Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus. 2370053 1990
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Assuming that a clinic population represents the most severe forms of a disease and non PKD-1 is a less aggressive phenotype, the degree of genetic heterogeneity for APKD in the population may well be much greater than at present suggested. 8261645 1993
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Direct sequence analysis of exons encoding all the 16 PKD domains was performed on PCR products from a group of 24 unrelated patients with autosomal dominant polycystic kidney disease (ADPKD [MIM 173900]). 10364515 1999
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE The fact that most mutations from ADPKD patients result in truncated polycystins as well as evidence of a loss of heterozygosity mechanism in individual PKD cysts indicate that the loss of the function of either PKD1 or PKD2 is the most likely pathogenic mechanism for ADPKD. 10655152 2000
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism. 11287778 2001
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE This study not only produced an invaluable and first PKD model to evaluate molecular pathogenesis and therapies but also provides evidence that gain of function could be a pathogenetic mechanism in ADPKD. 16449663 2006
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Gender, gender of parent who transmitted PKD, family history of essential hypertension, multiparity, and use of the oral contraceptive pill were not identified as risk factors for renal events in ADPKD. 17699277 2006
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Here we utilized different kidney cell-lines expressing wild-type and mutant PKD2 as well as primary tubular epithelial cells isolated from a PKD transgenic rat to further explore the contribution of the p21/Cdk2 pathway in ADPKD proliferation. 18721488 2008
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Based on the identification of pathways altered in PKD, a large number of preclinical studies have been performed and are underway, providing a basis for clinical trials in ADPKD and helping the design of future trials. 21625823 2011
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE A therapeutic intervention targeting aberrant cilia-cell cycle connection using CDK-inhibitor R-roscovitine showed effective arrest of PKD in jck and cpk models that are not orthologous to human ADPKD. 23032260 2012
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Furthermore, we found the similar expression patterns of deregulated genes between PKD/Mhm (cy/+) rat and human ADPKD, PKD1(L3/L3), PKD1(-/-), Hnf1α-deficient, and Glis2(lacZ/lacZ) models. 23326503 2013
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE In human subjects we found an association between ADPKD and IDCM and suggest that PKD mutations contribute to the development of heart failure. 23376035 2013
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE We show that mutation of PKD1 results in enhanced glycolysis in cells in a mouse model of PKD and in kidneys from humans with ADPKD. 23524344 2013
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63. 24506938 2014
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA). 24694054 2014
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq). 24821069 2014
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE In the majority of mice, these changes preceded a rapid and massive onset of severe PKD that was remarkably similar to human ADPKD. 25361818 2015
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3. 25519866 2014
Polycystic Kidney, Autosomal Dominant
0.100 AlteredExpression disease BEFREE This study not only provides one of the mechanisms of how c-Myc is upregulated in PKD but also suggests that targeting Brd4 with JQ1 may function as a novel epigenetic approach in ADPKD. 25877301 2015
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE PLD co-exists with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive PKD as well as occurs alone (i.e., Autosomal Dominant Polycystic Liver Disease [ADPLD]). 25915482 2017
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. 26139440 2016
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE The mutation screening of PKD genes in Chinese ADPKD patients will enrich our mutation database and significantly contribute to improve genetic counselling for ADPKD patients. 26632257 2015
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial. 27484667 2017
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE Severe neonatal autosomal-dominant polycystic kidney disease (ADPKD) is rare and easily confused with recessive PKD. 28194574 2017
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE Genetic deletion of the miR-17∼92 cluster inhibits cyst proliferation and PKD progression in four orthologous, including two long-lived, mouse models of ADPKD. 28205547 2017