| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | BEFREE | The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. | 26685157 | 2016 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. | 26685157 | 2016 | ||||
|
0.750 | GermlineCausalMutation | disease | ORPHANET | The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. | 26685157 | 2016 | ||||
|
0.750 | Biomarker | disease | BEFREE | The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. | 21266382 | 2011 | ||||
|
0.750 | Biomarker | disease | BEFREE | Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency. | 18499082 | 2008 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families. | 16288875 | 2005 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. | 9402980 | 1997 | ||||
|
0.750 | CausalMutation | disease | CLINVAR | |||||||
|
0.750 | Biomarker | disease | CTD_human |