Details of Disease | DrugMAP

General Information of Disease (ID: DISAQK3D)

Disease Name	Bone marrow failure syndrome 5
Synonyms	BMFS5; BONE MARROW FAILURE SYNDROME 5
Disease Hierarchy	DISVUY1J: Bone marrow failure syndrome DISAQK3D: Bone marrow failure syndrome 5
Disease Identifiers	MONDO ID MONDO_0032573 UMLS CUI C4748488 OMIM ID 618165 MedGen ID 1648380

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
TP53	TT7SBF5	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TP53	OTIE1VH3	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.