Details of Disease

General Information of Disease (ID: DIS6ZW20)

Disease Name Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
Disease Hierarchy
DIS5QTMU: Mosaic variegated aneuploidy syndrome
DIS6ZW20: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
Disease Identifiers
MONDO ID
MONDO_0859346
UMLS CUI
C5774284
OMIM ID
620189
MedGen ID
1824057

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
MAD1L1 TTNE9U7 Limited Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAD1L1 OTJCX8K9 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.