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.Gly94Arg (p.G94R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Cys (p.G94C) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- The structure and unfolding of metal-free (apo) human wild-type SOD1 and three pathogenic variants of SOD1 (A4V, G93R, and H48Q) that cause familial amyotrophic lateral sclerosis have been studied with amide hydrogen/deuterium exchange and mass spectrometry.
- Pubmed
- 19805550
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2009
Drugs