DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Classical phenylketonuria ×

Variant: rs5030847 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

CLINVAR

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

28982351

2017

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

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

26666653

2015

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

25596310

2015

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

24385074

2014

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

24667081

2014

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

24350308

2013

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

A preliminary mutation analysis of phenylketonuria in southwest Iran.

24301756

2013

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

CLINVAR

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

22526846

2013

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

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

23500595

2013

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Mutation analysis in hyperphenylalaninemia patients from South Italy.

23792259

2013

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: Phenylketonuria.

21915151

2012

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].

23074961

2012

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

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

22513348

2012

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Mutation spectrum of phenylketonuria in Iranian population.

20920871

2011

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

21147011

2011

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Variations in genotype-phenotype correlations in phenylketonuria patients.

20082265

2010

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

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

18299955

2008

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

17935162

2008

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

18294361

2008

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

17096675

2007

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

CLINVAR

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

17924342

2007

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

12655553

2003

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

DHPLC mutation analysis of phenylketonuria.

12649065

2003

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

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

12655546

2003

dbSNP:

rs5030847

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

11461196

2001