COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: COENZYME Q10 DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.330 Biomarker disease BEFREE To further demonstrate that sulfides metabolism defects cause oxidative stress in CoQ deficiency, we show that silencing of sulfide quinone oxido-reductase (SQOR) in wild-type HeLa cells leads to similar increases of reactive oxygen species (ROS) observed in HeLa cells depleted of the CoQ biosynthesis regulatory protein COQ8A. 30251690 2018
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.330 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.330 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.330 GeneticVariation disease BEFREE ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.330 GeneticVariation disease BEFREE CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008