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GENE - TERM ANNOTATION REPORT

RGD ID: 18743054
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: ACTN2
Name: actinin alpha 2
Acc ID: DOID:6419
Term: tetralogy of Fallot
Definition: A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.
Definition Source(s): MESH:D013771
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)
ACTN2 ISOACTN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tetralogy of FallotPMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532
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