EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease MGD The aim of this study was to determine the role of TROP1/EPCAM in CTE and to generate an animal model of this disease for molecular investigation and therapy development. 23209569 2012
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease BEFREE The CTE-associated loss of the cell junctional proteins EpCAM and claudin 7 was also prevented. 31628112 2019
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 CausalMutation disease CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease GENOMICS_ENGLAND Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. 21315192 2011
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 CausalMutation disease CLINVAR Tufting Enteropathy with EpCAM Mutations in Two Siblings. 20981223 2010
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease CTD_human
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease BEFREE Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. 21315192 2011
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease BEFREE Previous studies of CTE in mice expressing mutant EpCAM show neonatal lethality. 31433211 2019
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease UNIPROT Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease BEFREE Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE. 23462293 2013
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 CausalMutation disease CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293 2013
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease GENOMICS_ENGLAND
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 CausalMutation disease CLINVAR Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease BEFREE Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 AlteredExpression disease BEFREE We identified compound heterozygous mutations in EPCAM, with loss of EPCAM expression in duodenal enterocytes, in a patient with intractable diarrhea since infancy who was subsequently diagnosed with CTE. 27875355 2018
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 AlteredExpression disease BEFREE Mutant EpCAM protein is present at low levels and is mislocalized in the intestine of Epcam(Δ4/Δ4) mice and CTE patients. 24337010 2014
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease BEFREE Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. 24142340 2014
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease GENOMICS_ENGLAND Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GermlineCausalMutation disease ORPHANET Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 Biomarker disease GENOMICS_ENGLAND Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 27302973 2017
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.990 GeneticVariation disease BEFREE Mutations in the EpCAM gene were identified to cause CTE. 26684320 2016
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 GeneticVariation disease BEFREE We previously showed that constitutional 3' end deletions of EPCAM can cause Lynch syndrome through epigenetic silencing of MSH2 in EPCAM-expressing tissues, resulting in tissue-specific MSH2 deficiency. 21145788 2011
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 GeneticVariation disease BEFREE The ultimate diagnosis of Lynch syndrome requires documentation of mutation within one of the four MMR genes (MLH1, PMS2, MSH2 and MSH6) or EPCAM, currently achieved by comprehensive sequencing analysis of germline DNA. 26895074 2016
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 AlteredExpression disease BEFREE Germline deletion of the 3' portion of the Epithelial Cell Adhesion Molecule (EPCAM) gene located 5' upstream of MutS Homolog 2 (MSH2) is a novel mechanism for its inactivation in Lynch syndrome. 26613680 2016
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 GeneticVariation disease BEFREE Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. 19098912 2009