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
- muscular atrophy
- Source Database
- DisGeNET
- Description
- Transgenic mice overexpressing a mutated form of human SOD1 with a Gly93Ala substitution develop progressive muscle wasting and paralysis as a result of spinal motoneuron loss and die at 5 to 6 months.
- Pubmed
- 11555629
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122714418720803
- Year of publication
- 2001
Drugs