Disease Term Disease ID Gene Symbol Classification References Source
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA C3550789 GATA1 Causal Pathogenic evidence from ClinVar 10700180, 11418466, 11675338, 11809723, 16103636, 16783379, 17148589, 22706301, 23704091, 24453067, 30228860 ClinVar