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
COL6A1	P12109	collagen type VI alpha 1 chain	Receptor	1.00	0.587	0.731
DMD	P11532	dystrophin		1.00	0.423	0.923
RYR1	P21817	ryanodine receptor 1	Ion channel	1.6E-29	0.489	0.808