TTC21B-AS1, TTC21B antisense RNA 1, 100506134

N. diseases: 11; N. variants: 6
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.100 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.100 CausalMutation disease CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011