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: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 Biomarker disease CTD_human
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 GeneticVariation disease CLINVAR
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 CausalMutation disease CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 Biomarker disease GENOMICS_ENGLAND ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 GeneticVariation disease UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9
0.700 GeneticVariation disease UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016