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
- motor neuron disease
- Source Database
- DisGeNET
- Description
- These findings suggest that the expression of the SOD1(G93A G1H) mutant protein results in a disease that resembles the late stages of human motor neuron disease.
- Pubmed
- 12384220
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.163520083227826
- Year of publication
- 2002
Drugs