Gene: PCBD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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