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: rs62642936
rs62642936
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: rs62642936
rs62642936
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: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. 23842451 2013
dbSNP: rs62642936
rs62642936
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: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985 2012
dbSNP: rs62642936
rs62642936
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: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. 22841515 2012
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients. 21871829 2011
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 19609714 2009
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. 19062537 2008
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. 18590700 2008
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62642936
rs62642936
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: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. 17924342 2007
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 15464430 2005
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553 2003
dbSNP: rs62642936
rs62642936
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: rs62642936
rs62642936
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: rs62642936
rs62642936
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: rs62642936
rs62642936
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: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation CLINVAR Phenylketonuria mutations in Germany. 10394930 1999
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061 1998
dbSNP: rs62642936
rs62642936
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
dbSNP: rs62642936
rs62642936
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.800 GeneticVariation 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: rs62642936
rs62642936
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