Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker HPO

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CGI

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 CausalMutation CLINVAR

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE Acute myeloid leukemia with MYC rearrangement and JAK2 V617F mutation. 26382622

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE JAK2 mutation was also detected in 3 (19%) of 16 patients with Philadelphia-chromosome (Ph)-negative chronic myelogenous leukemia (CML), 2 (18%) of 11 patients with megakaryocytic AML, 7 (13%) of 52 patients with chronic myelomonocytic leukemia, and 1 (1%) of 68 patients with myelodysplastic syndromes. 16037387

2005

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE JAK2 mutation was not detected in Ph+ chronic myeloid leukemia (n = 5), acute myeloid leukemia (n = 10), acute lymphoblastic leukemia (n = 10), secondary erythrocytosis (n = 10), or normal bone marrow (n = 10). 16645202

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). 17229652

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation LHGDN JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers. 17581610

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by LightCycler technology applying melting curve analysis with the hybridization probe detection format in 176 patients with acute myeloid leukemia under 60 years diagnosed consecutively and treated with curative intent. 21791467

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. 20153505

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia. 18503828

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A case of myeloid sarcoma with correlation to JAK2V617F mutation, complicated by myelofibrosis and secondary acute myeloid leukemia. 22041374

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A patient with a 20-year lag phase between JAK2-V617F+ myeloproliferation and NPM1-mutated AML arguing against a common origin of disease. 21689158

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. 20631743

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. 20339092

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 Biomarker LHGDN AML1-ETO meets JAK2: clinical evidence for the two hit model of leukemogenesis from a myeloproliferative syndrome progressing to acute myeloid leukemia. 17625612

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation BEFREE Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML). 22571758

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 PosttranslationalModification LHGDN As the abnormal activation of JAK2 associated pathway is important to AML, we try to explore the effect of HHT on JAK2-STAT pathway in AML cells, thus supplying theoretical basis for wider use of HHT. 18616510

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 AlteredExpression BEFREE As the abnormal activation of JAK2 associated pathway is important to AML, we try to explore the effect of HHT on JAK2-STAT pathway in AML cells, thus supplying theoretical basis for wider use of HHT. 18616510

2008