Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Kidney, Autosomal Dominant
0.020 Biomarker disease BEFREE Meanwhile, ER resident protein SEC63 may modify disease severity in autosomal dominant polycystic kidney disease. 30099615 2019
Polycystic Kidney, Autosomal Dominant
0.020 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