Epilepsy Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (Human Disease Ontology, DOID_1826)
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Genes

159 genes associated with the Epilepsy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ANKK1 ankyrin repeat and kinase domain containing 1
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APOE apolipoprotein E
ARHGAP11B Rho GTPase activating protein 11B
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
BAG6 BCL2-associated athanogene 6
BDNF brain-derived neurotrophic factor
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN1 chloride channel, voltage-sensitive 1
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN4 chloride channel, voltage-sensitive 4
CLCN5 chloride channel, voltage-sensitive 5
CLCN6 chloride channel, voltage-sensitive 6
CLCN7 chloride channel, voltage-sensitive 7
CNTNAP2 contactin associated protein-like 2
COMT catechol-O-methyltransferase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CSTB cystatin B (stefin B)
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DHFR dihydrofolate reductase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FABP2 fatty acid binding protein 2, intestinal
FAS Fas cell surface death receptor
FOXG1 forkhead box G1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GOLGA8H golgin A8 family, member H
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GSTA4 glutathione S-transferase alpha 4
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HEPACAM hepatic and glial cell adhesion molecule
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF4A hepatocyte nuclear factor 4, alpha
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL6 interleukin 6
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KCNMB4 potassium channel subfamily M regulatory beta subunit 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7 potassium channel tetramerization domain containing 7
LGI1 leucine-rich, glioma inactivated 1
MECP2 methyl CpG binding protein 2
MFSD8 major facilitator superfamily domain containing 8
MICA MHC class I polypeptide-related sequence A
MMP2 matrix metallopeptidase 2
MT-CYB cytochrome b
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NAGS N-acetylglutamate synthase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NOS2 nitric oxide synthase 2, inducible
NR1I2 nuclear receptor subfamily 1, group I, member 2
NRXN1 neurexin 1
PCDH19 protocadherin 19
PGP phosphoglycolate phosphatase
PHOX2B paired-like homeobox 2b
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
PTEN phosphatase and tensin homolog
PTPRD protein tyrosine phosphatase, receptor type, D
RALBP1 ralA binding protein 1
RELN reelin
RNF213 ring finger protein 213
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
SCN2B sodium channel, voltage gated, type II beta subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SMS spermine synthase
SNAP25 synaptosomal-associated protein, 25kDa
SOD2 superoxide dismutase 2, mitochondrial
STX1A syntaxin 1A (brain)
STXBP1 syntaxin binding protein 1
SV2A synaptic vesicle glycoprotein 2A
SV2B synaptic vesicle glycoprotein 2B
SV2C synaptic vesicle glycoprotein 2C
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT1 synaptotagmin I
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TCN2 transcobalamin II
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TPP1 tripeptidyl peptidase I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VRK2 vaccinia related kinase 2