Disease: NEPHRONOPHTHISIS 12 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEPHRONOPHTHISIS 12
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
0.800 CausalMutation CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
NEPHRONOPHTHISIS 12
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
0.800 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
NEPHRONOPHTHISIS 12
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
0.800 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011