Annotation Detail
Information
- Associated Genes
- AKT3
- Associated Variants
-
AKT3 MUTATION
AKT3 MUTATION - Associated Disease
- Macroencephaly
- Source Database
- DisGeNET
- Description
- Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
- Pubmed
- 25416470
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs