COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Disease: Nephrosis, congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.010 GeneticVariation disease BEFREE A case of congenital nephrotic syndrome was attributed to a homozygous missense mutation in ADCK4, and a de novo missense mutation in TRPC6 was detected in a case of infantile nephrotic syndrome. 28204945 2017