Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation. 16990584

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. 17018857

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected. 17059429

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. 17133423

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD). 17145859

2006

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia. 17178722

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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

2006

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis. 17213018

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). 17255768

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated. 17296581

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The JAK2 V617F mutation is a frequent genetic event in the three classical Philadelphia-chromosome negative chronic myeloproliferative disorders (Ph(neg.)-CMPD), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). 17313377

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. 17317861

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis. 17389152

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Overall survival and probability of survival free of thrombosis, bleeding and MF were analyzed by the Kaplan-Meier method and the presence of the Janus Kinase 2 (JAK2) V617F mutation correlated with the appearance of such complications. 17519959

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation. 17565328

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V6</span>17F) does not appear to be a causative factor. 17587878

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We conclude that JAK2 V617F genotype should be considered in any future risk stratification of patients with PMF. 17712047

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more "erythremic" and less "thrombocythemic": a molecular, histologic, and clinical study. 17875526

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We provide evidence of increasing JAK2 V</span>617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively). 17961178

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Development of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F. 18033315

2008

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. 18048969

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. 18165278

2008

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. 18336541

2008

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis. 18612778

2008