Previous symbols: M4S1, MIC18, TACSTD1. Aliases: Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, MOC-31, 323/A3, 17-1A, TACST-1, CO-17A, ESA, BerEp4, Ber-Ep4.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Congenital Tufting Enteropathy | causative germline |
mechanism: Loss of Functional EpCAM at the Epithelial Cell Surface
subtype: EPCAM form
|
| Lynch Syndrome | causative germline loss of function |
mechanism: EPCAM 3' Deletion Silencing MSH2
subtype: EPCAM Deletion
|
| Small Intestine Cancer | risk factor |
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Lynch syndrome MONDO:0005835 | AD | Definitive 2022-06-20 |
Lynch Syndrome
causative
|
| hereditary breast carcinoma MONDO:0016419 | AD | Refuted 2023-12-21 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.