×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
CausalMutation
disease
CLINVAR
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
27246466
2017
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
CLINVAR
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
24204001
2014
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
BEFREE
Of seven PCBD1 mutations previously reported in HPABH4D patients, five mutations caused proteolytic instability, leading to reduced FXYD2 promoter activity.
24204001
2014
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
24848070
2014
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
CLINVAR
Disease variants in genomes of 44 centenarians.
25333069
2014
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
UNIPROT
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
9760199
1998
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GermlineCausalMutation
disease
ORPHANET
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
9760199
1998
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
9585615
1998
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
CLINVAR
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
9585615
1998
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
CLINVAR
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.
8618906
1995
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
CLINVAR
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
8352282
1993
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
GeneticVariation
disease
UNIPROT
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
8352282
1993
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
8352282
1993
×
Entrez Id:
5092
Gene Symbol:
PCBD1
PCBD1
0.710
Biomarker
disease
CTD_human