Cardiomyopathy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (Human Disease Ontology, DOID_0050700)
External Link http://www.ncbi.nlm.nih.gov/medgen/?term=CN001491
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Genes

17 genes associated with the Cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ALMS1 Alstrom syndrome protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DSC2 desmocollin 2
DSP desmoplakin
EMD emerin
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
MYLK2 myosin light chain kinase 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TTR transthyretin