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GENE - TERM ANNOTATION REPORT

RGD ID: 2935
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Itsn1
Name: intersectin 1
Acc ID: DOID:0070037
Term: autosomal dominant intellectual developmental disorder 7
Definition: An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK333438/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23160955 "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)
Itsn1 ISOITSN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DYRK1A-related intellectual disability syndromePMID:17237124 PMID:23512985 PMID:28492532
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