Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Asp91Ala (p.D91A)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.
- Pubmed
- 11127534
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.437872511657633
- Year of publication
- 2000
Drugs