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
Auriculocondylar Syndrome causative
mechanism: Heterozygous GNAI3 Variants; Impaired GNAI3 GTP Binding; Increased Mutant GNAI3 Receptor Association
subtype: ARCND1
scoped to subtype: ARCND1
AIP-related pituitary adenoma predisposition no genetic record
mechanism: Defective GNAI2/GNAI3-mediated adenylate cyclase restraint
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
auriculocondylar syndrome MONDO:0000107 AD Moderate
2026-05-21

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