| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets. (Human Phenotype Ontology, HP_0200129) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0200129 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the calcific mitral stenosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| GBA | glucosidase, beta, acid |
