EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
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: 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: 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: 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: 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: rs1558438591
rs1558438591
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 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: rs376155665
rs376155665
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C2750471
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		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: rs863224453
rs863224453
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		A 0.700 GeneticVariation 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
dbSNP: rs1126497
rs1126497
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C4525302
Disease:
Stage III Gallbladder Cancer AJCC v8 		0.010 GeneticVariation BEFREE In GMDR analysis, ALCAM rs1157G>A, EpCAM rs1126497T>C emerged as best significant interaction model with GBC susceptibility and ALDH1A1 rs13959T>G with increased risk of grade 3-4 hematological toxicity. 26318430 2016
dbSNP: rs1126497
rs1126497
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C4525301
Disease:
Stage IIB Gallbladder Cancer AJCC v8 		0.010 GeneticVariation BEFREE In GMDR analysis, ALCAM rs1157G>A, EpCAM rs1126497T>C emerged as best significant interaction model with GBC susceptibility and ALDH1A1 rs13959T>G with increased risk of grade 3-4 hematological toxicity. 26318430 2016
dbSNP: rs1126497
rs1126497
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C4525305
Disease:
Stage IV Gallbladder Cancer AJCC v8 		0.010 GeneticVariation BEFREE In GMDR analysis, ALCAM rs1157G>A, EpCAM rs1126497T>C emerged as best significant interaction model with GBC susceptibility and ALDH1A1 rs13959T>G with increased risk of grade 3-4 hematological toxicity. 26318430 2016
dbSNP: rs1126497
rs1126497
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
CUI: C0235782
Disease:
Gallbladder Carcinoma 		0.010 GeneticVariation BEFREE In GMDR analysis, ALCAM rs1157G>A, EpCAM rs1126497T>C emerged as best significant interaction model with GBC susceptibility and ALDH1A1 rs13959T>G with increased risk of grade 3-4 hematological toxicity. 26318430 2016