LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: Blindness, Hysterical ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221473
Disease: Blindness, Hysterical
Blindness, Hysterical 		0.300 Biomarker phenotype CTD_human Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029 2007