Details of Disease

General Information of Disease (ID: DIS9UNRM)

Disease Name Macular degeneration, age-related, 3
Synonyms
ARMD3; neuropathy, hereditary, with or without age-related macular Degeneration; HNARMD; neuropathy, hereditary, with or without age-related macular degeneration; FBLN5 age-related macular degeneration; macular degeneration, age-related, 3; age-related macular degeneration caused by mutation in FBLN5; macular Degeneration, age-related, type 3
Definition Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.
Disease Hierarchy
DIS0XS2C: Age-related macular degeneration
DIS9UNRM: Macular degeneration, age-related, 3
Disease Identifiers
MONDO ID
MONDO_0012145
UMLS CUI
C1837187
OMIM ID
608895
MedGen ID
373276

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
FBLN5 OTLVNZ8U Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.