Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
0.020 GeneticVariation group BEFREE The patients with autosomal dominant polycystic kidney disease, which is caused by polycystin-1 or polycystin-2 (PKD2) mutation, display cardiovascular abnormalities and dysregulation in autophagy. 29271023 2018
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
0.020 GeneticVariation group BEFREE Mutations in PKD2 are also associated with extrarenal disorders, such as hepatic cystogenesis and cardiovascular abnormalities. 18754774 2008