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
Embryonal Rhabdomyosarcoma somatic driver somatic unknown
mechanism: IGF2 Overexpression; Loss of Heterozygosity at 11p15
Beckwith-Wiedemann Syndrome untyped
Imprinted growth promoter overexpressed in IC1 GoM and pUPD11
mechanism: 11p15.5 Imprinting Dysregulation; IGF2 Overexpression
scoped to subtype: IC1 GoM
Silver-Russell Syndrome untyped
Rare causative gene and 11p15 imprinting target
mechanism: 11p15 Imprinting Dysregulation; Reduced Paternal IGF2 Expression
Wilms Tumor untyped
Epigenetic Alteration
mechanism: IGF2 Loss of Imprinting
3-M Syndrome no genetic record
mechanism: Reduced IGF2 Expression
WT1-Related Wilms Tumor Predisposition no genetic record
mechanism: Biallelic IGF2 Expression
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
Silver-Russell syndrome 3 MONDO:0014663 AD Definitive
2023-10-04
no dismech entry

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