restrictive cardiomyopathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. (Human Phenotype Ontology, HP_0001723)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001723
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Genes

6 genes associated with the restrictive cardiomyopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTC1 actin, alpha, cardiac muscle 1
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
TNNI3 troponin I type 3 (cardiac)