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 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 JAK2 and SRSF2 mutation were not associated with increased leukemia transformation. 29970342 2018
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 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 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 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 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 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 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 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 Supporting the notion that LT signalling plays a role in T-ALL, inactivation of Ltbr results in a significant delay in TEL-JAK2-induced leukaemia onset. 26456771 2015
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 AlteredExpression disease BEFREE SHP1 negatively regulates the Janus kinase 2/signal transducer and activator of transcription (JAK2/STAT) signaling pathway, which is constitutively activated in myeloproliferative neoplasms (MPNs) and leukemia. 25824741 2015
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 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
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 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 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 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