|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules.
|
17577920 |
2007 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
V617F-positive ET and P</span>V displayed significant differences in their serum protein profiles.
|
18838204 |
2008 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 52-year-old man developed essential thrombocythemia (ET) with JAK2 V617F mutation after orthotopic liver transplantation (OLT).
|
16929538 |
2006 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation.
|
20633767 |
2010 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation.
|
20633767 |
2010 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
|
rs77375493
|
|
Petechiae
|
|
0.010 |
GeneticVariation
|
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
|
rs77375493
|
|
Petechiae of skin
|
|
0.010 |
GeneticVariation
|
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
A valine-to-phenylalanine substitution at position 617 (V617F) in the Janus kinase 2 (JAK2) gene has been recently associated with key signaling abnormalities in the transduction of haemopoietic growth-factor receptors and is now considered as a useful clinical marker of myeloproliferative neoplasms.
|
20359349 |
2010 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation.
|
20660330 |
2010 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
A close relation of the JAK2 V617F mutation to atherothrombotic events has been described, at least in patients with MPN.
|
24265174 |
2014 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
A computerized archival search was performed for cases of non-chronic myeloid leukemia (CML) MPNs with available CALR and JAK2 V617F mutational analysis data.
|
27686170 |
2016 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
A further longitudinal study monitoring V617F positive-cells will clarify the process of progression from IE to PV in such a patient.
|
18528646 |
2008 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
Myeloproliferative disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
A gradient was observed in laboratory values between patients with JAK2 wild-type ET, JAK2 V617F ET and PV (all of whom carried the JAK2 mutation).
|
17229651 |
2007 |
|
rs77375493
|
|
Acute leukemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p<0.0001), but not with the transformation to acute leukemia.
|
22818858 |
2013 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles.
|
16373657 |
2006 |