Aliases: KIAA0978.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
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 Erythroid Leukemia | cooperating somatic | |
| Aggressive NK-cell Leukemia | unknown somaticunknown |
mechanism: Epigenetic-Regulator Alterations
|
| Blastic Plasmacytoid Dendritic Cell Neoplasm | somatic driver somatic |
mechanism: ASXL1 Truncating Mutation in a Hematopoietic Precursor
|
| Bohring-Opitz syndrome | causative de novo unknown |
mechanism: ASXL1 truncation disrupts epigenetic regulation of developmental gene expression; ASXL1 truncation dysregulates Wnt signaling and tissue patterning
diagnosis: ASXL1 molecular genetic testing
|
| Chronic Myelomonocytic Leukemia | somatic driver somatic | |
| Myelodysplastic Syndrome | somatic driver somatic | |
| Systemic Mastocytosis | cooperating somatic | |
| Juvenile Myelomonocytic Leukemia |
untyped
Cooperating somatic mutation
|
|
| Polycythemia Vera |
untyped
Somatic Co-mutation
|
|
| Primary Myelofibrosis |
untyped
Somatic Loss-of-Function Mutations
|
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 |
|---|---|---|---|
| Bohring-Opitz syndrome MONDO:0011510 | AD | Definitive 2021-07-30 |
Bohring-Opitz syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.