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 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 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 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 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 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 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 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 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 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 AlteredExpression disease BEFREE A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. 9360930 1997