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: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE Negative regulation of JAK2 by H3K9 methyltransferase G9a in leukemia. 22801367 2012
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE These data support the testing of type II JAK2 inhibition in patients with JAK2-dependent leukemias and other disorders. 26175414 2015
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE To investigate the presence of mutations in the points most frequent for mutations (hotspot mutations) in phosphatidylinositol-3-kinase (PI3K), Janus kinase 2 (JAK2), FMS-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1), which are involved in leukemia and other cancers, in a population of Brazilian MDS patients. 21789382 2011
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE In particular, gain-of-function mutations in the <i>JAK</i> genes, most frequently, V617F in the pseudokinase domain of JAK2, have been mapped in patients with blood disorders, including myeloproliferative neoplasms and leukemias. 29379470 2017
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE JAK2 clinical mutations cause myeloproliferative neoplasms and leukemia, and the mutations strongly concentrate in the regulatory pseudokinase domain Janus kinase homology (JH) 2. 30092288 2019
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE In this report, we proposed that miRNA-101 targets Jak2 mRNA and regulates its expression and induces K562 leukemia cell apoptosis. 27517565 2016
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Survival was longer in JAK2 V617F-unmutated leukaemia (343 days vs. 95 days, P = 0·003). 28542718 2017
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE JAK2 and SRSF2 mutation were not associated with increased leukemia transformation. 29970342 2018
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE This study was conducted to investigate whether any association exists between genetic polymorphisms in the JAK2, STAT3 and STAT5 genes and individual susceptibility to leukemia. 22126101 2012
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). 21326037 2011
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Constitutively activated mutants of the non-receptor tyrosine kinases (TK) ABL1 (Abelson murine leukemia viral (v-abl) homolog (1) protein) and JAK2 (JAnus Kinase 2 or Just Another Kinase 2) play a central role in the pathogenesis of clinically and morphologically distinct chronic myeloproliferative disorders but are also found in some cases of de novo acute leukemia and lymphoma. 18528425 2008
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Tauhese results identify a previously unrecognized nuclear role for JAK2 in the phosphorylation of H3Y41 and reveal a direct mechanistic link between two genes, jak2 and lmo2, involved in normal haematopoiesis and leukaemia. 19783980 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE The incidence of JAK2 V617F in patients with a core binding factor (CBF) leukemia was 3.6% (p<0.01). 17229652 2007
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE While expression of mutant Jak2 was necessary for leukemia induction, neither its continued expression nor enzymatic activity was required to maintain leukemia survival and rapid proliferation. 29907650 2018
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE We conclude that all human TEL/JAK2 fusion variants are oncoproteins in vitro that strongly activate STAT 5, and cause lethal myelo- and lymphoproliferative syndromes in murine bone marrow transplant models of leukemia. 9736611 1998
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Fusion of the TEL gene on 12p13 to the JAK2 tyrosine kinase gene on 9p24 has been found in human leukemia. 11278610 2001
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia. 17851549 2008
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Mutations of N-RAS, FLT3 and p53 genes are not involved in the development of acute leukemia transformed from myeloproliferative diseases with JAK2 mutation. 16557239 2006
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease CTD_human Essential thrombocythemia: past and present. 19636672 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis among different MPNs, disease progression and leukaemia transformation will lead to a better understanding of the development of these disorders, their clinical manifestations, and their treatment. 23432162 2013
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Ginsenoside Rg1 induces apoptosis through inhibition of the EpoR-mediated JAK2/STAT5 signalling pathway in the TF-1/ Epo human leukemia cell line. 24761846 2014
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE Constitutive activation of Janus kinase 2/signal transducers and activators of transcription (JAK2/STAT) signaling has an important role in the oncogenesis of myeloproliferative neoplasms (MPNs) and leukemia. 23111066 2013
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE We previously showed that CD34⁺/CD38⁻ acute myelogenous leukemia (AML) cells, which contain leukemia stem cells, expressed a greater amount of the phosphorylated forms of JAK2 and STAT5 (p-JAK2 and p-STAT5) than their CD34⁺/CD38⁺ counterparts. 23564444 2013
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE We recently reported the involvement of ETV6-JAK2 fusion genes in the development of leukemia of both lymphoid and myeloid origin. 10449913 1999
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE Aberrant activation of the JAK-STAT pathway has been implicated in tumor formation; for example, constitutive activation of JAK2 kinase or the enforced expression of STAT5 induces leukemia in mice. 15578097 2004