MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Disease: Angelman Syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.010 GeneticVariation disease BEFREE We also obtained tentative evidence that homozygosity for the 677C>T variant of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on chromosome 1 might increase the risk of a maternal imprinting defect: the frequency of the TT genotype was significantly higher in the mothers of the AS patients with an imprinting defect than in the patients' fathers or the general population (P=0.028). 16596119 2006