Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Quantitative determination of JAK2 V617F by TaqMan: An absolute measure of averaged copies per cell that may be associated with the different types of myeloproliferative disorders. 17384217

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
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

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Influence of Blood Count, Cardiovascular Risks, Inherited Thrombophilia, and JAK2 V617F Burden Allele on Type of Thrombosis in Patients With Philadelphia Chromosome Negative Myeloproliferative Neoplasms. 30301673

2019

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Discovery of the JAK2 V617F mutation in the myeloproliferative neoplasms (MPNs) essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) has stimulated great interest in the underlying molecular mechanisms and treatment of these diseases. 23023734

2012

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis. 21435189

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights into the development of myeloproliferative disorders; however, the pathogenesis of essential thrombocythemia and its related thrombotic complications has not been completely understood. 18600099

2008

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN). 29150911

2018

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE These findings suggest that the presence of extra derivative chromosomes der(1q;9p) in combination with the JAK2 V617F mutation may play a role in the progression of myeloproliferative neoplasms and supports the use of cytogenetics in the follow-up of the disease. 21376394

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. 19797525

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. 23130336

2012

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The majority of Myeloproliferative Neoplasms (MPNs) are characterised by mutations in genes encoding molecules or receptors involved in cell signalling, the most common being the JAK2 V617F mutation. 19747364

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). 29717448

2018

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We show here that PP2A is inactive in polycythemia vera (PV) and other myeloproliferative neoplasms characterized by the expression of the transforming Jak2(V617F) oncogene. 23926298

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects. 19939582

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders. 16670266

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations. 17194663

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. 17984312

2008

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The substitution of valine with phenylalanine at amino acid 617 of the Janus kinase 2 (JAK2) gene (JAK2 p.V617F) occurs in a high proportion of patients with myeloproliferative neoplasms (MPNs). 23537216

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The majority of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) harbor a gain of function mutation V617F in Janus kinase (JAK) 2. 31227936

2019

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Calreticulin mutation represents the second most frequent mutation after JAK2 V617F in myeloproliferative disorder and is considered to be a driving mutation. 26460248

2015

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Endothelial progenitor cells are clonal and exhibit the JAK2(V617F) mutation in a subset of thrombotic patients with Ph-negative myeloproliferative neoplasms. 21212285

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Our understanding of the genetic basis of myeloproliferative neoplasms began in 2005, when the JAK2 (V617F) mutation was identified in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 24786775

2014

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Mutation(s) of the JAK2 gene (V617F) has been described in a significant proportion of Philadelphia negative Myeloproliferative Neoplasms (MPN) patients and its detection is now a cornerstone in the diagnostic algorithm. 23865766

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The transcription factor nuclear factor erythroid-2 is over-expressed in patients with myeloproliferative neoplasms irrespective of the presence of the JAK2(V617F) mutation. 23445878

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The molecular basis of JAK2 (V617F)-negative myeloproliferative neoplasms remains largely unexplained. 20528738

2010