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GENE - TERM ANNOTATION REPORT

RGD ID: 737147
Species: Homo sapiens
RGD Object: Gene
Symbol: MYH6
Name: myosin heavy chain 6
Acc ID: DOID:397
Term: restrictive cardiomyopathy
Definition: An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8995091 "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)
MYH6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Restrictive cardiomyopathyPMID:25741868
MYH6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Restrictive cardiomyopathyPMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
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