Disease Term Disease ID Gene Symbol Classification References Source
THROMBOCYTOPENIA 2 (disorder) C1861185 ANKRD26 Causal Pathogenic evidence from ClinVar 10521306, 20626622, 21211618, 21467542, 23677566, 24030261, 24430186, 25902755, 26175287, 27881370, 28109976, 30747248 ClinVar
Thrombocytopenia 4 C2677608 CYCS Causal Pathogenic evidence from ClinVar 18345000, 24326104, 30051457 ClinVar
THROMBOCYTOPENIA 5 C4015537 ETV6 Causal Pathogenic evidence from ClinVar 25581430, 25807284, 28297620, 28555414 ClinVar
Thrombocytopenia 3 C2678311 FYB1 Causal Pathogenic evidence from ClinVar 25876182 ClinVar
Other primary thrombocytopenia C0477317 MYH9 Causal Pathogenic evidence from ClinVar 9390828, 15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834 ClinVar
THROMBOCYTOPENIA 6 C4310789 SRC Causal Pathogenic evidence from ClinVar 26936507 ClinVar
THROMBOCYTOPENIA 1 (disorder) C1839163 WAS Causal Pathogenic evidence from ClinVar 7579347, 7795648, 8528198, 8528199, 8595430, 8682510, 8931701, 9326235, 10202051, 10447259, 10575547, 11167787, 11442475, 11793485, 11877312, 12591280, 12969986, 14612666, 15284122, 16562789, 16804117, 17213309, 17400488, 19817875, 20173115, 20959042, 21185603, 22426750, 22523910, 22679904, 23033889, 23160469, 25332606, 25476427, 25792466, 25931402, 26261240, 27264129, 28623282, 28931895 ClinVar