Epilepsy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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

309 genes involed in the disease Epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
JRK Jrk homolog (mouse) 5.0
FOXG1 forkhead box G1 5.0
MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 5.0
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 4.0
TP53RK TP53 regulating kinase 4.0
GAL galanin/GMAP prepropeptide 4.0
PIGK phosphatidylinositol glycan anchor biosynthesis, class K 4.0
UGP2 UDP-glucose pyrophosphorylase 2 4.0
NBEA neurobeachin 4.0
ZEB2 zinc finger E-box binding homeobox 2 4.0
CNTNAP2 contactin associated protein-like 2 4.0
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1 4.0
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 4.0
SCARB2 scavenger receptor class B, member 2 4.0
PACS2 phosphofurin acidic cluster sorting protein 2 4.0
TIAM1 T-cell lymphoma invasion and metastasis 1 4.0
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 4.0
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 4.0
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 4.0
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 4.0
PRICKLE1 prickle homolog 1 (Drosophila) 4.0
PRICKLE2 prickle homolog 2 (Drosophila) 4.0
PIGH phosphatidylinositol glycan anchor biosynthesis, class H 4.0
PIGF phosphatidylinositol glycan anchor biosynthesis, class F 4.0
PIGB phosphatidylinositol glycan anchor biosynthesis, class B 4.0
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 4.0
SRPX2 sushi-repeat containing protein, X-linked 2 4.0
RNF13 ring finger protein 13 4.0
DNM1 dynamin 1 4.0
ARV1 ARV1 homolog (S. cerevisiae) 4.0
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 4.0
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 4.0
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 4.0
CCDC88A coiled-coil domain containing 88A 4.0
SIK1 salt-inducible kinase 1 4.0
SCN2A sodium channel, voltage gated, type II alpha subunit 4.0
SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 4.0
CELF2 CUGBP, Elav-like family member 2 4.0
THAP11 THAP domain containing 11 4.0
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 4.0
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 4.0
SCAF4 SR-related CTD-associated factor 4 4.0
OTUD6B OTU domain containing 6B 4.0
NRROS negative regulator of reactive oxygen species 4.0
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 4.0
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 4.0
PNKP polynucleotide kinase 3'-phosphatase 4.0
PIGP phosphatidylinositol glycan anchor biosynthesis, class P 4.0
RTN4IP1 reticulon 4 interacting protein 1 4.0
CPSF3 cleavage and polyadenylation specific factor 3, 73kDa 4.0
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 4.0
SMC1A structural maintenance of chromosomes 1A 4.0
NECAP1 NECAP endocytosis associated 1 4.0
LGI1 leucine-rich, glioma inactivated 1 4.0
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta 4.0
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 4.0
RNF2 ring finger protein 2 4.0
ROGDI rogdi homolog (Drosophila) 4.0
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 4.0
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 4.0
MEF2C myocyte enhancer factor 2C 4.0
GUF1 GUF1 GTPase homolog (S. cerevisiae) 4.0
DENND5A DENN/MADD domain containing 5A 4.0
EML1 echinoderm microtubule associated protein like 1 4.0
MED11 mediator complex subunit 11 4.0
GRIA2 glutamate receptor, ionotropic, AMPA 2 4.0
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 4.0
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 4.0
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 4.0
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 4.0
ATN1 atrophin 1 4.0
NAGA N-acetylgalactosaminidase, alpha- 4.0
NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae) 4.0
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 4.0
GOSR2 golgi SNAP receptor complex member 2 4.0
WASF1 WAS protein family, member 1 4.0
RBMX RNA binding motif protein, X-linked 4.0
CDK19 cyclin-dependent kinase 19 4.0
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 4.0
VPS50 VPS50 subunit of EARP/GARPII complex 4.0
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 4.0
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 4.0
BRAT1 BRCA1-associated ATM activator 1 4.0
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 4.0
SUOX sulfite oxidase 4.0
STX1B syntaxin 1B 4.0
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 4.0
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 4.0
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 4.0
KIF5A kinesin family member 5A 4.0
ACTL6B actin-like 6B 4.0
NCDN neurochondrin 4.0
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 4.0
FBXO28 F-box protein 28 4.0
CDKL5 cyclin-dependent kinase-like 5 4.0
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 4.0
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 4.0
HTRA2 HtrA serine peptidase 2 4.0
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 4.0
VARS1 valyl-tRNA synthetase 1 4.0
MARCHF6 membrane associated ring-CH-type finger 6 4.0
GON7 GON7 subunit of KEOPS complex 4.0
SARS1 seryl-tRNA synthetase 1 4.0
LNPK lunapark, ER junction formation factor 4.0
NARS1 asparaginyl-tRNA synthetase 1 4.0
QARS1 glutaminyl-tRNA synthetase 1 4.0
PLPBP pyridoxal phosphate binding protein 4.0
AARS1 alanyl-tRNA synthetase 1 4.0
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 4.0
ARX aristaless related homeobox 4.0
USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 4.0
SPTAN1 spectrin, alpha, non-erythrocytic 1 4.0
YIPF5 Yip1 domain family, member 5 4.0
TUBGCP2 tubulin, gamma complex associated protein 2 4.0
ZNF526 zinc finger protein 526 4.0
TBC1D24 TBC1 domain family, member 24 4.0
HID1 HID1 domain containing 4.0
SAMD12 sterile alpha motif domain containing 12 4.0
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 4.0
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2 4.0
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 4.0
CUL3 cullin 3 4.0
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 4.0
FAR1 fatty acyl CoA reductase 1 4.0
AP2M1 adaptor-related protein complex 2, mu 1 subunit 4.0
RHOBTB2 Rho-related BTB domain containing 2 4.0
GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 4.0
SYNJ1 synaptojanin 1 4.0
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 4.0
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 4.0
TPRKB TP53RK binding protein 4.0
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 4.0
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 4.0
PIGT phosphatidylinositol glycan anchor biosynthesis, class T 4.0
PIGS phosphatidylinositol glycan anchor biosynthesis, class S 4.0
SNIP1 Smad nuclear interacting protein 1 4.0
GLS glutaminase 4.0
AP3B2 adaptor-related protein complex 3, beta 2 subunit 4.0
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 4.0
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 4.0
OSGEP O-sialoglycoprotein endopeptidase 4.0
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 4.0
KCNT1 potassium channel, sodium activated subfamily T, member 1 4.0
PRRT2 proline-rich transmembrane protein 2 4.0
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 4.0
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 4.0
DMXL2 Dmx-like 2 4.0
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 4.0
PI4K2A phosphatidylinositol 4-kinase type 2 alpha 4.0
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative) 4.0
NSF N-ethylmaleimide-sensitive factor 4.0
OXR1 oxidation resistance 1 4.0
STXBP1 syntaxin binding protein 1 4.0
DEPDC5 DEP domain containing 5 4.0
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q 4.0
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2 4.0
TRAPPC10 trafficking protein particle complex 10 4.0
HDAC4 histone deacetylase 4 4.0
YEATS2 YEATS domain containing 2 4.0
DHDDS dehydrodolichyl diphosphate synthase 4.0
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 4.0
SV2A synaptic vesicle glycoprotein 2A 4.0
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 4.0
DLL1 delta-like 1 (Drosophila) 4.0
IER3IP1 immediate early response 3 interacting protein 1 4.0
PHF21A PHD finger protein 21A 4.0
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 4.0
YRDC yrdC N(6)-threonylcarbamoyltransferase domain containing 4.0
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 4.0
CPA6 carboxypeptidase A6 4.0
DIAPH1 diaphanous-related formin 1 4.0
WDR4 WD repeat domain 4 4.0
PHF6 PHD finger protein 6 4.0
CERS1 ceramide synthase 1 4.0
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 4.0
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1 4.0
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 4.0
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin 4.0
ZNHIT3 zinc finger, HIT-type containing 3 4.0
LMNB2 lamin B2 4.0
LAGE3 L antigen family, member 3 4.0
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 4.0
CUX2 cut-like homeobox 2 4.0
FRRS1L ferric-chelate reductase 1-like 4.0
KCNK4 potassium channel, two pore domain subfamily K, member 4 4.0
EFHC1 EF-hand domain (C-terminal) containing 1 4.0
CNPY3 canopy FGF signaling regulator 3 4.0
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 4.0
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 4.0
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 4.0
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4.0
SYN1 synapsin I 4.0
PNPO pyridoxamine 5'-phosphate oxidase 4.0
KCNT2 potassium channel, sodium activated subfamily T, member 2 4.0
PCDH19 protocadherin 19 4.0
SCN1B sodium channel, voltage gated, type I beta subunit 4.0
SLC38A3 solute carrier family 38, member 3 4.0
DCX doublecortin 4.0
EEF1A2 eukaryotic translation elongation factor 1 alpha 2 4.0
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2 4.0
WWOX WW domain containing oxidoreductase 4.0
CYFIP2 cytoplasmic FMR1 interacting protein 2 4.0
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 4.0
NUP107 nucleoporin 107kDa 4.0
ADSL adenylosuccinate lyase 4.0
ADRA2B adrenoceptor alpha 2B 4.0
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 4.0
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 4.0
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 4.0
TRAPPC6B trafficking protein particle complex 6B 4.0
PHACTR1 phosphatase and actin regulator 1 4.0
UFSP2 UFM1-specific peptidase 2 4.0
SCN1A sodium channel, voltage gated, type I alpha subunit 4.0
UBA5 ubiquitin-like modifier activating enzyme 5 4.0
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) 4.0
PCDH12 protocadherin 12 4.0
CHKA choline kinase alpha 4.0
SLC45A1 solute carrier family 45, member 1 4.0
DALRD3 DALR anticodon binding domain containing 3 4.0
SLC31A1 solute carrier family 31 (copper transporter), member 1 4.0
UGDH UDP-glucose 6-dehydrogenase 4.0
RELN reelin 4.0
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 4.0
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 4.0
PTPN23 protein tyrosine phosphatase, non-receptor type 23 4.0
SCN9A sodium channel, voltage gated, type IX alpha subunit 4.0
EXT2 exostosin glycosyltransferase 2 4.0
TRAK1 trafficking protein, kinesin binding 1 4.0
DOCK7 dedicator of cytokinesis 7 4.0
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma 4.0
GLUL glutamate-ammonia ligase 4.0
NSRP1 nuclear speckle splicing regulatory protein 1 4.0
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D 4.0
EXOC8 exocyst complex component 8 4.0
EXOC7 exocyst complex component 7 4.0
CNTN2 contactin 2 (axonal) 4.0
MAST3 microtubule associated serine/threonine kinase 3 4.0
DEAF1 DEAF1 transcription factor 4.0
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 4.0
TMEM222 transmembrane protein 222 4.0
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 4.0
GRM7 glutamate receptor, metabotropic 7 4.0
TSC2 tuberous sclerosis 2 4.0
CSNK2B casein kinase 2, beta polypeptide 4.0
CSTB cystatin B (stefin B) 4.0
TCF4 transcription factor 4 4.0
NEUROD2 neuronal differentiation 2 4.0
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 4.0
CRELD1 cysteine-rich with EGF-like domains 1 4.0
POLG polymerase (DNA directed), gamma 4.0
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 4.0
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 4.0
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 4.0
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 4.0
CHD5 chromodomain helicase DNA binding protein 5 4.0
CHD2 chromodomain helicase DNA binding protein 2 4.0
CLCN2 chloride channel, voltage-sensitive 2 4.0
CLCN3 chloride channel, voltage-sensitive 3 4.0
CPLX1 complexin 1 4.0
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide 4.0
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 4.0
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 4.0
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 4.0
SNF8 SNF8, ESCRT-II complex subunit 4.0
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 4.0
TPP1 tripeptidyl peptidase I 4.0
SCN8A sodium channel, voltage gated, type VIII alpha subunit 4.0
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 4.0
PRDM8 PR domain containing 8 4.0
SETD1B SET domain containing 1B 4.0
SETD1A SET domain containing 1A 4.0
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 4.0
PUM1 pumilio RNA-binding family member 1 4.0
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 4.0
FGF12 fibroblast growth factor 12 4.0
FGF13 fibroblast growth factor 13 4.0
PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) 4.0
IRF2BPL interferon regulatory factor 2 binding protein-like 4.0
TRAPPC2L trafficking protein particle complex 2-like 4.0
SCN3A sodium channel, voltage gated, type III alpha subunit 4.0
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 4.0
TNRC6A trinucleotide repeat containing 6A 4.0
BCKDK branched chain ketoacid dehydrogenase kinase 4.0
AGO1 argonaute RISC catalytic component 1 4.0
WDR73 WD repeat domain 73 4.0
WDR45B WD repeat domain 45B 4.0
ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 4.0
RORA RAR-related orphan receptor A 4.0
RORB RAR-related orphan receptor B 4.0
ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c 4.0
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 4.0
CLN5 ceroid-lipofuscinosis, neuronal 5 4.0
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 4.0
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit 4.0
TSC1 tuberous sclerosis 1 4.0
KCTD7 potassium channel tetramerization domain containing 7 4.0
ADAM22 ADAM metallopeptidase domain 22 4.0
CASR calcium-sensing receptor 4.0
GRIK2 glutamate receptor, ionotropic, kainate 2 4.0
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 4.0
SLC7A6OS solute carrier family 7, member 6 opposite strand 4.0
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 4.0
SZT2 seizure threshold 2 homolog (mouse) 4.0
NUP133 nucleoporin 133kDa 4.0
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1 4.0
KCNH5 potassium channel, voltage gated eag related subfamily H, member 5 4.0
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 4.0
TRPM3 transient receptor potential cation channel, subfamily M, member 3 4.0
MTOR mechanistic target of rapamycin (serine/threonine kinase) 4.0