Details of Disease | DrugMAP

General Information of Disease (ID: DIS6VUN8)

Disease Name	Mismatch repair cancer syndrome 4
Synonyms	mismatch repair cancer syndrome 4; MMRCS4
Disease Hierarchy	DISIXHJ2: Mismatch repair cancer syndrome DIS6VUN8: Mismatch repair cancer syndrome 4
Disease Identifiers	MONDO ID MONDO_0030843 MESH ID C536928 UMLS CUI C5436817 OMIM ID 619101 MedGen ID 1745382

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
PMS2	OTNLWTMI	Strong	Autosomal recessive	[1]
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References

1	Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4.