Details of Disease | DrugMAP

General Information of Disease (ID: DIS56CEM)

Disease Name	Tumor predisposition syndrome 2
Disease Hierarchy	DISGXLG5: Hereditary neoplastic syndrome DIS56CEM: Tumor predisposition syndrome 2
Disease Identifiers	MONDO ID MONDO_0859267 UMLS CUI C5774186 OMIM ID 619975 MedGen ID 1823959

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
MBD4	OTWR9YXE	Strong	Autosomal recessive	[1]
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References

1	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors. Nat Commun. 2018 May 14;9(1):1866. doi: 10.1038/s41467-018-04322-5.