LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. 18000884 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. 12642313 2003
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A novel locus for Leber congenital amaurosis maps to chromosome 6q. 10631161 2000