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
Classic Hodgkin Lymphoma somatic driver somatic
mechanism: Mutation-Driven NF-kappaB Activation
Immunodeficiency 92 causative germline
mechanism: Absent c-Rel Protein; Biallelic Loss-of-Function REL Variants
Atopic Dermatitis untyped
GWAS
Multiple Sclerosis untyped
GWAS
Psoriasis untyped
GWAS
Rheumatoid Arthritis untyped
GWAS
mechanism: NF-κB Activation
Systemic Lupus Erythematosus untyped
GWAS
Ulcerative Colitis untyped
GWAS
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 92 MONDO:0030498 AR Moderate
2025-12-18

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