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cataract 38
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.
Uniprot Description An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Disease Ontology Description A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110245
OMIM:614691
UMLS:C3553494
MONDO:0013859
High level summary of knowledge for a disease, including descriptions and datasource references.