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 Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis. 28331226 2017
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 JAK2 and SRSF2 mutation were not associated with increased leukemia transformation. 29970342 2018
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 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 AlteredExpression disease BEFREE A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. 9360930 1997
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 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 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 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 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 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 Discovery of Janus Kinase 2 (JAK2) and Histone Deacetylase (HDAC) Dual Inhibitors as a Novel Strategy for the Combinational Treatment of Leukemia and Invasive Fungal Infections. 29940115 2018
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 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 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 Biomarker disease BEFREE Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2. 25951811 2015
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE In approximately 60% of patients, the Janus kinase 2 gene is mutated, in 20%, the calreticulin gene is mutated, and in 5%, the myeloproliferative leukemia virus gene is mutated. 27686378 2017
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 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 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 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 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 Negative regulation of JAK2 by H3K9 methyltransferase G9a in leukemia. 22801367 2012
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