COX5A, cytochrome c oxidase subunit 5A, 9377

N. diseases: 171; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 GermlineCausalMutation disease ORPHANET Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. 28247525 2017
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 Biomarker disease BEFREE The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. 21266382 2011
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 Biomarker disease BEFREE The accumulation of H(2)S over time causes progressive COX deficiency in animal tissues and human cells, which is associated with reduced amount of COX holoenzyme, and of several COX subunits, including mitochondrially encoded cytochrome c oxidase 1 (MTCO1), MTCO2, COX4, and COX5A. 20812865 2011
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 Biomarker disease BEFREE Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency. 18499082 2008
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 GeneticVariation disease BEFREE Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families. 16288875 2005
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.350 GeneticVariation disease BEFREE No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. 9402980 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation disease BEFREE In conclusion, the use of COX inhibitors was associated with a reduced risk of HCC in CHB. 31505085 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE COX regression analysis showed that FEAT was an independent prognostic factor for recurrence in breast cancer, but not for survival. 27881013 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Non-steroidal anti-inflammatory drugs (NSAIDs) exert their anti-inflammatory, analgesic, and antipyretic effects by reversibly or irreversibly acetylating COX isoforms, inhibiting downstream prostaglandins, and may have a chemopreventive role in malignancies, including skin cancer. 30523664 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE The COX proportional hazard model predicts that among these, the relative expression of circRNA_104916 and lymphatic metastatic status independently predict the prognosis of patients with cancer. 30844715 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Apart from their anti-inflammatory action, COX inhibitors have gathered the interest of many scientists due to their potential use for the treatment and prevention of cancer. 31064095 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In the survival analysis, COX regression showed that T stage, plasma miRNA 106b and tumor miRNA 93 were significant risk factors for overall survival [HR: 0.400 (0.205-0.780); <i>P </i>= 0.007; HR: 0.371 (0.142-0.969), <i>P </i>= 0.043; 0.295 (0.134-0.650), <i>P </i>= 0.002]. 31384175 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Many in vitro and in vivo studies on human and animal models have explained the mechanisms of the chemopreventive effect of COX inhibitors such as: induction of apoptosis, inhibition of neoplasia, angiogenesis suppression, induction of cell cycle inhibition and inhibition of the expression of peroxisome proliferator-activated receptors. 30897717 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Subsequently, univariate COX analysis identified that high expression of SOX8 (P = .004), differentiation (P = .006), distant metastasis (P <.001), tumor stage (P = .003), and higher rate of lymph node metastasis (P <.001), all significantly predicted decrease in OS. 31277140 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE COX regression analysis showed that FEAT was an independent prognostic factor for recurrence in breast cancer, but not for survival. 27881013 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Apart from their anti-inflammatory action, COX inhibitors have gathered the interest of many scientists due to their potential use for the treatment and prevention of cancer. 31064095 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE The COX proportional hazard model predicts that among these, the relative expression of circRNA_104916 and lymphatic metastatic status independently predict the prognosis of patients with cancer. 30844715 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 Biomarker disease BEFREE Univariate COX regression analysis was performed to screen the candidate genes significantly associated with OS of HCC in a discovery cohort (GSE14520) for the least absolute shrinkage and selection operator modelling. 31011256 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 Biomarker disease BEFREE Univariate COX regression analysis was performed to screen the lncRNAs significantly associated with recurrence-free survival (RFS) of HCC in GSE76427 for the least absolute shrinkage and selection operator (LASSO) modelling. 30670911 2019
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The risk factors for the prognosis of patients with different subtypes of BC were analyzed using Kaplan‑Meier and COX regression analyses. 29620140 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The SNPs in the COX genes may help us to evaluate the cancer risk of HCC. 28703354 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE [(Prop-2-ynyl)-2-acetoxybenzoate]dicobalthexacarbonyl (Co-ASS), an organometallic derivative of the irreversible cyclooxygenase-1/2 (COX-1/2) inhibitor acetylsalicylic acid (ASS), demonstrated high growth-inhibitory potential against various tumor cell lines and inhibition of both COX isoenzymes. 29492489 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE COX regression multivariate analysis identified post auto-SCT treatment failure before 12 months (hazard ratio (HR) 3.37, CI 1.7-6.6, P value < 0.001), presence of B symptoms (HR 2.55, CI 1.4-4.6, P value 0.002), stages III-IV (HR 2.7, CI 1.5-4.9, P value 0.001), albumin < 4 g/dl (HR 1.76, CI 1.1-2.9, P value 0.027) and tumor > 5 cm (HR 1.1.9, CI 1.13-3.25, P value 0.015) as significant risk factors; P value < 0.001. 29484455 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 PosttranslationalModification phenotype BEFREE These results demonstrated that <i>COX-2</i> promoter methylation was significantly higher in tumor tissues, and was an early event for GC, thus, <i>COX-2</i> gene methylation may be important in the initial development of gastric carcinogenesis. 30079321 2018