Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ser135Asn (p.S135N)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ser135Asn (p.S135N) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- S134N copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 proteins known to cause familial amyotrophic lateral sclerosis.
- Pubmed
- 16105836
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2005
Drugs