Details of Disease

General Information of Disease (ID: DISL9WIR)

Disease Name Cataract 43
Synonyms cataract 43; cataract type 43; early-onset non-syndromic cataract caused by mutation in UNC45B; CTRCT43; UNC45B early-onset non-syndromic cataract
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISL9WIR: Cataract 43
Disease Identifiers
MONDO ID
MONDO_0014565
UMLS CUI
C4225389
OMIM ID
616279
MedGen ID
901691

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
UNC45B OTYKQ9O5 Strong Autosomal dominant [1]
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References

1 The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Eur J Hum Genet. 2014 Nov;22(11):1290-7. doi: 10.1038/ejhg.2014.21. Epub 2014 Feb 19.