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 GeneticVariation disease BEFREE A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients. 31102715 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease BEFREE Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. 31636599 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE It has been nearly 70 years since the discovery that strict adherence to a diet low in phenylalanine prevents severe neurological sequelae in patients with phenylalanine hydroxylase deficiency (phenylketonuria; PKU). 30284526 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation disease CLINVAR A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease CLINVAR Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. 29997390 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study. 31295388 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. 30674554 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 30747360 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease CLINVAR Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 30747360 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies. 31482689 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression disease BEFREE Phenylalanine hydroxylase (PAH) regulates phenylalanine (Phe) levels in mammals to prevent neurotoxicity resulting from high Phe concentrations as observed in genetic disorders leading to hyperphenylalaninemia and phenylketonuria. 30287685 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression disease BEFREE Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. 30037505 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE The high sensitivity (the detection limit of 0.04 pg/μL with plasmid) and specificity of this testing system were found through genotyping seven pathogenic SNPs in phenylalanine hydroxylase gene ( PAH, the etiological factor of phenylketonuria). 29451781 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. 29316886 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker disease BEFREE PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. 29654578 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation disease CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. 29749107 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation disease CLINVAR Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. 29390883 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation disease CLINVAR White matter microstructural damage in early treated phenylketonuric patients. 30367646 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Mutations in the phenylalanine hydroxylase gene (the causative gene in phenylketonuria) lead to reduced pigmentation in untreated phenylketonuria patients, and reduced pigmentation is associated with greater melanoma risk. 29473999 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease BEFREE Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. 29390883 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation disease CLINVAR Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. 29499199 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression disease BEFREE In phenylketonuria, PAH deficiency leads to elevated blood phenylalanine and is often caused by PAH protein misfolding with loss of function. 29514280 2018