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
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Degeneration of corticospinal and bulbospinal systems in the superoxide dismutase 1(G93A G1H) transgenic mouse model of familial amyotrophic lateral sclerosis.
- Pubmed
- 12384220
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2002
Drugs