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
CAPN3	P20807	calpain 3	Enzyme	3.6E-19	0.564	0.615
COL6A1	P12109	collagen type VI alpha 1 chain	Receptor	1.00	0.587	0.731
PYROXD1	Q8WU10	pyridine nucleotide-disulphide oxidoreductase domain 1	Enzyme	6.3E-09	0.769	0.269