Hemophilia

Disease Term Disease ID Gene Symbol Classification References Source
Hemophilia A C0019069 F9 Causal Pathogenic evidence from ClinVar 16051741, 31064749 ClinVar
F8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301194, 1301932, 1301960, 1349567, 1356412, 1639429, 1851341, 1908096, 1908817, 1924291, 1973901, 2104766, 2105106, 2105906, 2106480, 2107542, 2495245, 2498882, 2499363, 2506948, 2510835, 2833855, 2835904, 2987704, 3012775, 3035554, 3122181, 3286010, 7579394, 7647782, 7759074, 7794769, 8281136, 8322269, 8449505, 8639447, 8644728, 8759905, 9029040, 9326186, 9341862, 9450898, 9452104, 9569180, 9569189, 9603440, 9792405, 9829908, 9886318, 10215414, 10338101, 10404764, 10408784, 10554831, 10612839, 10691849, 10800171, 10886198, 10896236, 10910910, 10910913, 11298607, 11341489, 11410838, 11442643, 11442647, 11554935, 11748850, 11857744, 11858487, 11918545, 12195713, 12199686, 12203998, 12325022, 12351418, 12406074, 12614369, 12847523, 12871415, 12930394, 15682412, 15810915, 16051741, 16805874, 18184865, 18217193, 21371196, 24108539, 25550078, 26278069, 28252515, 30210749 -
Hemophilia B C0008533 F9 Causal Pathogenic evidence from ClinVar 1346975, 1615485, 1864609, 1902289, 1958666, 1969838, 2066105, 2162822, 2198809, 2339358, 2372509, 2388855, 2472424, 2592373, 2713493, 2714791, 2738071, 2753873, 2773937, 2775660, 3009023, 3243764, 3286010, 3401602, 3416069, 3790720, 6603618, 7062952, 7981722, 8076946, 8199596, 8257988, 8295821, 8680410, 9169594, 9222764, 9452115, 9590153, 9600455, 9639513, 10094553, 10698280, 11122099, 12588353, 12604421, 15921378, 16643212, 18624698, 19699296, 22544209, 22639855, 23093250, 25251685, 25330515, 25470321, 26612714, 26964564, 27824213, 28752769, 29993188, 30210749 ClinVar
F8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31064749 -
Hemophilia, NOS C0684275 ZAP70 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -