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
- Mitochondrial pathology
- Source Database
- DisGeNET
- Description
- Our study provides a new mechanistic link for hSOD1(G93A)-mediated impairment of LE transport to autophagy-lysosomal deficits and mitochondrial pathology.
- Pubmed
- 26182418
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2015
Drugs