Details of Disease

General Information of Disease (ID: DIS0CKAH)

Disease Name Coffin-Siris syndrome 10
Synonyms COFFIN-SIRIS SYNDROME 10; CSS10
Disease Hierarchy
DIS8L03H: Coffin-Siris syndrome
DIS0CKAH: Coffin-Siris syndrome 10
Disease Identifiers
MONDO ID
MONDO_0032791
UMLS CUI
C4760583
OMIM ID
618506
MedGen ID
1683634

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
SOX4 OTSS40SS Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.