Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy. 31248877 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE ETV6-ABL1 fusion is a rare but recurrent genetic aberration found in various hematologic malignancies involving both the lymphoid and myeloid lineage, but to the best of our knowledge, CMML is an exceptionally rare presentation of ETV6-ABL1 rearranged neoplasm. 31425923 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Genetic alterations in the transcriptional repressor ETV6 are associated with hematological malignancies. 30341373 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. 29076873 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Recently, autosomal dominant germline ETV6 mutations were discovered in families with inherited thrombocytopenia and a propensity to develop hematological malignancy, unequivocally demonstrating a role for ETV6 in leukemogenesis. 28637624 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Leukemias harboring the ETV6-ABL1 fusion represent a rare subset of hematological malignancies with unfavorable outcomes. 28650474 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. 27663637 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Germline ETV6 mutations and predisposition to hematological malignancies. 28555414 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE To characterize the incidence, clinical features and genetics of ETV6-ABL1 leukemias, representing targetable kinase-activating lesions, we analyzed 44 new and published cases of ETV6-ABL1-positive hematologic malignancies [22 cases of acute lymphoblastic leukemia (13 children, 9 adults) and 22 myeloid malignancies (18 myeloproliferative neoplasms, 4 acute myeloid leukemias)]. 27229714 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. 27365488 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Many fusion partners of ETV6 have been reported in a variety of epithelial and hematological malignancies. 26492182 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 CausalMutation group CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group CTD_human Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE The ETV6 gene encodes an ETS family transcription factor that is involved in a myriad of chromosomal rearrangements found in hematological malignancies and other neoplasms. 26584717 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE ETV6 fusion genes in hematological malignancies: a review. 22578774 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE ETV6 is an important hematopoietic regulatory factor and ETV6 gene rearrangement is involved in a wide variety of hematological malignancies. 22373549 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Alterations of the short arm of chromosome 12 (12p) occur in various hematologic malignancies and ETV6 and CDKN1B, which are located on 12p, have been implicated as leukemogenic genes of interest. 21422114 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE This case reiterates the importance of correlating morphologic and phenotypic findings with the results of cytogenetic analysis to avoid errors in diagnosing hematologic neoplasms and highlights the rare association of B-cell non-Hodgkin lymphoma with aberrations of TEL. 18992913 2009
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE The ETV6 gene has been reported to be fused to a multitude of partner genes in various hematologic malignancies with 12p13 aberrations. 18281529 2008
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Fusion of ETV6 (ETS translocation variant 6, previously known as TEL) to ABL1 due to t(9;12) has been observed in various hematological malignancies. 18656692 2008
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE The ETV6 gene on 12p13 is involved in different hematologic malignancies through a variety of chromosomal translocations. 16757412 2006
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE HDAC9 interacts and co-localizes in vivo with a number of transcriptional repressors and co-repressors, including TEL and N-CoR, whose functions have been implicated in the pathogenesis of hematological malignancies. 12590135 2003
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE ETS variant gene 6 (ETV6)/translocation, ETS, leukemia (TEL)-involving chromosomal translocations are frequently observed in various hematologic neoplasms. 12764377 2003