Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.110 GeneticVariation disease BEFREE Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PLCE1) as causing early-onset nephrotic syndrome with end-stage kidney disease. 17086182 2006
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.110 Biomarker disease HPO