atonic seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground . (Human Phenotype Ontology, HP_0010819)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010819
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Genes

10 genes associated with the atonic 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
CHD2 chromodomain helicase DNA binding protein 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GOSR2 golgi SNAP receptor complex member 2
PCDH19 protocadherin 19
PRICKLE1 prickle homolog 1 (Drosophila)
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