COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.600 Biomarker disease CTD_human CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.600 GeneticVariation disease CLINVAR