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 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 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 Biomarker disease BEFREE Resistance to activated protein C (APC) is the most common cause of familial thrombophilia. 8701918 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Inherited activated protein C (APC) resistance is a newly described pathological condition associated with familial thrombophilia. 8603014 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. We investigated linkage between APC resistance and the factor V gene in a large kindred with familial thrombophilia. 7911873 1994
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 AlteredExpression disease BEFREE As a result, inactivation of factor-activated factor V by APC is impaired, which leads to a hypercoagulable state and a lifelong increased risk of thrombosis. 9107093 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 GeneticVariation disease BEFREE It was recently found that aPL may cause the acquired activated protein C resistance phenotype, whereas in familial thrombophilia, activated protein C resistance frequently results from a point mutation in the factor V gene (replacing arginine 506 with a glutamine) that leads into the (R-506-Q), the so-called Leiden mutation, that produces a mutated factor V, resistant to the catalytic action of activated protein C, otherwise normal in its procoagulant properties. 8970058 1996
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 Mutated factor V (FVR506Q, FV:Q506 or FV Leiden) is partially resistant to APC which results in a hypercoagulable state conferring a life-long increased risk of thrombosis. 9198201 1997
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 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 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 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 The situation changed with the discovery of inherited resistance to activated protein C (APC) as a novel mechanism for familial thrombophilia. 7632412 1995
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE The median age at the first thrombotic event for 28 APC-resistant members of thrombophilia families was 29 years and for 50 protein C-deficient members of thrombophilia families 31.5 years. 8943855 1996
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 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 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 Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. 7902898 1994
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 HPO
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.200 Biomarker disease BEFREE Using an activated partial thromboplastin time (APTT) assay, Dahlback et al. recently reported that some individuals with thrombophilia show a poor in vitro anticoagulant response to activated protein C (APC-Resistance). 8873345 1996
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 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