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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 27121329 2016
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect. 24941924 2015
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653 2015
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. 24705691 2014
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. 21953985 2012
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 GeneticVariation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. 17096675 2007
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Phenylketonuria mutations in Northern China. 16256386 2005
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224 2002
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941 2000
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. 10479481 1999
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		G 0.820 CausalMutation CLINVAR Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. 9781015 1998
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
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: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061 1998
dbSNP: rs62508646
rs62508646
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		0.820 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407 1998