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 Newborn screening cards of 883 Caucasian babies born in South Australia in 1986-1999 were de-identified and tested for the following inherited thrombophilic polymorphisms: factor V Leiden (G1691A), prothrombin gene mutation (G20210A), methylenetetrahydrofolate reductase gene (MTHFR) C677T and A1298C, as well as compound heterozygosity for the MTHFR polymorphisms. 16028846 2005
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 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 The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial. 16651869 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The allele frequencies of FVL (2%), PTG (2%) and MTHFR C677T (31%) were similar between cases and controls. 16431900 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included. 17003923 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. 16574759 2006
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE In the idiopathic renal disease group, three of the 17 patients (17.6%) had prothrombin G20210A mutation, two of the 17 patients (11.8%) had the factor V Leiden mutation, and five of the 17 (29.4%) were homozygous for the MTHFR C677T polymorphism. 16760910 2006
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 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 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 We report the case of a male newborn with left RVT and associated homozygosity for both factor V Leiden (G1691A) and methylenetetrahydrofolate reductase C677T mutations in addition to elevated serum lipoprotein (a).The patient was treated with heparin. 19542880 2009
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Both, MTHFR C677T and FVL were not found to be significantly more prevalent in patients than controls as a whole. 19839754 2009
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE In the present study, we have focused on the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T, dihydrofolate reductase (DHFR) 19-bp deletion within intron 1, factor V Leiden (FVL), and prothrombin (PT) G20210A polymorphisms in cancer patients with and without VTE. 18682947 2009
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The major genetic risk factor in our series of patients was homozygosity for the MTHFR C677T mutation (7 out of 48 patients); three more patients were found to be heterozygous for the Factor V Leiden mutation. 19432826 2009
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 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 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 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 All the five children were found to be heterozygote for the C677T MTHFR mutation and a child presented also heterozygosity for factor V Leiden mutation. 22193714 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the MTHFR gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured. 22098125 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G→A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study. 22924497 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. 22047507 2012
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