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
Hirschsprung Disease untyped
Germline Mutations
Mowat-Wilson syndrome untyped
Causal heterozygous loss-of-function variant
mechanism: 2q22 contiguous-gene deletion removing ZEB2; ZEB2 haploinsufficiency
subtype: Monosomy 2q22
diagnosis: ZEB2 molecular genetic testing
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
Mowat-Wilson syndrome MONDO:0009341 AD Definitive
2026-07-01

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