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 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 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 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 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 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 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 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 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 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 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 Therapeutic phenotype CTD_human Zymogen Protein C to prevent clotting without bleeding during invasive medical procedures. 21445774 2011
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 Biomarker phenotype CTD_human Zymogen Protein C to prevent clotting without bleeding during invasive medical procedures. 21445774 2011
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 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 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 AlteredExpression phenotype BEFREE The levels of circulating activated protein C reflect in-vivo protein C activation, and a low level of activated protein C is a risk factor for venous thromboembolism. 19129726 2009
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 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 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 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 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 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 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 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