Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE In frailty model controlled for age, gender, and familial clustering effect, PKD2 genotype had 0.2 times lower risk for reaching ESRD than PKD1-PT genotype (p = 0.037). 31740684 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in either PKD1 or PKD2 genes, is one of the most common human monogenetic disorders and the leading genetic cause of end-stage renal disease. 31515477 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 Biomarker disease BEFREE The proband, with an extremely serious manifestation of ADPKD (the man was diagnosed in early childhood, and with end stage renal disease aged 23), underwent genetic analysis of PKD1 and PKD2, which revealed the presence of pathogenic mutations in both of these genes. 29973168 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 Biomarker disease BEFREE Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). 29606500 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 Biomarker disease BEFREE While 4 individuals had ADPKD-PKD2, various COL4A1-related phenotypes were identified in 5 patients, and 3 individuals with likely digenic PKD2/COL4A1 disease reached end-stage renal disease at around 50 years of age, significantly earlier than observed for either monogenic disorder. 29395486 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. 23496908 2013
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Mutations in the PKD2 gene cause autosomal dominant polycystic kidney disease (ADPKD), a common, inherited disease that frequently leads to end-stage renal disease (ESRD). 21277361 2011
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with larger kidneys and earlier onset of end-stage renal disease. 21071968 2011
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with bigger kidneys and earlier onset of end-stage renal disease. 20807608 2010
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE ADPKD caused by PKD2 mutations is characterized by a longer survival and a later onset of end-stage renal disease than ADPKD caused by PKD1 mutations. 17100995 2006
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 Biomarker disease BEFREE The age of 63 was used as the cut-off because it is between the recently published ages of onset of ESRF for PKD1 and PKD2. 14993477 2004
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 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
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE We analyzed all exons and intron-exon boundaries of the PKD2 gene by single-strand conformation polymorphism analysis and silver staining technique in 46 patients with ADPKD who reached ESRD after the age of 63 years or were not yet undergoing renal replacement therapy (RRT) by that age. 11007674 2000
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Renal cysts developed at an earlier age in PKD1 mutation carriers, and end stage renal failure occurred at an older age in people affected with PKD2. 7666395 1995