dialeptic seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Seizures characterized by impaired consciousness. (Human Phenotype Ontology, HP_0011146)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011146
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Genes

21 genes associated with the dialeptic 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
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CSTB cystatin B (stefin B)
DHFR dihydrofolate reductase
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FIG4 FIG4 phosphoinositide 5-phosphatase
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
LGI1 leucine-rich, glioma inactivated 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
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SZT2 seizure threshold 2 homolog (mouse)
TSC1 tuberous sclerosis 1