Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease and is caused by heterozygous germ-line mutations in either PKD1 (85%) or PKD2 (15%). 31767049 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group BEFREE Caffeine consumption from conception through 12 weeks led to increased cystic index and total kidney volume and worsened renal function in Pkd1-deficient cystic mice, suggesting that high consumption of caffeine may contribute to a faster progression of renal disease in ADPKD. 30977988 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder with mutations in PKD1 or PKD2. 29529603 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. 29887830 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease is the most common monogenetic kidney disorder and is linked to mutations in PKD1 and PKD2. 29633426 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and is due to disease-causing variants in PKD1 or PKD2. 27165007 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Mutations in polycystin 1 and 2 (PC1 and PC2) cause the common genetic kidney disorder autosomal dominant polycystic kidney disease (ADPKD). 25228769 2014
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and results from mutations in PKD1 or PKD2. 23594398 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group BEFREE Compared with PKD2, patients with PKD1 typically have more severe renal disease. 22031115 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group BEFREE Instead of knocking out Pkd1 immediately, or completely, these more subtle approaches may help deliver more faithful models of this significant human renal disease. 20938930 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease in man and is caused by germline mutations in PKD1 or PKD2. 21894000 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited human kidney disease and is caused by germline mutations in PKD1 (85%) or PKD2 (15%). 16720597 2006
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group BEFREE Mutations in either polycystin-2 (PC2) or polycystin-1 (PC1) proteins cause severe, potentially lethal, kidney disorders (autosomal dominant polycystic kidney disease, ADPKD) and multiple extrarenal disease phenotypes. 15709698 2004
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is characterized by a variable renal disease progression, which is primarily due to genetic heterogeneity (PKD1 vs. PKD2). 12832751 2003
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 GeneticVariation group BEFREE The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. 11961010 2002