Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ile113Thr (p.I113T)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- These data suggest that this case might have been different from an example of fALS with Ile 113 Thr mutation in the SOD1 gene.
- Pubmed
- 10567054
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 1999
Drugs