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
PTCH1	Q13635	patched 1		1.00	0.398	0.885
EHMT1	Q9H9B1	euchromatic histone lysine methyltransferase 1	Epigenetic regulator	1.00	0.460	0.808
DHCR7	Q9UBM7	7-dehydrocholesterol reductase	Enzyme	3.9E-13	0.500	0.846