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
Cardiac, Facial, and Digital Anomalies with Developmental Delay untyped
Germline missense, WD40-repeat clustered; Postzygotic mosaic multisystem presentation
germline
mechanism: Heterozygous TRAF7 missense variant
Meningioma untyped
Recurrent non-NF2 driver mutation
mechanism: Non-NF2 Driver Mutation Subgroups
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
syndromic complex neurodevelopmental disorder MONDO:0800439 AD Definitive
2023-09-06
no dismech entry

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