COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
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
0.020 GeneticVariation disease BEFREE Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes. 30225196 2018
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
0.020 Biomarker disease BEFREE Diploid yeast haploinsufficient for COQ4 displayed similar CoQ deficiency. 22368301 2012