EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376155665
rs376155665
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. 28701297 2017
dbSNP: rs376155665
rs376155665
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
dbSNP: rs376155665
rs376155665
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293 2013
dbSNP: rs1558438591
rs1558438591
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878854485
rs878854485
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878854491
rs878854491
Entrez Id: 4072;693144
Gene Symbol: EPCAM;MIR559
EPCAM;MIR559
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878854496
rs878854496
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 GeneticVariation CLINVAR