Details of Disease

General Information of Disease (ID: DIS5KQER)

Disease Name Anterior segment dysgenesis 6
Synonyms anterior segment dysgenesis 6; anterior segment dysgenesis 6, multiple subtypes; ASGD6; anterior segment dysgenesis type 6
Disease Hierarchy
DISSND1E: CYP1B1-related glaucoma with or without anterior segment dysgenesis
DIS12OKO: Anterior segment dysgenesis
DIS5KQER: Anterior segment dysgenesis 6
Disease Identifiers
MONDO ID
MONDO_0015016
UMLS CUI
C4310623
OMIM ID
617315
MedGen ID
934590

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP1B1 DE9QHP6 Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP1B1 OTYXFLSD Strong Autosomal dominant [1]
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References

1 Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5.