Annotation Detail
Information
- Associated Genes
- TGM2
- Associated Variants
-
SOD1 p.Cys7Phe (p.C7F)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Cys7Phe (p.C7F) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS).
- Pubmed
- 8907321
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 1996
Drugs