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
0.630 Biomarker BEFREE PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome and Hemihyperplasia Multiple Lipomatosis (HHML). 25915946

2016

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 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
0.630 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

2015

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 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
0.630 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 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
0.630 CausalMutation 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
Megalencephaly cutis marmorata telangiectatica congenita
0.630 CausalMutation CLINVAR 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
0.630 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
0.630 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 CausalMutation CLINVAR PIK3CA-Related Segmental Overgrowth 23946963

1993

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.630 SomaticCausalMutation ORPHANET