Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Since the discovery of the activating V617F mutation in Janus kinase 2 (JAK2), a number of pharmacologic inhibitors of JAK2 have entered clinical trials for patients with myelofibrosis. 28441920

2017

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. 25934766

2016

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. 25870379

2016

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis. 26228487

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. 24951423

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. 24856675

2014

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. 24186132

2014

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. 22818858

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. 23313046

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The most prevalent mutation identified is a gain-of-function mutation in the Janus kinase (JAK) family, JAK2 V617F, which has been identified in more than half of patients with myelofibrosis. 23307549

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis. 22280409

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure. 22463737

2012

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Collectively, these results indicate that G6 is efficacious in Jak2-V617F-mediated myelofibrosis, and given its bone marrow efficacy, it may alter the natural history of this disease. 22796437

2012

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Compared with JAK2 (V617F)-positive PV patients, those with exon 12 mutations had significantly higher hemoglobin level and lower platelet and leukocyte counts at diagnosis but similar incidences of thrombosis, myelofibrosis, leukemia, and death. 21224469

2011

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. 20650526

2011

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV. 20631743

2010

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis. 20008195

2010

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE About half of patients with myelofibrosis carry a gain-of-function mutation in the Janus kinase 2 gene (JAK2 V617F) that contributes to the pathophysiology of the disease. 20843246

2010

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis. 17183644

2010

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). 19287382

2009

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu. 19277418

2009

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L. 18769448

2008

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. 16563504

2007

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM. 17266061

2007