[The substitution of cytosine (C) by thymine (T) at nucleotide 677 of the methylenetetrahydrofolate reductase (MTHFR) gene, which converts an alanine to a valine residue, is a frequent polymorphism with reduced specific activity, associated with moderate increase in plasma homocysteine levels (tHcy) and risk of vascular diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE