| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An abnormality of proteoglycan metabolism. (Human Phenotype Ontology, HP_0004355) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0004355 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the abnormality of proteoglycan metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| GNPTAB | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
