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Leber congenital amaurosis 11; LCA11

Disease ID:537
Name:Leber congenital amaurosis 11; LCA11
Associated with:1 target
Amaurosis congenita of Leber | Leber congenital amaurosis
Database Links
Disease Ontology: DOID:14791
OMIM: 613837
Orphanet: ORPHA65


inosine monophosphate dehydrogenase 1
References:  1
Mutations:  inosine monophosphate dehydrogenase 1 is associated with 2 mutation. Click here for details


No ligand related data available for Leber congenital amaurosis 11; LCA11


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1. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA et al.. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci, 47 (1): 34-42. [PMID:16384941]