hypertrophic cardiomyopathy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (Human Disease Ontology, DOID_11984)
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19 genes involed in the disease hypertrophic cardiomyopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
CALR3 calreticulin 3
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
JPH2 junctophilin 2
MYBPC3 myosin binding protein C, cardiac
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYOZ2 myozenin 2
NEXN nexilin (F actin binding protein)
PLN phospholamban
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
TCAP titin-cap
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TTN titin
VCL vinculin