Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.020 Biomarker BEFREE Our findings reveal that PIK3CA mutations have a key role in the pathogenesis of VM and PIK3CA-driven experimental lesions can be effectively treated by PI3K/mTOR inhibitors. 29352118

2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.020 Biomarker BEFREE Recent preclinical and clinical data demonstrated that sirolimus could offset the progression of vascular malformations and significantly improve quality of life of patients through inhibition of the Phosphatidylinositol-3-kinase (PI3K)/AKT/mammalian Target of Rapamycin (mTOR) pathway. 30373605

2018