MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group CTD_human The MTHFR CT polymorphism confers a high risk for stroke in both homozygous and heterozygous T allele carriers with Type 2 diabetes. 16681562 2006
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group CTD_human Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 15534175 2004
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group CTD_human Na VPA-induced acute ischemic stroke in an epileptic patient with methylenetetrahydrofolate reductase gene polymorphism. 19646848 2009
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 Biomarker group CTD_human Our findings indicate that the MTHFR 677C>T polymorphism may be associated with an elevated risk for CVD in ESRD patients, especially among Asians. 25050994 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 Biomarker group CTD_human The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea. 16958597 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human A haplotype of the methylenetetrahydrofolate reductase gene predicts poor tumor response in rectal cancer patients receiving preoperative chemoradiation. 17047490 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human K-Ras mutations and treatment outcome in colorectal cancer patients receiving exclusive fluoropyrimidine therapy. 18676755 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human Dietary factors and biomarkers involved in the methylenetetrahydrofolate reductase genotype-colorectal adenoma pathway. 17087956 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. 15608557 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human Dietary intake of folate and co-factors in folate metabolism, MTHFR polymorphisms, and reduced rectal cancer. 17245555 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human Expression and clinical significance of methylenetetrahydrofolate reductase in patients with colorectal cancer. 16512993 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence. 16985020 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.400 Biomarker group CTD_human MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer. 17350979 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.400 Biomarker group CTD_human Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. 16524890 2006
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.400 Biomarker group CTD_human Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice. 18551038 2008
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 Biomarker group CTD_human A significant association between the MTHFR C677T polymorphism and NTD susceptibility was revealed in our meta-analysis ( TT versus CC: OR= 2.022, 95% CI: 1.508, 2.712; CT+TT versus CC: OR = 1.303, 95% CI: 1.089, 1.558; TT versus CC+CT: OR= 1.716, 95% CI: 1.448, 2.033; 2TT+CT versus 2CC+CT: OR= 1.330, 95% CI: 1.160, 1.525). 23056169 2012
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.400 Biomarker group CTD_human Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. 18505952 2008
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.400 Biomarker group CTD_human DNA repair gene and MTHFR gene polymorphisms as prognostic markers in locally advanced adenocarcinoma of the esophagus or stomach treated with cisplatin and 5-fluorouracil-based neoadjuvant chemotherapy. 21347786 2011
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.400 Biomarker group CTD_human MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group CTD_human Breast cancer risk associated with multigenotypic polymorphisms in folate-metabolizing genes: a nested case-control study in Taiwan. 17595805 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group CTD_human Genetic polymorphisms of the methylenetetrahydrofolate reductase gene, plasma folate levels and breast cancer susceptibility: a case-control study in Taiwan. 16777985 2006
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.390 Biomarker group CTD_human Genetic polymorphism of folate and methionine metabolizing enzymes and their susceptibility to malignant lymphoma. 16799656 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.370 Biomarker group CTD_human Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer. 16284371 2005
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 Biomarker group CTD_human Association between polymorphisms of folate-metabolizing enzymes and risk of prostate cancer. 17967524 2008
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.330 Biomarker group CTD_human Folate-related genes and the risk of tobacco-related cancers in Central Europe. 17389614 2007