Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly38Arg (p.G38R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly38Arg (p.G38R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- motor neuron disease
- Source Database
- DisGeNET
- Description
- The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease.
- Pubmed
- 16046140
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.163520083227826
- Year of publication
- 2005
Drugs