PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 22237589 2012
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. 21933604 2011
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR [Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. 19350512 2009
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 11388593 2001
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255 2001
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. 10319579 1999
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. 10531334 1999
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. 10585341 1999
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907 1998
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. 9222757 1997
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		T 0.800 CausalMutation CLINVAR 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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		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: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. 8178819 1994
dbSNP: rs104894276
rs104894276
Entrez Id: 5805
Gene Symbol: PTS
PTS
CUI: C0878676
Disease:
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.800 GeneticVariation UNIPROT A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. 7698774 1994