Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly38Arg (p.G38R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly38Arg (p.G38R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e.
- Pubmed
- 11181815
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2001
Drugs