Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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
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 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 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 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 Therapeutic phenotype CTD_human Tamoxifen-associated venous thrombosis and activated protein C resistance due to factor V Leiden. 9149031 1997
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.400 Biomarker phenotype CTD_human Tamoxifen-associated venous thrombosis and activated protein C resistance due to factor V Leiden. 9149031 1997
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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