Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
0.010 GeneticVariation disease BEFREE Recessive mutations in the human <i>IQCB1/NPHP5</i> gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). 30713422 2018