Annotation Detail

Information
Associated Genes
SOD1
Associated Variants
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
Associated Disease
Neurodegenerative Disorders
Source Database
DisGeNET
Description
These results show that in the SOD1(G93A) model of neurodegenerative diseases, the concentration of brain glutamate (determined with (1)H-MRS) can be lowered by inhibiting in vivo the synthesis of glutamine with non-toxic doses of MSO.
Pubmed
20060132
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0222582335105849
Year of publication
2010
Drugs