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
- Frontotemporal Lobar Degeneration
- Source Database
- DisGeNET
- Description
- Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.
- Pubmed
- 22398199
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.179369825115466
- Year of publication
- 2012
Drugs