Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 AlteredExpression disease BEFREE Mutations in 13 genes (NPHP1-NPHP11, AHI1, and CC2D2A) cause NPHP with ubiquitous expression of the corresponding proteins consistent with the multiorgan involvement of NPHP-related diseases. 21866095 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 Biomarker disease HPO