EPCAM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• GI tract tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Inherited MMR deficiency (Lynch syndrome)

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited polyposis and early onset colorectal cancer - germline testing

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• congenital diarrhea 5 with tufting enteropathy

  0.76

• Lynch syndrome 8

  0.74

• Intestinal epithelial dysplasia

  0.71

• gastric cancer

  0.60

• neoplasm

  0.53

• Ascites

  0.51

• Lynch syndrome

  0.51

• colon carcinoma

  0.42

• colorectal cancer

  0.42

• Inherited cancer-predisposing syndrome

  0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with EPCAM

Curated MONDO disease pages that list EPCAM among their top associated genes.

• gastric cancerRare
• malignant colon neoplasmRare