Annotation Detail
Information
- Associated Genes
- SGCE
- Associated Variants
-
SGCE MUTATION
SGCE MUTATION - Associated Disease
- Miller Dieker syndrome
- Source Database
- DisGeNET
- Description
- Our data confirms that SGCE mutations are most commonly identified in MDS patients with (1) age at onset ≤10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia.
- Pubmed
- 25209853
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
Drugs