COX3, cytochrome c oxidase III, 4514

N. diseases: 195; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 GeneticVariation disease BEFREE Two (22%) of 9 COPN patients harbored an LHON-associated mtDNA mutation at nucleotide position 9438 and a novel mutation at nucleotide position 9738 in the cytochrome c oxidase subunit III gene. 7804416 1994
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 GeneticVariation disease UNIPROT New mitochondrial DNA mutations were discovered in the cytochrome c oxidase subunit III gene in 8 independent Leber hereditary optic neuropathy probands. 8240356 1993
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 CausalMutation disease CLINVAR
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 Biomarker disease CTD_human
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 Biomarker disease HPO
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.510 GeneticVariation disease LHGDN Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. 18587274 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.510 GeneticVariation disease ORPHANET Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. 18587274 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.510 Biomarker disease CTD_human
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		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
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation disease ORPHANET Cytochrome c oxidase deficiency. 11579424 2001
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		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
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation disease ORPHANET Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. 9634511 1998
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 GermlineCausalMutation disease ORPHANET A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 8630495 1996
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 CausalMutation disease CLINVAR
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.300 Biomarker disease CTD_human Mitochondrial dysfunction and ultrastructural damage in the hippocampus of pilocarpine-induced epileptic rat. 17092649 2007
CUI: C0014558
Disease: Uncinate Epilepsy
Uncinate Epilepsy 		0.300 Biomarker disease CTD_human Mitochondrial dysfunction and ultrastructural damage in the hippocampus of pilocarpine-induced epileptic rat. 17092649 2007
CUI: C0393672
Disease: Epilepsy, Benign Psychomotor, Childhood
Epilepsy, Benign Psychomotor, Childhood 		0.300 Biomarker disease CTD_human Mitochondrial dysfunction and ultrastructural damage in the hippocampus of pilocarpine-induced epileptic rat. 17092649 2007
CUI: C0393682
Disease: Epilepsy, Lateral Temporal
Epilepsy, Lateral Temporal 		0.300 Biomarker disease CTD_human Mitochondrial dysfunction and ultrastructural damage in the hippocampus of pilocarpine-induced epileptic rat. 17092649 2007
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 GeneticVariation disease BEFREE Three cases with m.8993T>G mutation, two patients with the novel m.5523T>G and m.5559A>G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome c oxidase subunit III (COXIII) gene were found with LS. 23301511 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 GeneticVariation disease BEFREE Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. 20525945 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 CausalMutation disease CLINVAR Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. 20525945 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 CausalMutation disease CLINVAR 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
CUI: C0086543
Disease: Cataract
Cataract 		0.110 AlteredExpression disease BEFREE However, the mRNA expression levels of MTCO3 in patients with grade 3‑NUC opacification and MTCO1‑3 in patients with grade‑3 PSC opacification, along with the ATP content, were significantly lower than in patients without cataracts. 31059062 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 GeneticVariation group LHGDN Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. 16288875 2005