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
- Progressive cGVHD
- Source Database
- DisGeNET
- Description
- ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.
- Pubmed
- 9052802
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 1997
Drugs