Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- Macrocephaly
- Source Database
- DisGeNET
- Description
- Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes.
- Pubmed
- 24939587
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
Drugs