Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation ORPHANET Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 12414820

2002
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation ORPHANET Cytochrome c oxidase deficiency. 11579424

2001
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation ORPHANET A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. 11063732

2000
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation ORPHANET Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. 9634511

1998
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation ORPHANET A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 8630495

1996