Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653

2015
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595

2013
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. 23514811

2013
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. 23764561

2013
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308

2013
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595

2013
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR [Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic]. 23074961

2012
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918

2012
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. 22841515

2012
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985

2012
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 21871829

2011
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 19609714

2009
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162

2008
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Response of phenylketonuria to tetrahydrobiopterin. 17513426

2007
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 15464430

2005
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Response of patients with phenylketonuria in the US to tetrahydrobiopterin. 16143554

2005
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. 15557004

2004
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553

2003
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. 11678552

2001
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337

2001
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Molecular basis of phenylketonuria in Cuba. 11524738

2001
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 CausalMutation CLINVAR In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented. 11051201

2000
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study. 10693064

1999
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. 10495930

1999
dbSNP: rs76394784
rs76394784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Phenylketonuria mutations in Germany. 10394930

1999