ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.300 GermlineCausalMutation disease ORPHANET Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. 27365488 2016