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GENE - TERM ANNOTATION REPORT

RGD ID: 1589127
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Upf1
Name: UPF1, RNA helicase and ATPase
Acc ID: DOID:0060772
Term: multiple types of congenital heart defects 6
Definition: A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17924340 "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)
Upf1 ISOUPF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital heart defects, multiple types, 6PMID:14648004 PMID:1792434 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877
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