Disease: Thrombophilia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease HPO
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 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 A novel genetic defect in factor V allowing for resistance to its cleavage by activated protein C has recently been implicated in a significant number of cases of familial thrombophilia. 9841693 1998
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 GeneticVariation disease BEFREE A point mutation in the factor V gene (FV Q506) renders factor V resistant to inactivation by activated protein C. The frequency of this mutation is known to be significantly increased in patients with thrombophilia. 8872815 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 AlteredExpression disease BEFREE A poor anticoagulant response to activated protein C (APC) in an activated partial thromboplastin time (aPTT) assay (APC resistance) was recently reported to be a cause of familial thrombophilia. 8180338 1994
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 Biomarker disease BEFREE A single point mutation in the gene coding for coagulation factor V results in a form of factor Va that is resistant to degradation by activated protein C and leads to a relative hypercoagulable state. 9382368 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease BEFREE Accordingly, the activated form of mutated factor V (FVa:Q506) is more slowly degraded by activated protein C than normal FVa (FVa:R506) is, resulting in hypercoagulability and a lifelong 5- to 10-fold increased risk of venous thrombosis. 9046944 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease BEFREE After activation, mutated factor V, FV:Q506, is less efficiently degraded by APC than normal factor V, which results in increased thrombin generation and a hypercoagulable state. 8578447 1995
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease BEFREE An abnormal anticoagulant response in vitro to activated protein C (aPC) has been proposed as an aetiological factor in familial thrombophilia. 7986734 1994
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 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 As a result, the activated protein C-mediated cleavage and inhibition of mutated Factor V (FV:Q506) is impaired, which leads to increased thrombin generation, a hypercoagulable state, and a life-long increased risk of thrombosis. 9372020 1995
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 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 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 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 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 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 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 Inherited resistance to activated protein C (APC) was recently recognized as a novel cause underlying venous thrombophilia. 7590506 1995
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease BEFREE Inherited resistance to activated protein C (APC) is a common disorder associated with hypercoagulability and lifelong risk of venous thrombosis. 8772620 1996
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 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