generalized tonic-clonic seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena. (Human Phenotype Ontology, HP_0002069)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002069
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Genes

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

Symbol Name
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
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
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CPA6 carboxypeptidase A6
CSTB cystatin B (stefin B)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GYS1 glycogen synthase 1 (muscle)
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
LAMC3 laminin, gamma 3
LBR lamin B receptor
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
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
TBC1D24 TBC1 domain family, member 24