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 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 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 LHGDN These data indicate that individuals carrying the 4600AG genotype have high sEPCR levels but do not have an increased risk of thrombosis, whereas individuals carrying the 4678CC genotype have higher APC levels and lower risk of venous thromboembolism. 15116250 2004
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 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 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 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 GeneticVariation phenotype BEFREE The complex between activated protein C (APC) and the protein C inhibitor (PCI) is a sensitive indicator of the degree of activation of blood coagulation and higher concentrations have been measured in carriers of the FV Leiden mutation who were in the recovery phase after treatment for venous thromboembolism (VTE). 17499343 2007
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 GeneticVariation phenotype BEFREE Resistance to activated protein C (APCR) has emerged as the most important hereditary cause of venous thromboembolism. 8868517 1996
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 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 GeneticVariation phenotype BEFREE The combination of the PROC mutation with a PROS deficiency in two family members triggered venous thromboembolism at age 31 and 6 years, respectively. 11434940 2001
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 These data indicate that individuals carrying the 4600AG genotype have high sEPCR levels but do not have an increased risk of thrombosis, whereas individuals carrying the 4678CC genotype have higher APC levels and lower risk of venous thromboembolism. 15116250 2004
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 GeneticVariation phenotype BEFREE The activated protein C (APC) resistance phenotype associated with an abnormal factor V Leiden (FVL), and the G20210A prothrombin gene mutation are the most common findings in patients with venous thromboembolism (VTE). 12413582 2002