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GENE - TERM ANNOTATION REPORT

RGD ID: 1314304
Species: Homo sapiens
RGD Object: Gene
Symbol: ATAD3A
Name: ATPase family AAA domain containing 3A
Acc ID: DOID:0081157
Term: dilated cardiomyopathy 1LL
Definition: A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)
Definition Source(s): PMID:23768516 "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)
ATAD3A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Left ventricular noncompaction 8PMID:28492532
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