COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: Neonatal disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder 		0.010 GeneticVariation group BEFREE The clinical phenotypes of human CoQ<sub>10</sub>-deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. 29296619 2017