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
- Extrapyramidal sign
- Source Database
- DisGeNET
- Description
- Our findings suggest that the clinical presentation of the p.A382T TARDBP gene mutation may include forms of parkinsonism in which the extrapyramidal signs are the crucial core of the disease at onset.
- Pubmed
- 23546887
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs