Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease BEFREE Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. 31729162 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 Biomarker disease BEFREE The first involved treatment using Dichlorodimethylsilane MCM 41(TD) and later treatment of a pure sample with sulfuric acid MCM-41. 31850301 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 Biomarker disease BEFREE Recently, the O'Donnell laboratory has been better able to map the interactions of Mcm10 with a larger Cdc45/GINS/MCM (CMG) unwinding complex placing it at the front of the replication fork. 31014174 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 Biomarker disease BEFREE Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17 years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n = 1], CLOVES [congenital lipomatosis, overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, scoliosis; n = 1], and MCAP [megalencephaly capillary malformation syndrome; n = 4]. 29549527 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease BEFREE We underline the importance of the genotype-phenotype correlation in the diagnostic process of overgrowth syndromes and emphasize the strict correlation between the mutation c.2740G > A in the PIK3CA gene and the Megalencephaly-Capillary Malformation syndrome phenotype. 30231930 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease UNIPROT "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 		0.770 Biomarker disease GENOMICS_ENGLAND Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. 27030595 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease BEFREE Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? 24939587 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease BEFREE Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. 24782230 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 Biomarker disease GENOMICS_ENGLAND 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 		0.770 SomaticCausalMutation disease ORPHANET 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 		0.770 GeneticVariation disease UNIPROT 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 		0.770 Biomarker disease GENOMICS_ENGLAND De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223 2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 CausalMutation disease 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 		0.770 Biomarker disease 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
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.770 GeneticVariation disease CLINVAR
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.100 CausalMutation disease CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.100 CausalMutation disease CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.100 CausalMutation disease CLINVAR Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. 25416470 2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.100 CausalMutation disease CLINVAR Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25523067 2015
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.100 CausalMutation disease CLINVAR Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 26520804 2015
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.100 CausalMutation disease CLINVAR AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.100 CausalMutation disease CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998 2014
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.100 CausalMutation disease CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.100 CausalMutation disease CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012