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.Gly298Ser (p.G298S) ( ENST00000315091.7, ENST00000240185.8, ENST00000700088.1, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly290Ala (p.G290A) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly298Ser (p.G298S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
- Source Database
- DisGeNET
- Description
- TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
- Pubmed
- 18396105
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2008
Drugs