MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Disease: Hyperlipoproteinemia Type IIa ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 GeneticVariation disease BEFREE The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine. 9506661 1998