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GENE - TERM ANNOTATION REPORT

RGD ID: 1594202
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sgcb
Name: sarcoglycan, beta
Acc ID: DOID:11984
Term: hypertrophic cardiomyopathy
Definition: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
Definition Source(s): MESH:D002312, http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, http://www.nhlbi.nih.gov/health/health-topics/topics/cm/
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13120508554872ClinVarClinVar Annotator: match by term: Hypertrophic cardiomyopathy

PMID:25741868, PMID:26467025, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.