Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE This is a first report of the concordance of homozygous MTHFR C677T mutation in an individual with factor V Leiden mutation. 8840466 1996
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis. 9490685 1998
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Factor V Leiden (G1691A), the prothrombin 3'-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci--determination of frequencies in the S. Wales population of the UK. 9609227 1998
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). 9890294 1999
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE No significant increased risk for venous thrombosis was found when MTHFR 1298 A --> C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --> A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --> T (OR 1.44, 95% CI 0.71-2.92). 10233437 1999
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5). 10365738 1999
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We investigated the prevalence of both the C677T MTHFR mutation and the factor V Leiden mutation in 81 patients with transient ischemic attack (TIA) or minor stroke (MS) and in 81 age- and sex-matched control subjects free from clinically manifest vascular disease. 9950259 1999
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Patients and control subjects were tested for antithrombin protein C and protein S deficiencies, the presence of antiphospholipid antibodies (APLA), factor V Leiden (FVL), G20210A polymorphism of factor II gene (FII G20210A), and C677T polymorphism of 5,10-methylenetetrahydrofolate reductase gene (C677T MTHFR). 10835445 2000
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE To investigate the potential perinatal effects of Factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase C677T polymorphism in preeclamptic women. 10877984 2000
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Determinations in blood samples of homocysteine concentrations; the occurrence of 677 C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene; protein C activities; activated protein C resistance ratios; concentrations of free protein S antigen; antithrombin III activities; and the occurrence of factor V Leiden mutation. 10847236 2000
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Molecular analysis for thrombophilic polymorphisms documented prothrombin G20210A mutation in 3/27 (11%), homozygosity for MTHFR C677T mutation in 5/27 (18.5%, and heterozygosity for factor V Leiden mutation in 5/27 (18.5%) children. 11505079 2001
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE 102 patients with two or more consecutive abortions and 128 women without miscarriage were analyzed for factor V Leiden mutation (FVL), prothrombin G20210A mutation (PTM), C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, glycoprotein IIIa (GPIIIa) C1565T polymorphism, and beta-fibrinogen G-455A polymorphism by polymerase chain reaction (PCR) techniques. 11506076 2001
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE This pilot study examined Factor V Leiden (R506Q), prothrombin (20210G-->A), thrombomodulin (A455V) and MTHFR (677C-->T) in 100 Zulu-speaking black South African women with placental abruption and 217 controls. 12066950 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The Factor V Leiden mutation (G1691A), and mutations in the prothrombin (G20210A) and 5,10-methylenetetrahydrofolate reductase (C677T) genes are common hereditary risk factors associated with venous thrombosis. 12490067 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been reported to be associated with recurrent pregnancy loss. 12042290 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE 6.9% of the patients were heterozygous for FVL, 5.7% were heterozygous for the prothrombin mutation, and 9.7% were homozygous for the MTHFR C677T mutation was detected in 9.7% of patients. 12115343 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Antiphospholipid antibodies, factor V Leiden (FVL) mutation, prothrombin mutation G20210A (PTHRA20210) and mutation TT677 of methylenetetrahydrofolate reductase (MTHFR C677T) were evaluated in all patients. 12170404 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE While factor V Leiden mutation was more common in women with pregnancy loss (25% vs. 7.6%), factor II G20210A and homozygosity for MTHFR C677T contributed to pregnancy loss only in the presence of other thrombophilia. 11821094 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE To investigate whether the factor V Leiden mutation (FVL), the prothrombin gene G20210A variant or the methylenetetrahydrofolate reductase (MTHFR) C677T genotype are risk factors for central nervous system (CNS) thrombosis or intraventricular hemorrhage (IVH) in neonates. 12477269 2002
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Homozygous mutations of the MTHFR gene (C677T) were found in six, factor-V Leiden mutation (homo- or heterozygous G1691A) in seven, and prothrombin mutation (20210A) in one patient (group 1). 14688517 2003
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia. 14746952 2004
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Maternal, paternal, and fetal DNA were genotyped for the methylenetetrahydrofolate reductase (MTHFR) C677T and Factor V Leiden (FVL) G1691A SNPs. 15097012 2004
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The adjusted OR for VTE was 7.10 (95% CI: 2.33-21.61) in women with factor V Leiden (G1691A) mutation, 2.83 (95% CI: 0.70-11.63) in women with prothrombin G20210A mutation and 0.26 (95% CI: 0.10-0.65) in women with the MTHFR C677T mutation. 15208046 2004
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE To analyze the prevalence of factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children with CP. 16382706 2005
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE MTHFR C677T Polymorphism and factor V Leiden mutation are not associated with recurrent spontaneous abortion of unexplained etiology in Japanese women. 16052395 2005