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GENE - TERM ANNOTATION REPORT

RGD ID: 61989
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ankrd1
Name: ankyrin repeat domain 1
Acc ID: DOID:0110307
Term: hypertrophic cardiomyopathy 1
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)
Definition Source(s): PMID:1975517 "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)
Ankrd1 ISOANKRD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosisPMID:16199547 PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
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