Jacksonian Seizure Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0022333
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Genes

102 genes associated with the disease Jacksonian Seizure 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
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
CDKL5 cyclin-dependent kinase-like 5
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
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
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
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
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
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
REST RE1-silencing transcription factor
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
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
SYN2 synapsin II
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
TRH thyrotropin-releasing hormone
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2