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GENE - TERM ANNOTATION REPORT

RGD ID: 732576
Species: Homo sapiens
RGD Object: Gene
Symbol: CACNB2
Name: calcium voltage-gated channel auxiliary subunit beta 2
Acc ID: HP:0001639
Term: Hypertrophic cardiomyopathy
Definition: Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Definition Source(s): PMID:17916581
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)
CACNB2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:23861362 PMID:25741868 PMID:28492532
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