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: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. 25596310 2015
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653 2015
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081 2014
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074 2014
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 24368688 2014
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985 2012
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151 2012
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine. 19036622 2009
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation BEFREE The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical phenylketonuria (PKU) phenotype expressing 0.2-1.8% of the wild type PAH activity when using phenylalanine as substrate were found to have <0.1% of the wild type PAH activity when SCMC was used as the substrate. 19036622 2009
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation BEFREE Thus, the phenylketonuria-associated PAH mutant R158Q had a coupling efficiency of about 80%, compared to the wild-type enzyme under similar conditions. 15963939 2005
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. 12655546 2003
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. 14654665 2003
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. 10479481 1999
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 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: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. 8659548 1996
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Molecular basis of phenotypic heterogeneity in phenylketonuria. 2014036 1991
dbSNP: rs5030843
rs5030843
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Phenylketonuria: detection of a frequent haplotype 4 allele mutation. 2606484 1989