rs76394784, PAH

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653 2015
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081 2014
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074 2014
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. 23764561 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. 23514811 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. 22841515 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR [Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic]. 23074961 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 21871829 2011
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 19609714 2009
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294 2008
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Response of phenylketonuria to tetrahydrobiopterin. 17513426 2007
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Response of patients with phenylketonuria in the US to tetrahydrobiopterin. 16143554 2005
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 15464430 2005
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. 15557004 2004
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553 2003
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224 2002
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular basis of phenylketonuria in Cuba. 11524738 2001