Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR White matter microstructural damage in early treated phenylketonuric patients. 30367646

2018
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Psychiatric disorders in adolescent and young adult patients with phenylketonuria. 26655635

2016
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. 23932990

2013
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Mutation analysis in hyperphenylalaninemia patients from South Italy. 23792259

2013
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. 24350308

2013
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918

2012
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation 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: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. 18299955

2008
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. 17924342

2007
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. 12655553

2003
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. 11935335

2002
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224

2002
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Molecular analysis of phenylketonuria (PKU) in newborns from Texas. 11385716

2001
dbSNP: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. 11678552

2001
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		C 0.810 CausalMutation CLINVAR Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. 10598814

1999
dbSNP: rs199475598
rs199475598
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: rs199475598
rs199475598
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 GeneticVariation UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062

1998