Details of Disease

General Information of Disease (ID: DIS83XBL)

Disease Name Diamond-Blackfan anemia 20
Synonyms DBA20; DIAMOND-BLACKFAN ANEMIA 20
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS83XBL: Diamond-Blackfan anemia 20
Disease Identifiers
MONDO ID
MONDO_0032670
UMLS CUI
C5193022
OMIM ID
618313
MedGen ID
1674961

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
RPS15A OT0BUA12 Limited Autosomal dominant [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.