rs5030846, 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
0.700 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
0.700 CausalMutation CLINVAR Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. 24130151 2014
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 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
0.700 CausalMutation CLINVAR Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran. 23716935 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. 22763404 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Mutation spectrum of phenylketonuria in Iranian population. 20920871 2011
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation 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
0.700 CausalMutation CLINVAR Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. 14741196 2004
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. 14654665 2003
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. 11486900 2001
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Comparison of genotype and intellectual phenotype in untreated PKU patients. 8320703 1993
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Molecular basis of phenotypic heterogeneity in phenylketonuria. 2014036 1991
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.700 CausalMutation CLINVAR Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. 2309142 1990
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
0.010 GeneticVariation BEFREE Each of four other mutations (R158Q, R243X, G272X, IVS12nt1) accounted for more than 3% of PKU alleles. 7557973 1995