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GENE - TERM ANNOTATION REPORT

RGD ID: 11217
Species: Mus musculus
RGD Object: Gene
Symbol: Rarb
Name: retinoic acid receptor, beta
Acc ID: DOID:0080235
Term: autosomal dominant intellectual developmental disorder 48
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28886345/ "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)
Rarb ISORARB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 PMID:27120018 PMID:28492532
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