DisGeNET - a database of gene-disease associations

Classical phenylketonuria, C0751434

Gene: PAH ×

Source: CLINVAR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

10479481

1999

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

21871829

2011

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

23842451

2013

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

CpG dinucleotides are mutation hot spots in phenylketonuria.

2574153

1989

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

18299955

2008

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

23430918

2012

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

9634518

1998

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

26666653

2015

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

17935162

2008

dbSNP:

rs5030849

PAH

0.830

GeneticVariation

CLINVAR

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

23514811

2013

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.

16765994

2006

dbSNP:

rs5030849

PAH

0.830

CausalMutation

CLINVAR

Molecular basis of phenotypic heterogeneity in phenylketonuria.

2014036

1991

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

23500595

2013

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

10479481

1999

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

17935162

2008

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

12655546

2003

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

21953985

2012

dbSNP:

rs5030843

PAH

0.820

GeneticVariation

CLINVAR

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

8659548

1996

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

24368688

2014

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

2606484

1989

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

22513348

2012

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

26666653

2015

dbSNP:

rs5030843

PAH

0.820

CausalMutation

CLINVAR

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

19036622

2009