Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Thrombophilia testing (including AT, PS & PC, F5 G1691A (FV Leiden)/F2 (prothombin G20210A) genotypes, homocysteine, antiphosphlipid antibody, paroxysmal nocturnal haemoglobinuria by flow cytometry and Janus Kinase-2 (exon 14)) were normal. 27812779

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE In our cases, the prognostic value of these variables was coherent, being thrombotic events significantly associated with age >65 years (p = 0.001), JAK2 mutation (p = 0.01), and positive thrombophilia tests (p = 0.04). 27595148

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). 25042466

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE A work-up for JAK2 V617F mutation and thrombophilia was done. 23941968

2013

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The contribution of JAK2 mutations to the hypercoagulable state of thalassemic patients is still unknown. 22203487

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. 21232003

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE In conclusion, in the younger patients with ET the thrombotic risk is higher in the JAK2 V617F-mutated and is further increased by the presence of inherited thrombophilia. 19336736

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. 18768782

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. 18796251

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation. 17263783

2007