Cardiomyopathy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. (Experimental Factor Ontology, EFO_0000318)
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