DisGeNET - a database of gene-disease associations

Source: ALL

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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
SCN8A	Q9UQD0	sodium voltage-gated channel alpha subunit 8	Ion channel	1.00	0.510	0.731
SHANK3	Q9BYB0	SH3 and multiple ankyrin repeat domains 3		1.00	0.550	0.731
SMAD4	Q13485	SMAD family member 4	Transcription factor	1.00	0.401	0.808