COX5A, cytochrome c oxidase subunit 5A, 9377

N. diseases: 171; N. variants: 3
Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.050 GeneticVariation disease BEFREE We also observed a total 13 nucleotide variations across COX genes, which is otherwise not common in LS. 31352295 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.050 AlteredExpression disease BEFREE We conclude that Surf1 is essential for COX activity and mitochondrial function in D. melanogaster, thus providing a new tool that may help clarify the pathogenic mechanisms of LS. 25164807 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.050 Biomarker disease BEFREE SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. 21266382 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.050 Biomarker disease BEFREE This result demonstrates that all our cases were genetically homogeneous, and suggests that a major nuclear disease locus is associated with several, perhaps most, of the cases of infantile COX(-) Leigh's syndrome. 9063742 1997
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.050 Biomarker disease BEFREE The results indicate a defective COX holoenzyme complex in patients with Leigh syndrome and suggest different molecular origins of the defect. 8781533 1996