abnormality of phenylalanine metabolism Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	An abnormality of L-phenylalanine metabolic process. (Human Phenotype Ontology, HP_0010893)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0010893
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Genes

7 genes associated with the abnormality of phenylalanine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
FTCD	formimidoyltransferase cyclodeaminase
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
SPR	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)