Annotation Detail
Information
- Associated Genes
- SGCE
- Associated Variants
-
SGCE MUTATION
SGCE MUTATION - Associated Disease
- myoclonic dystonia
- Source Database
- DisGeNET
- Description
- Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine.
- Pubmed
- 25406829
- Section of the abstract supporting the evidence
- METHODS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.579000931045621
Drugs