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
Tooth Agenesis causative germline
mechanism: Dental Mesenchyme Transcription Factor Deficiency
subtype: MSX1-related
scoped to subtype: MSX1-related
Tooth and Nail Syndrome causative germline
Wolf-Hirschhorn_Syndrome susceptibility
mechanism: Candidate MSX1-Dependent Odontogenesis Defect
Cleft Lip/Palate untyped
Risk Factor
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
tooth agenesis, selective, 1 MONDO:0007129 AD Definitive
2024-02-08
Tooth Agenesis causative
tooth and nail syndrome MONDO:0008582 AD Disputed
2023-10-19

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