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GENE - TERM ANNOTATION REPORT

RGD ID: 1606841
Species: Homo sapiens
RGD Object: Gene
Symbol: NKX2-5
Name: NK2 homeobox 5
Acc ID: HP:0011611
Term: Interrupted aortic arch
Definition: Non-continuity of the arch of aorta with an atretic point or absent segment.
Definition Source(s): HPO_CONTRIBUTOR:DDD_dbrown
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)
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Interrupted aortic arch

PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532
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