Disease: Kidney Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.020 GeneticVariation BEFREE We identified a novel TTC21B mutation demonstrating that p.P209L is not the unique causative mutation of this nephropathy. 26940125 2017
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.020 GeneticVariation BEFREE Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages. 24876116 2014