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
Acute Megakaryoblastic Leukemia somatic driver somatic
mechanism: CBFA2T3::GLIS2 Induces BMP Signaling and Progenitor Self-Renewal
animal model: mouse
scoped to subtype: CBFA2T3::GLIS2-Positive AMKL
Nephronophthisis causative
mechanism: Fibrogenic Transcriptional Derepression
subtype: GLIS2-related
scoped to subtype: GLIS2-related
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
nephronophthisis 7 MONDO:0012680 AR Moderate
2026-04-22

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