Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- Klippel-Trenaunay-Weber Syndrome
- Source Database
- DisGeNET
- Description
- Most individuals from Boston Children's Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), fibro-adipose vascular anomaly (5/8), and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (31/33) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ∼ 80% of cases.
- Pubmed
- 25681199
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs