Disease: Venous Thromboembolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Activated protein C (APC) resistance, due to a point mutation in the factor V gene (FV:Q506), is a major risk factor for venous thromboembolism. 10235434 1999
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Activated protein C (APC) resistance is a common risk factor for venous thromboembolism (VTE) attributed to various mechanisms, including factor V Leiden (FVL) polymorphism. 12520697 2003
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Activated protein C (APC) resistance with or without factor V Leiden (FVL) is a major risk factor for venous thromboembolism. 16420566 2006
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Activated protein C (APC) resistance is related to a single point mutation in the factor V gene (FV:Q506) and appears to be the most common inherited risk factor for venous thromboembolism. 9690807 1998
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE A single factor V gene G-A mutation (Arg506Gln) underlying activated protein C (APC) resistance is a common risk factor for venous thromboembolism. 9705241 1998
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE A total of 685 consecutive patients with at least one episode of VTE and 266 sex- and age-matched healthy controls were screened with regard to activated protein C resistance, protein C, protein S, and antithrombin deficiency, elevated serum levels of Lp(a), and the factor V G1691A, MTHFR C677T, and prothrombin G20210A mutations. 11071628 2000
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Among them, the factor V (FV) Leiden mutation causes a reduced ability of activated protein C to inactivate activated FV and is the most frequent genetic predisposing factor for venous thromboembolism. 19932655 2010
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Because activated protein C resistance is a common risk factor for venous thromboembolism, we prospectively evaluated the activated protein C sensitivity ratio and factor V Leiden mutation in cancer patients with and without venous thromboembolism. 11165549 2001
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Factor V Leiden is a genetic disorder characterized by a poor anticoagulant response to activated Protein C and an increased risk for venous thromboembolism. 21116184 2011
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). 29294595 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Furthermore, the normalized activated protein C sensitivity ratio of 80% of the users of third-generation preparations fell within the 5th to 95th percentile of the normalized activated protein C sensitivity ratio of female carriers of factor V Leiden, a mutation that is associated with hereditary resistance to activated protein C and with an increased risk of venous thromboembolism. 10368524 1999
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Here we have analysed 125 consecutive patients with incidental or recurrent venous thromboembolism for the presence of mutations at the cleavage sites for APC at amino acid positions Arg336 and Arg562 of factor VIII. 8616046 1996
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE High factor VIII plasma levels have been shown to represent a common increased risk for venous thromboembolism (VTE) and may cause an activated protein C (APC) resistance in the absence of the factor V Leiden mutation, but there are no studies specifically aimed to establish if high factor VIII and von Willebrand factor (vWF) concentrations may influence the APC sensitivity ratio (APC-SR) and increase the risk for VTE in the presence of the factor V Leiden mutation. 10695766 1999
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE In AAs, rare coding PROC variants were not associated with VTE. 31680443 2020
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE In conclusion, high thrombin generation in the presence of APC, in women after a first event of VTE is indicative for an increased risk of a recurrence. 21947267 2011
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). 28861852 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Participants with a reduced response to activated protein C were at higher risk even if they did not carry the mutation (odds ratio, 1.7 [CI, 1.0 to 2.7]); the attributable risk for venous thromboembolism was 5.1%. 10215560 1999
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype LHGDN Protein C pathway in infants and children. 14517747 2003
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 AlteredExpression phenotype LHGDN Protein C, antithrombin, and venous thromboembolism incidence: a prospective population-based study. 12067914 2002
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Reduced plasma levels of APC or protein C (PC) are associated with an increased risk of venous thromboembolism. 31730817 2020
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Resistance to activated protein C (APC) is a risk factor for venous thromboembolism also in absence of the FV Leiden mutation. 11127861 2000
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Resistance to activated protein C (APC) has been demonstrated to be a risk factor for venous thromboembolism, but it is not known whether this phenotype is consistent over time. 15257714 2004
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Resistance to activated protein C (APC) is the most common defect found in patients who have venous thromboembolism. 9128263 1997
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Resistance to activated protein C (APC), which is almost exclusively caused by a point mutation in the factor V gene (FV:Q506 mutation or FV Leiden) is a recently discovered, prevalent risk factor for the occurrence of venous thromboembolism. 9763353 1998
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 GeneticVariation phenotype BEFREE Resistance to activated protein C (APCR) has emerged as the most important hereditary cause of venous thromboembolism. 8868517 1996