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
Angiosarcoma cooperating somatic
mechanism: Angiogenic Signaling Activation
scoped to subtype: Radiation-Associated Angiosarcoma
Congenital Heart Disease causative
scoped to subtype: CTD
Tetralogy of Fallot causative germline
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
lymphatic malformation 1 MONDO:0007919 AD Definitive
2022-12-19
no dismech entry
congenital heart defects, multiple types, 7 MONDO:0032913 AD Definitive
2023-03-08
no dismech entry

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