Source: CLINVAR

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 CLINVAR Leigh syndrome associated with a novel mutation in the COX15 gene. 26959537

2016
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation CLINVAR Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. 22310368

2012
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation CLINVAR Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 21412973

2011
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation CLINVAR Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. 15863660

2005