Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker GENOMICS_ENGLAND Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. 27030595

2016

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 SomaticCausalMutation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 Biomarker 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
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation CLINVAR