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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 25557259

2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. 26301495

2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998

2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288

2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. 23754335

2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 22228622

2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864

2007
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 16847462

2006