Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 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: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Activated Protein C Resistance is mainly associated to a factor V mutation (RQ506), which induces a deficient inactivation of activated factor V by activated protein C, and is associated to an increased risk of venous and arterial thrombosis in affected individuals, caused by the prolonged activated factor V survival. 29162399 2017
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE APCR describes the reduced inability of APC to cleave Factors Va and VIIIa, which therefore promotes increased thrombin generation and potentially leads to a prothrombotic state.APCR may be hereditary or acquired. 28804824 2017
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE In addition, elucidation of APC resistance resulted in the discovery of the anticoagulant APC cofactor activity of FV. 27161771 2016
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Results FVBonn conferred APC resistance to FV-depleted plasma, both in the activated partial thromboplastin time (APTT)-based test (APC sensitivity ratio [APCsr] of 1.98 for FVBonn versus 4.31 for WT FV and 1.59 for FV Leiden) and in the thrombin generation-based test (normalized APCsr of 5.41 for FVBonn versus 1.00 for WT FV and 8.99 for FV Leiden). 27090446 2016
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE Thrombophilic factors tested were: protein C (PC), protein S, antithrombin (AT), resistance to activated protein C (APCR), lupus anticoagulant (LA), factor V G1691A mutation (FV Leiden), prothrombin G20210A mutation, methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C mutations and plasminogen activator inhibitor-1 (PAI-1) gene 5G/4G and 4G/4G polymorphisms. 25656775 2015
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE In conclusion, relative to FVLeiden, the more potent APCR of FVNara resulted from significant loss of FVa susceptibility to APC and APC cofactor activity, mediated by possible failure of interaction with APC and/or protein S. 24523236 2014
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE '(super) FVa,' a combination of the A2-A3 disulfide (A2-SS-A3) to stabilize FVa and of APC-cleavage site mutations (Arg506/306/679Gln), had enhanced specific activity and complete APC resistance compared with wild-type FVa, FVL eiden (Arg506Gln), or FVaL eiden (A2-SS-A3). 24818532 2014
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE 366 breast cancer patients and 307 controls were genotyped for SNPs (n = 41) in the F2, F3 (TF), F5, F7, F10, TFPI and EPCR genes, and assayed for plasma coagulation markers (thrombin generation, activated protein C (APC) resistance, D-dimer, antithrombin, protein C, protein S, and TF pathway inhibitor (TFPI)). 25407022 2014
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Addition of activated protein C (APC) to the aPTT test to produce a ratio, provides one measure of APC resistance. 23188048 2013
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE APC resistance was originally discovered in thrombophilic families and later shown to be associated with the common FV Arg506Gln (FV(Leiden)) mutation, which abolishes one of the APC-cleavage sites in FV. 20002539 2010
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE The pathophysiological importance of this anticoagulant mechanism is illustrated by the severe prothrombotic diathesis associated with the congenital deficiencies of protein C and its cofactor protein S. A poor anticoagulant response of plasma to APC (APC resistance) was first described in a thrombotic patient in 1993 and soon recognized as the most common risk factor for venous thrombosis. 19947358 2009
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Prevalence of resistence to activated protein C (APC-resistance) in blood donors in Kosovo. 20002000 2009
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease LHGDN Compared with normal controls, patients had a lower endogenous thrombin potential in the absence of APC but had a higher endogenous thrombin potential in the presence of APC, showing the occurrence of APC resistance. 18768782 2008
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Compared with normal controls, patients had a lower endogenous thrombin potential in the absence of APC but had a higher endogenous thrombin potential in the presence of APC, showing the occurrence of APC resistance. 18768782 2008
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE Four functional plasma assays probing both components of APC resistance (susceptibility of FVa to APC and cofactor activity of FV in FVIIIa inactivation) were employed to compare seven clinically and genetically characterized FV Leiden pseudo-homozygotes to 30 relatives with different FV genotypes (including 12 FV Leiden heterozygotes and seven carriers of FV deficiency) and to 32 unrelated FV Leiden homozygotes. 16359508 2005
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Study of the mechanism of APC resistance has revealed that coagulation FV stimulates the APC-catalysed inactivation of FVIIIa, and that this anticoagulant function of FV is impaired in FV Leiden. 15257017 2004
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease LHGDN Poor susceptibility to APC and impaired APC cofactor activity contributed equally to FV(Leiden)-associated APC resistance, whereas FV(R2)-associated APC resistance was entirely due to the reduced APC cofactor activity of FV(R2). 14976057 2004
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 AlteredExpression disease BEFREE Poor susceptibility to APC and impaired APC cofactor activity contributed equally to FV(Leiden)-associated APC resistance, whereas FV(R2)-associated APC resistance was entirely due to the reduced APC cofactor activity of FV(R2). 14976057 2004
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE In a subgroup of subjects previously investigated for heritability of the APC resistance, we confirmed the APC resistance phenotype in seven of 39 (17.9%) subjects with an APC resistant sibling but only in 20 of 408 (4.9%) subjects without a sibling with the same phenotype (P = 0.005). 15257714 2004
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE All APC-resistant women (n = 270) included in a prior study on APC resistance and pregnancy (n = 2480) were invited by written questionnaire to describe their reactions to having APC resistance, how this had changed their lives, and how they experienced our information. 12752078 2003
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE The aim of the study was to determine if carriership of the factor V (FV) Leiden mutation (activated protein C [APC] resistance) is higher in women who have had of placental abruption during pregnancy. 12742330 2003
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE The 2 FV variants yielded identical APC resistance patterns, with APC responses being intermediate to those of wild-type FV and FV Leiden (Arg506Gln), which is known to be associated with the APC resistance phenotype. 12091344 2002
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 Biomarker disease BEFREE The activated protein C sensitivity ratio was expressed as the ratio of activated partial thromboplastin times measured in the presence and absence of activated protein C; a ratio <2.0 in patients who did not have factor V Leiden was considered to indicate acquired activated protein C resistance. 11165549 2001
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.100 GeneticVariation disease BEFREE Conventional, modified and extended activated protein C (APC) resistance assays in this patient and his family members clearly showed that factor V Arg306 --> Gly mutation is not associated with APC resistance (APC sensitivity ratio <2). 11246546 2001