DisGeNET - a database of gene-disease associations

List of associated genes

Epilepsy of infancy with migrating focal seizures, C4518639

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
SCN2A	Q99250	sodium voltage-gated channel alpha subunit 2	Ion channel	1.00	0.518	0.731
GABRG2	P18507	gamma-aminobutyric acid type A receptor subunit gamma2	Ion channel	0.74	0.548	0.654
GABRB3	P28472	gamma-aminobutyric acid type A receptor subunit beta3	Ion channel	0.95	0.546	0.615
SLC12A5	Q9H2X9	solute carrier family 12 member 5	Transporter	1.00	0.570	0.654
TBCD	Q9BTW9	tubulin folding cofactor D	Cellular structure	1.0E-07	0.599	0.615
SLC25A22	Q9H936	solute carrier family 25 member 22	Transporter	6.6E-03	0.595	0.577
KCNT1	Q5JUK3	potassium sodium-activated channel subfamily T member 1	Ion channel	2.8E-05	0.610	0.308