Transient Hyperphenylalaninemia Gene Set

Dataset	DisGeNET Gene-Disease Associations
Category	disease or phenotype associations
Type	disease
Description	A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). (Human Phenotype Ontology, HP_0008297)
External Link	https://www.disgenet.org/browser/0/1/0/C0268464
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Genes

6 genes associated with the disease Transient Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol	Name
GCH1	GTP cyclohydrolase 1
HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
PAH	phenylalanine hydroxylase
PCBD1	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PTS	6-pyruvoyltetrahydropterin synthase
SPR	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)