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GENE - TERM ANNOTATION REPORT

RGD ID: 1309060
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Irx1
Name: iroquois homeobox 1
Acc ID: DOID:1682
Term: congenital heart disease
Definition: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Definition Source(s): MESH:D006330
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)
Irx1 ISOIRX1 (Homo sapiens)329950497RGDDNA:missense mutations:CDS:p.Q240E, p.S298N, p.A381E ( , , rs530506520) (human) 
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