Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Gln290Ter (p.Q290*)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000254108.12,
ENST00000715542.1 )
FUS p.Gln290Ter (p.Q290*) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- essential tremor
- Source Database
- DisGeNET
- Description
- Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family.
- Pubmed
- 24080306
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2013
Drugs