Details of Disease

General Information of Disease (ID: DISDF9F9)

Disease Name Keratoconus 1
Synonyms KTCN1; keratoconus type 1; keratoconus 1; VSX1 keratoconus (disease); keratoconus (disease) caused by mutation in VSX1
Definition Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.
Disease Hierarchy
DISOONXH: Keratoconus
DISDF9F9: Keratoconus 1
Disease Identifiers
MONDO ID
MONDO_0007851
MESH ID
C563649
UMLS CUI
C1835677
OMIM ID
148300
MedGen ID
372103

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
VSX1 OTXAAYCI Limited Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.