PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Hyperphenylalaninaemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75193786
rs75193786
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		0.010 GeneticVariation BEFREE The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of in vivo HPA among patients. 10720436 2000