Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.130 GeneticVariation BEFREE Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance. 31830321

2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.130 Biomarker BEFREE This syndrome is characterized by the capillary malformation (CM) of the lower lip, a very important clinical sign when diagnosing CLAPO. 31172613

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.130 GeneticVariation BEFREE Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). 25557259

2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.130 Biomarker HPO

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.130 CausalMutation CLINVAR