Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker BEFREE Mutations in the p85α regulatory subunit encoded by PIK3R1 can both activate PI3K through oncogenic truncations in the iSH2 domain, or inhibit PI3K through developmental disorder mutations in the cSH2 domain. 31831213

2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 GeneticVariation BEFREE We identified five activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders. 29446767

2018