CBX4, chromobox 4, 8535

N. diseases: 33; N. variants: 2
Disease: Polycystic Kidney, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.020 Biomarker disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease characterized by renal cyst formation and caused by mutations in the PKD1 and PKD2 genes, which encode polycystin-1(PC-1) and -2 (PC-2) proteins, respectively. 21392577 2011
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.020 AlteredExpression disease LHGDN Polycystin-2 is regulated by endoplasmic reticulum-associated degradation. 18178578 2008