DisGeNET - a database of gene-disease associations

6-pyruvoyl-tetrahydropterin synthase deficiency, C0878676

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:

rs104894276

PTS

0.800

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs104894280

PTS

0.800

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs104894280

PTS

0.800

CausalMutation

CLINVAR

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.

25304915

2015

dbSNP:

rs370340361

PTS

0.800

CausalMutation

CLINVAR

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

25758715

2015

dbSNP:

rs370340361

PTS

0.800

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs104894277

PTS

0.800

GeneticVariation

CLINVAR

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

23942198

2014

dbSNP:

rs104894280

PTS

0.800

CausalMutation

CLINVAR

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

25456745

2014

dbSNP:

rs370340361

PTS

0.800

CausalMutation

CLINVAR

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

23942198

2014

dbSNP:

rs370340361

PTS

0.800

CausalMutation

CLINVAR

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

25456745

2014

dbSNP:

rs104894277

PTS

0.800

CausalMutation

CLINVAR

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

23138986

2013

dbSNP:

rs104894280

PTS

0.800

CausalMutation

CLINVAR

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

23138986

2013

dbSNP:

rs1167104933

PTS

0.800

GeneticVariation

CLINVAR

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

23138986

2013

dbSNP:

rs200712908

PTS

0.800

GeneticVariation

CLINVAR

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

23138986

2013

dbSNP:

rs765406631

PTS

0.800

GeneticVariation

CLINVAR

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

23138986

2013

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

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

22237589

2012

dbSNP:

rs104894276

PTS

0.800

CausalMutation

CLINVAR

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

22237589

2012

dbSNP:

rs104894277

PTS

0.800

GeneticVariation

CLINVAR

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

22237589

2012

dbSNP:

rs104894280

PTS

0.800

CausalMutation

CLINVAR

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

22237589

2012

dbSNP:

rs104894276

PTS

0.800

CausalMutation

CLINVAR

Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

21933604

2011

dbSNP:

rs104894275

PTS

0.800

CausalMutation

CLINVAR

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

20059486

2010

dbSNP:

rs200712908

PTS

0.800

GeneticVariation

CLINVAR

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

20059486

2010

dbSNP:

rs370340361

PTS

0.800

CausalMutation

CLINVAR

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

20059486

2010

dbSNP:

rs765406631

PTS

0.800

GeneticVariation

CLINVAR

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

20059486

2010

dbSNP:

rs104894276

PTS

0.800

CausalMutation

CLINVAR

[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].

19350512

2009