Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly94Arg (p.G94R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly94Cys (p.G94C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Arg (p.G94R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Cys (p.G94C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- In this study we have investigated the effects of over-expressing wild-type SOD1 and two mutant forms of SOD1 found in FALS, G93A and G93R, on cell survival using stably transfected neuronal cells.
- Pubmed
- 12531528
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2002
Drugs