Variant Gene Disease 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 13 of the 27 JAK2 V617F-positive subjects with SVT were previously known to have a myeloproliferative disease (MPD). 17307838

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2(V617F).The etiology of MPNs remains unknown. 22076943

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients. 22227528

2012

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F. 22513837

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity. 28008177

2017

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. 29042365

2018

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A general theme is that JAK2 V617F is variably associated with thrombosis and, more consistently, associated with elevations in blood counts relative to mutation-negative myeloproliferative disorders; future preclinical research should focus on the pathophysiology of thrombosis in myeloproliferative disorders, particularly in terms of the relationship between dysregulated Janus kinase 2 and elevated blood counts. 17934351

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD). 17698191

2008

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A quantitative assay for JAK2(V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. 16572198

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. 23558526

2014

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis. 20205617

2010

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages. 26843622

2017

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia. 21722956

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms. 26692333

2016

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. 16675710

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Allelic expression imbalance of JAK2 V617F mutation in BCR-ABL negative myeloproliferative neoplasms. 23349688

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. 16081684

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. 16330446

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade. 19216843

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE An acquired autoactivating mutation with a V617F amino-acid substitution in the JAK2 tyrosine kinase is frequently found in BCR/ABL-negative myeloproliferative disorders (MPD). 17230231

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identified in human myeloproliferative disorders. 17384221

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs). 18160670

2008

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. 16225651

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders. 17266061

2007