overriding aorta Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. (Human Phenotype Ontology, HP_0002623)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002623
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10 genes associated with the overriding aorta phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CLIP2 CAP-GLY domain containing linker protein 2
ELN elastin
FGFR2 fibroblast growth factor receptor 2
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
LIMK1 LIM domain kinase 1
RFC2 replication factor C (activator 1) 2, 40kDa
TBL2 transducin (beta)-like 2