Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Autosomal dominant polycystic kidney disease. 26364947 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease. 26275819 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Predictors of autosomal dominant polycystic kidney disease progression. 24925719 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. 23376035 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. 17429049 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease. 11095651 2000
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. 11007674 2000
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR PKD and CF: an interesting family provides insight into the molecular pathophysiology of polycystic kidney disease. 9856528 1998
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. 9856513 1998