Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Ala382Thr (p.A382T)
(
ENST00000240185.8,
ENST00000700088.1,
ENST00000621790.4,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1,
ENST00000649624.1,
ENST00000629725.2 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000639083.1, ENST00000616545.4, ENST00000315091.7, ENST00000629725.2, ENST00000649624.1, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate.
- Pubmed
- 21667065
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2011
Drugs