Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease. 29179580

2018
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. 28889200

2017
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance. 27090446

2016
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN To determine the frequency of Factor V Leiden in cases of Deep Vein Thrombosis and Healthy controls. 26649017

2015
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Novel FV mutation (W1920R, FVNara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden. 24523236

2014
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN A murine model of deep vein thrombosis: characterization and validation in transgenic mice. 16268462

2005
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. 14617013

2003
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. 11583312

2001
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 10666427

2000
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Spontaneous thrombosis in mice carrying the factor V Leiden mutation. 11110695

2000
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN The structure and function of murine factor V and its inactivation by protein C. 9616155

1998
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. 9454742

1998
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C. 7673148

1995
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C. 7734374

1995
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 7911872

1994
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN Mutation in blood coagulation factor V associated with resistance to activated protein C. 8164741

1994
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		0.730 Biomarker CLINGEN The molecular basis of blood coagulation. 3286010

1988