Overriding Aorta Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0265886
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Genes

17 genes associated with the disease Overriding Aorta in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CLIP2 CAP-GLY domain containing linker protein 2
COX7B cytochrome c oxidase subunit VIIb
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
MEF2C myocyte enhancer factor 2C
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NEK9 NIMA-related kinase 9
PDE2A phosphodiesterase 2A, cGMP-stimulated
RFC2 replication factor C (activator 1) 2, 40kDa
TBL2 transducin (beta)-like 2
TGDS TDP-glucose 4,6-dehydratase
TGFB1 transforming growth factor, beta 1