Details of Disease

General Information of Disease (ID: DIS5GEYM)

Disease Name Megalencephalic leukoencephalopathy with subcortical cysts 3
Disease Hierarchy
DISZGBT7: Leukoencephalopathy, megalencephalic
DIS5GEYM: Megalencephalic leukoencephalopathy with subcortical cysts 3
Disease Identifiers
MONDO ID
MONDO_0957533
UMLS CUI
C5830625
OMIM ID
620447
MedGen ID
1841261

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
GPRC5B OTF3S5E3 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

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.