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 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 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 Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810 1991
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290 1991
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294 1991
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 Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590 1996
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590 1996
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Two novel PAH gene mutations detected in Italian phenylketonuric patients. 9048935 1997
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. 9101291 1997
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 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 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 Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407 1998
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 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 Phenylketonuria mutations in Germany. 10394930 1999
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia. 10495930 1999
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation UNIPROT Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. 10679941 2000
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
0.810 GeneticVariation CLINVAR Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study. 10693064 1999
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