Annotation Detail

Information
Associated Genes
MTR
Associated Variants
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
Associated Disease
epilepsy
Source Database
DisGeNET
Description
The purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHFR (C677T), MTR (A2756G), and MTHFD1 (G1958A), as well as to analyze the concentration of homocysteine (Hcy), methionine (Met), asymmetric dimethylarginine (ADMA), and arginine (Arg) in epileptics treatment with antiepileptic drugs (AEDs), and controls.
Pubmed
21543238
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2011
Drugs