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 		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 		0.820 GeneticVariation UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062 1998
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290 1991
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Two novel PAH gene mutations detected in Italian phenylketonuric patients. 9048935 1997
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 		0.820 GeneticVariation UNIPROT 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 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 		0.820 GeneticVariation UNIPROT Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH). 9792411 1998
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 		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 UNIPROT A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. 1363837 1992
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Identification of a new missense mutation in Japanese phenylketonuric patients. 8068076 1993
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 		0.820 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941 2000
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 Phenylketonuria mutations in Northern China. 16256386 2005
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT A new PKU mutation associated with haplotype 12. 1363838 1992