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GENE - TERM ANNOTATION REPORT

RGD ID: 629475
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rere
Name: arginine-glutamic acid dipeptide repeats
Acc ID: DOID:9004468
Term: Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Definition: An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)
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)
Rere ISORERE (Homo sapiens)329849005RGDDNA:missense mutations, duplications, deletion:CDS:multiple (human) 
Rere ISORERE (Homo sapiens)7240710OMIM  
Rere ISORERE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | ClinVar Annotator: match by term: RERE-related conditionPMID:17576681 PMID:25741868 PMID:26350515 PMID:27087320 PMID:28492532 PMID:29330883 PMID:9536098
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