| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. (Human Phenotype Ontology, HP_0010883) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0010883 |
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1 genes associated with the aortic valve atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| NKX2-5 | NK2 homeobox 5 |