COX3, cytochrome c oxidase III, 4514

N. diseases: 195; N. variants: 75
Disease: Diabetes-deafness syndrome maternally transmitted (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		0.010 GeneticVariation disease BEFREE A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. 25701779 2015