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: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Computational study of missense mutations in phenylalanine hydroxylase. 25750018 2015
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081 2014
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074 2014
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR The complexity of newborn screening follow-up in phenylketonuria. 25155776 2014
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 24368688 2014
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. 23357515 2013
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151 2012
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918 2012
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients. 22112818 2012
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? 24765287 2011
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 21871829 2011
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294 2008
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. 18394115 2008
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR PKU in Minas Gerais State, Brazil: mutation analysis. 18798839 2008
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 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: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited. 12173030 2002
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224 2002
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Molecular analysis of phenylketonuria (PKU) in newborns from Texas. 11385716 2001
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337 2001
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941 2000
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		A 0.800 CausalMutation CLINVAR Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. 10429004 1999
dbSNP: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 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: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 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: rs74503222
rs74503222
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407 1998