Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain. 28174686

2017
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria. 25920592

2015
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation 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: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595

2013
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. 23514811

2013
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985

2012
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348

2012
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation. 20937381

2011
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation BEFREE The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones. 21871828

2011
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294

2008
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337

2001
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337

2001
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941

2000
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 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: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407

1998
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 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: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061

1998
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062

1998
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Two novel PAH gene mutations detected in Italian phenylketonuric patients. 9048935

1997
dbSNP: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 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: rs74603784
rs74603784
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		T 0.820 CausalMutation CLINVAR PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. 8829656

1996