rs28939711, CUTC;COX15

N. diseases: 5
Disease: nervous system disorder ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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