SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
Disease: Mitochondrial Respiratory Chain Deficiencies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		0.300 Biomarker disease CTD_human The pathogenic mutant (P174L) of human Sco1 produces respiratory chain deficiency associated with cytochrome c oxidase (CcO) assembly defects. 17182746 2007