Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease UNIPROT Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential. 16603627 2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease 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
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease UNIPROT Here, we describe a clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients. 15793561 2005
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease UNIPROT A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187 2005
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.200 Biomarker disease RGD A novel oral neutrophil elastase inhibitor (ONO-6818) inhibits human neutrophil elastase-induced emphysema in rats. 12186827 2002
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 SomaticCausalMutation disease ORPHANET
Entrez Id: 54790
Gene Symbol: TET2
TET2 		0.400 SomaticCausalMutation disease ORPHANET TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. 19262601 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL 		0.400 SomaticCausalMutation disease ORPHANET
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 Biomarker disease MGD Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells. 20541703 2010
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 Biomarker disease MGD Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. 20472827 2010
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease LHGDN Identification of an acquired JAK2 mutation in polycythemia vera. 15863514 2005
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease LHGDN Cellular origin and lineage specificity of the JAK2(V617F) allele in polycythemia vera. 17190855 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease LHGDN Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. 16620973 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease LHGDN JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. 18056003 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 AlteredExpression disease 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 		1.000 GeneticVariation disease LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. 18754026 2008
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease LHGDN Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. 17597810 2007
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease LHGDN JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007