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GENE - TERM ANNOTATION REPORT

RGD ID: 620685
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aatf
Name: apoptosis antagonizing transcription factor
Acc ID: DOID:0060404
Term: chromosome 17q12 deletion syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome "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)
Aatf ISOAATF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chromosome 17q12 deletion syndromePMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545
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