generalized seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Seizures of with initial involvement of both cerebral hemispheres. (Human Phenotype Ontology, HP_0002197)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002197
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Genes

59 genes associated with the generalized seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACSF3 acyl-CoA synthetase family member 3
ADGRV1 adhesion G protein-coupled receptor V1
AFG3L2 AFG3-like AAA ATPase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPA aspartoacylase
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CPA6 carboxypeptidase A6
CSTB cystatin B (stefin B)
DHFR dihydrofolate reductase
ELOVL4 ELOVL fatty acid elongase 4
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
GBA glucosidase, beta, acid
GLB1 galactosidase, beta 1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GOSR2 golgi SNAP receptor complex member 2
GRN granulin
GYS1 glycogen synthase 1 (muscle)
IER3IP1 immediate early response 3 interacting protein 1
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7 potassium channel tetramerization domain containing 7
LAMC3 laminin, gamma 3
LBR lamin B receptor
MFSD8 major facilitator superfamily domain containing 8
NDE1 nudE neurodevelopment protein 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
PCDH19 protocadherin 19
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRRT2 proline-rich transmembrane protein 2
PSAP prosaposin
SCARB2 scavenger receptor class B, member 2
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
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STXBP1 syntaxin binding protein 1
SZT2 seizure threshold 2 homolog (mouse)
TBC1D24 TBC1 domain family, member 24
XK X-linked Kx blood group