Gene: COX3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.400 GermlineCausalMutation disease 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 		0.400 GermlineCausalMutation disease ORPHANET Cytochrome c oxidase deficiency. 11579424 2001
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.400 GermlineCausalMutation disease 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 		0.400 GermlineCausalMutation disease 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 		0.400 GermlineCausalMutation disease ORPHANET A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 8630495 1996
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.400 CausalMutation disease CLINVAR