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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:3635
Term: congenital myasthenic syndrome
Definition: A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 "DO" "DO"
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:12766226
Scn4a ISOSCN4A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndromePMID:12766226 PMID:25741868 PMID:26659129 PMID:28492532
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