Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ala5Val (p.A5V)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Glu101Gly (p.E101G) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Glu101Gly (p.E101G) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.
- Pubmed
- 9008494
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 1997
Drugs