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GENE - TERM ANNOTATION REPORT

RGD ID: 69264
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Shank3
Name: SH3 and multiple ankyrin repeat domains 3
Acc ID: DOID:0060041
Term: autism spectrum disorder
Definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Autism_spectrum_disorder "DO" "DO", http://www.neurodevnet.ca "DO" "DO", https://www.genome.gov/Genetic-Disorders/Autism "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)
Shank3 ISOSHANK3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17173049 PMID:18252227
Shank3 ISOSHANK3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorderPMID:11391650 PMID:17173049 PMID:21984749 PMID:21984750 PMID:21984751 PMID:25255310 PMID:25741868 PMID:29719671 PMID:30763456 PMID:34737294
Shank3 ISSShank3 (Mus musculus)13592920MouseDO  
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