Harmonizome 3.0

phenylalanine hydroxylase

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

From GeneRIF Biological Term Annotations

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

From Pathway Commons Protein-Protein Interactions

interacting proteins for PAH from the Pathway Commons Protein-Protein Interactions dataset.

From GAD Gene-Disease Associations

genes associated with the disease lung function; pah metabolites, urinary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine hydroxylase (pah) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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