Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Mutation analysis in hyperphenylalaninemia patients from South Italy. 23792259

2013
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
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: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294

2008
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. 11935335

2002
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
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: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Molecular analysis of phenylketonuria (PKU) in newborns from Texas. 11385716

2001
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941

2000
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
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: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia. 9852673

1998
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062

1998
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407

1998
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 9521426

1998
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
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: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061

1998
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 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: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Two novel PAH gene mutations detected in Italian phenylketonuric patients. 9048935

1997
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590

1996
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. 8088845

1994
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Identification of a new missense mutation in Japanese phenylketonuric patients. 8068076

1993
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. 8098245

1993
dbSNP: rs199475643
rs199475643
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation UNIPROT Molecular basis for nonphenylketonuria hyperphenylalaninemia. 1358789

1992