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GENE - TERM ANNOTATION REPORT

RGD ID: 736469
Species: Homo sapiens
RGD Object: Gene
Symbol: ELN
Name: elastin
Acc ID: HP:0000729
Term: Autistic behavior
Definition: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:28879490
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)
ELN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorder

PMID:21658581 PMID:25741868 PMID:27569545
ELN IAGP 8699517HPO ORPHA:90348
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