Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases. 22120714

2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation. 18829572

2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864

2007
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.430 CausalMutation CLINVAR Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005