Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients. 31102715

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker BEFREE Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. 31636599

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. 29997390

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. 30674554

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 30747360

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 30747360

2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression BEFREE Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. 30037505

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. 29316886

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 Biomarker BEFREE PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. 29654578

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. 29749107

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. 29390883

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR White matter microstructural damage in early treated phenylketonuric patients. 30367646

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation 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
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. 29390883

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. 29499199

2018
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression BEFREE In phenylketonuria, PAH deficiency leads to elevated blood phenylalanine and is often caused by PAH protein misfolding with loss of function. 29514280

2018