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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation BEFREE The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. 7860062 1995
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation BEFREE A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. 8095248 1993
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect. 24941924 2015
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. 2063869 1991
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. 9781015 1998
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 27121329 2016
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 17096675 2007
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. 8659548 1996
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Phenylketonuria mutations in Northern China. 16256386 2005
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. 1301193 1992
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. 1301193 1992
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. 7860062 1995
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. 8095248 1993
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. 8830172 1996
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985 2012
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. 8268925 1993
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. 24705691 2014
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 9399896 1997