Details of Disease

General Information of Disease (ID: DISABS8P)

Disease Name Macular dystrophy, retinal, 4
Disease Hierarchy
DIS9K7AA: Macular dystrophy, retinal
DISABS8P: Macular dystrophy, retinal, 4
Disease Identifiers
MONDO ID
MONDO_0859568
UMLS CUI
C5774187
OMIM ID
619977
MedGen ID
1823960

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
CLEC3B OTFD29NF Strong Autosomal dominant [1]
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References

1 CLEC3B is a novel causative gene for macular-retinal dystrophy. Genet Med. 2022 Jun;24(6):1249-1260. doi: 10.1016/j.gim.2022.02.012. Epub 2022 Mar 22.