epilepsy Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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

51 genes associated with the disease epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CNTNAP2 contactin associated protein-like 2
CSTB cystatin B (stefin B)
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
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 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
GRIK1 glutamate receptor, ionotropic, kainate 1
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HP haptoglobin
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3
LGI4 leucine-rich repeat LGI family, member 4
MAOA monoamine oxidase A
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NR1I2 nuclear receptor subfamily 1, group I, member 2
OPRM1 opioid receptor, mu 1
PAX6 paired box 6
PDYN prodynorphin
RALBP1 ralA binding protein 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
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC4A3 solute carrier family 4 (anion exchanger), member 3
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7