Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
FUS p.Arg521His (p.R521H)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000715542.1,
ENST00000254108.12 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Gly348Cys (p.G348C) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000639083.1, ENST00000616545.4, ENST00000315091.7 )
FUS p.Arg521His (p.R521H) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000240185.8, ENST00000700088.1, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly348Cys (p.G348C) ( 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
- We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis.
- Pubmed
- 22848727
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2012
Drugs