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GENE - TERM ANNOTATION REPORT

RGD ID: 12220334
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: CBL
Name: Cbl proto-oncogene
Acc ID: DOID:0110676
Term: congenital myasthenic syndrome 13
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16870884 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22742743 "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)
CBL ISOCBL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregatesPMID:22742743 PMID:28492532
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