Details of Disease | DrugMAP

General Information of Disease (ID: DIS84VIN)

Disease Name	Sessile serrated polyposis cancer syndrome
Synonyms	SSPCS; sessile serrated polyposis cancer syndrome; SSPCS; sessile serrated polyposis cancer syndrome
Disease Hierarchy	DISVLOYP: Hyperplastic polyposis syndrome DIS84VIN: Sessile serrated polyposis cancer syndrome
Disease Identifiers	MONDO ID MONDO_0014919 UMLS CUI C4310714 OMIM ID 617108 MedGen ID 934681

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
RNF43	TTD91BL	Limited	Biomarker	[1]
RNF43	TTD91BL	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RNF43	OT2R9YDP	Definitive	Autosomal dominant	[2]
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References

1	RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.Gut. 2017 Sep;66(9):1645-1656. doi: 10.1136/gutjnl-2016-311849. Epub 2016 Jun 21.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.