| Disease ID | Source | Name | Description |
| 604498 | OMIM | Congenital amegakaryocytic thrombocytopenia (CAMT) | Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. The disease is caused by variants affecting the gene represented in this entry. |
| 601977 | OMIM | Thrombocythemia 2 (THCYT2) | A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. The disease is caused by variants affecting the gene represented in this entry. |
| 254450 | OMIM | Myelofibrosis (MYELOF) | A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. The disease is caused by variants affecting the gene represented in this entry. |