DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary nonpolyposis colorectal cancer type 8

Hereditary nonpolyposis colorectal cancer type 8 [DOID:0070270]

A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.

Synonyms:  hereditary nonpolyposis colorectal cancer type 8,  DOID:0070270,  familial nonpolyposis colorectal cancer type 8,  HNPCC8

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.