Awakening 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/C0751111
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Genes

83 genes associated with the disease Awakening 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
ADRA2A adrenoceptor alpha 2A
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL3 additional sex combs like transcriptional regulator 3
AUTS2 autism susceptibility candidate 2
BDNF brain-derived neurotrophic factor
CDKL5 cyclin-dependent kinase-like 5
CERT1 ceramide transporter 1
CHD2 chromodomain helicase DNA binding protein 2
CHRM1 cholinergic receptor, muscarinic 1
CHRM2 cholinergic receptor, muscarinic 2
CNTNAP2 contactin associated protein-like 2
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DNM1 dynamin 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
ERN1 endoplasmic reticulum to nucleus signaling 1
FLNA filamin A, alpha
FOLR1 folate receptor 1 (adult)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXG1 forkhead box G1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GFAP glial fibrillary acidic protein
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPX1 glutathione peroxidase 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRM1 glutamate receptor, metabotropic 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
ILK integrin-linked kinase
IQSEC2 IQ motif and Sec7 domain 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KIAA2022 KIAA2022
L2HGDH L-2-hydroxyglutarate dehydrogenase
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
NPY neuropeptide Y
NPY2R neuropeptide Y receptor Y2
OPRD1 opioid receptor, delta 1
OPRM1 opioid receptor, mu 1
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
PCDH19 protocadherin 19
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PURA purine-rich element binding protein A
RAB39B RAB39B, member RAS oncogene family
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
SEPW1 selenoprotein W, 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLCO1A2 solute carrier organic anion transporter family, member 1A2
SMC1A structural maintenance of chromosomes 1A
SNAP25 synaptosomal-associated protein, 25kDa
SPARCL1 SPARC-like 1 (hevin)
STAMBP STAM binding protein
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TGFB1 transforming growth factor, beta 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TXNRD1 thioredoxin reductase 1
UBE3A ubiquitin protein ligase E3A
VDAC1 voltage-dependent anion channel 1
VDAC2 voltage-dependent anion channel 2
WDR45 WD repeat domain 45