Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.110 Biomarker BEFREE We investigated the association between cerebral venous thrombosis and hereditary resistance to activated protein C (APC) in 12 consecutive German patients with non-fatal cerebral venous thrombosis and in 187 controls without a history of thrombotic disorder. 9553844

1998

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 Biomarker BEFREE Lupus anticoagulant, factor V Leiden, and methylenetetrahydrofolate reductase gene mutation in a lupus patient with cerebral venous thrombosis. 15293102

2004

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 GeneticVariation BEFREE However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data. 29402471

2018

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 GeneticVariation BEFREE We conclude that inherited APC resistance by a mutation in factor V Leiden is an important risk factor in non-fatal cerebral venous thrombosis. 9553844

1998

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 GeneticVariation BEFREE Genetic thrombophilic conditions such as those associated with Factor V Leiden (FVL) and the prothrombin mutant (PT G20210A) have been identified as risk factors for cerebral venous thrombosis (CVT). 16155788

2006

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 GeneticVariation BEFREE Prevalence and geographical variation of Factor V Leiden in patients with cerebral venous thrombosis: A meta-analysis. 30157246

2018

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 GeneticVariation BEFREE The presence of prothrombin 19911 A>G was investigated in a case–control study of 107 patients with cerebral thrombosis and factor V Leiden (n = 25), prothrombin 20210 GA (n = 47), without known thrombophilia (n = 35) and 842 healthy individuals with the corresponding coagulation profile. 20482605

2010

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.070 Biomarker BEFREE Hyperhomocysteinemia and other newly recognized inherited coagulation disorders (factor V Leiden and prothrombin gene mutation) in patients with idiopathic cerebral vein thrombosis. 14707415

2004

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 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 To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD. 17263783

2007

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 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: 1361
Gene Symbol: CPB2
CPB2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE Thrombin-Activatable Fibrinolysis Inhibitor Polymorphisms and Cerebral Venous Thrombosis in Mexican Mestizo Patients. 29629564

2018

Entrez Id: 1361
Gene Symbol: CPB2
CPB2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE The association between TAFI gene polymorphisms -438G>A, +505A>G and +1040C>T and cerebral venous thrombosis was investigated. 23264082

2013

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE The aim of this case-control study was to analyze whether variants of the PAI-1 promotor genotype 4G/4G, 4G/5G and 5G/5G, in particular the 4G/5G-variant, constitute an independent risk factor of cerebral venous thrombosis (CVT). 22527222

2012

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE In addition the role of prothrombotic risk factors, including PAI-1 4G/5G promoter polymorphism, in cerebral vein thrombosis should be clarified in a multicentre study. 10789926

2000

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis. 17456624

2007

Entrez Id: 1361
Gene Symbol: CPB2
CPB2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 GeneticVariation BEFREE Haplotypes of TAFI gene and the risk of cerebral venous thrombosis--a case-control study. 24252537

2014

Entrez Id: 1351
Gene Symbol: COX8A
COX8A
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.020 Biomarker BEFREE Elevated factor VIII increases the risk of cerebral venous thrombosis: a case-control study. 29737426

2018

Entrez Id: 1351
Gene Symbol: COX8A
COX8A
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.020 Biomarker BEFREE A Case of Cerebral Venous Thrombosis and Deep Venous Thrombosis Due to Hyperthyroidism with Increased Factor VIII Activity. 31521516

2019

Entrez Id: 2878
Gene Symbol: GPX3
GPX3
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.020 GeneticVariation BEFREE The aim of this study is to identify possible relationships between promoter haplotypes in the GPx-3 gene and cerebral venous thrombosis (CVT). 18096833

2008

Entrez Id: 2878
Gene Symbol: GPX3
GPX3
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.020 Biomarker BEFREE The glutathione peroxidase 3 gene (GPX3) is reported to be a risk factor for arterial ischaemic stroke and cerebral venous thrombosis. 28738977

2017

Entrez Id: 10603
Gene Symbol: SH2B2
SH2B2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.010 GeneticVariation BEFREE However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data. 29402471

2018

Entrez Id: 302
Gene Symbol: ANXA2
ANXA2
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.010 AlteredExpression BEFREE Over-expression of A2 is seen in acute promyelocytic leukemia during the early hemorrhagic phase, while high titer antibodies to A2, as in antiphospholipid syndrome or cerebral venous thrombosis, are associated with thrombosis. 21440088

2011