Name

pku Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pku in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pku Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term pku in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

phenylketonuria/pku Gene Set

From GAD Gene-Disease Associations

genes associated with the disease phenylketonuria/pku in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

[hyperphenylalaninemia, non-pku mild] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [hyperphenylalaninemia, non-pku mild] phenotype from the curated OMIM Gene-Disease Associations dataset.

Mild non-PKU hyperphenylalanemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mild non-PKU hyperphenylalanemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.