Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His47Arg (p.H47R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His47Arg (p.H47R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions.
- Pubmed
- 15465081
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2004
Drugs