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
NF1	P21359	neurofibromin 1	Enzyme modulator	0.90	0.440	0.885
SMARCB1	Q12824	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	Nucleic acid binding	1.00	0.434	0.846