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GENE - TERM ANNOTATION REPORT

RGD ID: 11750092
Species: Pan paniscus
RGD Object: Gene
Symbol: DNAAF3
Name: dynein axonemal assembly factor 3
Acc ID: DOID:0110460
Term: dilated cardiomyopathy 2A
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15070570 "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)
DNAAF3 ISODNAAF3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 2APMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532
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