Details of Disease

General Information of Disease (ID: DISWDJTO)

Disease Name Lynch syndrome 8
Synonyms HNPCC8; colorectal cancer, hereditary nonpolyposis, type 8; EPCAM hereditary nonpolyposis colon cancer; hereditary nonpolyposis colon cancer caused by mutation in EPCAM
Definition Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.
Disease Hierarchy
DISPA49R: Hereditary nonpolyposis colon cancer
DISWDJTO: Lynch syndrome 8
Disease Identifiers
MONDO ID
MONDO_0013196
MESH ID
C567685
UMLS CUI
C2750471
OMIM ID
613244
MedGen ID
412966

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
EPCAM TTZ8WH4 Definitive Autosomal dominant [1]
EPCAM TTZ8WH4 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EPCAM OTHBZK5X Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.Mol Cell Proteomics. 2014 Feb;13(2):397-406. doi: 10.1074/mcp.M113.035600. Epub 2013 Dec 5.