Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly86Arg (p.G86R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A and G85R behaved similarly to wild-type SOD1, suggesting that these compounds could be leads toward effective therapeutics against FALS.
- Pubmed
- 15738401
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2005
Drugs