Absence 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/C0014553
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Genes

84 genes associated with the disease 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
ALPI alkaline phosphatase, intestinal
ALPP alkaline phosphatase, placental
BRAT1 BRCA1-associated ATM activator 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
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CANX calnexin
CAV3 caveolin 3
CD47 CD47 molecule
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNTNAP2 contactin associated protein-like 2
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFHC1 EF-hand domain (C-terminal) containing 1
EGR1 early growth response 1
ESR1 estrogen receptor 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
GFAP glial fibrillary acidic protein
GJA8 gap junction protein, alpha 8, 50kDa
GLUD1 glutamate dehydrogenase 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRM1 glutamate receptor, metabotropic 1
GRM4 glutamate receptor, metabotropic 4
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
IAPP islet amyloid polypeptide
IL6 interleukin 6
INHA inhibin, alpha
JRK Jrk homolog (mouse)
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
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
MAGT1 magnesium transporter 1
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MMP9 matrix metallopeptidase 9
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NLE1 notchless homolog 1 (Drosophila)
NOTCH1 notch 1
NPY neuropeptide Y
NPY1R neuropeptide Y receptor Y1
NPY2R neuropeptide Y receptor Y2
NPY5R neuropeptide Y receptor Y5
OPRM1 opioid receptor, mu 1
PCNXL2 pecanex-like 2 (Drosophila)
PDIA3 protein disulfide isomerase family A, member 3
PI3 peptidase inhibitor 3, skin-derived
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PLCB4 phospholipase C, beta 4
PVALB parvalbumin
RCN2 reticulocalbin 2, EF-hand calcium binding domain
RORB RAR-related orphan receptor B
RPS19 ribosomal protein S19
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SMC1A structural maintenance of chromosomes 1A
SREBF1 sterol regulatory element binding transcription factor 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
THBS1 thrombospondin 1
TRAK1 trafficking protein, kinesin binding 1
UBE3A ubiquitin protein ligase E3A
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta