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
CEP290	O15078	centrosomal protein 290		1.1E-60	0.517	0.769
KIAA0586	Q9BVV6	KIAA0586		5.1E-16	0.565	0.731
MKS1	Q9NXB0	MKS transition zone complex subunit 1	Extracellular structure	3.4E-16	0.505	0.769