Details of Disease

General Information of Disease (ID: DISGGZ1K)

Disease Name Cerebrooculofacioskeletal syndrome 3
Synonyms cerebrooculofacioskeletal syndrome 3; COFS3; cerebrooculofacioskeletal syndrome type 3
Disease Hierarchy
DISTEABI: COFS syndrome
DISGGZ1K: Cerebrooculofacioskeletal syndrome 3
Disease Identifiers
MONDO ID
MONDO_0014696
MESH ID
C565035
UMLS CUI
C1851443
OMIM ID
616570
MedGen ID
342008

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
ERCC5 OTQAKFJM Strong Autosomal recessive [1]
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References

1 XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol Cell. 2007 Apr 27;26(2):231-43. doi: 10.1016/j.molcel.2007.03.013.