| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (Human Disease Ontology, DOID_9281) |
| External Link | http://www.omim.org/entry/261600 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Phenylketonuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| PAH | phenylalanine hydroxylase |
