Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Pro431Leu (p.P431L)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000254108.12,
ENST00000715542.1 )
FUS p.Pro431Leu (p.P431L) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- Tremor, hereditary essential, 4
- Source Database
- DisGeNET
- Description
- Exome sequencing identifies FUS mutations as a cause of essential tremor.
- Pubmed
- 22863194
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2012
Drugs