JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Further research into the role of JAK2 translocations in the pathogenesis and outcomes of hematologic malignancies is warranted. 31063994 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Activating mutations in JAK2 have been described in patients with various hematologic malignancies including acute myeloid leukemia (AML) and myeloproliferative neoplasms. 31299252 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 AlteredExpression group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE JAK-2 dysregulation plays an important role as an oncogenic driver, and is thus a promising therapeutic target in hematological malignancies. 29262601 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 AlteredExpression group BEFREE Decreased PLK4 protein expression due to promoter hypermethylation was negatively correlated with JAK2 overexpression, a common occurrence in hematological malignancies. 25347426 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Targeting the Inactive Conformation of JAK2 in Hematological Malignancies. 26175407 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE We also discuss the role of JAK inhibitors for treatment of CSF3RT618I-mutated chronic neutrophilic leukemia and hematologic malignancies with rearranged JAK2 gene. 25520049 2014
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE With the discoveries of underlying mutations in JAK2, MPL, and, most recently, calreticulin (CALR), that together account for ∼90% of patients with MPNs, these conditions are now among the best characterized of hematological malignancies. 25696868 2014
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE JAK2 fusion genes are rare but recurrent abnormalities associated with diverse, clinically heterogeneous hematologic malignancies. 22875628 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Although multiple mutations within JAK2, which abrogate the function of JH2 and sustain JAK2 activation, are widely observed in hematological malignancies, comparable mutations have not been detected in solid tumors. 23676499 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Antagonistic activities of the immunomodulator and PP2A-activating drug FTY720 (Fingolimod, Gilenya) in Jak2-driven hematologic malignancies. 23926298 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Ruxolitinib is an oral JAK1 and JAK2 inhibitor that has recently been approved for the treatment of myelofibrosis and has been tested against other hematologic malignancies. 23406773 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples. 23807288 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Therefore, we have defined a potentially curative treatment for hematological malignancies expressing constitutively active JAK2. 24268771 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE While activation of STAT3 is commonly achieved by somatic mutations to JAK2 in hematologic malignancies, similar mutations are not often found in solid tumors. 22319590 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPN) are clonal hematological malignancies that are frequently -associated with an acquired somatic mutation in JAK2 (JAK2V617F). 21761323 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE JAK2 is a tyrosine kinase with oncogenic potential in hematologic malignancies. 21091042 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE The diagnostic value of JAK2 mutational analysis in myeloproliferative neoplasms (MPN) is now well established and endorsed by the World Health Organization classification system for hematologic malignancies. 20214447 2010
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.500 Biomarker group BEFREE Rearrangements of JAK2 are rare and have been described in various hematological neoplasms. 20594592 2010