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: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		0.010 GeneticVariation disease BEFREE We prospectively measured urinary copy number of the mtDNA genes COX3 and ND1 using qPCR in RVH patients before and 24 hrs after PTRA, performed during IV infusion of vehicle (n = 8) or the mitoprotective drug elamipretide (ELAM, 0.05 mg/kg/h, n = 6). 30803138 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 Biomarker disease BEFREE The mRNA expression levels of all 12 genes encoded protein, located on the heavy-strand of mitochondrial DNA including cytochrome b, NADH1, NADH2, NADH3, NADH4, NADH4L, NADH5, ATPase6, ATPase8, cytochrome c oxidase subunit 1, cytochrome c oxidase subunit 2, cytochrome c oxidase subunit 3 were analyzed in 30 head and neck squamous cell carcinoma (HNSCC) and the corresponding normal tissues using reverse transcriptase quantitative real time PCR. 30658318 2019
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE Missense or nonsense mtDNA mutations were detected in the genes encoding subunits of OXPHOS complexes, as follows: MT-ND1, MT-ND2, MT-ND4L and MT-ND6 of complex I; MT-CO3 of complex IV; and MT-ATP6 and MT-ATP8 of complex V. We discovered mtDNA mutations in childhood ALL supporting the hypothesis that non-neutral variants in mtDNA affecting the OXPHOS function may be related to leukemic clones. 28708239 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 Biomarker disease BEFREE The protein levels of peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α), mitofusin-2 (Mfn-2) and OXPHOS complexes (human: COI and COIII; cow: COI-IV) were significantly decreased in patients and cows with NASH. 29602237 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation group BEFREE A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. 25701779 2015
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		0.010 GeneticVariation disease BEFREE A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. 25701779 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE The main finding of the present study was that the co-localization of HBx and COXIII leads to upregulation of the mitochondrial function and ROS generation, which are associated with the oncogenesis of HBV-associated HCC. 25778742 2015
CUI: C4330695
Disease: Mitochondrial Diabetes
Mitochondrial Diabetes 		0.010 GeneticVariation disease BEFREE The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. 25701779 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation disease BEFREE A number of mtDNA mutations in breast cancer have been identified in protein-coding regions (in protein-coding genes, such as ND2, COX3, ND4, ND5 and CytB). 24253185 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation disease BEFREE A number of mtDNA mutations in breast cancer have been identified in protein-coding regions (in protein-coding genes, such as ND2, COX3, ND4, ND5 and CytB). 24253185 2014
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.010 GeneticVariation disease BEFREE An m.9856T>C (Ile217Thr) mutation in MT-CO3 from one LVNC patient was found to be a non-haplogroup associated variant, and was rare in the mtDB Human Mitochondrial Genome Database, suggesting that the variant may be pathogenic. 23465694 2013
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 GeneticVariation group BEFREE There was no family history of neuromuscular disorder and sequencing revealed a novel COX III single base pair deletion (MT-CO3{NC_012920.1}:m.[9559delC]). 21163656 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE NADH dehydrogenase subunit 3, cytochrome c oxidase subunit 3 and NADH dehydrogenase subunit 4 L in particular show cancer missense mutation rates 9-18 times that of germline. 20613764 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE NADH dehydrogenase subunit 3, cytochrome c oxidase subunit 3 and NADH dehydrogenase subunit 4 L in particular show cancer missense mutation rates 9-18 times that of germline. 20613764 2010
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		0.010 GeneticVariation group BEFREE Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy. 19460300 2009
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.010 GeneticVariation disease BEFREE The levels of COX (cytochrome c oxidase) I and COX III mRNA visible on Northern blots were reduced in LSFC patients due to the common (A354V, Ala354-->Val) founder mutation. 15139850 2004
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		0.010 AlteredExpression disease BEFREE Cytochrome c oxidase III was also found to be overexpressed in papillary carcinomas, while the nuclear-encoded mitochondrial transcription factor A showed similar mRNA expression levels in tumor and nontumor tissue. 12964965 2003
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 AlteredExpression group BEFREE We have shown that expression levels of COXIII, a mitochondrial gene encoding one of the 13 subunits of cytochrome c oxidase, are abnormally low in colon tumors and colonic tissue at genetic risk for developing tumors but increase following in vitro treatment of HT29 human colonic adenocarcinoma cells with the fatty acid butyrate. 1655774 1991
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE Mean level of expression of cytochrome c oxidase subunit 3 decreases progressively in colon adenomas and carcinomas relative to normal mucosa in vivo, and returns to higher levels present in biopsies of normal mucosa when the HT29 human colonic adenocarcinoma cell line is induced to differentiate with sodium butyrate. 2154329 1990
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3. 2154329 1990
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 Biomarker disease BEFREE In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3. 2154329 1990
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3. 2154329 1990
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3. 2154329 1990
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation disease BEFREE The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain. 31561357 2019