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: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human In humans, severe hyperhomocysteinemia due to genetic alterations in cystathionine beta-synthase (Cbs) or methylenetetrahydrofolate reductase (Mthfr) results in neurological abnormalities and premature death from vascular complications. 19204075 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human In humans, severe hyperhomocysteinemia due to genetic alterations in cystathionine beta-synthase (Cbs) or methylenetetrahydrofolate reductase (Mthfr) results in neurological abnormalities and premature death from vascular complications. 19204075 2009
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human After MTX treatment, MTHFR-Tg mice exhibited the same decreases in hematological parameters as Mthfr-deficient mice, and significantly decreased thymidine synthesis (higher 2'-deoxyuridine 5'-triphosphate/2'-deoxythymidine 5'-triphosphate ratios) compared with wild-type mice, but they were protected from MTX-induced hyperhomocysteinemia. 18551038 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human Renal failure after high-dose methotrexate in a child homozygous for MTHFR C677T polymorphism. 17387702 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human In this study, we investigated the levels of serum folate, vitamin B-12 and Hcy in epileptic patients receiving carbamazepine (CBZ) or valproic acid (VPA) as monotherapy, and we also evaluated the probable contribution of the C677T variant of MTHFR gene in hyperhomocysteinemia. 18234410 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human After MTX treatment, MTHFR-Tg mice exhibited the same decreases in hematological parameters as Mthfr-deficient mice, and significantly decreased thymidine synthesis (higher 2'-deoxyuridine 5'-triphosphate/2'-deoxythymidine 5'-triphosphate ratios) compared with wild-type mice, but they were protected from MTX-induced hyperhomocysteinemia. 18551038 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human Renal failure after high-dose methotrexate in a child homozygous for MTHFR C677T polymorphism. 17387702 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human In this study, we investigated the levels of serum folate, vitamin B-12 and Hcy in epileptic patients receiving carbamazepine (CBZ) or valproic acid (VPA) as monotherapy, and we also evaluated the probable contribution of the C677T variant of MTHFR gene in hyperhomocysteinemia. 18234410 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human Methylenetetrahydrofolate reductase polymorphisms and homocysteine-lowering effect of vitamin therapy in Singaporean stroke patients. 16397167 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human Methylenetetrahydrofolate reductase polymorphisms and homocysteine-lowering effect of vitamin therapy in Singaporean stroke patients. 16397167 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? 16575899 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? 16575899 2006
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human The glycine N-methyltransferase (GNMT) 1289 C->T variant influences plasma total homocysteine concentrations in young women after restricting folate intake. 16317120 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human The glycine N-methyltransferase (GNMT) 1289 C->T variant influences plasma total homocysteine concentrations in young women after restricting folate intake. 16317120 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human Splenic thrombosis in three patients with moderate hyperhomocysteinemia, low folate and the C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene. 16411416 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human Splenic thrombosis in three patients with moderate hyperhomocysteinemia, low folate and the C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene. 16411416 2005
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human C677T polymorphism in methylenetetrahydrofolate reductase gene (MTHFR) is a major determinant of hyperhomocysteinemia, which results in endothelial dysfunction. 15226090 2004
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human C677T polymorphism in methylenetetrahydrofolate reductase gene (MTHFR) is a major determinant of hyperhomocysteinemia, which results in endothelial dysfunction. 15226090 2004
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Biomarker disease CTD_human Multiple logistic regression analysis showed that MTHFR TT genotype was an independent predictor of hyperhomocysteinemia in epileptic patients receiving anticonvulsants (phenytoin and carbamazepine but not valproic acid), suggesting that gene-drug interactions induce hyperhomocysteinemia. 10459572 1999
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.400 Therapeutic disease CTD_human Multiple logistic regression analysis showed that MTHFR TT genotype was an independent predictor of hyperhomocysteinemia in epileptic patients receiving anticonvulsants (phenytoin and carbamazepine but not valproic acid), suggesting that gene-drug interactions induce hyperhomocysteinemia. 10459572 1999