Epileptic Encephalopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0543888
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Genes

221 genes associated with the disease Epileptic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS1 alanyl-tRNA synthetase 1
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACHE acetylcholinesterase (Yt blood group)
ACTL6B actin-like 6B
ADAM22 ADAM metallopeptidase domain 22
ADRA1D adrenoceptor alpha 1D
ADSL adenylosuccinate lyase
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG9 ALG9, alpha-1,2-mannosyltransferase
AP2M1 adaptor-related protein complex 2, mu 1 subunit
AP3B2 adaptor-related protein complex 3, beta 2 subunit
ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARV1 ARV1 homolog (S. cerevisiae)
ARX aristaless related homeobox
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP7B ATPase, Cu++ transporting, beta polypeptide
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BOLA3 bolA family member 3
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF65 chromosome 12 open reading frame 65
C17ORF100 chromosome 17 open reading frame 100
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
CDKL5 cyclin-dependent kinase-like 5
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHD2 chromodomain helicase DNA binding protein 2
CIZ1 CDKN1A interacting zinc finger protein 1
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
CNPY3 canopy FGF signaling regulator 3
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COQ8A coenzyme Q8A
CPLX1 complexin 1
CSNK1E casein kinase 1, epsilon
CUX2 cut-like homeobox 2
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
DENND5A DENN/MADD domain containing 5A
DHDDS dehydrodolichyl diphosphate synthase
DNM1 dynamin 1
DNM1L dynamin 1-like
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
E2F1 E2F transcription factor 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EPHA5 EPH receptor A5
EPRS1 glutamyl-prolyl-tRNA synthetase 1
FAM134B family with sequence similarity 134, member B
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FGF12 fibroblast growth factor 12
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXG1 forkhead box G1
FOXM1 forkhead box M1
FRRS1L ferric-chelate reductase 1-like
FUK fucokinase
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GLS glutaminase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB5 guanine nucleotide binding protein (G protein), beta 5
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
GPHN gephyrin
GPR55 G protein-coupled receptor 55
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GUF1 GUF1 GTPase homolog (S. cerevisiae)
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HDAC4 histone deacetylase 4
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
IGF1 insulin-like growth factor 1 (somatomedin C)
IQSEC2 IQ motif and Sec7 domain 2
IRF2BPL interferon regulatory factor 2 binding protein-like
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCNT2 potassium channel, sodium activated subfamily T, member 2
KCTD3 potassium channel tetramerization domain containing 3
LOC101060233 medium-wave-sensitive opsin 1
LOC400927-CSNK1E LOC400927-CSNK1E readthrough
MADD MAP-kinase activating death domain
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAPK10 mitogen-activated protein kinase 10
MBD5 methyl-CpG binding domain protein 5
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MFF mitochondrial fission factor
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta
ND1
NECAP1 NECAP endocytosis associated 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEUROD2 neuronal differentiation 2
NFE2L2 nuclear factor, erythroid 2-like 2
NRXN1 neurexin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUFIP2 nuclear fragile X mental retardation protein interacting protein 2
NUP214 nucleoporin 214kDa
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
PACS2 phosphofurin acidic cluster sorting protein 2
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PCDH19 protocadherin 19
PHACTR1 phosphatase and actin regulator 1
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PLAA phospholipase A2-activating protein
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNKP polynucleotide kinase 3'-phosphatase
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRICKLE1 prickle homolog 1 (Drosophila)
PRRT2 proline-rich transmembrane protein 2
PTPN23 protein tyrosine phosphatase, non-receptor type 23
PVALB parvalbumin
QARS1 glutaminyl-tRNA synthetase 1
RARS1 arginyl-tRNA synthetase 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RHOBTB2 Rho-related BTB domain containing 2
RNF13 ring finger protein 13
ROGDI rogdi homolog (Drosophila)
RPS19 ribosomal protein S19
RYR3 ryanodine receptor 3
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN7A sodium channel, voltage gated, type VII alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SIK1 salt-inducible kinase 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SNX27 sorting nexin family member 27
SOX5 SRY (sex determining region Y)-box 5
SPATA5 spermatogenesis associated 5
SPTAN1 spectrin, alpha, non-erythrocytic 1
SST somatostatin
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
THOC2 THO complex 2
TLR1 toll-like receptor 1
TRAK1 trafficking protein, kinesin binding 1
TRIM8 tripartite motif containing 8
TRIT1 tRNA isopentenyltransferase 1
TSPYL4 TSPY-like 4
TWNK twinkle mtDNA helicase
UBA5 ubiquitin-like modifier activating enzyme 5
UGDH UDP-glucose 6-dehydrogenase
UGP2 UDP-glucose pyrophosphorylase 2
USP19 ubiquitin specific peptidase 19
USP6 ubiquitin specific peptidase 6
USP9X ubiquitin specific peptidase 9, X-linked
VARS valyl-tRNA synthetase
VARS2 valyl-tRNA synthetase 2, mitochondrial
VIP vasoactive intestinal peptide
WASF1 WAS protein family, member 1
WDR45 WD repeat domain 45
WWOX WW domain containing oxidoreductase
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZNF292 zinc finger protein 292