Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 GeneticVariation disease BEFREE A mutation in SDCCAG8 is also associated with Bardet-Biedl syndrome (BBS), characterized by NPHP, obesity, polydactyly, and rod-cone dystrophy. 31534065 2019
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 Biomarker disease HPO