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GENE - TERM ANNOTATION REPORT

RGD ID: 2623
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fmr1
Name: fragile X messenger ribonucleoprotein 1
Acc ID: DOID:12849
Term: autistic disorder
Definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Autism "DO" "DO", http://www.neurodevnet.ca "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)
Fmr1 ISOFMR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9806479 PMID:14755444 PMID:15000256 PMID:18621663 PMID:20425835
Fmr1 ISOFMR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behaviorPMID:21681106 PMID:25741868 PMID:30208311
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