Source: CTD_human

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 Biomarker CTD_human Discovery of 1-amino-5H-pyrido[4,3-b]indol-4-carboxamide inhibitors of Janus kinase 2 (JAK2) for the treatment of myeloproliferative disorders. 21942426

2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human Budd-Chiari syndrome and heparin-induced thrombocytopenia in polycythemia vera: successful treatment with repeated TIPS and interferon alpha. 20160369

2010
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human Limited efficacy of hydroxyurea in lowering of the JAK2 V617F allele burden. 19154659

2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 19287382

2009
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human However, it is generally believed that JAK2(V617F) is not the sole molecular abnormality in PV. 18717827

2008
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human 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 Biomarker CTD_human Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia. 16484586

2006
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human 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
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human 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
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 Biomarker CTD_human A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187

2005