transient hyperphenylalaninemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0008297
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Genes

3 genes associated with the transient hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
GCH1 GTP cyclohydrolase 1
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)