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: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 GeneticVariation disease BEFREE Roles of 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in early- and late-onset obsessive-compulsive disorder. 30992611 2020
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
0.010 GeneticVariation disease BEFREE MTHFR A1298C polymorphism is associated with saccade latency in SCA2 patients, but not with disease risk, age at onset or maximal saccade velocity. 31812845 2020
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.010 PosttranslationalModification disease BEFREE In particular, we assessed the impact of MTHFR as rate-limiting enzyme in DNA methylation pathways, which modulates cerebellar neurotransmission and motor neuron atrophy. 31812845 2020
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: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 GeneticVariation group BEFREE In addition, there was no statistically significant association between MTHFR C677T polymorphism and viral infection, even considering hr-HPV or HPV 16 positivity. 31170928 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
CUI: C0263725
Disease: Hemophilic arthropathy
Hemophilic arthropathy
0.010 GeneticVariation disease BEFREE The distribution of risk genotypes for MTHFR and TNFα-308GA suggests their association with clinical parameters of hemophilic arthropathy. 31566926 2019
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies
0.010 GeneticVariation group BEFREE Among patients with diabetic polyneuropathy, the status of folic acid, homocysteine, and nerve conduction studies (NCS) variations has been associated with methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. 31143237 2019
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction
0.010 GeneticVariation disease BEFREE The aim was to analyze the relationship between the C677T and A1298C polymorphisms of MTHFR, Hcy levels, and prothrombotic biomarkers in pulmonary embolism (PE) and acute myocardial ischemia (AMI). 29916259 2019
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia
0.010 GeneticVariation disease BEFREE The aim was to analyze the relationship between the C677T and A1298C polymorphisms of MTHFR, Hcy levels, and prothrombotic biomarkers in pulmonary embolism (PE) and acute myocardial ischemia (AMI). 29916259 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: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
0.010 GeneticVariation disease BEFREE The C/C genotype of MTHFR rs1801131 is more likely to be a genetic risk factor for colorectal polyps in the UK region, although this finding should be verified with a larger sample size. 31146742 2019
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic
0.010 GeneticVariation disease BEFREE We found 4 positive sites for HFS in the TYMS and MTHFR genes: TYMS rs2606241 (P = 0.022), TYMS rs2853741 (P = 0.019), MTHFR rs3737964 (P = 0.029), and MTHFR rs4846048 (P = 0.030). 31601265 2019
CUI: C3826462
Disease: Depression in children
Depression in children
0.010 PosttranslationalModification disease BEFREE Serum cholesterol, MTHFR methylation, and symptoms of depression in children. 31621343 2019
Neonatal thrombosis of cerebral venous sinus
0.010 GeneticVariation disease BEFREE The Role of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Mutations in Neonatal Cerebral Sinovenous Thrombosis. 31025572 2019
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
0.010 GeneticVariation disease BEFREE MTHFR rs1801133: C>T was more prevalent in BWS with KCNQ1OT1 TSS-DMR LOM (p < 0.017); however, the relationship was not significant when the Bonferroni correction for multiple testing was applied (significance, p = 0.0036). 30165906 2018
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.010 GeneticVariation group BEFREE In addition, significant interaction effects between childhood abuse experiences and the COMT and MTHFR genetic variants on the development of male homosexuality were found. 29289372 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 GeneticVariation disease BEFREE Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C. 30131855 2018
CUI: C0018081
Disease: Gonorrhea
Gonorrhea
0.010 GeneticVariation disease BEFREE Researches exploring MTHFR polymorphisms C677T's relationship with the clinical outcomes (response rate, overall survival and toxicity) of GC patients treated with 5-Fu based chemotherapy were included. 29581785 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.010 GeneticVariation disease BEFREE However, frequency of MTHFR C677T genotype, CT (53% vs. 20%; p < 0.001) and TT (15% vs. 2%; p < 0.05) was significantly higher in SAH group as compared to healthy controls. 29926428 2018
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.010 AlteredExpression phenotype BEFREE We present the case of a patient with reduced <i>COMT</i> and <i>MTHFR</i> expression treated with leucovorin 10 mg daily for the management of chronic pain. 29317847 2018
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.010 Biomarker disease BEFREE Using logistic regression with age and height as covariates, and uncorrected empirical p-values, genetic variation in SLC28A1, SAMHD1, MTHFR and RRM2B was associated with SN in South Africans using d4T. 30273369 2018
CUI: C0221065
Disease: Subacute Combined Degeneration
Subacute Combined Degeneration
0.010 GeneticVariation disease BEFREE Methylenetetrahydrofolate Reductase (<i>MTHFR</i>) C677T Polymorphism and Subacute Combined Degeneration: Revealing a Genetic Predisposition. 30687218 2018
CUI: C0221166
Disease: Paraparesis
Paraparesis
0.010 GeneticVariation phenotype BEFREE Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report. 30544400 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 GeneticVariation disease BEFREE However, the less common haplotype MTHFR T-C was more frequent in young patients and in familial breast cancer, while MTHFR C-C haplotype was associated with sporadic BC form. 29544444 2018