Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease
0.220 GeneticVariation disease BEFREE Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort. 26862157 2016
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease
0.220 GeneticVariation disease BEFREE A nonsense mutation in the zebrafish CC2D2A ortholog (sentinel) results in pronephric cysts, a hallmark of ciliary dysfunction analogous to human cystic kidney disease. 18950740 2008
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease
0.220 Biomarker disease MGD