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 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 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 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 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
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.200 GeneticVariation disease BEFREE We compared clinical findings from patients with resistance to APC with or without the presence of factor V R506Q, and found that as a group, those with factor V R506Q had a higher incidence of hypercoagulability, but fewer additional risk factors for hypercoagulability. 9648899 1998
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 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 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 Activated protein C resistence (APCR) is a genetically determined cause of thrombophilia and DIC development. 16496494 2006
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 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 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 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 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 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 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 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 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