Childhood Absence Epilepsy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (Human Disease Ontology, DOID_1825)
External Link https://www.disgenet.org/browser/0/1/0/C4281785
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Genes

31 genes associated with the disease Childhood Absence 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
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CAV3 caveolin 3
CLCN2 chloride channel, voltage-sensitive 2
EFHC1 EF-hand domain (C-terminal) containing 1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
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
GJA8 gap junction protein, alpha 8, 50kDa
GRM4 glutamate receptor, metabotropic 4
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
JRK Jrk homolog (mouse)
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3
LGI4 leucine-rich repeat LGI family, member 4
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NOTCH1 notch 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TRAK1 trafficking protein, kinesin binding 1