Details of Disease

General Information of Disease (ID: DISJSM4U)

Disease Name Age related macular degeneration 1
Synonyms
maculopathy, age-related, 1; macular degeneration, age-related, 1; macular degeneration, age-related; ARMD1; macular Degeneration, age-related, type 1; age related maculopathy 1; age related macular degeneration type 1; macular degeneration, age-related, reduced risk of
Definition An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
Disease Hierarchy
DIS0XS2C: Age-related macular degeneration
DISJSM4U: Age related macular degeneration 1
Disease Identifiers
MONDO ID
MONDO_0011285
MESH ID
C566411
UMLS CUI
C1864205
OMIM ID
603075
MedGen ID
400475

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFHR1 OT72R16T Limited Unknown [1]
HMCN1 OTLZAS0P Limited Autosomal dominant [2]
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References

1 Complement factor H related proteins (CFHRs). Mol Immunol. 2013 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3.
2 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.