Visual 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/C0270824
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Genes

209 genes associated with the disease Visual 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
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACAT1 acetyl-CoA acetyltransferase 1
ACHE acetylcholinesterase (Yt blood group)
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADORA2A adenosine A2a receptor
ADRA1B adrenoceptor alpha 1B
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIF1 allograft inflammatory factor 1
ALAD aminolevulinate dehydratase
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
APAF1 apoptotic peptidase activating factor 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ARC activity-regulated cytoskeleton-associated protein
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAD BCL2-associated agonist of cell death
BAG3 BCL2-associated athanogene 3
BCHE butyrylcholinesterase
BDNF brain-derived neurotrophic factor
BRD1 bromodomain containing 1
C7 complement component 7
CASP1 caspase 1, apoptosis-related cysteine peptidase
CAT catalase
CCK cholecystokinin
CCL5 chemokine (C-C motif) ligand 5
CCNB1 cyclin B1
CCND1 cyclin D1
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)
CIT citron rho-interacting serine/threonine kinase
CLU clusterin
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
CNR1 cannabinoid receptor 1 (brain)
CNTNAP2 contactin associated protein-like 2
CRH corticotropin releasing hormone
CSTB cystatin B (stefin B)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DCX doublecortin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DUSP1 dual specificity phosphatase 1
DUSP6 dual specificity phosphatase 6
EGR1 early growth response 1
ENDOG endonuclease G
ENO2 enolase 2 (gamma, neuronal)
EPO erythropoietin
ERBB4 erb-b2 receptor tyrosine kinase 4
FAAH fatty acid amide hydrolase
FAS Fas cell surface death receptor
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL1 FOS-like antigen 1
FOXG1 forkhead box G1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAMT guanidinoacetate N-methyltransferase
GAP43 growth associated protein 43
GHRL ghrelin/obestatin prepropeptide
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLUD1 glutamate dehydrogenase 1
GLUL glutamate-ammonia ligase
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIK5 glutamate receptor, ionotropic, kainate 5
GRM8 glutamate receptor, metabotropic 8
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HDAC2 histone deacetylase 2
HRH3 histamine receptor H3
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
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
IFNG interferon, gamma
IL1B interleukin 1, beta
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
INS insulin
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
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
KDM3B lysine (K)-specific demethylase 3B
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LPPR1 lipid phosphate phosphatase-related protein type 1
MAP1B microtubule-associated protein 1B
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MBD1 methyl-CpG binding domain protein 1
MBD2 methyl-CpG binding domain protein 2
MBD3 methyl-CpG binding domain protein 3
MECP2 methyl CpG binding protein 2
MIB1 mindbomb E3 ubiquitin protein ligase 1
MPDZ multiple PDZ domain protein
MSH2 mutS homolog 2
MT-CYB cytochrome b
MT3 metallothionein 3
NCF2 neutrophil cytosolic factor 2
NEURL1 neuralized E3 ubiquitin protein ligase 1
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NPY neuropeptide Y
NPY1R neuropeptide Y receptor Y1
NPY5R neuropeptide Y receptor Y5
NQO1 NAD(P)H dehydrogenase, quinone 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
NRGN neurogranin (protein kinase C substrate, RC3)
NRP2 neuropilin 2
OPRK1 opioid receptor, kappa 1
OPRM1 opioid receptor, mu 1
OXT oxytocin/neurophysin I prepropeptide
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAM peptidylglycine alpha-amidating monooxygenase
PAWR PRKC, apoptosis, WT1, regulator
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE4A phosphodiesterase 4A, cAMP-specific
PDGFB platelet-derived growth factor beta polypeptide
PDYN prodynorphin
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PLD1 phospholipase D1, phosphatidylcholine-specific
PLD2 phospholipase D2
PLP1 proteolipid protein 1
PNKP polynucleotide kinase 3'-phosphatase
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PRICKLE1 prickle homolog 1 (Drosophila)
PRKCD protein kinase C, delta
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTN pleiotrophin
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PVALB parvalbumin
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
REG3A regenerating islet-derived 3 alpha
REST RE1-silencing transcription factor
RRM1 ribonucleotide reductase M1
RTN4 reticulon 4
S100B S100 calcium binding protein B
SCN2B sodium channel, voltage gated, type II beta subunit
SH3GL2 SH3-domain GRB2-like 2
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
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
SLC38A1 solute carrier family 38, member 1
SLC38A2 solute carrier family 38, member 2
SLC38A3 solute carrier family 38, member 3
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
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
SMO smoothened, frizzled class receptor
SOD2 superoxide dismutase 2, mitochondrial
SPP1 secreted phosphoprotein 1
SREBF2 sterol regulatory element binding transcription factor 2
SST somatostatin
SSTR2 somatostatin receptor 2
SYN2 synapsin II
SYT1 synaptotagmin I
SYT10 synaptotagmin X
SYT4 synaptotagmin IV
TACR3 tachykinin receptor 3
TBCD tubulin folding cofactor D
TCF4 transcription factor 4
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TRH thyrotropin-releasing hormone
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VDAC1 voltage-dependent anion channel 1
VDAC2 voltage-dependent anion channel 2
VIP vasoactive intestinal peptide
VTN vitronectin
WFS1 Wolfram syndrome 1 (wolframin)
WNT2 wingless-type MMTV integration site family member 2
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta