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 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 		0.820 GeneticVariation UNIPROT Identification of a missense phenylketonuria mutation at codon 408 in Chinese. 1355066 1992
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 A new PKU mutation associated with haplotype 12. 1363838 1992
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810 1991
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 Phenylketonuria missense mutations in the Mediterranean. 1672294 1991
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 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 		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 		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 		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 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 GeneticVariation 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 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 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 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 		0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590 1996
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 		0.820 GeneticVariation UNIPROT Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. 9101291 1997
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
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061 1998
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 		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