Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gly290Ala (p.G290A)
(
ENST00000649624.1,
ENST00000629725.2,
ENST00000616545.4,
ENST00000639083.1,
ENST00000315091.7,
ENST00000621790.4,
ENST00000700088.1,
ENST00000240185.8 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Met337Val (p.M337V) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Gly290Ala (p.G290A) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000240185.8, ENST00000700088.1, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Met337Val (p.M337V) ( 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
- Expression of normal human TDP-43 in all C. elegans neurons causes moderate motor defects, whereas ALS-mutant G290A, A315T, or M337V TDP-43 transgenes cause severe motor dysfunction.
- Pubmed
- 21123567
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2010
Drugs