DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
HUWE1	Q7Z6Z7	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Enzyme	1.00	0.534	0.769
SYNGAP1	Q96PV0	synaptic Ras GTPase activating protein 1	Enzyme modulator	1.00	0.584	0.577