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
NF1	P21359	neurofibromin 1	Enzyme modulator	0.90	0.440	0.885
PTCH1	Q13635	patched 1		1.00	0.398	0.885
RET	P07949	ret proto-oncogene	Kinase	1.00	0.392	0.885
TP53	P04637	tumor protein p53	Transcription factor	0.53	0.236	0.962