Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 MUTATION
AKT1 MUTATION - Associated Disease
- Congenital anomaly of brain
- Source Database
- DisGeNET
- Description
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
- Pubmed
- 25722288
- 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
- 0.000271441872080303
Drugs