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
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Pooled results presented that MTHFR C677T polymorphism was significantly associated with T2DM under homozygous (OR = 1.64, 95% CI = 1.39-1.94), heterozygous (OR = 1.38, 95% CI = 1.20-1.59), recessive (OR = 1.41, 95% CI = 1.23-1.61), dominant (OR = 1.47, 95% CI = 1.27-1.70), and allele (OR = 1.37, 95% CI = 1.23-1.52) genetic models. 31663297 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
0.050 Biomarker phenotype BEFREE Third, higher age 7 MTHFR DNAm associated with higher initial symptoms of depression symptoms at age 8, again at a small effect size. 31621343 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE MTHFR polymorphisms could be used as a diagnostic marker for autism with respect to ethnicity background. 31614268 2019
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.090 GeneticVariation disease BEFREE Recurrent Myocardial Infarction Despite Normal C-reactive Protein in a Patient with Behcet's Disease and Compound Heterozygous Methylenetetrahydrofolate Reductase (MTHFR) Mutations (C677T and A1298C). 31602349 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.030 GeneticVariation disease BEFREE This is the first report of recurrent thrombotic acute coronary syndrome (ACS) in a patient with diabetes, compound heterozygous MTHFR mutations, Behcet's disease with normal C-reactive protein (CRP), and no evidence of diffuse coronary artery disease. 31602349 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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE To determine prevalence of methylenetetrahydrofolate reductase (MTHFR) mutations in apparently healthy individuals residing in Mumbai and patients with deep vein thrombosis (DVT) and coronary artery disease (CAD) and to correlate these polymorphisms with homocysteine (Hcy) levels. 31571711 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE To determine prevalence of methylenetetrahydrofolate reductase (MTHFR) mutations in apparently healthy individuals residing in Mumbai and patients with deep vein thrombosis (DVT) and coronary artery disease (CAD) and to correlate these polymorphisms with homocysteine (Hcy) levels. 31571711 2020
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: C4048328
Disease: cervical cancer
cervical cancer
0.400 GeneticVariation disease BEFREE Association of MTHFR 677C>T Polymorphism with Susceptibility to Ovarian and Cervical Cancers: A Systematic Review and Meta-Analysis. 31554347 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Our study has not shown a significant association between MTHFR gene polymorphisms and breast cancer risk. 31523170 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Our study has not shown a significant association between MTHFR gene polymorphisms and breast cancer risk. 31523170 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Our investigation revealed that the 5,10-MTHFR 677 C/T and 5,10-MTHFR 677T/T genotypes are associated with susceptibility to pediatric ALL (OR = 1.9, 95% IC = 1.36-12.09, p = 0.012 and OR = 2.8, 95% CI = 1.49-22.82, p = 0.011, respectively). 31499477 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.400 GeneticVariation disease BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Screening for MTHFR polymorphisms in addition to homocysteine levels may be considered for patients presenting with premature CAD and a normal lipid profile. 31497444 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.100 GeneticVariation disease BEFREE Our case demonstrates the association of MTHFR polymorphism with premature CAD and myocardial infarction (MI) despite normal homocysteine levels. 31497444 2019
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease BEFREE Association of the MTHFR 677C>T Polymorphism with Obesity and Biochemical Variables in a Young Population of Mexico. 31496910 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE In this study, we aim to verify the correlation between MTHFR polymorphisms and clinical features of schizophrenia, while exploring the differential genomic methylation and disease related genes as the potential targets for schizophrenia. 31476590 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation disease BEFREE A meta-analysis on associations of FTO, MTHFR and TCF7L2 polymorphisms with polycystic ovary syndrome. 31470081 2020
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation disease BEFREE For MTHFR C677T and A1298C, significant association with PCOS was observed in the combined population and Asian population. 31454542 2019
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.070 GeneticVariation disease BEFREE No statistically significant differences were observed in genotype or allele frequencies between the pre-eclampsia and normal control for the C677T polymorphism of MTHFR gene (<i>p</i> > .05). 31452430 2019