In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Congenital Sodium Diarrhea causative germline
mechanism: Loss of HAI-2 Protease Inhibition and Uncontrolled Prostasin Proteolysis
subtype: Syndromic CSD
scoped to subtype: Syndromic CSD
Congenital Tufting Enteropathy causative germline
mechanism: Loss of Functional EpCAM at the Epithelial Cell Surface
subtype: SPINT2 syndromic form
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.