6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
"""Peripheral"" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity."
|
3297709 |
1987 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
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 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
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 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
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 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
|
7698774 |
1994 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
|
8178819 |
1994 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
|
8178819 |
1994 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
|
8707300 |
1996 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
|
8707300 |
1996 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency.
|
8801112 |
1995 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.
|
9159737 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
|
9222757 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
|
9222757 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
|
9222757 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
|
9222757 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
|
9450907 |
1998 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
|
9450907 |
1998 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
|
9450907 |
1998 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
|
9450907 |
1998 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
|
10220141 |
1999 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
|
10319579 |
1999 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
|
10531334 |
1999 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
|
10585341 |
1999 |