Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		0.700 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		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
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		0.700 GeneticVariation disease UNIPROT Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		0.700 Biomarker disease GENOMICS_ENGLAND Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 25807284 2015
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2120
Gene Symbol: ETV6
ETV6 		0.700 Biomarker disease CTD_human