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
NSD1	Q96L73	nuclear receptor binding SET domain protein 1	Epigenetic regulator	1.00	0.505	0.769
PTCH1	Q13635	patched 1		1.00	0.398	0.885
PTPN11	Q06124	protein tyrosine phosphatase non-receptor type 11		1.00	0.385	0.923