Details of Disease

General Information of Disease (ID: DISFBB1D)

Disease Name Coffin-Siris syndrome 11
Synonyms CSS11; COFFIN-SIRIS SYNDROME 11
Disease Hierarchy
DIS8L03H: Coffin-Siris syndrome
DISFBB1D: Coffin-Siris syndrome 11
Disease Identifiers
MONDO ID
MONDO_0032912
UMLS CUI
C5241442
OMIM ID
618779
MedGen ID
1717402

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
SMARCD1 OTHFFT6G Strong Autosomal dominant [1]
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References

1 A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.