ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 Biomarker disease GENOMICS_ENGLAND Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. 28555414 2017
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 GeneticVariation disease UNIPROT Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 Biomarker disease GENOMICS_ENGLAND Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 25807284 2015
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 CausalMutation disease CLINVAR
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5
0.700 Biomarker disease CTD_human