Epileptic Syndromes Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4505072
Similar Terms
Downloads & Tools

Genes

41 genes associated with the disease Epileptic Syndromes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ADAM22 ADAM metallopeptidase domain 22
AQP4 aquaporin 4
BDNF brain-derived neurotrophic factor
C1ORF52 chromosome 1 open reading frame 52
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CDK9 cyclin-dependent kinase 9
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CISH cytokine inducible SH2-containing protein
CNTNAP2 contactin associated protein-like 2
EFHC1 EF-hand domain (C-terminal) containing 1
F5 coagulation factor V (proaccelerin, labile factor)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LGI1 leucine-rich, glioma inactivated 1
LRRC4 leucine rich repeat containing 4
MAP6 microtubule-associated protein 6
MMP9 matrix metallopeptidase 9
MVP major vault protein
PCDH19 protocadherin 19
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POLG polymerase (DNA directed), gamma
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
STRADA STE20-related kinase adaptor alpha
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24