Disease: Renal cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 GeneticVariation phenotype BEFREE Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). 30599104 2019
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 Biomarker phenotype BEFREE Compared with PCK, the FHH.Pkhd1 strain had significantly decreased renal cyst formation that coincided with a threefold reduction in mean kidney weights.Further analysis revealed that the FHH. 22669842 2012
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 Biomarker phenotype BEFREE Antagonists of relevant Gs protein-coupled and agonists of relevant Gi protein-coupled receptors lower renal cAMP and inhibit growth of renal cysts in animal models of human ARPKD (PCK rat) and/or ADPKD (Pkd2(-/WS25) mouse). 18826972 2009
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 Biomarker phenotype BEFREE We found down-regulation of kidney epithelial restricted genes (e.g. nephron segment-specific markers and cilia-associated cystic genes such as HNF1B, PKHD1, IFT88 and CYS1) in the renal cysts. 19346236 2009
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 AlteredExpression phenotype BEFREE Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. 15067314 2004
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 Biomarker phenotype HPO
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.150 CausalMutation phenotype CLINVAR