COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Disease: Alport Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 GeneticVariation disease BEFREE We found there were no clinical features of Alport syndrome not only in six probands with c.2858G>T(p.(G953V)) in COL4A5 plus pathogenic variants in other genes (e.g., WT1, ADCK4, NPHP1, TRPC6, COL4A4, and PAX2) but also in another six probands with only the c.2858G>T(p.(G953V)) variant. 31576025 2020