TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 Biomarker disease BEFREE The TTC21B gene is now known as causative of nephronophthisis-related ciliopathies (NPHP-RC). 28124483 2018
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 GeneticVariation disease BEFREE We studied the causative role of the TTC21B gene in 17 patients with primary diagnosis of FSGS or NPHP and its modifying role in 184 patients with inherited glomerular or cystic kidney diseases. 26940125 2017
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 GeneticVariation disease CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 CausalMutation disease CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.420 Biomarker disease HPO