Epilepsy Gene Set

Dataset DISEASES Experimental 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

74 genes associated with the disease Epilepsy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
SCN1A sodium channel, voltage gated, type I alpha subunit 1.873
TTC21B tetratricopeptide repeat domain 21B 1.787
SCN9A sodium channel, voltage gated, type IX alpha subunit 1.599
GMPS guanine monphosphate synthase 1.494
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 1.494
MISO1 mitochondrial inner membrane subdomain organizer 1 1.494
PLCH1 phospholipase C, eta 1 1.494
ASS1 argininosuccinate synthase 1 1.189
FUBP3 far upstream element (FUSE) binding protein 3 1.189
HMCN2 hemicentin 2 1.189
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1.164
INAVA innate immunity activator 1.164
GPR25 G protein-coupled receptor 25 1.164
PCDH7 protocadherin 7 1.156
NFE2L1 nuclear factor, erythroid 2-like 1 1.146
SNX11 sorting nexin 11 1.146
CBX1 chromobox homolog 1 1.146
PRR15L proline rich 15-like 1.146
COPZ2 coatomer protein complex, subunit zeta 2 1.146
CDK5RAP3 CDK5 regulatory subunit associated protein 3 1.146
SKAP1 src kinase associated phosphoprotein 1 1.146
PNPO pyridoxamine 5'-phosphate oxidase 1.146
JPT2 Jupiter microtubule associated homolog 2 1.131
CRAMP1 cramped chromatin regulator homolog 1 1.131
IFT140 intraflagellar transport 140 1.131
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 1.131
MMP27 matrix metallopeptidase 27 1.128
MMP8 matrix metallopeptidase 8 1.128
MMP20 matrix metallopeptidase 20 1.128
MMP1 matrix metallopeptidase 1 1.128
MMP10 matrix metallopeptidase 10 1.128
PTPRK protein tyrosine phosphatase, receptor type, K 1.073
THEMIS thymocyte selection associated 1.073
SP2 Sp2 transcription factor 1.059
SP6 Sp6 transcription factor 1.059
CHRM3 cholinergic receptor, muscarinic 3 1.03
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 0.929
ATAD2B ATPase family, AAA domain containing 2B 0.929
GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 0.929
KLHL29 kelch-like family member 29 0.929
SAMD12 sterile alpha motif domain containing 12 0.865
MED30 mediator complex subunit 30 0.865
EXT1 exostosin glycosyltransferase 1 0.865
VRK2 vaccinia related kinase 2 0.637
TRIM36 tripartite motif containing 36 0.576
KLHL9 kelch-like family member 9 0.573
IFNA1 interferon, alpha 1 0.573
IFNA2 interferon, alpha 2 0.573
IFNA13 interferon, alpha 13 0.573
IFNA5 interferon, alpha 5 0.573
IFNA8 interferon, alpha 8 0.573
IFNA6 interferon, alpha 6 0.573
KRTAP21-3 keratin associated protein 21-3 0.57
KRTAP11-1 keratin associated protein 11-1 0.57
KRTAP21-2 keratin associated protein 21-2 0.57
KRTAP8-1 keratin associated protein 8-1 0.57
KRTAP7-1 keratin associated protein 7-1 (gene/pseudogene) 0.57
KRTAP21-1 keratin associated protein 21-1 0.57
ZEB2 zinc finger E-box binding homeobox 2 0.569
TBC1D32 TBC1 domain family, member 32 0.568
GRM3 glutamate receptor, metabotropic 3 0.563
STMND1 stathmin domain containing 1 0.563
ADPGK ADP-dependent glucokinase 0.541
BBS4 Bardet-Biedl syndrome 4 0.541
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.536
CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 0.534
HEATR3 HEAT repeat containing 3 0.534
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.518
NEMP2 nuclear envelope integral membrane protein 2 0.515
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 0.515
GLS glutaminase 0.515
KIAA2012 KIAA2012 0.504
FZD7 frizzled class receptor 7 0.504
CDK15 cyclin-dependent kinase 15 0.504