PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Classical phenylketonuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease GENOMICS_ENGLAND The frequencies of this new mutation in normal and abnormal (phenylketonuria: PKU) genes are 0.005 and 0.09, respectively, based on the analyses of 100 apparently normal individuals and 39 PKU patients, as demonstrated by DNA amplification with polymerase chain reaction (PCR) and oligonucleotide hybridization methods. 1997387 1991
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease GENOMICS_ENGLAND Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features. 29579554 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. 10200057 1998
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations. 9600453 1998
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. 1363837 1992
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. 2014802 1991
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease 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
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 12501224 2002
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT A new PKU mutation associated with haplotype 12. 1363838 1992
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. 2840952 1988
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT The present study supports the view that circulating lymphocytes give easy access to PAH gene transcripts whose nucleotide sequence is identical to that reported in liver and therefore represent a useful tool for molecular genetic studies in phenylketonuria. 8098245 1993
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Our data suggest that impairment of phenylalanine-mediated activation of PAH may be an important disease-causing mechanism of some N-terminal PAH mutations, which may explain some well-documented genotype-phenotype discrepancies in PAH deficiency. 11326337 2001
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population. 9452062 1998
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. 9048935 1997
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. 8406445 1993
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. 8889590 1996
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348 2012
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. 22526846 2013
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. 9792407 1998
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Mutations in the corresponding human gene (PAH), which encodes the human hepatic PAH enzyme, result in hyperphenylalaninemia; the resulting phenotypes can range in severity from mild forms of hyperphenylalaninemia with benign outcome to the severe form, phenylketonuria with impaired cognitive development. 9792411 1998
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. 1709636 1991
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. 7833954 1994
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease UNIPROT Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 9521426 1998