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: rs199475614
rs199475614
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.700 GeneticVariation CLINVAR Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. 26503515 2015
dbSNP: rs199475614
rs199475614
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.700 GeneticVariation CLINVAR Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. 26322415 2015
dbSNP: rs199475614
rs199475614
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.700 GeneticVariation CLINVAR Mutational spectrum of phenylketonuria in Jiangsu province. 25894915 2015
dbSNP: rs199475614
rs199475614
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.700 GeneticVariation CLINVAR Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study. 24190797 2014
dbSNP: rs199475614
rs199475614
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.700 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. 23764561 2013