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cataract 13 with adult I phenotype
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
Uniprot Description An opacification of the crystalline lens of the eye that 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. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.
Disease Ontology Description A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
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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:0110242
OMIM:116700
UMLS:C3805373
MONDO:0007289
High level summary of knowledge for a disease, including descriptions and datasource references.