TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
Disease: Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.420 GeneticVariation group BEFREE We identified a novel TTC21B mutation demonstrating that p.P209L is not the unique causative mutation of this nephropathy. 26940125 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.420 GeneticVariation group 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
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.420 Biomarker group CTD_human TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.420 Biomarker group HPO