Details of Disease

General Information of Disease (ID: DISRE1MK)

• Disease Name: Polyp of large intestine
• Synonyms: polyp of the large intestine; polyp of large bowel; large intestine polyp; colorectal polyp; large bowel polyp; polyp of the large bowel
• Definition: A polyp that involves the large intestine.
• Disease Hierarchy:
  DISKU8JE: Large intestine disorder
  DISRSLYF: Polyp
  DISRE1MK: Polyp of large intestine
• Disease Identifiers:
  MONDO ID: MONDO_0021392
  UMLS CUI: C0949059
  MedGen ID: 182694
  HPO ID: HP:0200063
  SNOMED CT ID: 399505005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MSH2	TTCAWRT	Limited	Genetic Variation	[1]
MUTYH	TTNB0ZK	Limited	Genetic Variation	[2]
RNF43	TTD91BL	Limited	Genetic Variation	[3]
SLC10A2	TTPI1M5	Limited	Genetic Variation	[4]
FBXO11	TT6G10V	Strong	CausalMutation	[5]
PTGIS	TTLXKZR	Strong	Genetic Variation	[6]
SETD7	TTJ0FSU	Strong	Altered Expression	[7]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC7A2	DTWY9RT	Strong	Genetic Variation	[8]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MSH6	OT46FP09	Limited	CausalMutation	[5]
POLD1	OTWO4UCJ	Limited	Genetic Variation	[9]
POLE	OTFM3MMU	Limited	Genetic Variation	[9]
NTHL1	OTPQXPT1	moderate	Genetic Variation	[10]
ACSS1	OT6C1WQD	Strong	Altered Expression	[11]
BMPR1A	OTQOA4ZH	Strong	Genetic Variation	[12]
FBLN1	OT5MHHOP	Strong	Altered Expression	[13]
STK31	OT3ZLRH0	Strong	Altered Expression	[13]

References

• [1] Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.J Med Genet. 1996 Sep;33(9):726-30. doi: 10.1136/jmg.33.9.726.
• [2] The role of inherited genetic variants in colorectal polyposis syndromes.Adv Genet. 2019;103:183-217. doi: 10.1016/bs.adgen.2018.11.002. Epub 2019 Jan 22.
• [3] Impact of loss-of-function mutations at the RNF43 locus on colorectal cancer development and progression.J Pathol. 2018 Aug;245(4):445-455. doi: 10.1002/path.5098. Epub 2018 Jun 20.
• [4] Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study.BMC Med Genet. 2008 Jul 21;9:70. doi: 10.1186/1471-2350-9-70.
• [5] A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.
• [6] Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps.Cancer Epidemiol Biomarkers Prev. 2006 Mar;15(3):502-8. doi: 10.1158/1055-9965.EPI-05-0804.
• [7] Histone-lysine N-methyltransferase SETD7 is a potential serum biomarker for colorectal cancer patients.EBioMedicine. 2018 Nov;37:134-143. doi: 10.1016/j.ebiom.2018.10.036. Epub 2018 Oct 22.
• [8] Genetic variation in SLC7A2 interacts with calcium and magnesium intakes in modulating the risk of colorectal polyps.J Nutr Biochem. 2017 Sep;47:35-40. doi: 10.1016/j.jnutbio.2017.04.016. Epub 2017 May 5.
• [9] Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.Mol Genet Genomic Med. 2019 Apr;7(4):e00603. doi: 10.1002/mgg3.603. Epub 2019 Mar 2.
• [10] Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine.Free Radic Biol Med. 2019 Feb 1;131:264-273. doi: 10.1016/j.freeradbiomed.2018.12.010. Epub 2018 Dec 12.
• [11] Downregulation of acetyl-CoA synthetase 2 is a metabolic hallmark of tumor progression and aggressiveness in colorectal carcinoma.Mod Pathol. 2017 Feb;30(2):267-277. doi: 10.1038/modpathol.2016.172. Epub 2016 Oct 7.
• [12] Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.Fam Cancer. 2018 Jan;17(1):87-90. doi: 10.1007/s10689-017-0012-z.
• [13] Serum FBLN1 and STK31 as biomarkers of colorectal cancer and their ability to noninvasively differentiate colorectal cancer from benign polyps.Clin Chim Acta. 2018 Aug;483:151-155. doi: 10.1016/j.cca.2018.04.038. Epub 2018 Apr 30.