Details of Disease

General Information of Disease (ID: DISN4ZQ8)

Disease Name Leber congenital amaurosis 19
Synonyms LCA19; LEBER CONGENITAL AMAUROSIS 19
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DISN4ZQ8: Leber congenital amaurosis 19
Disease Identifiers
MONDO ID
MONDO_0032794
UMLS CUI
C5193139
OMIM ID
618513
MedGen ID
1679297

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USP45 OT0KSON1 Limited Unknown [1]
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References

1 Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. J Med Genet. 2019 May;56(5):325-331. doi: 10.1136/jmedgenet-2018-105709. Epub 2018 Dec 20.