rs76394784, PAH

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. 9634518 1998
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. 9634518 1998
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. 1363837 1992
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT A new PKU mutation associated with haplotype 12. 1363838 1992
Classical phenylketonuria
CUI: C0751434
Disease: 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
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? 23430918 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. 15557004 2004
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. 26666653 2015
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Identification of a missense phenylketonuria mutation at codon 408 in Chinese. 1355066 1992
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Identification of a new missense mutation in Japanese phenylketonuric patients. 8068076 1993
Classical phenylketonuria
CUI: C0751434
Disease: 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
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. 9452061 1998
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented. 11051201 2000
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation BEFREE In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented. 11051201 2000
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
0.020 GeneticVariation BEFREE In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented. 11051201 2000
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. 18538294 2008
Classical phenylketonuria
CUI: C0751434
Disease: 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
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 19609714 2009
Classical phenylketonuria
CUI: C0751434
Disease: 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
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. 11326337 2001
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular basis of phenylketonuria in Cuba. 11524738 2001
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 CausalMutation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. 23500595 2013