Details of Disease | DrugMAP

General Information of Disease (ID: DISP91UZ)

Disease Name	Bone marrow failure and diabetes mellitus syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISP91UZ: Bone marrow failure and diabetes mellitus syndrome
Disease Identifiers	MONDO ID MONDO_0859288 UMLS CUI C5774218 OMIM ID 620044 MedGen ID 1823991

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
DUT	TTH6MBO	Strong	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
DUT	OT0THBVA	Strong	Autosomal recessive	[1]
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References

1	dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10.