EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854488
rs878854488
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		A 0.700 CausalMutation CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014