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
Progressive Familial Intrahepatic Cholestasis causative germline
mechanism: Canalicular Bile Formation Defect; FXR Bile Acid Sensing and Transcriptional Failure
subtype: PFIC5
scoped to subtype: PFIC5
Intrahepatic Cholestasis of Pregnancy no genetic record
mechanism: Genetic and Hormonal Susceptibility of Hepatobiliary Transport
Primary Bile Acid Malabsorption no genetic record
mechanism: Loss of FXR-FGF19 Signalling from the Ileum
Mechanism modules · computed from kb/

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