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GENE - TERM ANNOTATION REPORT

RGD ID: 11780025
Species: Pan paniscus
RGD Object: Gene
Symbol: KLHL24
Name: kelch like family member 24
Acc ID: DOID:9009148
Term: Hypertrophic Cardiomyopathy 29
Definition: A disease characterized by recurrent syncope, dyspnea on exertion, and palpitations. Caused by homozygous mutation in the KLHL24 gene on chromosome 3q27.
Definition Source(s): OMIM:620236
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)
KLHL24 ISOKLHL24 (Homo sapiens)7240710OMIM  
KLHL24 ISOKLHL24 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodiesPMID:30715372
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