Details of Disease | DrugMAP

General Information of Disease (ID: DISA8NB0)

Disease Name	Cardiomyopathy, familial hypertrophic 27
Synonyms	CMH27; cardiomyopathy, FAMILIAL hypertrophic 27
Disease Hierarchy	DISQ89HN: Familial hypertrophic cardiomyopathy DISA8NB0: Cardiomyopathy, familial hypertrophic 27
Disease Identifiers	MONDO ID MONDO_0054838 UMLS CUI C4748014 OMIM ID 618052 MedGen ID 1648325

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
ALPK3	OTLUYSMO	Strong	Autosomal dominant	[1]
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References

1	Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093.