Leber congenital amaurosis 16; LCA16

Disease ID:538
Name:Leber congenital amaurosis 16; LCA16
Associated with:1 target
Synonyms
Amaurosis congenita of Leber | Leber congenital amaurosis
Database Links
Disease Ontology: DOID:14791
OMIM: 614186
Orphanet: ORPHA65

Targets

Kir7.1
References:  1

Ligands

No ligand related data available for Leber congenital amaurosis 16; LCA16

References

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1. Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am. J. Hum. Genet., 89 (1): 183-90. [PMID:21763485]