Previous symbols: HMGIC. Aliases: BABL, LIPO.
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.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Liposarcoma | cooperating somatic | |
| Silver-Russell Syndrome |
untyped
Rare causative gene
|
|
| Uterine Leiomyoma | untyped somatic gain of function |
mechanism: Driver Mutation-Initiated Clonal Transformation
subtype: HMGA2-rearranged
|
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 disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Silver-Russell syndrome 5 MONDO:0020795 | AD | Definitive 2025-06-20 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.