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: rs76687508
rs76687508
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		0.010 GeneticVariation BEFREE On the other hand, patients heterozygous for the R241C allele had a benign phenotype of mild hyperphenylalaninemia. 11142755 2000