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GENE - TERM ANNOTATION REPORT

RGD ID: 735466
Species: Mus musculus
RGD Object: Gene
Symbol: Jag1
Name: jagged 1
Acc ID: DOID:9007908
Term: Aortic Coarctation
Definition: A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.
Definition Source(s): MESH:D001017
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)
Jag1 ISOJAG1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Midaortic syndromePMID:10220506 PMID:11139247 PMID:11180599 PMID:16199547 PMID:24748328 PMID:25741868 PMID:28492532 PMID:29483232 PMID:30074189 PMID:31343788 PMID:34185059
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