In the knowledge base ยท 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
Ehlers-Danlos Syndrome untyped
Pathogenic Variants
scoped to subtype: Periodontal EDS
Periodontal Ehlers-Danlos Syndrome untyped germline gain of function
mechanism: C1S Gain-of-Function Variant
subtype: pEDS-2
scoped to subtype: pEDS-2

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