Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.640 GermlineCausalMutation ORPHANET Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. 11471180

2001
Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.640 GermlineCausalMutation ORPHANET Cytochrome c oxidase deficiency. 11579424

2001
Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.640 GermlineCausalMutation ORPHANET Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. 11558799

2001
Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.640 GermlineCausalMutation ORPHANET An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. 10205264

1999
Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.640 GermlineCausalMutation ORPHANET A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321

1999