Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE JAK2 variants were detected at a higher frequency in the MPN>AML cohort (15.3%) in comparison with the MPN (4.6%; P < .001) and AML cohorts (5.2%; P < .001). 30811597 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Additionally, <b>18e</b> showed an excellent bioavailability (<i>F</i> = 58%), a suitable half-life time (<i>T</i><sub>1/2</sub> = 4.1 h), a satisfactory metabolic stability, and a weak CYP3A4 inhibitory activity, suggesting that <b>18e</b> might be a potential drug candidate for JAK2-driven myeloproliferative neoplasms and FLT3-internal tandem duplication-driven acute myelogenous leukemia. 31670517 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML. 30521925 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE ASXL1 and TET2 showed similar mutation frequencies across all analyzed entities while RUNX1, CBL, and JAK2 were specifically mutated in patients with acute myeloid leukemia (AML), chronic myelomonocytic leukemia, and myeloproliferative neoplasms, respectively. 30994218 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE This study provides clues in understanding structural basis of T875N mutation caused JAK2 hyperactivation and its roles in the pathology of AML. 31299252 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE This study highlights the therapeutic potential of JAK2/HDAC dual inhibitors in treating AML and IFIs and provides an efficient strategy for multitargeting drug discovery. 29940115 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Because of the low incidence of JAK2 mutation in acute myeloid leukemia (AML), the clinical features of AML with JAK2 mutation are rarely reported so far, either transformed from essential thrombocythemia (ET) or de novo AML. 29979407 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN. 29767839 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE FLT3 and JAK2 Mutations in Acute Myeloid Leukemia Promote Interchromosomal Homologous Recombination and the Potential for Copy Neutral Loss of Heterozygosity. 28108507 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE We previously demonstrated that Mediator kinase inhibitor cortistatin A (CA) reduced proliferation of JAK2-mutant AML in vitro and in vivo and also suppressed CDK8-dependent phosphorylation of STAT1 at serine 727. 29239838 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Acute myeloid leukemia with MYC rearrangement and JAK2 V617F mutation. 26382622 2015
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia. 26271725 2015
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE Chr12 abnormalities did not significantly correlate with JAK2 status, progression to acute myeloid leukemia, or survival, however patients with 12q24 abnormalities trended toward poorer outcomes. 25687833 2015
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to disease progression. 24845343 2015
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. 24404189 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE JAK2 inhibition using small molecule inhibitors or interference RNA reduced growth of AML LSCs while sparing normal stem cells both in vitro and in vivo. 24668492 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Here we report establishment of a new leukemia cell line, PVTL-1, homozygous for JAK2-V617F from a 73-year-old female patient with acute myeloid leukemia (AML) transformed from MPN. 24404189 2014
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker 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
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). 23115274 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications. 22818858 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE There is evidence that the JAK2 pathway is dysregulated in some acute myeloid leukemias and may also represent a novel therapeutic target in this disease. 23209034 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. 22571758 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR The oral HDAC inhibitor pracinostat (SB939) is efficacious and synergistic with the JAK2 inhibitor pacritinib (SB1518) in preclinical models of AML. 22829971 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease CLINVAR Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. 22422826 2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detected fibrosis without evidence of acute myelogenous leukemia (AML), a diagnosis of extramedullary blastic transformation of PMF was made, which was confirmed later by V617F mutation in Janus kinase-2 in both initial bone marrow biopsy and axillary tumor biopsy specimens. 22612514 2012