COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		0.100 Biomarker disease HPO
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		0.100 Biomarker disease HPO
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		0.100 Biomarker phenotype HPO
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		0.100 Biomarker phenotype HPO
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.010 GeneticVariation phenotype BEFREE <b>Conclusions:</b> Our findings suggest an interaction of long-term exposure to COX inhibitors combined with functional variants of the COX enzymes in the risk of developing DILI. 30873208 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.100 Biomarker disease BEFREE <b>Purpose:</b> Congenital hemophilia A and B are bleeding disorders characterized by deficiency of factors VIII and IX, respectively. 31354248 2019
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		0.020 Biomarker disease BEFREE <b>Purpose:</b> Cerebral aneurysms that compress cranial nerve VIII can cause hearing loss and imbalance. 31793349 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.090 GeneticVariation phenotype BEFREE <i>COX-2</i> gene methylation was significantly associated with the depth of invasion (P = 0.003), lymph node metastasis (P = 0.009), distant metastasis (P = 0.036), and TNM staging (P = 0.007). 30079321 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.090 GeneticVariation disease BEFREE <i>COX-2</i> gene methylation was significantly associated with the depth of invasion (P = 0.003), lymph node metastasis (P = 0.009), distant metastasis (P = 0.036), and TNM staging (P = 0.007). 30079321 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 GeneticVariation phenotype BEFREE <i>COX-2</i> gene methylation was significantly associated with the depth of invasion (P = 0.003), lymph node metastasis (P = 0.009), distant metastasis (P = 0.036), and TNM staging (P = 0.007). 30079321 2018
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE 3' end of exon 14 of F VIII gene from a mild hemophilia A patient of Chinese origin was amplified by polymerase chain reaction (PCR) and identified mutations by denaturing gradient gel electrophoresis (DGGE) combining with direct sequencing. 9594277 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 Biomarker disease BEFREE 5-ASA also inhibits the growth of DLD-1, a COX-deficient CRC cell line, thus suggesting that the anti-proliferative effect of 5-ASA on CRC cells is not strictly dependent on the inhibition of COX-2/PGE2. 17981262 2008
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE 92 out of 111 HA patients (F VIII activity < 1%) were suffering from severe HA. 11246535 2001
CUI: C0272325
Disease: Factor 8 deficiency, acquired
Factor 8 deficiency, acquired 		0.100 Biomarker disease BEFREE : Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the development of autoantibodies against clotting factor VIII. 30864964 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.100 AlteredExpression disease BEFREE : Men and boys who present with bleeding associated with low factor VIII levels and normal von Willebrand studies are assumed to have hemophilia A until proven otherwise. 30036281 2018