| Protein | Human gene | Tumor-associated abnormalities | Tumor type | Clinical correlates | References |
| E-cadherin | CDH1 | Loss of heterozygosity | Numerous | Malignant progression | [3] |
| Promoter methylation | Numerous | Malignant progression | [3] | ||
| Germline mutations | Gastric (DGC) Breast (ILC) | Hereditary diffuse gastric cancer (HDGC) syndrome | [51] | ||
| Somatic mutations | Gastric (DGC) Breast (ILC) Pancreatic | Highly invasive | [50] | ||
| Upregulated expression | Epithelial ovarian cancer | Tumorigenesis | [5] [6] | ||
| Overexpression | Breast (IBC) | Tumor emboli | [8] | ||
| Upregulated exon 11 splicing by promoter methylation and SFRS2 splicing factor upregulation | Bone narrow | Chronic lymphocytic leukemia | [65] [69] | ||
| No tumor-associated abnormalities | Lesion type | Clinical correlates | References | ||
| E-cadherin depletion for malformation of E-cadherin-catenins complexes of renal adherens junctions for mutated polycystin-1 | Accumulation of fluid-filled cysts and abnormalities in renal epithelial cell function | Autosomal dominant polycystic kidney disease (ADPKD) | [86] | ||
| conditional gene ablation in the mouse/human in keratinocytes | E-cadherin postnatal loss in keratinocytes leads to progressive loss epidermal differentiation | Hailey-Hailey disease. Benign familial form of pemphigus and acantholysis, basal keratinocytes Hyperproliferative and degenerative responses of epidermis | [78] [79] | ||
| Disruption of E-cadherin-mediated junctions by siRNA between airway epithelial | Th2 cell recruitment and promotion of Th2-type allergic inflammation | Respiratory allergy Th2-mediated | [139] | ||
| Thinning of suprapapillary epidermis and marked dermal angiogenesis by altered E-cadherin expression | chronic autoimmune and inflammatory skin disease | Psoriasis | [144] |