EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Identification of a founder EPCAM deletion in Spanish Lynch syndrome families. 23530899 2014
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Epithelial cell adhesion molecule regulation is associated with the maintenance of the undifferentiated phenotype of human embryonic stem cells. 20064925 2010
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. 19098912 2009
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. 19177550 2009
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of EpCAM as the gene for congenital tufting enteropathy. 18572020 2008
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CLINGEN Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. 16951683 2006
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 Biomarker disease CTD_human
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		0.700 CausalMutation disease CLINVAR