PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Phenylketonurias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0031485
Disease:
Phenylketonurias 		0.020 GeneticVariation BEFREE The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. 7860062 1995
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0031485
Disease:
Phenylketonurias 		0.020 GeneticVariation BEFREE A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. 8095248 1993