Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation UNIPROT Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. 15863660

2005
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 		0.600 GeneticVariation UNIPROT Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 21412973

2011
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 		0.600 GeneticVariation UNIPROT Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 12474143

2003