COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.120 GeneticVariation group BEFREE Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. 28521807 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.120 GeneticVariation group BEFREE Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. 11558799 2001
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.120 CausalMutation group CLINVAR