome 6 | 613693 | C3150953 | OMIM | 1 | 25 | 125 | 6242 | 603796 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNH2 CL E G H | 3757 | 613688 | Long QT syndrome 2 | 613688 | C3150943 | OMIM | 1 | 947 | 1316 | 6251 | 152427 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNJ1 CL E G H | 3758 | 241200 | Bartter syndrome, type 2, antenatal | 241200 | C1855849 | OMIM | 1 | 70 | 134 | 6255 | 600359 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNJ11 CL E G H | 3767 | 601820 | Islet cell hyperplasia | 601820 | C0027773 | OMIM | 1 | 187 | 189 | 6257 | 600937 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNQ1 CL E G H | 3784 | 607554 | Atrial fibrillation, familial, 3 | 607554 | C1837014 | OMIM | 1 | 643 | 971 | 6294 | 607542 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNQ1 CL E G H | 3784 | 220400 | Jervell and Lange-Nielsen syndrome 1 | 220400 | CN034131 | OMIM | 1 | 643 | 971 | 6294 | 607542 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNQ1 CL E G H | 3784 | 192500 | Long QT syndrome 1 | 192500 | C0035828 | OMIM | 1 | 643 | 971 | 6294 | 607542 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KCNQ2 CL E G H | 3785 | 121200 | Benign familial neonatal seizures 1 | 121200 | C1852587 | OMIM | 1 | 314 | 812 | 6296 | 602235 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | 13 | 303 | 16636 | 605995 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KIF7 CL E G H | 374654 | 200990 | Acrocallosal syndrome, Schinzel type | 200990 | C0796147 | OMIM | 1 | 45 | 281 | 30497 | 611254 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRAS CL E G H | 3845 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 45 | 262 | 6407 | 190070 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | 274 | 258 | 1573 | 604214 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRT16 CL E G H | 3868 | 167200 | Pachyonychia congenita 1 | 167200 | C1706595 | OMIM | 1 | 31 | 36 | 6423 | 148067 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRT17 CL E G H | 3872 | 167210 | Pachyonychia congenita 2 | 167210 | C1721007 | OMIM | 1 | 29 | 32 | 6427 | 148069 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRT81 CL E G H | 3887 | 158000 | Beaded hair | 158000 | C0546966 | OMIM | 1 | 5 | 14 | 6458 | 602153 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRT83 CL E G H | 3889 | 158000 | Beaded hair | 158000 | C0546966 | OMIM | 1 | 4 | 79 | 6460 | 602765 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | KRT86 CL E G H | 3892 | 158000 | Beaded hair | 158000 | C0546966 | OMIM | 1 | 12 | 26 | 6463 | 601928 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LAMA3 CL E G H | 3909 | 226650 | Adult junctional epidermolysis bullosa | 226650 | C0268374 | OMIM | 1 | 55 | 280 | 6483 | 600805 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LAMB3 CL E G H | 3914 | 226650 | Adult junctional epidermolysis bullosa | 226650 | C0268374 | OMIM | 1 | 121 | 236 | 6490 | 150310 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LAMC2 CL E G H | 3918 | 226650 | Adult junctional epidermolysis bullosa | 226650 | C0268374 | OMIM | 1 | 41 | 200 | 6493 | 150292 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | 28 | 296 | 6511 | 603590 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | 19 | 146 | 16841 | 603795 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | 574 | 918 | 6636 | 150330 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LMNA CL E G H | 4000 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | 574 | 918 | 6636 | 150330 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | 574 | 918 | 6636 | 150330 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | LRP5 CL E G H | 4041 | 607634 | Osteopetrosis autosomal dominant type 1 | 607634 | C1843330 | OMIM | 1 | 221 | 189 | 6697 | 603506 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | 23 | 203 | 6840 | 176872 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | 120 | 283 | 6893 | 157140 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | 120 | 283 | 6893 | 157140 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MATN3 CL E G H | 4148 | 607078 | Multiple epiphyseal dysplasia 5 | 607078 | C1846843 | OMIM | 1 | 28 | 62 | 6909 | 602109 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | 26 | 188 | 15455 | 300294 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MCCC1 CL E G H | 56922 | 210200 | 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 210200 | CN028786 | OMIM | 1 | 108 | 202 | 6936 | 609010 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MCCC2 CL E G H | 64087 | 210210 | 3-methylcrotonyl CoA carboxylase 2 deficiency | 210210 | C1859499 | OMIM | 1 | 117 | 155 | 6937 | 609014 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MET CL E G H | 4233 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 39 | 814 | 7029 | 164860 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MID1 CL E G H | 4281 | 300000 | Opitz-Frias syndrome | 300000 | C0175696 | OMIM | 1 | 98 | 261 | 7095 | 300552 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MITF CL E G H | 4286 | 193510 | Waardenburg syndrome type 2A | 193510 | C1860339 | OMIM | 1 | 61 | 171 | 7105 | 156845 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MLPH CL E G H | 79083 | 609227 | Griscelli syndrome type 3 | 609227 | C1836573 | OMIM | 1 | 9 | 80 | 29643 | 606526 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | 246 | 354 | 7225 | 159440 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | 246 | 354 | 7225 | 159440 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | 1 | 80 | 14048 | 609204 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | 26 | 71 | 7392 | 123101 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | 24 | 212 | 7450 | 603557 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 1002 | 1839 | 7577 | 160760 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | 527 | 848 | 7606 | 276903 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | 321 | 2011 | 7720 | 161650 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | 44 | 272 | 7739 | 162280 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | 71 | 135 | 21576 | 608072 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NLGN4X CL E G H | 57502 | 300495 | Autism, susceptibility to, X-linked 2 | 300495 | C1845539 | OMIM | 1 | 36 | 287 | 14287 | 300427 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | 1 | 12 | 7849 | 156490 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | 478 | 542 | 7897 | 607623 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | 27 | 67 | 14537 | 601015 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | 79 | 328 | 7905 | 607100 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NPHP1 CL E G H | 4867 | 266900 | Senior-Loken syndrome 1 | 266900 | C0403553 | OMIM | 1 | 79 | 328 | 7905 | 607100 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NPHP4 CL E G H | 261734 | 606996 | Senior-Loken syndrome 4 | 606996 | C1846979 | OMIM | 1 | 118 | 500 | 19104 | 607215 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | NSDHL CL E G H | 50814 | 308050 | Child syndrome | 308050 | C0265267 | OMIM | 1 | 31 | 230 | 13398 | 300275 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ORC1 CL E G H | 4998 | 224690 | Meier-Gorlin syndrome 1 | 224690 | CN030358 | OMIM | 1 | 12 | 65 | 8487 | 601902 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PDGFRL CL E G H | 5157 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 1 | 77 | 8805 | 604584 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 2 | 25 | 40038 | 614770 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | 140 | 339 | 8850 | 602136 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PIK3CA CL E G H | 5290 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 57 | 288 | 8975 | 171834 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PIK3CA CL E G H | 5290 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 57 | 288 | 8975 | 171834 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PITX2 CL E G H | 5308 | 180500 | Axenfeld-Rieger syndrome type 1 | 180500 | C3714873 | OMIM | 1 | 104 | 80 | 9005 | 601542 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | 165 | 277 | 9118 | 601097 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | 165 | 277 | 9118 | 601097 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | 300 | 1015 | 9179 | 174763 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | 89 | 364 | 19139 | 606822 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | 96 | 411 | 9202 | 607423 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | 75 | 392 | 19743 | 607439 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | 75 | 392 | 19743 | 607439 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PPM1D CL E G H | 8493 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 63 | 60 | 9277 | 605100 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PRKAG2 CL E G H | 51422 | 600858 | Familial hypertrophic cardiomyopathy 6 | 600858 | C1833236 | OMIM | 1 | 61 | 433 | 9386 | 602743 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PRKAR1A CL E G H | 5573 | 160980 | Carney complex, type 1 | 160980 | C2607929 | OMIM | 1 | 188 | 294 | 9388 | 188830 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | 62 | 425 | 13797 | 605725 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | 320 | 291 | 9508 | 104311 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | 529 | 1380 | 9585 | 601309 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | 11 | 160 | 9586 | 603673 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | 143 | 380 | 9644 | 176876 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RB1CC1 CL E G H | 9821 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 4 | 63 | 15574 | 606837 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RP1 CL E G H | 6101 | 180100 | Retinitis pigmentosa 1 | 180100 | C0220701 | OMIM | 1 | 190 | 187 | 10263 | 603937 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | 51 | 255 | 29168 | 610937 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | 51 | 255 | 29168 | 610937 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RPGRIP1L CL E G H | 23322 | 611561 | Meckel syndrome type 5 | 611561 | C1969052 | OMIM | 1 | 51 | 255 | 29168 | 610937 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 688 | 2382 | 10483 | 180901 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SAMD12 CL E G H | 401474 | 601068 | Epilepsy, familial adult myoclonic, 1 | 601068 | C1832841 | OMIM | 1 | 1 | 44 | 31750 | 618073 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | 29 | 454 | 2135 | 607697 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SCN5A CL E G H | 6331 | 603830 | Long QT syndrome 3 | 603830 | C1859062 | OMIM | 1 | 914 | 1624 | 10593 | 600163 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SCN5A CL E G H | 6331 | 113900 | Progressive familial heart block type 1A | 113900 | C1879286 | OMIM | 1 | 914 | 1624 | 10593 | 600163 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 5 | 75 | 10603 | 603644 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | 91 | 895 | 10680 | 600857 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 63 | 242 | 15999 | 606210 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SFTPB CL E G H | 6439 | 265120 | Surfactant metabolism dysfunction, pulmonary, 1 | 265120 | C1968602 | OMIM | 1 | 31 | 70 | 10801 | 178640 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SFTPC CL E G H | 6440 | 610913 | Surfactant metabolism dysfunction, pulmonary, 2 | 610913 | C1970470 | OMIM | 1 | 87 | 123 | 10802 | 178620 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | 102 | 731 | 29427 | 608206 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SIX1 CL E G H | 6495 | 113650 | Melnick-Fraser syndrome | 113650 | C0265234 | OMIM | 1 | 20 | 76 | 10887 | 601205 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SIX3 CL E G H | 6496 | 157170 | Holoprosencephaly 2 | 157170 | C1834877 | OMIM | 1 | 91 | 73 | 10889 | 603714 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SLC12A1 CL E G H | 6557 | 601678 | Bartter syndrome, type 1, antenatal | 601678 | C1866495 | OMIM | 1 | 90 | 108 | 10910 | 600839 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SLC16A1 CL E G H | 6566 | 610021 | Exercise-induced hyperinsulinemic hypoglycemia | 610021 | C1864902 | OMIM | 1 | 14 | 95 | 10922 | 600682 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SLC22A18 CL E G H | 5002 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 1 | 25 | 10964 | 602631 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SLC25A38 CL E G H | 54977 | 205950 | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | 205950 | C2673914 | OMIM | 1 | 29 | 66 | 26054 | 610819 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | 17 | 189 | 10990 | 103220 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SNAI2 CL E G H | 6591 | 608890 | Waardenburg syndrome type 2D | 608890 | C1837203 | OMIM | 1 | 4 | 49 | 11094 | 602150 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SNRPN CL E G H | 6638 | 209850 | Autistic disorder of childhood onset | 209850 | C0004352 | OMIM | 1 | 25 | 364 | 11164 | 182279 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | 217 | 127 | 11179 | 147450 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | 151 | 139 | 11190 | 602229 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | 151 | 139 | 11190 | 602229 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SPTA1 CL E G H | 6708 | 130600 | Elliptocytosis 2 | 130600 | C1851741 | OMIM | 1 | 59 | 257 | 11272 | 182860 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | 47 | 314 | 16466 | 607035 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | 128 | 155 | 11474 | 185620 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | 3 | 43 | 24316 | 612958 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | 137 | 175 | 11647 | 604592 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TGFB3 CL E G H | 7043 | 107970 | Arrhythmogenic right ventricular dysplasia, familial 1 | 107970 | C1862511 | OMIM | 1 | 34 | 224 | 11769 | 190230 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 1 | 79 | 393 | 11772 | 190181 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 1 | 148 | 381 | 11773 | 190182 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | 8 | 82 | 25018 | 613277 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | 174 | 261 | 28396 | 609884 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | 174 | 261 | 28396 | 609884 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TNNI3 CL E G H | 7137 | 613690 | Familial hypertrophic cardiomyopathy 7 | 613690 | C1860752 | OMIM | 1 | 131 | 312 | 11947 | 191044 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TP53 CL E G H | 7157 | 114480 | Familial cancer of breast | 114480 | C0346153 | OMIM | 1 | 541 | 1656 | 11998 | 191170 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TP53 CL E G H | 7157 | 114550 | Hepatocellular carcinoma | 114550 | C2239176 | OMIM | 1 | 541 | 1656 | 11998 | 191170 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 40 | 163 | 12011 | 190990 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TPM2 CL E G H | 7169 | 108120 | Distal arthrogryposis type 1A | 108120 | C0220662 | OMIM | 1 | 40 | 163 | 12011 | 190990 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TPM2 CL E G H | 7169 | 609285 | Nemaline myopathy 4 | 609285 | C1836447 | OMIM | 1 | 40 | 163 | 12011 | 190990 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | 28 | 144 | 12012 | 191030 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TPM3 CL E G H | 7170 | 609284 | Nemaline myopathy 1 | 609284 | C1836448 | OMIM | 1 | 28 | 144 | 12012 | 191030 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | 404 | 1766 | 12362 | 605284 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | 1269 | 4327 | 12363 | 191092 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | 51 | 336 | 12597 | 605242 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | VSX1 CL E G H | 30813 | 148300 | Keratoconus 1 | 148300 | C1835677 | OMIM | 1 | 24 | 73 | 12723 | 605020 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | 2 | 29 | 12782 | 165330 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | WT1 CL E G H | 7490 | 194070 | Wilms tumor 1 | 194070 | CN033288 | OMIM | 1 | 184 | 412 | 12796 | 607102 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | YARS CL E G H | 8565 | 608323 | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | C1842237 | OMIM | 1 | 14 | | 12840 | 603623 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ZMPSTE24 CL E G H | 10269 | 275210 | Lethal tight skin contracture syndrome | 275210 | C0406585 | OMIM | 1 | 34 | 100 | 12877 | 606480 |
HP:0001425 | HP:0001425 | Heterogeneous | 0 | ZMPSTE24 CL E G H | 10269 | 608612 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 | C1837756 | OMIM | 1 | 34 | 100 | 12877 | 606480 |
HPO disease - gene - phenotype less frequent non-typical associations: |