Details of Disease

General Information of Disease (ID: DISSW8GN)

Disease Name Diamond-Blackfan anemia 17
Synonyms DBA17; Diamond-Blackfan anemia 17
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISSW8GN: Diamond-Blackfan anemia 17
Disease Identifiers
MONDO ID
MONDO_0044310
UMLS CUI
C4479428
OMIM ID
617409
MedGen ID
1373199

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
RPS27 OTFXKY7P Limited Autosomal dominant [1]
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References

1 Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25.