Details of Disease | DrugMAP

General Information of Disease (ID: DISSFPR0)

Disease Name	Cohen-Gibson syndrome
Synonyms	COGIS; Cohen-Gibson syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISSFPR0: Cohen-Gibson syndrome
Disease Identifiers	MONDO ID MONDO_0060510 UMLS CUI C4479654 OMIM ID 617561 MedGen ID 1386939

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EED	TTFNJ4R	Strong	Autosomal dominant	[1]
EED	TTFNJ4R	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EED	OTJFHCDF	Strong	Autosomal dominant	[1]
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References

1	A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19.
2	EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.