rs1554098663, CEP120

N. diseases: 1
Disease: Ciliopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
0.010 GeneticVariation BEFREE Together, our findings reveal a novel role of CEP120 in ciliogenesis by showing that it interacts with C2CD3 and Talpid3 to assemble centriole appendages and by illuminating the molecular mechanism through which the CEP120 (I975S) mutation causes complex ciliopathies. 30988386 2019