COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Disease: NEPHROTIC SYNDROME, TYPE 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122982
rs398122982
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		AT 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013