epilepsy Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures (Experimental Factor Ontology, EFO_0000474)
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Genes

354 genes co-occuring with the biological term epilepsy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACMSD aminocarboxymuconate semialdehyde decarboxylase
ACOT7 acyl-CoA thioesterase 7
ADAM22 ADAM metallopeptidase domain 22
ADIPOQ adiponectin, C1Q and collagen domain containing
ADK adenosine kinase
ADORA1 adenosine A1 receptor
ADRA2B adrenoceptor alpha 2B
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
ANXA7 annexin A7
AP3M2 adaptor-related protein complex 3, mu 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APLN apelin
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
AQP1 aquaporin 1 (Colton blood group)
AQP4 aquaporin 4
ARF6 ADP-ribosylation factor 6
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATF3 activating transcription factor 3
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
ATXN10 ataxin 10
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BDNF brain-derived neurotrophic factor
BRD2 bromodomain containing 2
C3 complement component 3
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CALB2 calbindin 2
CALHM1 calcium homeostasis modulator 1
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2
CAPN1 calpain 1, (mu/I) large subunit
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCL2 chemokine (C-C motif) ligand 2
CCL4 chemokine (C-C motif) ligand 4
CCM2 cerebral cavernous malformation 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CDKL5 cyclin-dependent kinase-like 5
CHL1 cell adhesion molecule L1-like
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLOCK clock circadian regulator
CNN3 calponin 3, acidic
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COL6A2 collagen, type VI, alpha 2
COX2
CPA6 carboxypeptidase A6
CRH corticotropin releasing hormone
CRMP1 collapsin response mediator protein 1
CSMD3 CUB and Sushi multiple domains 3
CST3 cystatin C
CSTB cystatin B (stefin B)
CTSD cathepsin D
CXCL8 chemokine (C-X-C motif) ligand 8
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DAPK1 death-associated protein kinase 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBP D site of albumin promoter (albumin D-box) binding protein
DCX doublecortin
DEL17Q12 Chromosome 17q12 deletion syndrome
DEPDC5 DEP domain containing 5
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
DLG2 discs, large homolog 2 (Drosophila)
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPYSL2 dihydropyrimidinase-like 2
DSCAM Down syndrome cell adhesion molecule
DTNBP1 dystrobrevin binding protein 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFHC1 EF-hand domain (C-terminal) containing 1
EFHC2 EF-hand domain (C-terminal) containing 2
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
ELP4 elongator acetyltransferase complex subunit 4
EMP1 epithelial membrane protein 1
EMX2 empty spiracles homeobox 2
ENO2 enolase 2 (gamma, neuronal)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERMN ermin, ERM-like protein
ERN1 endoplasmic reticulum to nucleus signaling 1
FAM3C family with sequence similarity 3, member C
FAR1 fatty acyl CoA reductase 1
FGFR3 fibroblast growth factor receptor 3
FOPNL FGFR1OP N-terminal like
FOXG1 forkhead box G1
GABARAP GABA(A) receptor-associated protein
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GBA glucosidase, beta, acid
GFAP glial fibrillary acidic protein
GHRL ghrelin/obestatin prepropeptide
GJD2 gap junction protein, delta 2, 36kDa
GLI3 GLI family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GOSR2 golgi SNAP receptor complex member 2
GPHN gephyrin
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRM1 glutamate receptor, metabotropic 1
GRM5 glutamate receptor, metabotropic 5
GSN gelsolin
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HCRT hypocretin (orexin) neuropeptide precursor
HDAC2 histone deacetylase 2
HIP1 huntingtin interacting protein 1
HLA-B major histocompatibility complex, class I, B
HP haptoglobin
HSPA8 heat shock 70kDa protein 8
HSPB1 heat shock 27kDa protein 1
HSPBAP1 HSPB (heat shock 27kDa) associated protein 1
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IGF1 insulin-like growth factor 1 (somatomedin C)
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
INSR insulin receptor
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
KCND1 potassium channel, voltage gated Shal related subfamily D, member 1
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNIP3 Kv channel interacting protein 3, calsenilin
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNK3 potassium channel, two pore domain subfamily K, member 3
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KCNMB2 potassium channel subfamily M regulatory beta subunit 2
KCNMB3 potassium channel subfamily M regulatory beta subunit 3
KCNMB4 potassium channel subfamily M regulatory beta subunit 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KCTD7 potassium channel tetramerization domain containing 7
KIF5A kinesin family member 5A
KL klotho
KRIT1 KRIT1, ankyrin repeat containing
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMB1 laminin, beta 1
LGI1 leucine-rich, glioma inactivated 1
LGI2 leucine-rich repeat LGI family, member 2
LGI4 leucine-rich repeat LGI family, member 4
LIAS lipoic acid synthetase
MAP2 microtubule-associated protein 2
MAPT microtubule-associated protein tau
MBD5 methyl-CpG binding domain protein 5
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial
MECP2 methyl CpG binding protein 2
MED1 mediator complex subunit 1
MEF2C myocyte enhancer factor 2C
MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1
MIR146A microRNA 146a
MIR204 microRNA 204
MIR218-1 microRNA 218-1
MMP9 matrix metallopeptidase 9
MRI1 methylthioribose-1-phosphate isomerase 1
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT2A metallothionein 2A
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MVP major vault protein
NCAM1 neural cell adhesion molecule 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NOS1 nitric oxide synthase 1 (neuronal)
NPPB natriuretic peptide B
NR1I2 nuclear receptor subfamily 1, group I, member 2
NRG1 neuregulin 1
NTNG1 netrin G1
NTNG2 netrin G2
OLIG2 oligodendrocyte lineage transcription factor 2
OPRM1 opioid receptor, mu 1
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY2 purinergic receptor P2Y, G-protein coupled, 2
P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4
PANX1 pannexin 1
PANX2 pannexin 2
PCDH19 protocadherin 19
PDXK pyridoxal (pyridoxine, vitamin B6) kinase
PDYN prodynorphin
PER2 period circadian clock 2
PGF placental growth factor
PHLDA1 pleckstrin homology-like domain, family A, member 1
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PLAUR plasminogen activator, urokinase receptor
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNOC prepronociceptin
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
PPP1R3D protein phosphatase 1, regulatory subunit 3D
PRNP prion protein
PRODH proline dehydrogenase (oxidase) 1
PROM1 prominin 1
PRRT2 proline-rich transmembrane protein 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
QARS glutaminyl-tRNA synthetase
RALBP1 ralA binding protein 1
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3
RCN2 reticulocalbin 2, EF-hand calcium binding domain
RELN reelin
REST RE1-silencing transcription factor
RHOA ras homolog family member A
RORA RAR-related orphan receptor A
RTN4 reticulon 4
S100B S100 calcium binding protein B
SAA1 serum amyloid A1
SCARB2 scavenger receptor class B, member 2
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
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SEZ6 seizure related 6 homolog (mouse)
SGK1 serum/glucocorticoid regulated kinase 1
SHH sonic hedgehog
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A7 solute carrier family 16 (monocarboxylate transporter), member 7
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
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
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLIT2 slit homolog 2 (Drosophila)
SNAP25 synaptosomal-associated protein, 25kDa
SNX25 sorting nexin 25
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRPX2 sushi-repeat containing protein, X-linked 2
SSTR2 somatostatin receptor 2
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STIM1 stromal interaction molecule 1
STIM2 stromal interaction molecule 2
STMN1 stathmin 1
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
SV2A synaptic vesicle glycoprotein 2A
SYN1 synapsin I
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT1 synaptotagmin I
SYT11 synaptotagmin XI
TACR1 tachykinin receptor 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TBC1D24 TBC1 domain family, member 24
TIMP4 TIMP metallopeptidase inhibitor 4
TLN2 talin 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNK2 tyrosine kinase, non-receptor, 2
TP53 tumor protein p53
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPEAR thrombospondin-type laminin G domain and EAR repeats
TSPO translocator protein (18kDa)
UBA1 ubiquitin-like modifier activating enzyme 1
UBC ubiquitin C
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WASL Wiskott-Aldrich syndrome-like
WWOX WW domain containing oxidoreductase