Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
TARDBP p.Gly298Ser (p.G298S)
(
ENST00000315091.7,
ENST00000240185.8,
ENST00000700088.1,
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
- Source Database
- DisGeNET
- Description
- Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
- Pubmed
- 20558945
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00726291719771163
- Year of publication
- 2010
Drugs