abnormality of aromatic amino acid family metabolism Gene Set
Genes
10 genes associated with the abnormality of aromatic amino acid family metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
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)
|
|
TAT
|
tyrosine aminotransferase
|
