Tonic - Clonic Seizures Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0494475
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Genes

287 genes associated with the disease Tonic - 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
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACACA acetyl-CoA carboxylase alpha
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACAT1 acetyl-CoA acetyltransferase 1
ACHE acetylcholinesterase (Yt blood group)
ACP1 acid phosphatase 1, soluble
ACSL4 acyl-CoA synthetase long-chain family member 4
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRV1 adhesion G protein-coupled receptor V1
ADORA2A adenosine A2a receptor
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
AFG3L2 AFG3-like AAA ATPase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
ALAD aminolevulinate dehydratase
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALPL alkaline phosphatase, liver/bone/kidney
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARX aristaless related homeobox
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCHE butyrylcholinesterase
BDNF brain-derived neurotrophic factor
BMS1 BMS1 ribosome biogenesis factor
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAT catalase
CCK cholecystokinin
CCKBR cholecystokinin B receptor
CDKL5 cyclin-dependent kinase-like 5
CERS1 ceramide synthase 1
CERT1 ceramide transporter 1
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHMP2B charged multivesicular body protein 2B
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)
CLASP1 cytoplasmic linker associated protein 1
CLCN4 chloride channel, voltage-sensitive 4
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLU clusterin
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
CNR1 cannabinoid receptor 1 (brain)
CNTN2 contactin 2 (axonal)
COX1
COX2
COX3
CPA6 carboxypeptidase A6
CRH corticotropin releasing hormone
CSTB cystatin B (stefin B)
CUX2 cut-like homeobox 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
D2HGDH D-2-hydroxyglutarate dehydrogenase
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
DNM1 dynamin 1
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EFHC1 EF-hand domain (C-terminal) containing 1
FA2H fatty acid 2-hydroxylase
FAAH fatty acid amide hydrolase
FGF12 fibroblast growth factor 12
FGF2 fibroblast growth factor 2 (basic)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
FRMPD4 FERM and PDZ domain containing 4
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
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
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAMT guanidinoacetate N-methyltransferase
GCK glucokinase (hexokinase 4)
GDI1 GDP dissociation inhibitor 1
GHRL ghrelin/obestatin prepropeptide
GJA8 gap junction protein, alpha 8, 50kDa
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPAA1 glycosylphosphatidylinositol anchor attachment 1
GPHN gephyrin
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRN granulin
GYS1 glycogen synthase 1 (muscle)
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HCFC1 host cell factor C1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
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
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL6 interleukin 6
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
INHA inhibin, alpha
INS insulin
IQSEC2 IQ motif and Sec7 domain 2
JRK Jrk homolog (mouse)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, 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
LBR lamin B receptor
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LGI1 leucine-rich, glioma inactivated 1
LPPR1 lipid phosphate phosphatase-related protein type 1
MANBA mannosidase, beta A, lysosomal
MAOA monoamine oxidase A
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MIB1 mindbomb E3 ubiquitin protein ligase 1
MID2 midline 2
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMP9 matrix metallopeptidase 9
MPDZ multiple PDZ domain protein
MT-ATP6 ATP synthase F0 subunit 6
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT3 metallothionein 3
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
ND1
NEK1 NIMA-related kinase 1
NEUROD2 neuronal differentiation 2
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
NPY neuropeptide Y
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRP2 neuropilin 2
OPRK1 opioid receptor, kappa 1
OPRM1 opioid receptor, mu 1
OXT oxytocin/neurophysin I prepropeptide
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAM peptidylglycine alpha-amidating monooxygenase
PCDH19 protocadherin 19
PDGFB platelet-derived growth factor beta polypeptide
PDX1 pancreatic and duodenal homeobox 1
PDYN prodynorphin
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHF24 PHD finger protein 24
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PLAGL1 pleiomorphic adenoma gene-like 1
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
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
PSEN1 presenilin 1
PSPH phosphoserine phosphatase
PTCHD1 patched domain containing 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
RAB39B RAB39B, member RAS oncogene family
RAI1 retinoic acid induced 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
REST RE1-silencing transcription factor
RORB RAR-related orphan receptor B
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAMD12 sterile alpha motif domain containing 12
SARDH sarcosine dehydrogenase
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
SCN3B sodium channel, voltage gated, type III beta subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SIK1 salt-inducible kinase 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
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
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
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SOD2 superoxide dismutase 2, mitochondrial
SP110 SP110 nuclear body protein
SQSTM1 sequestosome 1
SST somatostatin
SSTR2 somatostatin receptor 2
ST20-MTHFS ST20-MTHFS readthrough
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STEEP1 STING1 ER exit protein 1
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
SYN2 synapsin II
SYNJ1 synaptojanin 1
SYP synaptophysin
TBC1D24 TBC1 domain family, member 24
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
THOC2 THO complex 2
TMEM106B transmembrane protein 106B
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TPP1 tripeptidyl peptidase I
TRAPPC11 trafficking protein particle complex 11
TREM2 triggering receptor expressed on myeloid cells 2
TRH thyrotropin-releasing hormone
TRIM8 tripartite motif containing 8
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPAN7 tetraspanin 7
TUBA8 tubulin, alpha 8
TXN2 thioredoxin 2
UBQLN1 ubiquilin 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
VCP valosin containing protein
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
ZFP57 ZFP57 zinc finger protein
ZNF142 zinc finger protein 142
ZNF41 zinc finger protein 41
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81