COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.010 GeneticVariation disease BEFREE A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. 28550590 2017