Details of Disease

General Information of Disease (ID: DISSMEV1)

Disease Name Age related macular degeneration 13
Synonyms
macular degeneration, age-related, 13; age related macular degeneration type 13; macular degeneration, age-related, type 13; macular degeneration, age-related, 13, susceptibility to; age-related macular degeneration caused by mutation in CFI; CFI age-related macular degeneration; ARMD13
Definition An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.
Disease Hierarchy
DISOO4PI: Age related macular degeneration, susceptibility to
DIS98MYE: Inherited disease susceptibility
DISSMEV1: Age related macular degeneration 13
Disease Identifiers
MONDO ID
MONDO_0014189
UMLS CUI
C3809523
OMIM ID
615439
MedGen ID
815853

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CFI TT6ATLX Limited Autosomal dominant [1]
CFI TT6ATLX Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFI OTQYYX0P Limited 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.
2 Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.J Clin Immunol. 2013 Nov;33(8):1293-301. doi: 10.1007/s10875-013-9944-8. Epub 2013 Oct 20.