Aliases: CD110, TPOR, THPOR.
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 Megakaryoblastic Leukemia | cooperating somatic |
mechanism: HOX Rearrangement and MPL/JAK-STAT Cooperation
animal model: mouse
scoped to subtype: HOX-Rearranged AMKL
|
| Essential Thrombocythemia |
untyped
Somatic Activating Mutations
|
|
| Inherited Aplastic Anemia |
untyped
Thrombopoietin receptor, biallelic mutations cause congenital amegakaryocytic thrombocytopenia
germline
|
scoped to subtype: Congenital Amegakaryocytic Thrombocytopenia
|
| Myeloproliferative Neoplasm, Unclassifiable |
untyped
Somatic driver variants
|
|
| Primary Myelofibrosis |
untyped
Somatic Activating 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 |
|---|---|---|---|
| thrombocythemia 2 MONDO:0011173 | AD | Definitive 2020-07-22 |
no dismech entry |
| congenital amegakaryocytic thrombocytopenia 1 MONDO:0800452 | AR | Definitive 2020-07-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.