Details of Disease

General Information of Disease (ID: DIS6S2DU)

Disease Name Braddock-carey syndrome 2
Disease Hierarchy
DISYU5J6: Braddock-Carey syndrome
DIS6S2DU: Braddock-carey syndrome 2
Disease Identifiers
MONDO ID
MONDO_0859570
UMLS CUI
C5774189
OMIM ID
619981
MedGen ID
1823962

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
KIF15 OTJRJEXL Limited Unknown [1]
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References

1 Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy. Hum Mutat. 2017 May;38(5):507-510. doi: 10.1002/humu.23188. Epub 2017 Mar 10.