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GENE - TERM ANNOTATION REPORT

RGD ID: 61882
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nr4a3
Name: nuclear receptor subfamily 4, group A, member 3
Acc ID: DOID:0110669
Term: congenital myasthenic syndrome 14
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23404334 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24461433 "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)
Nr4a3 ISONR4A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregatesPMID:20813212 PMID:28492532
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