DisGeNET - a database of gene-disease associations

6-pyruvoyl-tetrahydropterin synthase deficiency, C0878676

Gene: PTS ×

Source: UNIPROT ×

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:

rs104894273

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

GeneticVariation

UNIPROT

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

11388593

2001

dbSNP:

rs104894276

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:

rs104894277

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:

rs104894279

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:

rs104894280

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:

rs150726932

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:

rs200712908

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:

rs370340361

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:

rs765406631

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:

rs104894273

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

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

10874306

2000

dbSNP:

rs104894276

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:

rs104894277

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:

rs104894279

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:

rs104894280

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:

rs150726932

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:

rs200712908

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:

rs370340361

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:

rs765406631

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:

rs104894273

PTS

0.800

GeneticVariation

UNIPROT

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

10585341

1999

dbSNP:

rs104894273

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:

rs104894273

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

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

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

10585341

1999