right ventricular hypertrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. (Human Phenotype Ontology, HP_0001667)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001667
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6 genes associated with the right ventricular hypertrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
NOTCH1 notch 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
STAMBP STAM binding protein
VPS33B vacuolar protein sorting 33 homolog B (yeast)