Gene: COX10 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. 24100867 2013
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease. 17715058 2007
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. 14607829 2004
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. 15455402 2004
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy. 12928484 2003
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 AlteredExpression disease BEFREE Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy. 12928484 2003
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease GENOMICS_ENGLAND A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. 10767350 2000
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease GENOMICS_ENGLAND Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 10545952 1999
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CLINGEN COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase. 2167310 1990
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.610 Biomarker disease CTD_human