Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
Associated Disease
hyperhomocysteinemia
Source Database
DisGeNET
Description
Hyperhomocysteinemia due to Methylenetetrahydrofolate Reductase (MTHFR) gene, in particular the C677T (Ala222Val) polymorphism were recently associated to steatosis and fibrosis.
Pubmed
21854603
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.337316501920493
Year of publication
2011
Drugs