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: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN JAK2V617F mutation in patients with portal vein thrombosis. 18343999 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN JAK2(V617F) is variably associated with thrombosis and, more consistently, with elevations in blood cell counts. 19176988 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN This study adds further support to the contention of the JAK2 V617F mutation as a marker of increased risk of thrombosis. 18616871 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN The role of screening for the JAK2 V617F mutation in patients presenting with thrombosis without overt MPD is unclear, but appears justified in cases of idiopathic splanchnic vein thrombosis. 19004076 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN JAK2 V617F mutation is associated with increased risk of thrombosis in Chinese patients with essential thrombocythaemia. 18410451 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN Fourteen (74%) of the 19 patients were heterozygous for JAK2(V617F) but did not meet diagnostic criteria for a MPD at the time of presentation with thrombosis. 19046316 2008
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 Biomarker phenotype LHGDN Thrombosis can occur at any phase of essential thrombocythemia with JAK2(V617F) mutation: a single institutional study in Japan. 17392820 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN The results showed that (1) an increased leukocyte count at diagnosis was associated with thrombosis during follow-up ("baseline analysis," relative risk [RR] 2.3, 95% confidence interval [CI] 1.4-3.9, P = .001); (2) hydroxyurea (HU) lowered leukocytosis and reduced the strength of the association between leukocytosis and thrombosis ("time-dependent analysis," RR 1.6, 95% CI 0.9-2.0, not significant [NS]); (3) the association of leukocytosis and thrombosis was more evident in untreated low-risk patients (RR 2.7, 95% CI 1.2-6.4, P = .01) compared with HU-treated high-risk patients (RR 1.6, 95% CI 0.8-3.2, NS); and (4) the presence of JAK2 V617F was not identified as a risk factor for thrombosis during follow-up despite a significant association between the mutation and leukocytosis. 17110452 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN The association of JAK2V617F mutation and leukocytosis with thrombotic events in essential thrombocythemia. 17920754 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN We investigated the V617F mutation of the JAK2 gene in 295 patients with thrombosis.Only one case was positive. 17296594 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN Uncontrolled thrombocytosis in polycythemia vera is a risk for thrombosis, regardless of JAK2(V617F) mutational status. 17611562 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 Biomarker phenotype LHGDN JAK2 V617F is specifically associated with idiopathic splanchnic vein thrombosis. 17403204 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN To assess the prevalence and clinical implications of this mutation in the setting of intra-abdominal thrombosis, JAK2 V617F genotyping was performed in 42 patients who had catastrophic intra-abdominal thromboses resulting in visceral transplants. 17439832 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. 17229651 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN We studied markers of platelet and coagulation activation in a large cohort of patients with MPD (n = 118) and related this to Janus Kinase 2 (JAK2) V617 F mutation status, a marker of clonality, and the presence of antiphospholipid antibodies (APA), all of which have been associated with thrombosis in MPD. 17596137 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN Six out of 18 patients (33%) were positive for the JAK2 mutation, and five of these six patients had a history of thrombosis. 17703302 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
0.100 GeneticVariation phenotype LHGDN Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. 17057021 2006