COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Disease: Cytochrome-c Oxidase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GeneticVariation disease BEFREE The accumulation of H(2)S over time causes progressive COX deficiency in animal tissues and human cells, which is associated with reduced amount of COX holoenzyme, and of several COX subunits, including mitochondrially encoded cytochrome c oxidase 1 (MTCO1), MTCO2, COX4, and COX5A. 20812865 2011
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GermlineCausalMutation disease ORPHANET Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789 2006
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GeneticVariation disease UNIPROT Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789 2006
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GeneticVariation disease UNIPROT Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182 2002
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GermlineCausalMutation disease ORPHANET Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182 2002
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 GermlineCausalMutation disease ORPHANET Cytochrome c oxidase deficiency. 11579424 2001
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 Biomarker disease BEFREE In the following article, the phenotypes of the two Ptgs (genes coding for COX-1 and COX-2) knockouts are summarized, and recent studies to investigate the effects of COX deficiency on cancer susceptibility, inflammatory response, gastric ulceration, and female reproductive processes are discussed. 10487525 1999
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.620 CausalMutation disease CLINVAR