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GENE - TERM ANNOTATION REPORT

RGD ID: 1319627
Species: Mus musculus
RGD Object: Gene
Symbol: Ate1
Name: arginyltransferase 1
Acc ID: DOID:2340
Term: craniosynostosis
Definition: A synostosis that results_in premature fusion located_in skull. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Craniosynostosis "DO" "DO", http://www.mayoclinic.com/health/craniosynostosis/DS00959 "DO" "DO", http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm "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)
Ate1 ISOATE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FGFR2-related craniosynostosisPMID:17873121 PMID:28492532 PMID:31754721
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