PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Classical phenylketonuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1445893088
rs1445893088
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.010 GeneticVariation BEFREE The p.L348V and p.P416Q enzymes retain significant catalytic activity yet were observed in classic and moderate PKU patients. 18937047 2009