rs28939711, CUTC;COX15

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CUI: C3554534
Disease: 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
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CUI: C3554534
Disease: 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
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
0.800 CausalMutation CLINVAR
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873 2016
Leigh Disease
CUI: C0023264
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
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026 2004
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 CausalMutation CLINVAR
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
0.010 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873 2016
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
0.010 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873 2016