Details of Disease

General Information of Disease (ID: DISDV9RK)

Disease Name Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
Disease Hierarchy
DISZGBT7: Leukoencephalopathy, megalencephalic
DISDV9RK: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
Disease Identifiers
MONDO ID
MONDO_0957534
UMLS CUI
C5830628
OMIM ID
620448
MedGen ID
1841264

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
AQP4 OTA9MYD5 Limited Autosomal recessive [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.