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: rs267606785
rs267606785
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606785
rs267606785
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.800 GeneticVariation UNIPROT
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
dbSNP: rs606231203
rs606231203
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		T 0.700 CausalMutation CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293 2013
dbSNP: rs606231203
rs606231203
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		T 0.700 CausalMutation CLINVAR Tufting Enteropathy with EpCAM Mutations in Two Siblings. 20981223 2010
dbSNP: rs606231203
rs606231203
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		T 0.700 CausalMutation CLINVAR Identification of EpCAM as the gene for congenital tufting enteropathy. 18572020 2008
dbSNP: rs1553342984
rs1553342984
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs376155665
rs376155665
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397514661
rs397514661
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231203
rs606231203
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231204
rs606231204
Entrez Id: 4072;693144
Gene Symbol: EPCAM;MIR559
EPCAM;MIR559
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs606231281
rs606231281
Entrez Id: 4072;693144
Gene Symbol: EPCAM;MIR559
EPCAM;MIR559
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		G 0.700 CausalMutation CLINVAR
dbSNP: rs146044104
rs146044104
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.010 GeneticVariation BEFREE Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation (c.488A>G) recently found to be associated with syndromic CTE subjects. 26684320 2016