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 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 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 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 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 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 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 Mutated factor V is activated by thrombin or factor Xa in the normal way, but impaired inactivation of mutated factor Va by activated protein C results in a life-long hypercoagulability. 8839395 1995
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 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 GeneticVariation disease BEFREE Recently a point mutation (G1691A) in the coagulation factor V gene was shown to cause resistance for cleavage by activated protein C. The mutation is associated with an increased thrombotic risk and thus-far the most common genetic cause of thrombophilia. 8607109 1995
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 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 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 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 Mutated factor V (FV:Q506) is activated by thrombin or factor Xa in normal way, but impaired inactivation of mutated factor Va by APC results in life-long hypercoagulability. 8624369 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 GeneticVariation disease BEFREE Therefore, by measuring F1+2 and TAT a state of biochemical hypercoagulability has been identified in about one-third of APC-resistant individuals. 8725708 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 Biomarker disease BEFREE Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state. 8815575 1996
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 GeneticVariation disease BEFREE Resistance to activated protein C (APC) is the most frequent cause of inherited thrombophilia. 8637344 1996
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 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 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 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