Previous symbols: AML1, CBFA2. Aliases: PEBP2A2, AMLCR1.
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 |
|---|---|---|
| Acute Lymphoblastic Leukemia | somatic driver somatic |
mechanism: B-Lineage Developmental Program Disruption
scoped to subtype: ETV6-RUNX1
|
| Acute Megakaryoblastic Leukemia | biomarker somatic |
mechanism: Adult Adverse Genomic Landscape and Therapy Resistance
scoped to subtype: Adult AMKL
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality | somatic driver somatic | |
| Mixed Phenotype Acute Leukemia | somatic driver somatic |
mechanism: Failure of Lineage Commitment
|
| RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy | causative germline |
mechanism: RUNT Domain Dominant-Negative Activity; RUNX1 Haploinsufficiency
|
| Severe Congenital Neutropenia 1, Autosomal Dominant | somatic driver somatic |
mechanism: Clonal Evolution to Myelodysplasia and Acute Myeloid Leukaemia
|
| Systemic Mastocytosis | cooperating somatic |
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 |
|---|---|---|---|
| hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0011071 | AD | Definitive 2018-06-04 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.