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
GNAS	O95467 P63092 P84996 Q5JWF2	GNAS complex locus	Enzyme modulator	0.68	0.420	0.885
SYNGAP1	Q96PV0	synaptic Ras GTPase activating protein 1	Enzyme modulator	1.00	0.584	0.577