Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. 26503515

2015
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653

2015
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 24368688

2014
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308

2013
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. 23932990

2013
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. 22330942

2012
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 21871829

2011
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations. 19915519

2010
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria. 18985011

2008
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 18299955

2008
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162

2008
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361

2008
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. 19062537

2008
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 17096675

2007
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. 17924342

2007
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene. 16253218

2006
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 15171997

2004
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. 14681498

2004
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553

2003
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. 12655554

2003
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. 10479481

1999
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. 10598814

1999
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. 9634518

1998
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Molecular basis of mild hyperphenylalaninaemia in Poland. 9429153

1997
dbSNP: rs62508730
rs62508730
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.800 CausalMutation CLINVAR Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. 8659548

1996