familial hypertrophic cardiomyopathy

Summary
Definition
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
Super Class
hypertrophic cardiomyopathy
Disease Ontology
DOID:0080326
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
4607 MYBPC3 myosin binding protein C3
4619 MYH1 myosin heavy chain 1
4625 MYH7 myosin heavy chain 7
10398 MYL9 myosin light chain 9
10699 CORIN corin, serine peptidase
22989 MYH15 myosin heavy chain 15
57538 ALPK3 alpha kinase 3
80206 FHOD3 formin homology 2 domain containing 3
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
668940 Myh7b myosin, heavy chain 7B, cardiac muscle, beta
Displaying all 5 entries
Gene ID Gene Symbol Description Source
24837 Tnnt2 troponin T2, cardiac type
24851 Tpm1 tropomyosin 1
289596 Corin corin, serine peptidase
295929 Mybpc3 myosin binding protein C3
363925 Myl2 myosin light chain 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024