DisGeNET - a database of gene-disease associations

6-pyruvoyl-tetrahydropterin synthase deficiency, C0878676

Variant: rs104894275 ×

Source: ALL

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:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

27246466

2017

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

22237589

2012

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

20059486

2010

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].

17160954

2006

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

11694255

2001

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

11388593

2001

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

11438997

2001

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

10874306

2000

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

10220141

1999

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.

10531334

1999

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.

10585341

1999

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

9450907

1998

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

9450907

1998

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

9222757

1997

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.

9159737

1997

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

8707300

1996

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

8707300

1996

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.

7493990

1995

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

8178819

1994

dbSNP:

rs104894275

PTS

0.800

GeneticVariation

UNIPROT

A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

7698774

1994