DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Classical phenylketonuria ×

Variant: rs79931499 ×

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:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

26322415

2015

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

24385074

2014

dbSNP:

rs79931499

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:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: Phenylketonuria.

21915151

2012

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

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

22513348

2012

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

21307867

2011

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

18538294

2008

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

15319459

2004

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

12501224

2002

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

11326337

2001

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

10679941

2000

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

9950317

1999

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

9792411

1998

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

CausalMutation

CLINVAR

Molecular characterization of phenylketonuria in Japanese patients.

9860305

1998

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.

9452062

1998

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

9452061

1998

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

9792407

1998

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Two novel PAH gene mutations detected in Italian phenylketonuric patients.

9048935

1997

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

9101291

1997

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

8889590

1996

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Identification of a new missense mutation in Japanese phenylketonuric patients.

8068076

1993

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

1363837

1992

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

A new PKU mutation associated with haplotype 12.

1363838

1992

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

UNIPROT

Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

1355066

1992

dbSNP:

rs79931499

PAH

CUI:	C0751434
Disease:	Classical phenylketonuria

Classical phenylketonuria

0.810

GeneticVariation

BEFREE

This mutation (R413P) results in negligible enzymatic activity when expressed in heterologous mammalian cells and is compatible with a classic PKU phenotype in the patient.

2006152

1991