Details of Disease | DrugMAP

General Information of Disease (ID: DISXPRED)

Disease Name	Mosaic variegated aneuploidy syndrome 3
Synonyms	MOSAIC variegated aneuploidy syndrome 3; MVA3
Disease Hierarchy	DIS5QTMU: Mosaic variegated aneuploidy syndrome DISXPRED: Mosaic variegated aneuploidy syndrome 3
Disease Identifiers	MONDO ID MONDO_0054736 UMLS CUI C4539839 OMIM ID 617598 MedGen ID 1616382

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
TRIP13	OTFM3TI9	Strong	Autosomal recessive	[1]
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References

1	Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29.