Disease: Nephronophthisis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.710 CausalMutation CLINVAR Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116 2014
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.710 GeneticVariation BEFREE Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116 2014
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.710 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011