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GENE - TERM ANNOTATION REPORT

RGD ID: 2373
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col11a2
Name: collagen type XI alpha 2 chain
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)
Col11a2 ISOCOL11A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Heart, malformation ofPMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:31299979 PMID:31680349 PMID:33111345
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