idiopathic generalized 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 generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (Human Disease Ontology, DOID_1827)
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Genes

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

Symbol Name Standardized Value
SCN1A sodium channel, voltage gated, type I alpha subunit 2.84807
SCN1B sodium channel, voltage gated, type I beta subunit 2.53309
EFHC1 EF-hand domain (C-terminal) containing 1 2.47158
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 2.46896
SCN8A sodium channel, voltage gated, type VIII alpha subunit 2.2627
SCN3A sodium channel, voltage gated, type III alpha subunit 2.25795
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 1.9483
CLCN2 chloride channel, voltage-sensitive 2 1.88805
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.87102
SCN2A sodium channel, voltage gated, type II alpha subunit 1.70406
JRK Jrk homolog (mouse) 1.68634
ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial 1.54716
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.50359
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 1.46935
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 1.45485
BRD2 bromodomain containing 2 1.45265
CACNG3 calcium channel, voltage-dependent, gamma subunit 3 1.34025
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.30794
PCDHA8 protocadherin alpha 8 1.21695
LGI1 leucine-rich, glioma inactivated 1 1.20959
EPM2AIP1 EPM2A (laforin) interacting protein 1 1.20699
LGI4 leucine-rich repeat LGI family, member 4 1.19748
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 1.18152
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.15794
LRRC1 leucine rich repeat containing 1 1.1473
SCN2B sodium channel, voltage gated, type II beta subunit 1.14136
KCNMB3 potassium channel subfamily M regulatory beta subunit 3 1.13459
TMEM14A transmembrane protein 14A 1.09755
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1.08705
TAAR5 trace amine associated receptor 5 1.07068
VRK2 vaccinia related kinase 2 1.06942
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 1.0442
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2 1.04377
PAQR8 progestin and adipoQ receptor family member VIII 1.02482
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.0168
FBXO9 F-box protein 9 1.01469
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3 1.01132
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.00077
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 0.987693
TRAM2 translocation associated membrane protein 2 0.980531
GRIK1 glutamate receptor, ionotropic, kainate 1 0.980531
ADGRV1 adhesion G protein-coupled receptor V1 0.979268
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.974221
MTMR7 myotubularin related protein 7 0.9696
TCTE1 t-complex-associated-testis-expressed 1 0.940364
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 0.936214
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.90732
PTPRB protein tyrosine phosphatase, receptor type, B 0.889668
MTMR9 myotubularin related protein 9 0.887618
EFHC2 EF-hand domain (C-terminal) containing 2 0.861818
STX7 syntaxin 7 0.849536
NFASC neurofascin 0.824128
HLA-F major histocompatibility complex, class I, F 0.815514
HCG4P11 HLA complex group 4 pseudogene 11 0.815514
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.80977
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 0.808949
CLASP2 cytoplasmic linker associated protein 2 0.808539
SGCZ sarcoglycan, zeta 0.801974
SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 0.795821
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 0.788033
TRAK1 trafficking protein, kinesin binding 1 0.783526
SLC4A3 solute carrier family 4 (anion exchanger), member 3 0.783116
PDCD6IP programmed cell death 6 interacting protein 0.770027
PRRT2 proline-rich transmembrane protein 2 0.751678
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.720461
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.716425
PCDH7 protocadherin 7 0.713198
KCNT1 potassium channel, sodium activated subfamily T, member 1 0.712392
SYT11 synaptotagmin XI 0.709975
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9 0.699919
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 0.689893
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.678302
SCN4B sodium channel, voltage gated, type IV beta subunit 0.67551
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.67551
SCN3B sodium channel, voltage gated, type III beta subunit 0.67113
ACP1 acid phosphatase 1, soluble 0.647743
FLII flightless I homolog (Drosophila) 0.636708
NFU1 NFU1 iron-sulfur cluster scaffold 0.635921
NRXN1 neurexin 1 0.632384
WTAP Wilms tumor 1 associated protein 0.630027
TK2 thymidine kinase 2, mitochondrial 0.60108
CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal) 0.597181
ELOVL5 ELOVL fatty acid elongase 5 0.596792
DNER delta/notch-like EGF repeat containing 0.588612
PARD3 par-3 family cell polarity regulator 0.586665
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 0.576161
CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) 0.572273
PNPO pyridoxamine 5'-phosphate oxidase 0.571884
CENPB centromere protein B, 80kDa 0.566443
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.557509
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.542767
OPRM1 opioid receptor, mu 1 0.51534
GRM8 glutamate receptor, metabotropic 8 0.509959
SYN2 synapsin II 0.509576
GRM7 glutamate receptor, metabotropic 7 0.508424
PCDH19 protocadherin 19 0.496939
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.495411
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 0.495029
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.468441
PFKL phosphofructokinase, liver 0.452208
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 0.430768
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 0.422515
SYN3 synapsin III 0.420266
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 0.415773
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.409787
PCDH11Y protocadherin 11 Y-linked 0.405678
GJD2 gap junction protein, delta 2, 36kDa 0.392257
GPHN gephyrin 0.390025
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4 0.372587
MCM3 minichromosome maintenance complex component 3 0.370737
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 0.365562
PCDH11X protocadherin 11 X-linked 0.362239
WASF3 WAS protein family, member 3 0.360395
ARX aristaless related homeobox 0.353763
GRM4 glutamate receptor, metabotropic 4 0.339073
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.32701
ANKH ANKH inorganic pyrophosphate transport regulator 0.309566
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 0.299092
SLC45A2 solute carrier family 45, member 2 0.286519
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.284728
COL6A2 collagen, type VI, alpha 2 0.261245
RGMA repulsive guidance molecule family member a 0.255946
APTX aprataxin 0.254536
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 0.219057
DCLK3 doublecortin-like kinase 3 0.210253
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.209583
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 0.206248
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.202946
FANCL Fanconi anemia, complementation group L 0.193915
WARS tryptophanyl-tRNA synthetase 0.191097
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 0.190786
CAV2 caveolin 2 0.18621
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.185612
SHMT1 serine hydroxymethyltransferase 1 (soluble) 0.176485
HRAS Harvey rat sarcoma viral oncogene homolog 0.172544
SARS seryl-tRNA synthetase 0.170544
F13A1 coagulation factor XIII, A1 polypeptide 0.167224
FOXG1 forkhead box G1 0.165001
CBS cystathionine-beta-synthase 0.158434
TNC tenascin C 0.14407
FBXO17 F-box protein 17 0.143924