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
Similar Terms
Downloads & Tools

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