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GENE - TERM ANNOTATION REPORT

RGD ID: 736232
Species: Homo sapiens
RGD Object: Gene
Symbol: SHANK2
Name: SH3 and multiple ankyrin repeat domains 2
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)
SHANK2 ISOShank2 (Rattus norvegicus)126790534RGD  
SHANK2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorderPMID:25741868 PMID:27569545
SHANK2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders 
SHANK2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disordersPMID:25741868
SHANK2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorderPMID:22346768 PMID:25741868
SHANK2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorderPMID:30763456
SHANK2 ISSShank2 (Mus musculus)13592920MouseDO  
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