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: C0023264
Disease: Leigh Disease
Leigh Disease
0.010 GeneticVariation disease BEFREE Our cases expand the phenotypic spectrum of COQ4 mutations and the genotypic spectrum of Leigh syndrome. 30659264 2019