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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: DOID:1882
Term: atrial heart septal defect
Definition: A heart septal defect located_in in the septum that separates the two atria of the heart. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Atrial_septal_defect "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)
NKX2-5 IAGP 12914794RGDDNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human) 
NKX2-5 IAGP 12914795RGDDNA:frameshift mutation:exon:p.G206Fs*231 (human) 
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defectPMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defectPMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532
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