absence seizures Gene Set
Genes
16 genes associated with the absence seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CSTB
|
cystatin B (stefin B)
|
|
DHFR
|
dihydrofolate reductase
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
PCDH19
|
protocadherin 19
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
