Clonic Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle (Mammalian Phenotype Ontology, MP_0003996)
External Link https://www.disgenet.org/browser/0/1/0/C0234535
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Genes

119 genes associated with the disease Clonic 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)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADORA2A adenosine A2a receptor
ADRA1B adrenoceptor alpha 1B
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCHE butyrylcholinesterase
BDNF brain-derived neurotrophic factor
CAT catalase
CCK cholecystokinin
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHAT choline O-acetyltransferase
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)
CLU clusterin
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
CNR1 cannabinoid receptor 1 (brain)
CRH corticotropin releasing hormone
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
FAAH fatty acid amide hydrolase
FGF2 fibroblast growth factor 2 (basic)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
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
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
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
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
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LPPR1 lipid phosphate phosphatase-related protein type 1
MECP2 methyl CpG binding protein 2
MIB1 mindbomb E3 ubiquitin protein ligase 1
MPDZ multiple PDZ domain protein
MRPL28 mitochondrial ribosomal protein L28
MT3 metallothionein 3
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
NXT1 nuclear transport factor 2-like export factor 1
OPRK1 opioid receptor, kappa 1
OPRM1 opioid receptor, mu 1
OXT oxytocin/neurophysin I prepropeptide
PAM peptidylglycine alpha-amidating monooxygenase
PDYN prodynorphin
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PNKP polynucleotide kinase 3'-phosphatase
POLD4 polymerase (DNA-directed), delta 4, accessory subunit
POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PPARA peroxisome proliferator-activated receptor alpha
PRKCD protein kinase C, delta
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
REN renin
REST RE1-silencing transcription factor
RPP14 ribonuclease P/MRP 14kDa subunit
RPS19 ribosomal protein S19
S100A9 S100 calcium binding protein A9
SF3B6 splicing factor 3b, subunit 6, 14kDa
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
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
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A1 solute carrier family 30 (zinc transporter), 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
SOD2 superoxide dismutase 2, mitochondrial
SST somatostatin
SSTR2 somatostatin receptor 2
SUB1 SUB1 homolog (S. cerevisiae)
SYN2 synapsin II
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
TRH thyrotropin-releasing hormone
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2