COQ8B, coenzyme Q8B, 79934

N. diseases: 18; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.600 GeneticVariation disease UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.600 GeneticVariation disease UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2014
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.600 CausalMutation disease CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2014
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.600 CausalMutation disease CLINVAR Primary Coenzyme Q<sub>10</sub> Deficiency 28125198 1993
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.600 Biomarker disease CTD_human