epilepsy syndrome Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (Human Disease Ontology, DOID_1826)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:1826
Similar Terms
Downloads & Tools

Genes

128 genes associated with the disease epilepsy syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1.42467
CHRM3 cholinergic receptor, muscarinic 3 1.35834
MAST4 microtubule associated serine/threonine kinase family member 4 1.26953
C6ORF7 chromosome 6 open reading frame 7 1.26953
PTPRD protein tyrosine phosphatase, receptor type, D 1.26953
GSTA4 glutathione S-transferase alpha 4 1.22525
ADCY9 adenylate cyclase 9 1.19386
LOC285423 uncharacterized LOC285423 1.19386
ADAM12 ADAM metallopeptidase domain 12 1.15881
GOLGA8H golgin A8 family, member H 1.12333
ADGRL3 adhesion G protein-coupled receptor L3 1.10764
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 1.08598
SCN1A sodium channel, voltage gated, type I alpha subunit 1.07599
EYA4 EYA transcriptional coactivator and phosphatase 4 1.06723
ZNF385D zinc finger protein 385D 1.04846
GRIK2 glutamate receptor, ionotropic, kainate 2 1.03718
RNF115 ring finger protein 115 1.02476
PDE7A phosphodiesterase 7A 1.0024
PRKCB protein kinase C, beta 0.972732
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 0.971169
FBLN2 fibulin 2 0.949336
DSCAM Down syndrome cell adhesion molecule 0.945129
MYRIP myosin VIIA and Rab interacting protein 0.929316
LOC100288637 OTU deubiquitinase 7A pseudogene 0.92437
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.923572
ARHGAP11B Rho GTPase activating protein 11B 0.921998
YBX3 Y box binding protein 3 0.918934
ZNF71 zinc finger protein 71 0.905653
GRID2 glutamate receptor, ionotropic, delta 2 0.903565
POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) 0.89953
MOGAT1 monoacylglycerol O-acyltransferase 1 0.88034
LINC00299 long intergenic non-protein coding RNA 299 0.87232
CD160 CD160 molecule 0.87015
PALD1 phosphatase domain containing, paladin 1 0.863933
LOC100652840 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene 0.858397
AFF3 AF4/FMR2 family, member 3 0.854796
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.841599
KIAA0040 KIAA0040 0.837296
ZNF282 zinc finger protein 282 0.834806
SEC23A Sec23 homolog A (S. cerevisiae) 0.832779
ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 0.818753
YJEFN3 YjeF N-terminal domain containing 3 0.817591
NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 0.815684
HKDC1 hexokinase domain containing 1 0.814185
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.800621
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 0.79917
CYB5A cytochrome b5 type A (microsomal) 0.78104
KIRREL3 kin of IRRE like 3 (Drosophila) 0.774598
B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 0.767882
YEATS2 YEATS domain containing 2 0.764948
DPYD dihydropyrimidine dehydrogenase 0.760414
GATAD2A GATA zinc finger domain containing 2A 0.756598
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.756331
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.75112
GRIK1 glutamate receptor, ionotropic, kainate 1 0.750866
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 0.747619
CILP2 cartilage intermediate layer protein 2 0.747619
TSSK6 testis-specific serine kinase 6 0.747128
ZNF385B zinc finger protein 385B 0.74567
TSPAN9 tetraspanin 9 0.738443
C1ORF174 chromosome 1 open reading frame 174 0.737994
GRID1 glutamate receptor, ionotropic, delta 1 0.735508
MTCL1 microtubule crosslinking factor 1 0.73454
C10ORF11 chromosome 10 open reading frame 11 0.727538
TACC1 transforming, acidic coiled-coil containing protein 1 0.724637
LOC388813 uncharacterized protein ENSP00000383407-like 0.721812
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.721383
MIR99AHG mir-99a-let-7c cluster host gene 0.720957
P2RY12 purinergic receptor P2Y, G-protein coupled, 12 0.717191
PRKCA protein kinase C, alpha 0.716986
SRRM4 serine/arginine repetitive matrix 4 0.711195
NOL4 nucleolar protein 4 0.710228
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.708888
LAMA2 laminin, alpha 2 0.708698
FGF13 fibroblast growth factor 13 0.706444
PTPRS protein tyrosine phosphatase, receptor type, S 0.706444
USP40 ubiquitin specific peptidase 40 0.704601
KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 0.70279
NR5A2 nuclear receptor subfamily 5, group A, member 2 0.699619
IQSEC1 IQ motif and Sec7 domain 1 0.698242
COL22A1 collagen, type XXII, alpha 1 0.694381
CCDC129 coiled-coil domain containing 129 0.690184
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.683452
CCDC69 coiled-coil domain containing 69 0.679391
ZNF815P zinc finger protein 815, pseudogene 0.67742
TCF4 transcription factor 4 0.676725
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 0.67173
CNPY3 canopy FGF signaling regulator 3 0.670258
PVT1 Pvt1 oncogene (non-protein coding) 0.669341
ADAM10 ADAM metallopeptidase domain 10 0.668836
LRRC4C leucine rich repeat containing 4C 0.667834
TECPR1 tectonin beta-propeller repeat containing 1 0.652472
ERBB4 erb-b2 receptor tyrosine kinase 4 0.648464
ASTN2 astrotactin 2 0.64367
SPEF2 sperm flagellar 2 0.64313
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 0.639476
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 0.638972
BICD1 bicaudal D homolog 1 (Drosophila) 0.634147
RORA RAR-related orphan receptor A 0.633685
THOC1 THO complex 1 0.630986
ST18 suppression of tumorigenicity 18, zinc finger 0.6293
PRDM16 PR domain containing 16 0.624172
LOC100506422 putative deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 0.619466
ARHGAP26 Rho GTPase activating protein 26 0.618434
SH3RF1 SH3 domain containing ring finger 1 0.615445
AJAP1 adherens junctions associated protein 1 0.613722
SAMD14 sterile alpha motif domain containing 14 0.606266
COLEC12 collectin sub-family member 12 0.597094
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 0.596524
BAIAP2L1 BAI1-associated protein 2-like 1 0.588551
LSAMP limbic system-associated membrane protein 0.587316
AK5 adenylate kinase 5 0.583751
PCDH15 protocadherin-related 15 0.583062
NGF nerve growth factor (beta polypeptide) 0.577723
TENM2 teneurin transmembrane protein 2 0.577268
OSBPL10 oxysterol binding protein-like 10 0.576816
GLIPR2 GLI pathogenesis-related 2 0.575479
ZNF521 zinc finger protein 521 0.574169
VLDLR very low density lipoprotein receptor 0.565864
FAM135B family with sequence similarity 135, member B 0.563808
KDM3A lysine (K)-specific demethylase 3A 0.562068
GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) 0.559415
CXADR coxsackie virus and adenovirus receptor 0.559045
LRRK2 leucine-rich repeat kinase 2 0.557764
AKNA AT-hook transcription factor 0.547071
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.542744
FGF12 fibroblast growth factor 12 0.519698
VRK1 vaccinia related kinase 1 0.499223