Details of Disease

General Information of Disease (ID: DISCHKOU)

Disease Name Exudative vitreoretinopathy 5
Synonyms EVR5; exudative vitreoretinopathy 5; exudative vitreoretinopathy caused by mutation in TSPAN12; TSPAN12 exudative vitreoretinopathy; exudative vitreoretinopathy type 5
Definition Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.
Disease Hierarchy
DISZAT33: TSPAN12-related exudative vitreoretinopathy
DISCHKOU: Exudative vitreoretinopathy 5
Disease Identifiers
MONDO ID
MONDO_0013218
MESH ID
C567648
UMLS CUI
C2750079
OMIM ID
613310
MedGen ID
412872

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
TSPAN12 OTF9I3CX Strong Autosomal dominant [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.