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 With the discovery of the JAK2 V617F mutation and its presence in many patients with myeloproliferative neoplasms, research in the JAK2 inhibitor arena has dramatically increased. 22041060

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. 25746303

2015

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 We selected the six patients with myelodysplastic syndromes or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene. 19474426

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We identified a haplotype that preferentially acquires JAK2(V617F) and confers susceptibility to myeloproliferative neoplasms. 19287385

2009

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis). 22006129

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm. 20153505

2010

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. 16916724

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant. 31255914

2019

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE To evaluate the mutation frequency of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 and the value of the combined tests in the diagnosis of BCR-ABL1-negative myeloproliferative neoplasms (MPNs). 26071474

2015

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Thus, a genetic predisposition to acquisition of JAK2 (V617F) is inherited in families with myeloproliferative disorders. 16998940

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE These results suggest that combined treatment with givinostat and hydroxyurea is a potential strategy for the management of Jak2(V617F) myeloproliferative neoplasms. 23111067

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE These results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a major role in the development of JAK2 V617F myeloproliferative disorders. 18843287

2009

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 These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. 17178722

2007

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 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 study mainly aimed at investigating possible correlations between peripheral blood counts, erythropoietin (EPO), JAK2 V617F mutation, and vascular complications prior to diagnosis of a population-based cohort of newly diagnosed patients with myeloproliferative neoplasms (MPN). 28251679

2017

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The second category includes inherited predisposition to true Philadelphia-negative myeloproliferative neoplasms (MPN) and is characterized by low penetrance, clonal haematopoiesis and presence of somatic mutations such as JAK2 V617F. 21303356

2011

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The recurrent V617F mutation in JAK2 (JAK2V617F) has emerged as the primary contributor to the pathogenesis of myeloproliferative neoplasms (MPN). 26755644

2016

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The recently described V617F mutation in the Janus kinase 2 (JAK2) gene allows defining subclasses of patients with myeloproliferative disorders based on the JAK2 genotype. 16081684

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. 28609766

2017

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The presence of JAK2 V617F is associated with an inherited JAK2 46/1 haplotype, a risk factor for myeloproliferative neoplasms (MPN) in Caucasian populations. 23054641

2012

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are associated with increases in janus kinase 2 (JAK2) signaling, often resulting from the JAK2 V617F mutation. 30025280

2018