COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.110 GeneticVariation phenotype BEFREE CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO