Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Leu39Val (p.L39V)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Leu39Val (p.L39V) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- Self-inactivation rates are further enhanced in a mutant SOD1 protein (L38V) linked to the fatal neurodegenerative disorder, familial amyotrophic lateral sclerosis.
- Pubmed
- 12649272
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0222582335105849
- Year of publication
- 2003
Drugs