Details of Disease

General Information of Disease (ID: DIS44GNP)

Disease Name Cataract 45
Synonyms early-onset non-syndromic cataract caused by mutation in SIPA1L3; SIPA1L3 early-onset non-syndromic cataract; CTRCT45; cataract type 45; cataract 45
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DIS44GNP: Cataract 45
Disease Identifiers
MONDO ID
MONDO_0014799
UMLS CUI
C4225182
OMIM ID
616851
MedGen ID
895198

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
SIPA1L3 OTNYFUM3 Limited Semidominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.