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
Blastic Plasmacytoid Dendritic Cell Neoplasm somatic driver somatic loss of function
mechanism: ZRSR2 Loss-of-Function Splicing Defect
Orofaciodigital Syndrome causative
mechanism: Minor Spliceosome Dysfunction and Ciliary Transcript Depletion
subtype: OFD 21
scoped to subtype: OFD 21

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