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 Biomarker disease BEFREE This caused Pkd1 KO mice to reach ESRD significantly faster; unexpectedly, double KO mice survived significantly longer. 31038742 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Multiple distinct mutations in the protein polycystin 1 (PC1) cause autosomal dominant polycystic kidney disease (ADPKD), a common cause of end stage renal disease. 30073588 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE We conducted a longitudinal retrospective cohort study to assess the association between sex of the affected parent and time to hypertension diagnosis, end-stage renal disease (ESRD), and death in patients with the PKD1 genotype. 29035198 2018
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 GeneticVariation disease BEFREE Furthermore, patients with PKD1-truncating mutations reached end-stage renal disease (ESRD) earlier than patients with non-truncating mutations (47 ± 3.522 years vs. 59 ± 11.687 years, P = 0.016). 26632257 2015
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 Biomarker 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 Biomarker 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 Biomarker disease BEFREE Male ADPKD patients were 42% more likely to reach ESRD (P < 0.001), and male patients with documented PKD1 were 41% more likely to reach ESRD (P = 0.01) than female patients. 18215695 2008
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 Biomarker disease BEFREE Male sex, PKD1 gene, episodes of gross hematuria, and the precocity and severity of hypertension play an important role in the progression of renal disease to ESRF. 15785425 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 The clinical data of affected individuals from this study, and of previously reported Korean PKD1 mutations, showed that patients with frameshift or nonsense mutations were more prone to develop end-stage renal failure than those with missense mutations. 12220456 2002
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE This study has shown that the position of the PKD1 mutation is significantly associated with earlier ESRD and questions whether PKD1 mutations simply inactivate all products of the gene. 11961010 2002
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 Biomarker disease BEFREE This effect was confirmed in a subset of males linked to PKD1 and reaching ESRD before age 45, and by a cumulative renal survival analysis in PKD1-linked families. 11823442 2002
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE The only difference is that patients with PKD2 mutations run a milder course compared to PKD1 carriers, with an average 10-20 years later age of onset and lower probability to reach end-stage-renal failure. 11438989 2001
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE PKD2 is a milder form of the disease, with a mean age of end-stage renal disease (ESRD) approximately 20 years later than PKD1. 11007674 2000
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Median age at death or onset of end-stage renal disease was 53.0 years (95% CI 51.2-54.8) in individuals with PKD1, 69.1 years (66.9-71.3) in those with PKD2, and 78.0 years (73.8-82.2) in controls. 10023895 1999
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE Locus heterogeneity in ADPKD is known to contribute to differences in disease severity, with PKD1-linked families having earlier onset of end-stage renal disease (ESRD) than PKD2-linked families (mean age at ESRD: 56 versus 70, respectively). 9773786 1998
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE To determine the effect of the ACE gene insertion/deletion (I/D) polymorphism, angiotensinogen gene M235T polymorphism and the angiotensin 1 receptor gene A1166C polymorphism on the age of onset of end-stage renal failure (ESRF) in PKD1 adult autosomal-dominant polycystic kidney disease (ADPKD), 189 individuals from 46 families with PKD1 were genotyped for each polymorphism. 9291178 1997
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
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease BEFREE In PKD1 families, resemblance in age of onset of ESRD was apparent; variation was less within than between families (F = 13.0, P less than 0.0001), and risk of false negative ultrasonographic diagnosis appears largely restricted to families in which ESRD occurs relatively late. 1605247 1992