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 A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. 9360930 1997
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 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 Biomarker disease BEFREE TEL-JAK2 founder mice and their transgenic progeny developed fatal leukemia at 4 to 22 weeks of age. 10845925 2000
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 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
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 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 Biomarker disease BEFREE Pre-TCR signaling synergizes with TEL-JAK2 to transform immature thymocytes and initiate leukemogenesis as shown by (1) the delayed leukemia onset in Rag2-, CD3epsilon- and pTalpha-deficient mice, (2) the occurrence of recurrent chromosomal alterations in pre-TCR-deficient leukemia, and (3) the correction of delayed leukemia onset in Rag2-deficient TEL-JAK2 mice by an H-Y TCRalphabeta transgene that mimics pre-TCR signaling. 17192390 2007
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Moreover, JAK2 V617F mutations in CBF leukemias were associated with an aggressive clinical course with 80% of the patients relapsing. 17229652 2007
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 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 BEFREE The only patient with non-Down's syndrome-associated leukaemia but with a JAK2 mutation had an isochromosome 21q. 18805579 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 Biomarker disease CTD_human Essential thrombocythemia: past and present. 19636672 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE A search for additional mutations identified alterations of RUNX1, WT1, TP53, CBL, NRAS, and TET2, without significant differences between JAK2-mutant and wild-type leukemias. 20008300 2010
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 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 GeneticVariation disease BEFREE Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wild-type counterparts with regard to JAK2 V617F status, exposure to chemotherapy or evolution to leukemia. 21712540 2011
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 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 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 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