Restrictive Cardiomyopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0007196
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Genes

41 genes associated with the disease Restrictive Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ANK1 ankyrin 1, erythrocytic
BAG3 BCL2-associated athanogene 3
CCN2 cellular communication network factor 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRYAB crystallin, alpha B
DES desmin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPB42 erythrocyte membrane protein band 4.2
FLNC filamin C, gamma
GRAP2 GRB2-related adaptor protein 2
JAG1 jagged 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
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
MYPN myopalladin
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRKCD protein kinase C, delta
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
TMEM87B transmembrane protein 87B
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TTN titin
TTR transthyretin
XYLT1 xylosyltransferase I
XYLT2 xylosyltransferase II