Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
T 0.900 CausalMutation CLINVAR

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information. 16197451

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Similarly, in patients with PV, homozygous as compared with heterozygous JAK2(V617F) correlated with higher levels of PRV-1 expression (P = 0.11). 16197445

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation UNIPROT A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor 1 (IGF1), which is a hallmark of PV erythroid progenitors. 16239216

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. 16081684

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. 16210033

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a valine to phenylalanine substitution at position 617 (V617F) was found in the majority of PV patients. 16210035

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2 sequencing revealed a unique mutation in the JH2 domain leading to a V617F substitution in more than 80% of the PV samples. 16304380

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F</span> mutation cannot by itself establish a diagnosis of PV. 16210034

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers. 16325696

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation UNIPROT A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 15793561

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93). 15858187

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features. 16225651

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation UNIPROT A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. 16247455

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. 16949922

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. 16369984

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2(V617F) as well as measurement of serum erythropoietin. 20425336

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. 16709929

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET. 16728702

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. 16293597

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
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
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome. 16825501

2006