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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness. 26210745 2015
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. 25757997 2015
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. 23842451 2013
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. 22841515 2012
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. 21147011 2011
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 19609714 2009
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. 19292873 2009
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 17096675 2007
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. 16198137 2005
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005. Abstracts. 16167124 2005
dbSNP: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. 14654665 2003
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
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: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. 10541324 1999
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		T 0.800 GeneticVariation CLINVAR Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study. 10693064 1999
dbSNP: rs62516098
rs62516098
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: rs62516098
rs62516098
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