MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Congenital defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE Therefore, this meta-analysis explores the association between MTHFR polymorphisms and birth defects and adverse pregnancy outcomes. 30474229 2019
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (p < 0.05), mostly relating to the diseases of circulatory system, birth defects and cancers. 27888505 2017
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE C677T polymorphism of MTHFR gene was reported as risk factor for congenital defects, metabolic and neuropsychiatric disorders. 27025471 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE The methylenetetrahydrofolate reductase (MTHFR) gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD). 26990189 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE The polymorphism 677C>T (NM_005957.4:c.665C>T/rs1801133" genes_norm="4524">p.Ala222Val, rs1801133:C>T) in methylenetetrahydrofolate reductase (MTHFR) results in mild enzymatic deficiency and increased risk for several complex traits including adverse reproductive outcomes, birth defects, and heart disease. 24616178 2014
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 Biomarker group BEFREE Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of the folate/methionine metabolic pathway and it is well established fact that folate deficiency causes pregnancy complications like recurrent pregnancy loss, preeclempsia and birth defects affected pregnancies. 24970119 2014
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 PosttranslationalModification group BEFREE Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigenetic process of DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and cancers. 23653228 2013
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE The MTHFR genotype contributed to global DNA hypomethylation.Birth Defects Research (Part A), 2010.(c) 2010 Wiley-Liss, Inc. 20641100 2010
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. 18435414 2008
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE So far, only the MTHFR gene has been extensively investigated as a risk factor for CL/P, while little has been done to test genetic variations in the folate biosynthetic pathways that may influence the infant's susceptibility to these birth defects. 16470748 2006
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.100 GeneticVariation group BEFREE No significant associations were found between MTHFR polymorphisms and birth defects. 15210385 2004