CPO, carboxypeptidase O, 130749

N. diseases: 15; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). 19267996 2009
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 AlteredExpression disease BEFREE Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. 16159891 2005
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE A few patients have also been reported who are homoallellic or heteroallelic for CPO mutations and are clinically distinct from those with HCP. 11309681 2001
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Five intragenic dimorphisms are now well characterized and the high degree of allelic heterogeneity in HC is demonstrated with seven new different mutations making a total of nineteen CPO gene defects reported so far. 9888388 1999
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.050 GeneticVariation disease BEFREE Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. 9843038 1998
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.020 AlteredExpression disease BEFREE Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. 16159891 2005
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.020 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: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 Biomarker disease BEFREE We tested methylation profile difference at each CpG between controls (n = 436) and each of the cleft subtypes (92 cleft lip only, CLO; 84 cleft palate only, CPO; 132 cleft lip and palate, CLP). 30832715 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Targeting Apolipoprotein E/Amyloid β Binding by Peptoid CPO_Aβ17-21 P Ameliorates Alzheimer's Disease Related Pathology and Cognitive Decline. 28808293 2017
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 Biomarker phenotype BEFREE Targeting Apolipoprotein E/Amyloid β Binding by Peptoid CPO_Aβ17-21 P Ameliorates Alzheimer's Disease Related Pathology and Cognitive Decline. 28808293 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE Targeting Apolipoprotein E/Amyloid β Binding by Peptoid CPO_Aβ17-21 P Ameliorates Alzheimer's Disease Related Pathology and Cognitive Decline. 28808293 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 Biomarker disease BEFREE Our study suggests the non-toxic, non-fibrillogenic peptoid CPO_Aβ17-21 P has significant promise as a new AD therapeutic agent which targets the Aβ related apoE pathway, with improved efficacy and pharmacokinetic properties. 28808293 2017
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 GeneticVariation disease BEFREE A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. 27018475 2016
CUI: C0266092
Disease: Congenital lip pits
Congenital lip pits 		0.010 GeneticVariation disease BEFREE A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. 27018475 2016
CUI: C0341059
Disease: Lip pit
Lip pit 		0.010 GeneticVariation disease BEFREE A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. 27018475 2016
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.010 Biomarker disease BEFREE The prevalence of duplications and deletions of the 22q11.2 (DiGeorge syndrome) region was studied among babies born in Norway with open cleft palate without cleft lip (cleft palate only, CPO). 17163526 2007
CUI: C0810363
Disease: Cleft palate without cleft lip
Cleft palate without cleft lip 		0.010 GeneticVariation disease BEFREE The prevalence of duplications and deletions of the 22q11.2 (DiGeorge syndrome) region was studied among babies born in Norway with open cleft palate without cleft lip (cleft palate only, CPO). 17163526 2007
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 Biomarker disease BEFREE The prevalence of duplications and deletions of the 22q11.2 (DiGeorge syndrome) region was studied among babies born in Norway with open cleft palate without cleft lip (cleft palate only, CPO). 17163526 2007
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED 		0.010 Biomarker disease BEFREE In a functional analysis of various deletion mutants, we found that the GATA-1 binding site at -143 to -138 was essential for basic and inducible expressions of the CPO gene in mouse erythroleukemia (MEL) cells. 9168923 1997