Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
0.600 GeneticVariation UNIPROT CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. 29446767

2018

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
0.600 Biomarker GENOMICS_ENGLAND Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. 19011570

2009