DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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
EP300	Q09472	E1A binding protein p300		1.00	0.459	0.846
GNAS	O95467 P63092 P84996 Q5JWF2	GNAS complex locus	Enzyme modulator	0.68	0.420	0.885
PTEN	P60484	phosphatase and tensin homolog	Enzyme	0.26	0.305	0.923