Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 		0.800 GeneticVariation UNIPROT Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 21412973

2011
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 		0.800 GeneticVariation UNIPROT Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 12474143

2003
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 GeneticVariation UNIPROT Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660

2005
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004