Details of Disease

General Information of Disease (ID: DISCB1CW)

Disease Name Cataract 12 multiple types
Synonyms cataract 12, multiple types; CTRCT12
Definition A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
Disease Hierarchy
DISUD7SL: Cataract
DISCB1CW: Cataract 12 multiple types
Disease Identifiers
MONDO ID
MONDO_0012701
UMLS CUI
C3808115
OMIM ID
611597
MedGen ID
814445

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
BFSP2 OT3QREFR Definitive Autosomal dominant [1]
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References

1 A new locus for autosomal dominant congenital cataracts maps to chromosome 3. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9.