MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Spina Bifida ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.500 GeneticVariation disease BEFREE These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 8826441 1996
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.500 GeneticVariation disease BEFREE We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers). 7564788 1995
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.500 Biomarker disease HPO