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: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU. 27620137 2016
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 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: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Prenatal diagnosis of Chinese families with phenylketonuria. 26600521 2015
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 24368688 2014
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 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: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. 23357515 2013
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. 23932990 2013
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308 2013
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. 22698810 2012
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. 22698810 2012
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. 21307867 2011
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. 21307867 2011
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. 21147011 2011
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 18299955 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 18299955 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. 17924342 2007
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. 16198137 2005
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. 14722928 2004
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 GeneticVariation CLINVAR Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. 14722928 2004