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
- Muscle Weakness
- Source Database
- DisGeNET
- Description
- Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxide dismutase (SOD1) gene is characterized by initial muscle weakness and atrophy in the legs and a very long-term clinical course (approximately 15 years).
- Pubmed
- 17549011
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.120814325616241
- Year of publication
- 2007
Drugs