Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly86Arg (p.G86R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- We studied the expression of mitochondrial uncoupling proteins (UCPs), key regulators of mitochondrial functions, in tissues from a mouse model of ALS (SOD1 G86R transgenic mice) and from muscular biopsies of human sporadic ALS.
- Pubmed
- 14500553
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.437872511657633
- Year of publication
- 2003
Drugs