Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.020 GeneticVariation phenotype BEFREE Hypertension and aneurysm are frequently associated with autosomal dominant polycystic kidney disease (ADPKD) caused by polycystin-1 (PC1) mutations, which is closely related to endothelial dysfunction. 29472562 2018
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.020 GeneticVariation phenotype BEFREE The demonstration of endothelial dysfunction in Pkd1(+/-) mice and ADPKD patients, and the effect of the frequent Glu298Asp polymorphism of ENOS on renal disease progression in ADPKD suggest that an impaired release of nitric oxide (NO) by endothelial cells can accelerate renal function degradation. 12832751 2003