Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 Biomarker disease GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 GeneticVariation disease BEFREE Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472 2006