Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature. 19167611

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN "The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia." 18701405

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 Biomarker LHGDN Long-term bone marrow cultures (LTBMC) from essential thrombocythemia (ET) patients with or without JAK2617V>F mutation. 18321571

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 AlteredExpression LHGDN Rapid decline of JAK2V617F levels during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia. 18519514

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. 18754026

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy. 18728027

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Furthermore, CP-690,550 treatment of ex-vivo-expanded erythroid progenitors from JAK2(V617F)-positive PV patients resulted in specific, antiproliferative (IC(50) = 0.2 microM) and pro-apoptotic activity. 18482053

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms. 18566540

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR. 18720212

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 Mutations are present in all cases of polycythemia vera. 18079740

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Behavioral, biochemical, and genetic analysis of iron metabolism in high-intensity blood donors. 18657084

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. 18195094

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow. 17625603

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates. 18081705

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN We conclude that a burden of JAK2(V617F) allele greater than 75% at diagnosis points to PV patients with high-risk disease. 17625606

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. 17389763

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Cellular origin and lineage specificity of the JAK2(V617F) allele in polycythemia vera. 17190855

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. 16620973

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. 18056003

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. 17597810

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Bone marrow renin-angiotensin system expression in polycythemia vera and essential thrombocythemia depends on JAK2 mutational status. 17873518

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. 17476276

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders. 17266061

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 Biomarker LHGDN Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. 17379742

2007