hyperphenylalaninemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased concentration of L-phenylalanine in the blood. (Human Phenotype Ontology, HP_0004923)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004923
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Genes

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

Symbol Name
GCH1 GTP cyclohydrolase 1
PAH phenylalanine hydroxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase