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GENE - TERM ANNOTATION REPORT

RGD ID: 2623
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fmr1
Name: fragile X mental retardation 1
Acc ID: DOID:12849
Term: autistic disorder
Definition: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
Definition Source(s): MESH:D001321, http://en.wikipedia.org/wiki/Autism, http://www.neurodevnet.ca
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7359198554872ClinVarClinVar Annotator: match by term: Autistic behavior

PMID:25741868
 ISORGD:7359198554872ClinVarClinVar Annotator: match by term: Autistic disorder of childhood onset

PMID:21681106, PMID:30208311
 ISORGD:73591911554173CTDCTD Direct Evidence: marker/mechanism

PMID:9806479, PMID:14755444, PMID:15000256, PMID:18621663, PMID:20425835
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.