rs149718203, CUTC;COX15

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Leigh syndrome associated with a novel mutation in the COX15 gene. 26959537 2016
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. 22310368 2012
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 21412973 2011
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation CLINVAR Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660 2005
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 CausalMutation CLINVAR