COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: Cytochrome-c Oxidase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606883
rs267606883
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789 2006
dbSNP: rs267606883
rs267606883
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182 2002