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 We conclude that a low level of circulating APC in individuals without any of the most recognized thrombophilic defects is a prevalent, independent risk factor for VTE, and that it predisposes to recurrent VTE. 11776301 2001
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 Seven SNPs (F5 rs6025, F2 rs1799963, ABO rs514659, FGG rs2066865, F11 rs2289252, PROC rs1799810 and KNG1 rs710446) with four SNP-SNP interactions contributed to the genetic risk score for VTE, with an AUC of 0.66 (95% CI, 0.64-0.68). 25472531 2015
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 We investigated in case-control studies both biological effects (FVIII levels and activated protein C sensitivity ratio) and clinical associations (venous thromboembolism) of the D1241E change. 15735794 2005
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 GeneticVariation phenotype BEFREE The genetic defect of coagulation factor V known as factor V Leiden produces a resistance to degradation by activated protein C (APC) and increases the risk of venous thromboembolism. 10590188 2000
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 Biomarker phenotype BEFREE Therefore, more data are needed from various populations of patients with venous thromboembolism to help decide which patients will benefit from screening for resistance to APC. 8637344 1996
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 The p.R147W mutation, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan of the PROC gene has been reported as a common mutation in Taiwanese populations with venous thromboembolism (VTE). 28511552 2018
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 Biomarker phenotype BEFREE These complexes as well as circulating APC were also measured in 121 patients with a history of venous thromboembolism (VTE) and 119 matched controls. 29448296 2018
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 GeneticVariation phenotype BEFREE Several low-frequency genetic mutations, PROS1 p.Lys196Glu in Japanese and PROC p.Arg189Trp and p.Lys193del in Chinese, are significantly associated with increased risk for VTE, with odds ratio more than 2 through the reduced protein C anticoagulant activity. 24233386 2014
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 AlteredExpression phenotype BEFREE The THBD 1418T allele is associated with lower soluble TM, both in plasma and in HUVEC-conditioned medium, and with an increase in functional membrane-bound TM in HUVEC, which could explain the increased activated protein C levels and the reduced VTE risk observed in individuals carrying this allele. 23520161 2013
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 Biomarker phenotype BEFREE The HR2 haplotype was associated with significantly lower APC ratios both in patients with venous thromboembolism and in age- and sex-matched controls. 9269773 1997
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 Biomarker phenotype BEFREE The endogenous thrombin potential (ETP) showed a striking inter-individual variability among different FV Leiden carriers and, especially when measured in the presence of APC, correlated with VTE risk. 24226152 2014
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 Biomarker phenotype BEFREE We conclude that HRT diminishes the efficacy by which APC downregulates in-vitro thrombin formation in a similar fashion to that observed with low-dose oral contraceptives, but the increase in nAPCsr alone is not sufficient to explain the increased risk of VTE associated with use of HRT. 11703344 2001
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 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 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 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 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 We investigated the risk of recurrence of venous thromboembolism in APC resistant patients heterozygous for FV Leiden and compared these patient groups with a group of patients, who had a history of venous thromboembolism, but had neither APC resistance nor the FV Leiden mutation. 8815565 1996