Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 MUTATION
AKT1 MUTATION - Associated Disease
- Hemimegalencephaly
- Source Database
- DisGeNET
- Description
- The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutant AKT3 or AKT1 gene as the aetiology of focal somatic mosaicism in the periventricular neuroepithelium.
- Pubmed
- 25451314
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs