Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE Acute myeloid leukemia with MYC rearrangement and JAK2 V617F mutation. 26382622

2016

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia. 26271725

2016

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE 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

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia. 21786333

2012

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 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

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII. 22411871

2012

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 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

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse. 21689158

2011

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE They include the BCR/ABL in CML, the V617F JAK2 in Philadelphia chromosome-negative MPN, and the Flt3 ITD and TKD mutations in AML. 20809224

2011

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. 20153505

2010

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). 18030353

2008

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). 17229652

2007

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We conclude that JAK2-V617F-positive MPD frequently yields JAK2-V617F-negative AML, and transformation of a common JAK2-V617F-negative ancestor represents a possible mechanism. 17363731

2007

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 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

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. 16931578

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS. 16408098

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained. 16598306

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE The JAK2 V617F mutation in de novo acute myelogenous leukemias. 16247455

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007

2005