JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 Biomarker phenotype CTD_human JAK2 V617F mutation, mesenteric vein thrombosis, and myeloproliferative disorders. 20434300 2010
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms. 19105231 2009
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN The V617F JAK 2 mutation is not a frequent event in patients with cerebral venous thrombosis without overt chronic myeloproliferative disorder. 18521518 2008
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN JAK2V617F mutation screening as part of the hypercoagulable work-up in the absence of splanchnic venous thrombosis or overt myeloproliferative neoplasm: assessment of value in a series of 664 consecutive patients. 18380991 2008
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN Venous thrombosis in oral contraceptive users and the presence of the JAK2 V617F mutation. 18327418 2008
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD. 17263783 2007
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 GeneticVariation phenotype LHGDN JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder. 17460706 2007
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.460 Biomarker phenotype HPO