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GENE - TERM ANNOTATION REPORT

RGD ID: 69277
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Chrna1
Name: cholinergic receptor nicotinic alpha 1 subunit
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)
Chrna1 ISOCHRNA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenitalPMID:24033266 PMID:25450229 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33216040 PMID:9221765
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