Phenylalanine hydroxylase deficiency

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Phenylalanine hydroxylase deficiency
MONDO_0009861
PAH Unknown
11385716 22513348 9452061 9600453 8889583 8098245 9634518 10200057 2014802 9792407 9521426 1363838 1355066 9792411 2615649 9450897 10679941 32668217 1301187 1671810 9950317 9852673 1358789 11461196 2564729 12501224 11935335 1363837 9048935 8889590 1672294 7833954 22526846 1975559 8406445 9452062 2840952 1672290 23792259 11180595 8068076 9101291 18538294 1679030 8088845 1709636 11326337 8364546
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Phenylalanine hydroxylase deficiency.
5 View disease cluster →
Phenylketonuria 1 shared genePAH Related via 1 shared gene including PAH. Tetrahydrobiopterin-responsive phenylketonuria 1 shared genePAH Related via 1 shared gene including PAH. Hyperphenylalaninemia 1 shared genePAH Related via 1 shared gene including PAH. Haddad syndrome 1 shared genePAH Related via 1 shared gene including PAH. Congenital central hypoventilation syndrome 1 shared genePAH Related via 1 shared gene including PAH.