LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: Retinal Dystrophy, Early Onset Severe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		0.300 GermlineCausalMutation disease ORPHANET Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 23946133 2013