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: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 GeneticVariation CLINVAR
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of a missense phenylketonuria mutation at codon 408 in Chinese. 1355066 1992
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Molecular basis for nonphenylketonuria hyperphenylalaninemia. 1358789 1992
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. 1363837 1992
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT A new PKU mutation associated with haplotype 12. 1363838 1992
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 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: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290 1991
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294 1991
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of a new missense mutation in Japanese phenylketonuric patients. 8068076 1993
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. 8088845 1994
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. 8098245 1993
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590 1996
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Two novel PAH gene mutations detected in Italian phenylketonuric patients. 9048935 1997
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 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: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. 9298832 1997
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 9521426 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 9521426 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 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: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 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: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia. 9852673 1998
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 9950317 1999
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. 10598814 1999