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 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation CLINVAR De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. 22571758

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation 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
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 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 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 CLINVAR JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. 21120162

2010

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 HPO

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