Condition: Senior-Loken Syndrome 5
rs750962965 in
IQCB1 gene and
Senior-Loken Syndrome 5
PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
PMID 20881296 2011 IQCB1 mutations in patients with leber congenital amaurosis.
PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.