Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12
0.100 CausalMutation disease CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12
0.100 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014