Annotation Detail

Information
Associated Genes
FUS
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
General Paralysis
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
0.000542883744160607
Year of publication
2012
Drugs