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GENE - TERM ANNOTATION REPORT

RGD ID: 3636
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn4a
Name: sodium voltage-gated channel alpha subunit 4
Acc ID: DOID:9008993
Term: Myotonia
Definition: Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.
Definition Source(s): MESH:D009222
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Scn4a ISOSCN4A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:8308722
Scn4a ISOSCN4A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MyotoniaPMID:25741868 PMID:26467025 PMID:27922499 PMID:28492532 PMID:32660787 PMID:32849172 PMID:33573884
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