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 Biomarker CTD_human

Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression BEFREE There were no significant differences noted between bipolar manic-depressive patients and normal controls for plasma phenylalanine or tyrosine following an L-phenylalanine loading test given to determine if some affective illness may be related to the heterozygous phenotypic expression of phenylketonuria (reduced liver phenylalanine hydroxylase). 486619

1979
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. 496890

1979
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR [Functional results of reconstructive laryngectomy]. 1146119

1975
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. 1301187

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. 1301187

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. 1301187

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. 1301193

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. 1301193

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. 1301200

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. 1301200

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. 1301201

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. 1301201

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 AlteredExpression BEFREE Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria. 1301202

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. 1301942

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. 1301942

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. 1301947

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. 1301947

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR [Genetic diagnosis of phenylketonuria: identification of the mutations of phenylalanine hydroxylase gene by PCR direct sequencing]. 1307609

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics. 1312992

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal. 1349566

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal. 1349566

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus. 1349576

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation BEFREE Three novel mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese classical phenylketonuria (PKU) patients. 1349576

1992
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR Identification of a missense phenylketonuria mutation at codon 408 in Chinese. 1355066

1992