episodic flaccid weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. (Human Phenotype Ontology, HP_0003752)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003752
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Genes

2 genes associated with the episodic flaccid weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit