Dataset | ClinVar Gene-Phenotype Associations |
Category | disease or phenotype associations |
Type | phenotype |
External Link | http://www.ncbi.nlm.nih.gov/medgen/?term=CN068421 |
Similar Terms | |
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1 genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symbol | Name |
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PTS | 6-pyruvoyltetrahydropterin synthase |