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
Intrahepatic Cholestasis of Pregnancy susceptibility germline
mechanism: Genetic and Hormonal Susceptibility of Hepatobiliary Transport
Progressive Familial Intrahepatic Cholestasis causative germline
mechanism: Canalicular Bile Formation Defect; FIC1 Flippase Loss and Canalicular Membrane Destabilization
subtype: PFIC1
scoped to subtype: PFIC1
Mechanism modules · computed from kb/

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