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 GeneticVariation disease BEFREE Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). 9747031 1998
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 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 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 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 Biomarker disease BEFREE Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. 7592568 1995
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. 7757079 1995
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 UNIPROT Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. 8012360 1994
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 GeneticVariation disease UNIPROT 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 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: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.300 Biomarker disease CTD_human [Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. 11831056 2002
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.210 Biomarker group RGD Hexachlorobenzene treatment on hepatic mitochondrial function parameters and intracellular coproporphyrinogen oxidase location. 19482825 2008
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.210 GeneticVariation group LHGDN Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009 2004
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. 30828546 2019
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site, thereby accounting for the Harderoporphyria phenotype. 21103937 2011
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 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: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE In the present study, molecular investigations in a second family with neonatal hemolytic anemia and harderoporphyria revealed two heterozygous point mutations in the COX gene. 9454777 1998
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. 7757079 1995
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 Biomarker disease BEFREE This allowed us to investigate the nature of the defect leading to a profound deficiency of coproporphyrinogen oxidase in a patient with homozygous hereditary coproporphyria. 8012360 1994
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 GeneticVariation disease BEFREE We suggest naming this variant of coproporphyrinogen oxidase defect "harderoporphyria." 6886003 1983
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.170 CausalMutation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 Biomarker group BEFREE In a different set of 14-day Ang II-salt-treated rats, mini-osmotic pumps were used to infuse either a nonselective COX (cyclooxygenase) inhibitor ketorolac, L-PGDS inhibitor AT56, or DP1R inhibitor BWA868C to test the role of brain COX-PGD2-DP1R signaling in Ang II-salt hypertension. 31587572 2019