Details of Disease

General Information of Disease (ID: DISLVC95)

Disease Name Macular degeneration, early-onset
Synonyms EOMD; macular degeneration, early-onset
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISLKKHD: Macular degeneration
DISLVC95: Macular degeneration, early-onset
Disease Identifiers
MONDO ID
MONDO_0014501
UMLS CUI
C4015286
OMIM ID
616118
MedGen ID
863723

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLN3 TTORF9W Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBN2 OT3KYJQL Limited Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Timing of cognitive decline in CLN3 disease.J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1.
2 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.