Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Protein C deficiency is a heritable thrombophilia caused by numerous different genetic alterations in the protein C (PROC) gene. 31821907 2020
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family. 31295762 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE The heterozygous mutation locus c.565C>T on the PROC gene is associated with thrombophilia. 30210609 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Subsequently, it was demonstrated that a mutation in a single clotting factor, FV, showed resistance to activated protein C. Since activated protein C is supposed to downregulate aFV and aFVIII, their persistence in the circulation gives origin to a hypercoagulable state. 29063359 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Plasma hypercoagulability in the presence of thrombomodulin but not of activated protein C in patients with cirrhosis. 27421039 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Impairment of the anticoagulant protein C system occurs during endotoxemia and contributes to sepsis-associated hypercoagulability. 29285085 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 AlteredExpression disease BEFREE Conclusions FVBonn induces hypercoagulability via a combination of increased activation/procoagulant activity, decreased susceptibility to APC-mediated inactivation, and slightly reduced APC cofactor activity. 27090446 2016
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Whether APC dysfunction occurs in other Asian countries is an important aspect of mapping thrombophilia among Asians. 23301217 2013
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Thrombin generation assays sensitive to the APC- and TFPI-cofactor activities of protein S revealed similar hypercoagulable states in type I and type III protein S-deficient plasma. 20378562 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Thrombin generation assays sensitive to the activated protein C- and tissue factor pathway inhibitor-cofactor activities of protein S revealed similar hypercoagulable states in type I and type III protein S-deficient plasma. 20421270 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE One of the most common hereditary thrombophilias is the factor V Leiden mutation, which is identified with a screening assay for activated protein C (APC) resistance and confirmed by DNA analysis. 18854273 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Activated protein C resistence (APCR) is a genetically determined cause of thrombophilia and DIC development. 16496494 2006
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Activated protein C (aPC) resistance is a recognized hypercoagulable phenotype that is associated with increased risk for thrombosis in multiple clinical settings. 15562039 2004
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 AlteredExpression disease LHGDN Cigarette smoke dose-dependent hypercoagulability due to acquired activated protein C deficiency could contribute to the increased risk of thrombosis in smokers. 12482406 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Recently, a poor anticoagulant response to activated protein C (APC), due to a mutation of factor V (FV Leiden), has been identified as the most frequent hereditary disorder associated with venous thrombophilia. 12221665 2002
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE This mutation, defined as factor VLEIDEN, results in activated protein C (APC) resistance and is the most common genetic risk factor for familial thrombophilia. 11914653 2002
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Complexes between activated protein C and protein C inhibitor measured with a new method: comparison of performance with other markers of hypercoagulability in the diagnosis of deep vein thrombosis. 11776306 2001
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE Factor V is an important blood coagulation factor, the procoagulatory activity of which is inhibited by activated protein C. The factor V Leiden mutation is due to a single base-pair change (G1691A), which alters the initial cleavage site for activated protein C. The impaired degradation of factor V by activated protein C yields a hypercoagulable state that confers a lifelong increased risk of thrombosis in heterozygous and homozygous individuals. 11342806 2001
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE A resistance to the anticoagulant activity of activated protein C (APC), most frequently due to a point mutation in the Factor V gene (the Leiden mutation), represents the most common genetic cause of thrombophilia. 10874575 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE The cause of the BCS still being unknown, in October 1996 we performed extensive laboratory investigations concerning states of thrombophilia and found moderately elevated IgG anticardiolipin antibodies (19.7 U/ml) and a resistance against activated protein C caused by heterozygosity for a point mutation of the factor V gene (1691G-->A; factor V Leiden). 10378363 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE We compare results of factor V DNA analysis with three different clotting-based assays designed to detect activated protein C (APC) resistance (APCR), using samples from 958 patients undergoing assessment for thrombophilia. 10492912 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE In an attempt to investigate the prevalence of hypercoagulable states in patients with venous leg ulcers, we performed a prospective case-control study for the presence of coagulation defects in such patients, including resistance to activated protein C (APC), factor V Leiden mutation and a newly described mutation in factor II. 10468797 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE To evaluate the role of inherited thrombophilia in the development of central venous line (CVL)-related thrombosis, the following parameters were determined in 77 pediatric-oncologic patients with CVL: activated protein C (APC)-ratio, factor V (FV) G1691A and prothrombin G20210A mutation, protein C, protein S, antithrombin, coagulation factor XII, lipoprotein (a) and homocysteine. 10650856 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Inherited resistance to activated protein C (APC) has been recently recognized as a novel cause underlying venous thrombophilia. 9763354 1998
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE The factor V Leiden gene mutation decreases the sensitivity of factor V to the anticoagulant activity of activated protein C, and has been shown to be the most common inherited defect associated with a hypercoagulable state. 9625586 1998