Details of Disease | DrugMAP

General Information of Disease (ID: DIS7649X)

Disease Name	Hypertrophic cardiomyopathy 7
Synonyms	cardiomyopathy, familial hypertrophic, 7; cardiomyopathy, hypertrophic, 7; cardiomyopathy, familial hypertrophic 7; CMH7; hypertrophic cardiomyopathy caused by mutation in TNNI3; hypertrophic cardiomyopathy type 7; TNNI3 hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 7; cardiomyopathy, familial hypertrophic, type 7
Definition	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
Disease Hierarchy	DISQG2AI: Hypertrophic cardiomyopathy DISQ89HN: Familial hypertrophic cardiomyopathy DIS7649X: Hypertrophic cardiomyopathy 7
Disease Identifiers	MONDO ID MONDO_0013369 UMLS CUI C1860752 OMIM ID 613690 MedGen ID 348695

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNNI3	TTNLDK6	Strong	Biomarker	[1]
TNNI3	TTNLDK6	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNNI3	OT65E12V	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
2	Thin filament mutations: developing an integrative approach to a complex disorder. Circ Res. 2011 Mar 18;108(6):765-82. doi: 10.1161/CIRCRESAHA.110.224170.