percussion myotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). (Human Phenotype Ontology, HP_0010548)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010548
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Genes

4 genes associated with the percussion myotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CAV3 caveolin 3
CLCN1 chloride channel, voltage-sensitive 1
PTRF polymerase I and transcript release factor
SCN4A sodium channel, voltage gated, type IV alpha subunit