LCA5 gene - CISMeF

Preferred Label : LCA5 gene;

LOINC status : ACTIVE;

CISMeF acronym : LCA5;

Origin ID

LP189387-6;

UMLS CUI

C1537529;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis 5 [OMIM Phenotype]
- Leberilin lca5 [OMIM gene]
LOINC code(s)
- LCA5 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing [LOINC code]
- LCA5 gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen [LOINC code]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Leberilin lca5 [OMIM gene]
- lebercilin LCA5 [HGNC gene]