seizures Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. (Human Phenotype Ontology, HP_0001250)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001250
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Genes

134 genes associated with the seizures phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
SCN1A sodium channel, voltage gated, type I alpha subunit 1.30781
CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1.24751
CHRM3 cholinergic receptor, muscarinic 3 1.18704
C6ORF7 chromosome 6 open reading frame 7 1.11203
PTPRD protein tyrosine phosphatase, receptor type, D 1.11203
MAST4 microtubule associated serine/threonine kinase family member 4 1.11203
GSTA4 glutathione S-transferase alpha 4 1.07243
ADCY9 adenylate cyclase 9 1.04365
LOC285423 uncharacterized LOC285423 1.04365
ADAM12 ADAM metallopeptidase domain 12 1.01219
GOLGA8H golgin A8 family, member H 0.982743
ADGRL3 adhesion G protein-coupled receptor L3 0.969142
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 0.950563
EYA4 EYA transcriptional coactivator and phosphatase 4 0.935117
ZNF385D zinc finger protein 385D 0.919744
GRIK2 glutamate receptor, ionotropic, kainate 2 0.910257
RNF115 ring finger protein 115 0.899912
PDE7A phosphodiesterase 7A 0.881551
PRKCB protein kinase C, beta 0.856777
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 0.855449
FBLN2 fibulin 2 0.836232
DSCAM Down syndrome cell adhesion molecule 0.832497
MYRIP myosin VIIA and Rab interacting protein 0.818279
LOC100288637 OTU deubiquitinase 7A pseudogene 0.813733
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.81297
ARHGAP11B Rho GTPase activating protein 11B 0.811465
YBX3 Y box binding protein 3 0.808534
ZNF71 zinc finger protein 71 0.7965
GRID2 glutamate receptor, ionotropic, delta 2 0.794657
POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) 0.791087
MOGAT1 monoacylglycerol O-acyltransferase 1 0.772842
LINC00299 long intergenic non-protein coding RNA 299 0.765722
CD160 CD160 molecule 0.763536
PALD1 phosphatase domain containing, paladin 1 0.757258
LOC100652840 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene 0.751857
AFF3 AF4/FMR2 family, member 3 0.748581
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.736319
KIAA0040 KIAA0040 0.731918
ZNF282 zinc finger protein 282 0.729372
SEC23A Sec23 homolog A (S. cerevisiae) 0.7273
ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 0.714303
YJEFN3 YjeF N-terminal domain containing 3 0.713239
NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 0.711491
HKDC1 hexokinase domain containing 1 0.710116
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.696351
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 0.695039
CYB5A cytochrome b5 type A (microsomal) 0.678437
KIRREL3 kin of IRRE like 3 (Drosophila) 0.671914
B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 0.665245
YEATS2 YEATS domain containing 2 0.662592
DPYD dihydropyrimidine dehydrogenase 0.658487
GATAD2A GATA zinc finger domain containing 2A 0.655029
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.654787
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.65006
GRIK1 glutamate receptor, ionotropic, kainate 1 0.649829
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 0.646616
CILP2 cartilage intermediate layer protein 2 0.646616
TSSK6 testis-specific serine kinase 6 0.646119
ZNF385B zinc finger protein 385B 0.644641
TSPAN9 tetraspanin 9 0.637318
C1ORF174 chromosome 1 open reading frame 174 0.636862
GRID1 glutamate receptor, ionotropic, delta 1 0.634393
MTCL1 microtubule crosslinking factor 1 0.63351
C10ORF11 chromosome 10 open reading frame 11 0.627114
TACC1 transforming, acidic coiled-coil containing protein 1 0.624461
LOC388813 uncharacterized protein ENSP00000383407-like 0.621876
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.621485
MIR99AHG mir-99a-let-7c cluster host gene 0.621094
P2RY12 purinergic receptor P2Y, G-protein coupled, 12 0.617647
PRKCA protein kinase C, alpha 0.617459
SRRM4 serine/arginine repetitive matrix 4 0.611966
NOL4 nucleolar protein 4 0.611045
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 0.60977
LAMA2 laminin, alpha 2 0.609589
FGF13 fibroblast growth factor 13 0.607443
PTPRS protein tyrosine phosphatase, receptor type, S 0.607443
USP40 ubiquitin specific peptidase 40 0.605688
KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 0.603964
NR5A2 nuclear receptor subfamily 5, group A, member 2 0.600931
IQSEC1 IQ motif and Sec7 domain 1 0.599613
COL22A1 collagen, type XXII, alpha 1 0.595915
CCDC129 coiled-coil domain containing 129 0.591893
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.585507
CCDC69 coiled-coil domain containing 69 0.582099
ZNF815P zinc finger protein 815, pseudogene 0.580444
TCF4 transcription factor 4 0.57986
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 0.575658
CNPY3 canopy FGF signaling regulator 3 0.574338
PVT1 Pvt1 oncogene (non-protein coding) 0.573361
ADAM10 ADAM metallopeptidase domain 10 0.572823
LRRC4C leucine rich repeat containing 4C 0.571756
TECPR1 tectonin beta-propeller repeat containing 1 0.55667
ERBB4 erb-b2 receptor tyrosine kinase 4 0.553442
ASTN2 astrotactin 2 0.548586
SPEF2 sperm flagellar 2 0.548004
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 0.544067
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 0.543523
BICD1 bicaudal D homolog 1 (Drosophila) 0.539082
RORA RAR-related orphan receptor A 0.53868
THOC1 THO complex 1 0.536325
ST18 suppression of tumorigenicity 18, zinc finger 0.534811
PRDM16 PR domain containing 16 0.530172
LOC100506422 putative deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 0.525969
ARHGAP26 Rho GTPase activating protein 26 0.525058
SH3RF1 SH3 domain containing ring finger 1 0.522421
AJAP1 adherens junctions associated protein 1 0.521013
SAMD14 sterile alpha motif domain containing 14 0.515005
COLEC12 collectin sub-family member 12 0.507344
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 0.506901
BAIAP2L1 BAI1-associated protein 2-like 1 0.50065
LSAMP limbic system-associated membrane protein 0.49961
AK5 adenylate kinase 5 0.496606
PCDH15 protocadherin-related 15 0.496025
NGF nerve growth factor (beta polypeptide) 0.491771
TENM2 teneurin transmembrane protein 2 0.491417
OSBPL10 oxysterol binding protein-like 10 0.491065
GLIPR2 GLI pathogenesis-related 2 0.490024
ZNF521 zinc finger protein 521 0.489002
VLDLR very low density lipoprotein receptor 0.482098
FAM135B family with sequence similarity 135, member B 0.480329
KDM3A lysine (K)-specific demethylase 3A 0.478922
GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) 0.476802
CXADR coxsackie virus and adenovirus receptor 0.476506
LRRK2 leucine-rich repeat kinase 2 0.475481
AKNA AT-hook transcription factor 0.466441
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.462746
FGF12 fibroblast growth factor 12 0.443312
VRK1 vaccinia related kinase 1 0.426021
GATAD2B GATA zinc finger domain containing 2B 0.410331
SLC39A1 solute carrier family 39 (zinc transporter), member 1 0.408206
DENND4B DENN/MADD domain containing 4B 0.406588
EPB41L2 erythrocyte membrane protein band 4.1-like 2 0.406588
LOC343052 immunoglobulin superfamily, DCC subclass, member 3 pseudogene 0.406588
LOC400794 uncharacterized LOC400794 0.402177