Details of Disease

General Information of Disease (ID: DIS84ATX)

Disease Name Diamond-Blackfan anemia 9
Synonyms
DBA9; Diamond-Blackfan Anemia type 9; Diamond-Blackfan Anaemia type 9; RPS10 Diamond-Blackfan anemia; RPS10 Diamond-Blackfan anaemia; Diamond-Blackfan anemia caused by mutation in RPS10; Diamond-Blackfan anaemia caused by mutation in RPS10; Diamond-Blackfan anemia 9
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS84ATX: Diamond-Blackfan anemia 9
Disease Identifiers
MONDO ID
MONDO_0013216
MESH ID
C567650
UMLS CUI
C2750081
OMIM ID
613308
MedGen ID
412874

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
RPS10 OTE3VSAH Strong 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.