Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.020 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited cause of renal failure in adults, and is due to loss-of-function mutations in either the PKD1 or PKD2 genes, which encode polycystin-1 and polycystin-2, respectively. 26718155 2015
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.020 GeneticVariation disease BEFREE Locus heterogeneity is a major determinant for interfamilial disease variability (i.e., patients from PKD1-linked families have a significantly earlier onset of ESRD compared with patients from PKD2-linked families). 12707387 2003