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 MHC Class I Loss
Hypercatabolic Hypoproteinemia causative
Primary Central Nervous System Lymphoma causative somatic
Hodgkin Lymphoma untyped
Somatic Mutation
somatic
mechanism: Mutation-Driven MHC Class I Loss (Classic HL)
subtype: Classic HL
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
hypoproteinemia, hypercatabolic MONDO:0009434 AR Limited
2024-04-18
amyloidosis, hereditary systemic 6 MONDO:0971010 AD Limited
2026-05-06
no dismech entry

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