Details of Disease

General Information of Disease (ID: DISBU6L6)

Disease Name Exudative vitreoretinopathy 6
Synonyms EVR6; ZNF408 exudative vitreoretinopathy; exudative vitreoretinopathy type 6; exudative vitreoretinopathy 6; exudative vitreoretinopathy caused by mutation in ZNF408
Definition Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.
Disease Hierarchy
DISWN0TG: Exudative vitreoretinopathy
DISBU6L6: Exudative vitreoretinopathy 6
Disease Identifiers
MONDO ID
MONDO_0014652
UMLS CUI
C4225316
OMIM ID
616468
MedGen ID
902559

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
ZNF408 OTWMFQPN Strong Autosomal dominant [1]
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References

1 Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. BMC Ophthalmol. 2016 Jun 17;16:90. doi: 10.1186/s12886-016-0236-y.