Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
- Source Database
- DisGeNET
- Description
- We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome.
- Pubmed
- 25044986
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
Drugs