Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 GeneticVariation CLINVAR Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 27121329

2016
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. 27121329

2016
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974

2016
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Prenatal diagnosis of Chinese families with phenylketonuria. 26600521

2015
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype. 25882749

2015
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 GeneticVariation CLINVAR Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. 23514811

2013
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348

2012
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. 21527427

2011
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294

2008
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation BEFREE To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294

2008
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H). 18538294

2008
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 15464430

2005
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 GeneticVariation CLINVAR Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. 15464430

2005
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 15171997

2004
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		A 0.810 GeneticVariation CLINVAR Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337

2001
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941

2000
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 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: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407

1998
dbSNP: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 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: rs62508715
rs62508715
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061

1998