focal epilepsy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (Human Disease Ontology, DOID_2234)
Similar Terms
Downloads & Tools

Genes

211 genes co-occuring with the disease focal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
LGI1 leucine-rich, glioma inactivated 1 2.51843
DEPDC5 DEP domain containing 5 1.95676
LGI2 leucine-rich repeat LGI family, member 2 1.88251
SCN1A sodium channel, voltage gated, type I alpha subunit 1.69769
LGI4 leucine-rich repeat LGI family, member 4 1.60726
SV2A synaptic vesicle glycoprotein 2A 1.50491
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1.4856
TRMT44 tRNA methyltransferase 44 homolog (S. cerevisiae) 1.38647
SCN1B sodium channel, voltage gated, type I beta subunit 1.38079
LGI3 leucine-rich repeat LGI family, member 3 1.36945
EMX2 empty spiracles homeobox 2 1.36248
TBC1D24 TBC1 domain family, member 24 1.35725
DCX doublecortin 1.3542
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 1.3145
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 1.29746
C9ORF41 chromosome 9 open reading frame 41 1.25428
C9ORF40 chromosome 9 open reading frame 40 1.25428
ADGRG1 adhesion G protein-coupled receptor G1 1.24819
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 1.23386
SCN3A sodium channel, voltage gated, type III alpha subunit 1.23082
ADAM22 ADAM metallopeptidase domain 22 1.21782
SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 1.20569
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 1.19186
ROGDI rogdi homolog (Drosophila) 1.15794
RELN reelin 1.15752
CNTNAP2 contactin associated protein-like 2 1.12741
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.11814
AKAP6 A kinase (PRKA) anchor protein 6 1.09377
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 1.09335
GBP6 guanylate binding protein family, member 6 1.09041
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 1.08915
SCN8A sodium channel, voltage gated, type VIII alpha subunit 1.08579
FLNA filamin A, alpha 1.0606
LRFN1 leucine rich repeat and fibronectin type III domain containing 1 1.05513
SCN2A sodium channel, voltage gated, type II alpha subunit 1.01259
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.998658
OSTF1 osteoclast stimulating factor 1 0.996127
CLCN2 chloride channel, voltage-sensitive 2 0.991909
TSC2 tuberous sclerosis 2 0.96918
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 0.962472
CPA6 carboxypeptidase A6 0.944938
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.94078
GRIK5 glutamate receptor, ionotropic, kainate 5 0.914315
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 0.897461
EPHA10 EPH receptor A10 0.886799
SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12 0.882292
EFHC1 EF-hand domain (C-terminal) containing 1 0.878195
ADAM23 ADAM metallopeptidase domain 23 0.871234
ADAM11 ADAM metallopeptidase domain 11 0.836427
GFAP glial fibrillary acidic protein 0.823308
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 0.819616
EPM2AIP1 EPM2A (laforin) interacting protein 1 0.815514
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 0.796642
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) 0.792541
RORB RAR-related orphan receptor B 0.763902
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase 0.756156
STXBP1 syntaxin binding protein 1 0.746391
ADAM28 ADAM metallopeptidase domain 28 0.737865
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 0.730571
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) 0.724907
PCDH7 protocadherin 7 0.722482
KCNT1 potassium channel, sodium activated subfamily T, member 1 0.721673
POMC proopiomelanocortin 0.70233
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.6939
PPME1 protein phosphatase methylesterase 1 0.688692
ABAT 4-aminobutyrate aminotransferase 0.688692
TPT1 tumor protein, translationally-controlled 1 0.679898
ELP4 elongator acetyltransferase complex subunit 4 0.679499
EFNA4 ephrin-A4 0.67113
SCN2B sodium channel, voltage gated, type II beta subunit 0.66755
WNT8B wingless-type MMTV integration site family, member 8B 0.662387
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y 0.661197
VRK2 vaccinia related kinase 2 0.648533
GKN1 gastrokine 1 0.637102
GAL galanin/GMAP prepropeptide 0.635528
ADGRV1 adhesion G protein-coupled receptor V1 0.617486
SRPX2 sushi-repeat containing protein, X-linked 2 0.606933
PVALB parvalbumin 0.59874
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 0.597961
TLE4 transducin-like enhancer of split 4 0.590948
SLC7A4 solute carrier family 7, member 4 0.574994
ERC1 ELKS/RAB6-interacting/CAST family member 1 0.564889
DTNA dystrobrevin, alpha 0.55518
NOVA2 neuro-oncological ventral antigen 2 0.553239
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.552851
GRM5 glutamate receptor, metabotropic 5 0.54393
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 0.538118
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 0.529608
CPLX2 complexin 2 0.520731
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 0.510344
PCDH19 protocadherin 19 0.505356
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.491978
ADK adenosine kinase 0.491215
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 0.489311
NLGN1 neuroligin 1 0.487788
BDNF brain-derived neurotrophic factor 0.484744
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 0.483604
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.479047
GLUL glutamate-ammonia ligase 0.468441
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 0.467684
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 0.465416
KCNK6 potassium channel, two pore domain subfamily K, member 6 0.445052
GRM1 glutamate receptor, metabotropic 1 0.440538
AATF apoptosis antagonizing transcription factor 0.431894
GALR1 galanin receptor 1 0.430017
SYN3 synapsin III 0.428516
GALR2 galanin receptor 2 0.427015
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 0.426265
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 0.424765
PRRT2 proline-rich transmembrane protein 2 0.42214
TSC1 tuberous sclerosis 1 0.418394
COPS2 COP9 signalosome subunit 2 0.415398
PCDH11Y protocadherin 11 Y-linked 0.414276
MGAM maltase-glucoamylase 0.413527
GRIK4 glutamate receptor, ionotropic, kainate 4 0.407172
TUBA1A tubulin, alpha 1a 0.403438
TWIST2 twist family bHLH transcription factor 2 0.402692
PDYN prodynorphin 0.398962
FOS FBJ murine osteosarcoma viral oncogene homolog 0.384822
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 0.384079
HIF3A hypoxia inducible factor 3, alpha subunit 0.382223
GRIA3 glutamate receptor, ionotropic, AMPA 3 0.38111
TRPM6 transient receptor potential cation channel, subfamily M, member 6 0.372587
PCDH11X protocadherin 11 X-linked 0.370368
SST somatostatin 0.368888
GPHN gephyrin 0.365193
LSR lipolysis stimulated lipoprotein receptor 0.365193
FKTN fukutin 0.365193
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 0.362609
ARX aristaless related homeobox 0.362239
CGA glycoprotein hormones, alpha polypeptide 0.359289
IGBP1 immunoglobulin (CD79A) binding protein 1 0.357814
MEA1 male-enhanced antigen 1 0.355972
CLIP1 CAP-GLY domain containing linker protein 1 0.348981
SYT1 synaptotagmin I 0.346777
MECR mitochondrial trans-2-enoyl-CoA reductase 0.343106
SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 0.342372
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 0.338707
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 0.337975
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.335046
CA14 carbonic anhydrase XIV 0.332487
TNNT1 troponin T type 1 (skeletal, slow) 0.331025
UBIAD1 UbiA prenyltransferase domain containing 1 0.326281
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.326281
CTXN2 cortexin 2 0.32373
ACHE acetylcholinesterase (Yt blood group) 0.321545
SEPT2 septin 2 0.318272
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.295132
CA4 carbonic anhydrase IV 0.288668
KLK8 kallikrein-related peptidase 8 0.287235
SHBG sex hormone-binding globulin 0.28294
AQP4 aquaporin 4 0.282582
CPSF3L cleavage and polyadenylation specific factor 3-like 0.275089
LXN latexin 0.272953
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 0.27153
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0.270819
BOC BOC cell adhesion associated, oncogene regulated 0.270464
COL6A2 collagen, type VI, alpha 2 0.269043
NIPBL Nipped-B homolog (Drosophila) 0.266913
VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 0.264077
MRI1 methylthioribose-1-phosphate isomerase 1 0.249608
CALB1 calbindin 1, 28kDa 0.248905
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.245046
NME1 NME/NM23 nucleoside diphosphate kinase 1 0.243995
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein 0.241895
CDKL5 cyclin-dependent kinase-like 5 0.241546
NPY neuropeptide Y 0.240497
NEFL neurofilament, light polypeptide 0.232489
PIDD1 p53-induced death domain protein 1 0.231102
SETD2 SET domain containing 2 0.22937
WDR20 WD repeat domain 20 0.220424
CAMP cathelicidin antimicrobial peptide 0.218034
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9 0.217352
S100B S100 calcium binding protein B 0.215992
DNAH8 dynein, axonemal, heavy chain 8 0.211261
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 0.205585
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 0.204263
SARS seryl-tRNA synthetase 0.203604
ADAM12 ADAM metallopeptidase domain 12 0.201962
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 0.199356
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0.198064
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 0.197742
SETD1A SET domain containing 1A 0.196779
AMPH amphiphysin 0.194548
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.194232
SYN1 synapsin I 0.189244
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.18591
NMT1 N-myristoyltransferase 1 0.180367
CD79A CD79a molecule, immunoglobulin-associated alpha 0.17952
NPS neuropeptide S 0.177301
FANCL Fanconi anemia, complementation group L 0.174354
PRRC2A proline-rich coiled-coil 2A 0.172799
FOSB FBJ murine osteosarcoma viral oncogene homolog B 0.171785
FBXO17 F-box protein 17 0.168381
OPRM1 opioid receptor, mu 1 0.162306
MAPK14 mitogen-activated protein kinase 14 0.161912
CNTN2 contactin 2 (axonal) 0.161331
ASRGL1 asparaginase like 1 0.14377
ADSL adenylosuccinate lyase 0.143731
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.14345
PFN2 profilin 2 0.143108
PROS1 protein S (alpha) 0.143006
F5 coagulation factor V (proaccelerin, labile factor) 0.141828
HBG2 hemoglobin, gamma G 0.141724
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.141699
MAOB monoamine oxidase B 0.139671
F3 coagulation factor III (thromboplastin, tissue factor) 0.139593
LMNA lamin A/C 0.1394
GHRL ghrelin/obestatin prepropeptide 0.138069
CHGA chromogranin A 0.134977
TRH thyrotropin-releasing hormone 0.132225