Gene: EPCAM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease BEFREE The CTE-associated loss of the cell junctional proteins EpCAM and claudin 7 was also prevented. 31628112 2019
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 GeneticVariation disease BEFREE Previous studies of CTE in mice expressing mutant EpCAM show neonatal lethality. 31433211 2019
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease GENOMICS_ENGLAND Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 27302973 2017
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 GeneticVariation disease BEFREE Mutations in the EpCAM gene were identified to cause CTE. 26684320 2016
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 CausalMutation disease CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease BEFREE Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE. 23462293 2013
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 CausalMutation disease CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293 2013
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		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
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 CausalMutation disease CLINVAR Tufting Enteropathy with EpCAM Mutations in Two Siblings. 20981223 2010
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 GeneticVariation disease UNIPROT Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 CausalMutation disease CLINVAR Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 GeneticVariation disease BEFREE Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease GENOMICS_ENGLAND Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 GermlineCausalMutation disease ORPHANET Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease CTD_human
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.990 Biomarker disease GENOMICS_ENGLAND