DisGeNET - a database of gene-disease associations

PCBD1, pterin-4 alpha-carbinolamine dehydratase 1, 5092

N. diseases: 68; N. variants: 8

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894177

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.800

GeneticVariation

UNIPROT

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

9760199

1998

dbSNP:

rs104894177

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.800

GeneticVariation

UNIPROT

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

8352282

1993

dbSNP:

rs104894177

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.800

CausalMutation

CLINVAR

dbSNP:

rs770334825

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

CausalMutation

CLINVAR

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

27246466

2017

dbSNP:

rs10999573

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C0206161
Disease:

Reticulocyte count (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

CLINVAR

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

24204001

2014

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

CLINVAR

Disease variants in genomes of 44 centenarians.

25333069

2014

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

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

dbSNP:

rs397518416

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

UNIPROT

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

9760199

1998

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

CLINVAR

Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.

8618906

1995

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

CLINVAR

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

8352282

1993

dbSNP:

rs397518416

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

UNIPROT

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

8352282

1993

dbSNP:

rs104894172

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

CausalMutation

CLINVAR

dbSNP:

rs115117837

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913014

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913015

Entrez Id:	5092
Gene Symbol:	PCBD1

PCBD1

CUI:	C1849700
Disease:

Hyperphenylalaninemia with primapterinuria

0.700

CausalMutation

CLINVAR