Gene: JAK2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE Yet, the JAK2 V617F mutation is not a PV-initiating event and the family clustering of PV suggests a contribution of inherited genetic events. 21794206

2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE Within the JAK2 V617F-positive PV patients, however, clinical presentation and degree of myeloproliferation varies to a great extent. 17213018

2007
dbSNP: rs12339666
rs12339666
JAK2 ; INSL6
0.010 GeneticVariation BEFREE When stratified by disease subtypes, the <i>JAK2</i> 46/1 haplotype and <i>JAK2</i> rs12339666 were significantly associated with all three MPN subtypes, but <i>TERT</i> rs2736100 was only associated with essential thrombocythemia and polycythemia vera. 29100304

2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 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

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We would like to report and review the relationship between ACS and polycythemia vera</span> with JAK2 V617F mutation. 26825737

2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. 18768782

2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 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
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutations favors clonal polycythemia vera erythroid progenitors in contrast with non-TET2 mutated progenitors. 21273266

2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We show here that PP2A is inactive in polycythemia vera (PV)</span> and other myeloproliferative neoplasms characterized by the expression of the transforming Jak2(V617F) oncogene. 23926298

2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276

2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. 19643476

2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We report here the first profound and sustained molecular responses with a JAK2 V617F allele burden below 1.0% in two patients with polycythemia vera treated with interferon alpha-2b (IFN-2b). 18481066

2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 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
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it exhibits marked efficacy in a xenograft model of Jak2-V617F-mediated hyperplasia and a transgenic mouse model of Jak2-V617F-mediated polycythemia vera/essential thrombocytosis. 22796437

2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We provide evidence of increasing JAK2 V617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively). 17961178

2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation that had a diffuse reticulonodular pattern on chest radiography and was initially suspected of having military tuberculosis. 21790864

2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We performed miRNA expression profiling by oligonucleotide microarray analysis in purified peripheral blood CD34+ cells from eight JAK2(V617F)-positive PV patients and six healthy donors. 23265742

2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We performed immunohistochemical studies of MVD and VEGF-expression in 100 MPN, including 24 essential thrombocythemia- (ET), 46 polycythemia vera- (PV), 26 primary myelofibrosis- (PMF), four myelodysplastic (MDS)/MPN- and 20 control reactive bone marrow cases, and correlated these findings with biological and clinical key data and the JAK2-V617F status. 19466975

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We pay particular attention to the newly identified JAK2 V617F mutation in polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis and deal with disease heterogeneity and putative additional molecular mechanisms. 17131059

2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We observed a reciprocal relationship between neutrophil JAK2 V617F allele percentage and platelet Mpl expression in JAK2 V617F-positive PV, IMF, and ET patients. 16912229

2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We identified JAK2 exon 12 lesions in 30% of JAK2 V617F-negative PV patients, and either JAK2 V617F or JAK2 exon 12 lesions in 9% of erythrocytosis patients. 17920755

2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations. 21904853

2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We found clonal mutations (i.e.H538-K539delinsL and D544G) in 3 of 7 JAK2-V617F-negative PV patients, however, unlike JAK2-V617F, allele burden of JAK2 exon 12 mutation was low. 19491085

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. 19941738

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.900 GeneticVariation BEFREE We detected the JAK2 V617F mutation in B and NK cells in approximately half the patients with IMF and a minority of those with PV. 16954506

2007