CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Disease: Hereditary Coproporphyria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917872
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: rs121917872
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: rs121917872
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: rs121917872
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: rs121917872
rs121917872
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease:
Hereditary Coproporphyria 		0.700 GeneticVariation UNIPROT Three novel mutations in the coproporphyrinogen oxidase gene. 8990017 1997
dbSNP: rs121917872
rs121917872
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
dbSNP: rs121917872
rs121917872
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease:
Hereditary Coproporphyria 		0.700 GeneticVariation UNIPROT A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. 9048920 1997
dbSNP: rs121917872
rs121917872
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease:
Hereditary Coproporphyria 		0.700 GeneticVariation UNIPROT A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. 7757079 1995
dbSNP: rs121917872
rs121917872
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease:
Hereditary Coproporphyria 		0.700 GeneticVariation UNIPROT Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. 7849704 1994
dbSNP: rs121917872
rs121917872
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease:
Hereditary Coproporphyria 		0.700 GeneticVariation UNIPROT Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. 8012360 1994