Idiopathic Generalized Epilepsy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (Human Disease Ontology, DOID_1827)
External Link https://www.disgenet.org/browser/0/1/0/C0270850
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Genes

90 genes associated with the disease Idiopathic Generalized Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP1 acid phosphatase 1, soluble
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ARC activity-regulated cytoskeleton-associated protein
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
BABAM2 BRISC and BRCA1 A complex member 2
BRD2 bromodomain containing 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
COL17A1 collagen, type XVII, alpha 1
CRP C-reactive protein, pentraxin-related
CSTB cystatin B (stefin B)
EFHC1 EF-hand domain (C-terminal) containing 1
F13A1 coagulation factor XIII, A1 polypeptide
FERD3L Fer3-like bHLH transcription factor
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
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
GJA8 gap junction protein, alpha 8, 50kDa
GLRA3 glycine receptor, alpha 3
GPHN gephyrin
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM4 glutamate receptor, metabotropic 4
GRM7 glutamate receptor, metabotropic 7
GRM8 glutamate receptor, metabotropic 8
GSTT1 glutathione S-transferase theta 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HLA-F major histocompatibility complex, class I, F
HP haptoglobin
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IL13 interleukin 13
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
JRK Jrk homolog (mouse)
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNMB3 potassium channel subfamily M regulatory beta subunit 3
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LGALS14 lectin, galactoside-binding, soluble, 14
LGI1 leucine-rich, glioma inactivated 1
LGI4 leucine-rich repeat LGI family, member 4
LY86 lymphocyte antigen 86
MAOA monoamine oxidase A
ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
NRXN1 neurexin 1
OPRM1 opioid receptor, mu 1
PAX6 paired box 6
PNPO pyridoxamine 5'-phosphate oxidase
PROS1 protein S (alpha)
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RGCC regulator of cell cycle
RYR2 ryanodine receptor 2 (cardiac)
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
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
SYK spleen tyrosine kinase
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
VRK2 vaccinia related kinase 2