Gene: PAH ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. 29997390 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108 2018
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. 30050108 2018
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR White matter microstructural damage in early treated phenylketonuric patients. 30367646 2018
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. 30311390 2018
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD. 29144512 2018
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China. 29176022 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. 28982351 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase. 28653649 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. 28754886 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014. 27469133 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. 28982351 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening. 28771436 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. 28754886 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain. 28174686 2017
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Psychiatric disorders in adolescent and young adult patients with phenylketonuria. 26655635 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark. 26542770 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 GeneticVariation disease CLINVAR Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. 26803807 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.800 CausalMutation disease CLINVAR Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. 26803807 2016