CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease MGD A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. 28600349 2017
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. 9048920 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. 9888388 1999
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease CTD_human The hereditary coproporphyria is caused by a new mutation in the coproporphyrinogen oxidase gene in the case of a dual porphyria with co-existence of porphyria cutanea tarda and hereditary coproporphyria. 11831056 2002
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause "homozygous" HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase. 11309681 2001
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. 9048920 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT Three novel mutations in the coproporphyrinogen oxidase gene. 8990017 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE No Italian patients with defects in coproporphyrinogen oxidise (CPOX) gene, responsible for hereditary coproporphyria (HCP), have been detected. 12699245 2002
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. 7592568 1995
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE For HC, the CPO mRNA determinations strongly suggest that normal CPO alleles with low-expression are present, but whether this low-expression of the wild-type allele could modulate the penetrance of a CPO gene defect in HC families remains to be ascertained. 14669009 2004
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE The pattern of porphyrin excretion and the coproporphyrinogen oxidase from the three patients exhibited abnormalities that were different from the abnormalities found in another recently described homozygous case of hereditary coproporphyria. 6886003 1983
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 CausalMutation disease CLINVAR
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT We investigated the molecular basis of hereditary coproporphyria in three unrelated patients, amplifying each exon of the coproporphyrinogen oxidase gene and performing heteroduplex analysis to look for mutations. 9298818 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria. 16176984 2005
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease LHGDN Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria. 16176984 2005
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. 21231929 2012
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. 9843038 1998
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. 9888388 1999
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 Biomarker disease BEFREE Here, we explored mitochondrial energetics in peripheral blood mononuclear cells [PBMCs] and platelets in persons with AIP and hereditary coproporphyria [HCP]. 31153822 2019
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. 7849704 1994
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. 9074789 1997
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 16398658 2006
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease BEFREE DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria. 11202054 2000
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 AlteredExpression disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant acute hepatic porphyria due to the half-normal activity of the heme biosynthetic enzyme, coproporphyrinogen oxidase (CPOX). 21103937 2011