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
- Paresis
- Source Database
- DisGeNET
- Description
- The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive familial amyotrophic lateral sclerosis (FALS), is associated with a uniform phenotype characterized by slowly ascending paresis and long survival.
- Pubmed
- 12710511
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2002
Drugs