Drug Resistant Epilepsy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1096063
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Genes

171 genes associated with the disease Drug Resistant Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
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)
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADK adenosine kinase
AGER advanced glycosylation end product-specific receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
APOE apolipoprotein E
ARX aristaless related homeobox
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBR1 carbonyl reductase 1
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CDK5 cyclin-dependent kinase 5
CDKL5 cyclin-dependent kinase-like 5
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLOCK clock circadian regulator
CNN3 calponin 3, acidic
COMT catechol-O-methyltransferase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCL13 chemokine (C-X-C motif) ligand 13
CXCR5 chemokine (C-X-C motif) receptor 5
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DNM1L dynamin 1-like
DSCAM Down syndrome cell adhesion molecule
EFHC1 EF-hand domain (C-terminal) containing 1
EIF4E eukaryotic translation initiation factor 4E
EPO erythropoietin
EPRS1 glutamyl-prolyl-tRNA synthetase 1
FAM20C family with sequence similarity 20, member C
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXO28 F-box protein 28
FOXD3 forkhead box D3
FOXG1 forkhead box G1
FPR2 formyl peptide receptor 2
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLO1 glyoxalase I
GORASP1 golgi reassembly stacking protein 1, 65kDa
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRM1 glutamate receptor, metabotropic 1
GRM2 glutamate receptor, metabotropic 2
GRM3 glutamate receptor, metabotropic 3
GSR glutathione reductase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGB1 high mobility group box 1
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HPSE heparanase
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSPBAP1 HSPB (heat shock 27kDa) associated protein 1
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL6 interleukin 6
INSR insulin receptor
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNT1 potassium channel, sodium activated subfamily T, member 1
KEAP1 kelch-like ECH-associated protein 1
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LEP leptin
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LOC101060233 medium-wave-sensitive opsin 1
LRP2 low density lipoprotein receptor-related protein 2
MAP2 microtubule-associated protein 2
MCF2L MCF.2 cell line derived transforming sequence-like
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
MED23 mediator complex subunit 23
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MVP major vault protein
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative)
NFE2L2 nuclear factor, erythroid 2-like 2
NR1I2 nuclear receptor subfamily 1, group I, member 2
NT5C 5', 3'-nucleotidase, cytosolic
NTNG1 netrin G1
NTNG2 netrin G2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PANX1 pannexin 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PROS1 protein S (alpha)
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
QARS1 glutaminyl-tRNA synthetase 1
RALBP1 ralA binding protein 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REST RE1-silencing transcription factor
RHEB Ras homolog enriched in brain
RND2 Rho family GTPase 2
ROM1 retinal outer segment membrane protein 1
RPS6 ribosomal protein S6
SACM1L SAC1 suppressor of actin mutations 1-like (yeast)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGK1 serum/glucocorticoid regulated kinase 1
SLA Src-like-adaptor
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
STRADA STE20-related kinase adaptor alpha
SV2A synaptic vesicle glycoprotein 2A
SYNJ1 synaptojanin 1
SYT1 synaptotagmin I
TBC1D24 TBC1 domain family, member 24
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TDP2 tyrosyl-DNA phosphodiesterase 2
TGFB1 transforming growth factor, beta 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP4 TIMP metallopeptidase inhibitor 4
TLR7 toll-like receptor 7
TNF tumor necrosis factor
TREM2 triggering receptor expressed on myeloid cells 2
TRIM27 tripartite motif containing 27
TRIO trio Rho guanine nucleotide exchange factor
TSC2 tuberous sclerosis 2
TYR tyrosinase
UBA5 ubiquitin-like modifier activating enzyme 5
VIP vasoactive intestinal peptide
WAS Wiskott-Aldrich syndrome
WNK1 WNK lysine deficient protein kinase 1
ZDHHC3 zinc finger, DHHC-type containing 3