DisGeNET - a database of gene-disease associations

List of associated genes

Activated PI3 kinase delta syndrome, C4285730

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
PIK3CA	P42336	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Kinase	1.00	0.292	0.923
PTEN	P60484	phosphatase and tensin homolog	Enzyme	0.26	0.305	0.923
PIK3CD	O00329	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	Kinase	1.00	0.319	0.885
PIK3CG	P48736	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	Kinase	1.4E-06	0.320	0.885
PIK3CB	P42338	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	Kinase	1.00	0.322	0.885
MTOR	P42345	mechanistic target of rapamycin kinase	Kinase	1.00	0.343	0.885
B3GAT1	Q9P2W7	beta-1,3-glucuronyltransferase 1	Enzyme	0.14	0.494	0.769