hypertrophic cardiomyopathy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. (Experimental Factor Ontology, EFO_0000538)
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Genes

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