Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 CausalMutation CLINVAR Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. 28701297

2017

Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 Biomarker CTD_human Microsatellite instability: an update. 25701956

2015

Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 CausalMutation CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293

2013

Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 GeneticVariation LHGDN Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. 19098912

2009

Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 GeneticVariation CLINVAR