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
Immunodeficiency 57 causative germline loss of function
mechanism: RIPK1 Loss of Function
Alzheimer Disease no genetic record
mechanism: Necroptotic Neuronal Death
Stevens-Johnson Syndrome no genetic record
mechanism: Annexin A1-FPR1 Keratinocyte Necroptosis
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
immunodeficiency 57 MONDO:0020849 AR Definitive
2025-09-16

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