Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Met337Val (p.M337V)
(
ENST00000621790.4,
ENST00000700088.1,
ENST00000240185.8,
ENST00000629725.2,
ENST00000649624.1,
ENST00000616545.4,
ENST00000639083.1,
ENST00000315091.7 )
TARDBP p.Met337Val (p.M337V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- Developmental delay (disorder)
- Source Database
- DisGeNET
- Description
- Certain mutant forms of TDP-43, such as M337V, are associated with increased low molecular weight (LMW) fragments compared to wild-type (WT) TDP-43 and cause neuronal apoptosis and developmental delay in chick embryos.
- Pubmed
- 22029574
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs