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GENE - TERM ANNOTATION REPORT

RGD ID: 14197382
Species: Sus scrofa
RGD Object: Gene
Symbol: NKX2-5
Name: NK2 homeobox 5
Acc ID: DOID:9008306
Term: Common Ventricle
Definition: Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two.
Definition Source(s): MESH:D000080039
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 ISONKX2-5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Single ventriclePMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920
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