DisGeNET - a database of gene-disease associations

CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19

Disease: Hereditary Coproporphyria ×

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:

rs121917870

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs121917872

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs121917873

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs121917874

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs201826432

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs759347283

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

16398658

2006

dbSNP:

rs121917870

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs121917872

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs121917873

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs121917874

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs201826432

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs759347283

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

15896662

2005

dbSNP:

rs121917870

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs121917872

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs121917873

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs121917874

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs201826432

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs759347283

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

12181641

2002

dbSNP:

rs121917870

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs121917872

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs121917873

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs121917874

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs201826432

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs759347283

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

9888388

1999

dbSNP:

rs121917870

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

CUI:	C0162531
Disease:

Hereditary Coproporphyria

0.700

GeneticVariation

UNIPROT

Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.

9298818

1997