Details of Disease

General Information of Disease (ID: DISZGBZ8)

Disease Name Coffin-Siris syndrome 7
Synonyms CSS7; COFFIN-SIRIS syndrome 7
Definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.
Disease Hierarchy
DIS8L03H: Coffin-Siris syndrome
DISZGBZ8: Coffin-Siris syndrome 7
Disease Identifiers
MONDO ID
MONDO_0054831
UMLS CUI
C4747954
OMIM ID
618027
MedGen ID
1648281

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
DPF2 OTL0JH2C Strong Autosomal dominant [1]
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References

1 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8.