Potassium aggravated myotonia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms). (Orphanet Rare Disease Ontology, Orphanet_612)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C538353
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Genes

1 genes/proteins associated with the disease Potassium aggravated myotonia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SCN4A sodium channel, voltage gated, type IV alpha subunit 2.88009