Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.050 GeneticVariation BEFREE However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. 28609766

2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.050 GeneticVariation BEFREE To determine the prevalence of the JAK2 V617F mutation in patients with a first episode of cerebral venous thrombosis. 22469236

2012
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.050 GeneticVariation BEFREE We aimed to study patients with splanchnic vein thrombosis (SVT) and cerebral vein thrombosis (CVT) searching for JAK2 mutations. 21893442

2011
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.050 GeneticVariation BEFREE Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. 18600099

2008
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.050 GeneticVariation BEFREE To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD. 17263783

2007