Details of Disease

General Information of Disease (ID: DISEPU0Q)

Disease Name Coffin-Siris syndrome 6
Synonyms COFFIN-SIRIS syndrome 6; CSS6; ARID2-related BAFopathy; Coffin-Siris syndrome 6
Definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
Disease Hierarchy
DISQTWXD: BAFopathy
DISD6L06: Autosomal dominant non-syndromic intellectual disability
DISEPU0Q: Coffin-Siris syndrome 6
Disease Identifiers
MONDO ID
MONDO_0033492
UMLS CUI
C4540499
OMIM ID
617808
MedGen ID
1615540

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
ARID2 OTIRJXWM Strong Autosomal dominant [1]
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References

1 BAF200 is required for heart morphogenesis and coronary artery development. PLoS One. 2014 Oct 9;9(10):e109493. doi: 10.1371/journal.pone.0109493. eCollection 2014.