Generalized Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Seizures of with initial involvement of both cerebral hemispheres. (Human Phenotype Ontology, HP_0002197)
External Link https://www.disgenet.org/browser/0/1/0/C0234533
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Genes

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

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACAT1 acetyl-CoA acetyltransferase 1
ACHE acetylcholinesterase (Yt blood group)
ACP1 acid phosphatase 1, soluble
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRG1 adhesion G protein-coupled receptor G1
ADORA2A adenosine A2a receptor
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALAD aminolevulinate dehydratase
ALPL alkaline phosphatase, liver/bone/kidney
ANO10 anoctamin 10
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ASPA aspartoacylase
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN10 ataxin 10
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BCHE butyrylcholinesterase
BDNF brain-derived neurotrophic factor
C12ORF4 chromosome 12 open reading frame 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAT catalase
CC2D1A coiled-coil and C2 domain containing 1A
CCK cholecystokinin
CDKL5 cyclin-dependent kinase-like 5
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHRM1 cholinergic receptor, muscarinic 1
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal)
CLCN1 chloride channel, voltage-sensitive 1
CLIP1 CAP-GLY domain containing linker protein 1
CLU clusterin
CMA1 chymase 1, mast cell
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
CNR1 cannabinoid receptor 1 (brain)
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CRH corticotropin releasing hormone
CTNND2 catenin (cadherin-associated protein), delta 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DCPS decapping enzyme, scavenger
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EDC3 enhancer of mRNA decapping 3
EFHC1 EF-hand domain (C-terminal) containing 1
ENG endoglin
EPHB2 EPH receptor B2
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
EZR ezrin
FAAH fatty acid amide hydrolase
FBXO31 F-box protein 31
FGF2 fibroblast growth factor 2 (basic)
FGFR3 fibroblast growth factor receptor 3
FMN2 formin 2
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
FRRS1L ferric-chelate reductase 1-like
FTL ferritin, light polypeptide
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAMT guanidinoacetate N-methyltransferase
GHRL ghrelin/obestatin prepropeptide
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIK2 glutamate receptor, ionotropic, kainate 2
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HNMT histamine N-methyltransferase
HSPA1A heat shock 70kDa protein 1A
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNB1 interferon, beta 1, fibroblast
IL17A interleukin 17A
IL1B interleukin 1, beta
IL6 interleukin 6
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
INS insulin
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM5B lysine (K)-specific demethylase 5B
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LGI1 leucine-rich, glioma inactivated 1
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
LPPR1 lipid phosphate phosphatase-related protein type 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MCAT malonyl CoA:ACP acyltransferase (mitochondrial)
MCTS1 malignant T cell amplified sequence 1
MECP2 methyl CpG binding protein 2
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
METTL23 methyltransferase like 23
MIB1 mindbomb E3 ubiquitin protein ligase 1
MPDZ multiple PDZ domain protein
MPLKIP M-phase specific PLK1 interacting protein
MT3 metallothionein 3
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NPY neuropeptide Y
NRP2 neuropilin 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUCLEOLIN nucleolin multifunctional protein
OPRK1 opioid receptor, kappa 1
OPRM1 opioid receptor, mu 1
OR2AG1 olfactory receptor, family 2, subfamily AG, member 1 (gene/pseudogene)
OSTM1 osteopetrosis associated transmembrane protein 1
OXT oxytocin/neurophysin I prepropeptide
PAM peptidylglycine alpha-amidating monooxygenase
PCDH19 protocadherin 19
PDYN prodynorphin
PGAP1 post-GPI attachment to proteins 1
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAA phospholipase A2-activating protein
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNKP polynucleotide kinase 3'-phosphatase
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRKCD protein kinase C, delta
PRRT2 proline-rich transmembrane protein 2
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSEN1 presenilin 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
RAB27A RAB27A, member RAS oncogene family
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RELN reelin
REST RE1-silencing transcription factor
RNF113A ring finger protein 113A
RPS19 ribosomal protein S19
RSRC1 arginine/serine-rich coiled-coil 1
SACM1L SAC1 suppressor of actin mutations 1-like (yeast)
SAMD12 sterile alpha motif domain containing 12
SARS1 seryl-tRNA synthetase 1
SCARB2 scavenger receptor class B, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A1 solute carrier family 30 (zinc transporter), member 1
SLC45A1 solute carrier family 45, member 1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SOD2 superoxide dismutase 2, mitochondrial
SOX10 SRY (sex determining region Y)-box 10
SST somatostatin
SSTR2 somatostatin receptor 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
SYN2 synapsin II
SYNJ1 synaptojanin 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
TECR trans-2,3-enoyl-CoA reductase
TGFB1 transforming growth factor, beta 1
TK2 thymidine kinase 2, mitochondrial
TNIK TRAF2 and NCK interacting kinase
TRAPPC9 trafficking protein particle complex 9
TRH thyrotropin-releasing hormone
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUSC3 tumor suppressor candidate 3
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
XK X-linked Kx blood group
ZC3H14 zinc finger CCCH-type containing 14