Details of Disease

General Information of Disease (ID: DISEGA0S)

Disease Name Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
Disease Hierarchy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISEGA0S: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
Disease Identifiers
MONDO ID
MONDO_0859372
UMLS CUI
C5774308
OMIM ID
620236
MedGen ID
1824081

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KLHL24 OTWZSX5C Strong Autosomal recessive [1]
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References

1 Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032.