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
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation.
- Pubmed
- 22670877
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00651460492992728
- Year of publication
- 2012
Drugs