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 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 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 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 The three genes were involved in thrombophilia: factor V Leiden (G1691A), prothrombin (G20210A), Methylenetetrahydrofolate Reductase (MTHFR C677T) and one in hypofibrinolysis: Tissue Plasminogen Activator (PLAT TPA25 I/D). 24025446 2013
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 Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden (FVL), prothrombin (PT) 20210 G>A, 5-10 methylenetetrahydrofolate reductase (MTHFR) 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 (PAI-1 4G/5G), and factor V HR2 (FVHR2) haplotype. 19838435 2009
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India. 23869056 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The presence of a variant allele for the 677C --> T MTHFR polymorphism strengthened the association between FVL and stillbirth (OR 3.34, 95%CI 1.95-5.73) (p(interaction) = 0.034). 16613994 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. 16906320 2006
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 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 Patients with beta-TM have insignificantly higher frequencies of mutant A allele in factor V Leiden G1691A (11.5 vs. 10.5%), mutant T allele in MTHFR C677T (21.5 vs. 21%) and mutant A allele in prothrombin G20210A (3 vs. 2.5%) than controls. 19710606 2009
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Further, in contrast to reports from other investigators, we found little evidence for association of a C677T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene, the angiotensin-I-converting enzyme 1 insertion/deletion polymorphism, a 4G/5G polymorphism in the serine/cysteine proteinase inhibitor-clade E-member 1 gene, the factor V Leiden mutation, the G20210A factor II mutation, a -455G>A polymorphism in the beta-fibrinogen gene, the cys112arg/arg158cys apolipoprotein E gene polymorphism, a gly460trp polymorphism in the alpha-adducin gene, and a -629C>A polymorphism in the cholesteryl ester transfer protein gene with risk of MI. 16420563 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Plasma homocysteine, vitamin B12, folate, creatinine, and protein C levels were measured in all study subjects upon enrollment, and genotyping for the C677T and A1298C polymorphisisms of the methylenetetrahydrofolate reductase (MTHFR) gene and for factor V Leiden (FVL) mutations was performed as well. 20935614 2010
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Although a clear association has been established between fetal loss and certain thrombophilic states, such as antiphospholipid antibody syndromes, antithrombin deficiency, and combined defects, reports on the prevalence of inherited prothrombotic defects such as factor V Leiden mutation and methylene tetrahydrofolate reductase C677T polymorphism in fetal loss are contradictory. 18160599 2008
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
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the association of prothrombotic gene polymorphisms [factor V Leiden (FVL) 1691GA, factor VII (FVII) 10976GA, FVII HVR4, platelet membrane glycoproteins GP1BA 1018CT, GP1BA VNTR, integrin ITGB3 1565TC, integrin ITGA2 807CT and methylenetetrahydrofolate reductase (MTHFR) 677C/T], plasma factors (fibrinogen and homocysteine) and traditional risk factors with acute myocardial infarction (AMI) in 184 patients ≤ 40 years of age and 350 controls (≤ 40 years) from north India. 22535530 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Three common polymorphic variants, namely Factor V Leiden (FVL), Prothrombin G20210A (PT G20210A) and Methylenetetrahydrofolate Reductase (MTHFR) C677T are candidate genes for venous thromboembolism (VTE) in pregnancy. 26115054 2015
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 Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate-severe hemophilia A (n = 51) and controls (n = 25). 22411997 2014
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 The prevalence of G1691A Factor V Leiden mutation (odds ratio [OR]=0.64; 95% confidence interval [CI]: 0.04-10.5), G20210A Factor II mutation (OR=0.63; 95% CI: 0.12-3.28) and C677T MTHFR homozygous polymorphism (OR=1.13; 95% CI: 0.47-2.72) did not differ significantly among patients with or without ST. 22665071 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism has a very high prevalence compared with the low prevalence of anticoagulant protein deficiency and factor V Leiden mutation in Mexicans. 26825628 2016
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen (AGT) T704C, methylenetetrahydrofolate reductase (MTHFR) C677T and factor V Leiden (FVL) G1691A polymorphisms with pre-eclampsia (PE) in North Indian women. 21564405 2011
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We determined whether the presence of the factor prothrombin gene G20210A variant, factor V gene G1691A mutation (factor V Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms may be risk factors for vascular complications in individuals with SCD. 23992124 2013