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 CLINVAR
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: 8318
Gene Symbol: CDC45
CDC45 		0.010 Biomarker disease BEFREE <b>Abbreviations:</b> alt-NHEJ: Alternative Nonhomologous End-Joining; CC: Coli-Coil motif; CMG: Cdc45/GINS/MCM2-7; CMGM: Cdc45/GINS/Mcm2-7/Mcm10; CPT: Camptothecin; CSB: Cockayne Syndrome Group B protein; CTD: C-Terminal Domain; DSB: Double-Strand Break; DSBR: Double-Strand Break Repair; dsDNA: Double-Stranded DNA; GINS: <i>go-ichi-ni-</i>san, Sld5-Psf1-Psf2-Psf3; HJ Dis: Holliday Junction dissolution; HJ Res: Holliday Junction resolution; HR: Homologous Recombination; ICL: Interstrand Cross-Link; ID: Internal Domain; MCM: Minichromosomal Maintenance; ND: Not Determined; NTD: N-Terminal Domain; PCNA: Proliferating Cell Nuclear Antigen; RPA: Replication Protein A; SA: Strand Annealing; SE: Strand Exchange; SEW: Steric Exclusion and Wrapping; ssDNA: Single-Stranded DNA; TCR: Transcription-Coupled Repair; TOP1: Topoisomerase. 31014174 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB 		0.010 GeneticVariation disease BEFREE Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). 31729162 2020
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		0.010 GeneticVariation disease BEFREE Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). 31729162 2020
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		0.010 GeneticVariation disease BEFREE Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). 31729162 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.020 GeneticVariation disease BEFREE Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). 31729162 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.020 GeneticVariation disease BEFREE Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). 31729162 2020
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 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
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: 23476
Gene Symbol: BRD4
BRD4 		0.010 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: 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: 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 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 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: 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
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 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: 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: 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