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 From 2008 to 2017, all 26 consecutive newborn infants ≥35 weeks of gestation diagnosed with neonatal CSVT, and their mothers, were tested for factor V Leiden (FV) G1691A, FII G20210A, and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations. 31025572 2019
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 Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). 26891731 2016
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 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 The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788). 25699610 2015
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 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 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
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. 23795816 2013
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 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 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 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 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