Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE DNA analysis confirmed the presence of the 1691GA mutation in the factor V gene (factor V Leiden) in all patients with a normalized APC sensitivity ratio of less than 0.70. 7740584 1995
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden). 7888671 1995
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE We determined activated partial-thromboplastin times in the presence and absence of activated protein C and tested for the factor V Leiden mutation in 45 members of seven unrelated consanguineous kindreds in which at least 1 member was homozygous for homocystinuria. 8592550 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE Resistance to APC is associated with a single nucleotide change in the factor V gene (G1691-->A) corresponding to a single amino acid substitution in the factor V molecule: Arg506-->Gln (factor V Leiden). 8639839 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE To investigate the association of both response to APC and the factor V Leiden mutation with arterial disease. 8678388 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE There was considerable overlap in APC ratios in the range of 2 to 3 between subjects with a normal factor V genotype and heterozygotes for factor V Leiden. 8701918 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Children found resistant to activated protein C had DNA analysis for the factor V Leiden mutation. 8774498 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE Activated protein C (APC) resistance is a common risk factor for venous thromboembolism and is associated with the replacement of Arg 506 by Gln in the factor V gene (factor V Leiden). 8815565 1996
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE The molecular basis of APC resistance is a single-point mutation (arginine506-glutamine) in the gene that encodes for coagulation factor V. This mutation results in a factor V molecule (factor V(Leiden)) that is less effectively downregulated by APC than is normal factor V. The gold standard for the detection of this defect is DNA analysis. 9128263 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Women who used third-generation monophasic OC were significantly less sensitive to APC than women using second-generation OC (P<0.001) and had APC-sr that did not significantly differ from heterozygous female carriers of factor V(Leiden) who did not use OC. 9136971 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Regulation of thrombin formation by activated protein C: effect of the factor V Leiden mutation. 9241709 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE The relationship between the distribution of normalized APC ratios obtained with the functional assay and haplotype frequency was analyzed in patients heterozygous for factor V R506Q (factor V Leiden). 9269773 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Resistance to activated protein C (APC), resulting from the factor V Leiden mutation, is a common risk factor for venous thrombosis. 9308555 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Original research articles were reviewed if they addressed the identification of the laboratory abnormality of activated protein C or factor V Leiden mutation. 9382368 1997
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). 9499670 1998
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE This study examined the anticoagulant response to activated protein C (APC ratio) in relation to the surgical trauma and the significance of the factor V Leiden mutation in determining postoperative thrombin generation and fibrin formation and the risk of early vein graft occlusion. 9716141 1998
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE The well-recognized inherited thrombophilic states include resistance to activated protein C (APC) (Factor V Leiden) and deficiencies of plasma antithrombin, protein C, and protein S. These entities are aberrations in the natural anticoagulant systems that exist in plasma and at the endothelial cell level. 9840687 1998
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 AlteredExpression disease BEFREE In over 90% of cases, the basis for the APC resistance is a mutation in the coagulation factor V gene (factor V Leiden) that renders the protein more resistant to inactivation by APC. 9842043 1998
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Activated protein C (APC) resistance caused by the factor V Leiden mutation is associated with an increased risk of venous thrombosis. 9949170 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Resistance to APC due to factor V Leiden mutation was only one facet of this relationship. 9950657 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE The aim of this study was to evaluate critically the recently modified activated-partial-thromboplastin-time (APTT)-based activated protein C (APC)-resistance tests, which are more specific for the factor V Leiden mutation than the first generation APC-resistance tests. 10070830 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Plasma samples from healthy men, from healthy female users and nonusers of oral contraceptives, and from heterozygous and homozygous male and female carriers of the factor V Leiden mutation (some of whom used oral contraceptives) were tested for their sensitivity to activated protein C by means of a new activated protein C resistance test developed in our laboratory. 10368524 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation disease BEFREE Activated protein C (APC) resistance, defined as a low APC ratio, is associated with the factor V mutation R506Q (factor V Leiden). 10404768 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE Abnormal APC ratios were confirmed to be due to FVL using a heteroduplex-based polymerase chain reaction (PCR) technique. 10563542 1999
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 Biomarker disease BEFREE In the present study a new clotting assay for the detection of an increased resistance of coagulation factor V against degradation by activated protein C (Factor V Leiden mutation, FVLM) was evaluated. 10574590 1999