Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE Further research into the role of JAK2 translocations in the pathogenesis and outcomes of hematologic malignancies is warranted. 31063994

2019

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Activating mutations in JAK2 have been described in patients with various hematologic malignancies including acute myeloid leukemia (AML) and myeloproliferative neoplasms. 31299252

2019

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Genetic alterations in the transcriptional repressor ETV6 are associated with hematological malignancies. 30341373

2018

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. 29076873

2018

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 AlteredExpression BEFREE Among these genetic variations, Philadelphia-negative gain-of-function mutation in the janus kinase 2 (JAK2) protein leads to overexpression of the genes involved in cell growth and proliferation, and has been linked to development of hematological malignancies, specifically, myeloproliferative neoplasms (MPNs; essential thrombocythemia [ET], polycythemia vera [PV], and primary myelofibrosis). 30056970

2018

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation 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

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Leukemias harboring the ETV6-ABL1 fusion represent a rare subset of hematological malignancies with unfavorable outcomes. 28650474

2017

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE JAK-2 dysregulation plays an important role as an oncogenic driver, and is thus a promising therapeutic target in hematological malignancies. 29262601

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Myeloproliferative neoplasm (MPN) is a hematologic malignancy characterized by the clonal outgrowth of hematopoietic cells with a somatically acquired mutation most commonly in JAK2 (JAK2<sup>V617F</sup>). 28501635

2017

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Germline ETV6 mutations and predisposition to hematological malignancies. 28555414

2017

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE To assess the robustness of our clinical NGS pipeline, we analyzed the results of 304 solid tumor and hematologic malignancy specimens tested simultaneously by NGS and one or more targeted single-gene tests (EGFR, KRAS, BRAF, NPM1, FLT3, and JAK2). 27043212

2016

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker 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

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE Many fusion partners of ETV6 have been reported in a variety of epithelial and hematological malignancies. 26492182

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE Given the distinct clinical and pathological characteristics, we believe that hematological neoplasms harboring BCR-JAK2 should be included as an additional distinct entity to the current WHO category of "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR", and testing for a JAK2 fusion should be pursued in neoplasms with a karyotypic 9p24 abnormality. 27134074

2016

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE The human JAK2 gene is mainly targeted by two types of genetic lesions that play roles in the pathogenesis of hematologic malignancies: intragenic mutations and chromosomal translocations. 25833723

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 AlteredExpression BEFREE Decreased PLK4 protein expression due to promoter hypermethylation was negatively correlated with JAK2 overexpression, a common occurrence in hematological malignancies. 25347426

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE The critical role of Janus kinase-2 (JAK2) in regulation of myelopoiesis was established 2 decades ago, but identification of mutations in the pseudokinase domain of JAK2 in myeloproliferative neoplasms (MPNs) and in other hematologic malignancies highlighted the role of JAK2 in human disease. 25824690

2015

Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker BEFREE Targeting the Inactive Conformation of JAK2 in Hematological Malignancies. 26175407

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation BEFREE The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies. 24404189

2014