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 entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
17879 Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult
17882 Myh2 myosin, heavy polypeptide 2, skeletal muscle, adult
17883 Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic
17884 Myh4 myosin, heavy polypeptide 4, skeletal muscle
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
53419 Corin corin, serine peptidase
116904 Alpk3 alpha-kinase 3
140781 Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta
225288 Fhod3 formin homology 2 domain containing 3
544791 Myh13 myosin, heavy polypeptide 13, skeletal muscle
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

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Last updated: December 9, 2024