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: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.050 Biomarker disease BEFREE Homocysteine, methylenetetrahydrofolate reductase, folate status and atherothrombosis: A mechanistic and clinical perspective. 26111718 2016
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.050 GeneticVariation disease BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms, which are associated with hyperhomocysteinemia and nitric oxide (NO) deficiency (which is related to atherothrombosis and cerebral ischemia), have not been studied in moyamoya disease. 25098357 2014
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.050 GeneticVariation disease BEFREE Elevation in homocysteine and methylenetetrahydrofolate reductase (MTHFR) gene variants, C677T and A1298C, have been linked with atherothrombosis. 18204887 2009
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.050 GeneticVariation disease BEFREE We report a case of myocardial infarction at a young age in a subject heterozygous for the G20210A prothrombin gene variant and homozygous for the C677T MTHFR polymorphism, who presented a strong family history of atherothrombosis. 17920139 2008
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.050 GeneticVariation disease BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935 2002