Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Mice engrafted with 30% of Jak2(V617F) KI bone marrow (BM) cells developed a polycythemia vera-like disorder. 23558526

2013

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-negative by unlabeled probe melting curve analysis was found to be positive by the microchip. 26235214

2015

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. 16949922

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2 V617F mutation was positive before and after the diagnosis of PV; however, new chromosomal abnormalities were detected during the progression. 28700486

2017

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. 25968903

2015

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. 18055983

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. 16369984

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. 20551270

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. 22262773

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2(V617F) as well as measurement of serum erythropoietin. 20425336

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2 V617F is found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis and is, therefore, useful as a clonal marker in those settings. 19806146

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Similarly, in patients with PV, homozygous as compared with heterozygous JAK2(V617F) correlated with higher levels of PRV-1 expression (P = 0.11). 16197445

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We performed miRNA expression profiling by oligonucleotide microarray analysis in purified peripheral blood CD34+ cells from eight JAK2(V617F)-positive PV patients and six healthy donors. 23265742

2013

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. 28365441

2017

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. 16709929

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Most patients with polycythemia vera have JAK2(V617F) mutation. 17979493

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2 V617F positivity in patients with ET was associated with a clear increase in the odds of thrombosis [OR=1.83 (95% CI, 1.32-2.53), p<0.0001], and much higher odds of transformation to polycythemia vera [OR=7.67 (95% CI, 2.04-28.87), p=0.0009]. 18632151

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by CD239 overexpression. 18972067

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. 22796437

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). 25259626

2014

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in most polycythemia vera (PV) patients. 17976517

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients. 24951423

2014

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. 17875526

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2 V617F mutation is associated with three myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 22304488

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MPDs) we compared molecular changes in neutrophils from patients with polycythemia vera (PV) and essential thrombocythosis (ET), to neutrophils stimulated by G-CSF administration and to normal unstimulated neutrophils 19497108

2009