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 		0.810 GeneticVariation BEFREE To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294 2008
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Psychiatric disorders in adolescent and young adult patients with phenylketonuria. 26655635 2016
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. 23932990 2013
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918 2012
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 27121329 2016
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR White matter microstructural damage in early treated phenylketonuric patients. 30367646 2018
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 		C 0.810 CausalMutation CLINVAR To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294 2008
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 		C 0.810 CausalMutation CLINVAR Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. 10598814 1999
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 		C 0.810 CausalMutation CLINVAR Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 18299955 2008
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224 2002
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308 2013
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. 17924342 2007
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553 2003
dbSNP: rs199475598
rs199475598
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. 11678552 2001
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 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 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 		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 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 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 		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 Mutation analysis in hyperphenylalaninemia patients from South Italy. 23792259 2013