MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 GeneticVariation disease BEFREE Variations of the 5, 10- methylenetetrahydrofolate reductase (MTHFR) gene -the main genetic determinant of hyperhomocystenemia in humans-as well the interferon regulatory factor-8 (IRF8), FcγRIIA and BAFF genes have been all linked to subclinical atherosclerosis in SLE. 31444033 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 GeneticVariation disease BEFREE Variations of the 5, 10- methylenetetrahydrofolate reductase (MTHFR) gene -the main genetic determinant of hyperhomocystenemia in humans-as well the interferon regulatory factor-8 (IRF8), FcγRIIA and BAFF genes have been all linked to subclinical atherosclerosis in SLE. 31444033 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.080 GeneticVariation disease BEFREE Variations of the 5, 10- methylenetetrahydrofolate reductase (MTHFR) gene -the main genetic determinant of hyperhomocystenemia in humans-as well the interferon regulatory factor-8 (IRF8), FcγRIIA and BAFF genes have been all linked to subclinical atherosclerosis in SLE. 31444033 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.040 GeneticVariation disease BEFREE The present study evaluated the plasma Hcy level, MTHFR C677T gene polymorphism, effect of folic acid (FA) supplementation' and hemato-biochemical parameters in SCA and their effect on the vaso-occlusive crisis (VOC) in SCA patients of an Asian-Indian haplotype population. 31440871 2019
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis
0.010 GeneticVariation disease BEFREE The present study evaluated the plasma Hcy level, MTHFR C677T gene polymorphism, effect of folic acid (FA) supplementation' and hemato-biochemical parameters in SCA and their effect on the vaso-occlusive crisis (VOC) in SCA patients of an Asian-Indian haplotype population. 31440871 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Association Between MTHFR Genetic Polymorphism and Parkinson's Disease Susceptibility: A Meta-analysis. 31428686 2019
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion
0.100 GeneticVariation disease BEFREE <b>Background</b>: To study the association of the most common methylenetetrahydrofolate reductase (<i>MTHFR</i>) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population. 31418317 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 GeneticVariation disease BEFREE Methylenetetrahydrofolate Reductase Gene C677T and A1298C Polymorphic Sequence Variations Influences the Susceptibility to Chronic Myeloid Leukemia in Kashmiri Population. 31396477 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.400 GeneticVariation disease BEFREE Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed. 31389788 2019
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 GeneticVariation disease BEFREE Polymorphisms of MTHFR were observed in 75% and 56% and the PAI1 -675 5G/4G polymorphism in 100% and 83% of patients with and without HHCE, respectively. 31389788 2019
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.030 GeneticVariation phenotype BEFREE In specific mouse models and embryo culture systems, we assessed the effects of combining maternal diabetes with mutations in genes involved in folate transport and metabolism (methylenetetrahydrofolate reductase [Mthfr] and folic acid receptor 1 [Folr1]). 31361376 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE MTHFR and ABCC2 polymorphisms showed an association with either epilepsy types in general or subtypes and treatment response among Jordanian population. 31354331 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Databases, including Medline, EMBASE, Cochrane and Chinese databases (including CNKI, Wanfang and VIP), were searched to identify the relevant articles describing MTHFR polymorphisms in patients with CRC. 31330573 2019
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Methylenetetrahydrofolate reductase polymorphisms and colorectal cancer prognosis: A meta-analysis. 31330573 2019
CUI: C4552766
Disease: Miscarriage
Miscarriage
0.100 GeneticVariation disease BEFREE The aim of this study was to investigate the association between of MTHFR C677T, A1298C, F2G20210A, and F5 G1691A genetic variants among Iranian women with recurrent miscarriage. 31317253 2019
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.390 GeneticVariation disease BEFREE Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis. 31303355 2019
Cleft Lip with or without Cleft Palate
0.100 GeneticVariation disease BEFREE Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are thought to be involved in the development of cleft lip with or without cleft palate (NSCL/P), but published results are contradictory. 31303355 2019
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
0.050 GeneticVariation phenotype BEFREE Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis. 31303355 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE The three major MTHFR genotypes (G1793A, C677T, and A1298C) were examined in all subjects and the association between MTHFR polymorphism and clinical features of schizophrenia was analyzed. 31302825 2019
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood
0.010 GeneticVariation disease BEFREE Inconsistent with expectations, no significant associations were found between MTHFR C677T polymorphism and schizophrenia in children. 31302825 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation. 31300468 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation disease BEFREE The correlation between methylenetetrahydrofolate reductase (<i>MTHFR</i>) polymorphisms and hepatocellular carcinoma (HCC) remains controversial. 31282757 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 AlteredExpression group BEFREE Some common genes that are included in nutrition-based multigene test panels include CYP1A2 (rate of caffeine break down), MTHFR (folate usage), NOS3 (risk of elevated triglyceride levels related to omega-3 fat intake), and ACE (blood pressure response in related to sodium intake). 31254340 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.050 GeneticVariation disease BEFREE However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma. 31242814 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 GeneticVariation disease BEFREE However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma. 31242814 2019