| Disease ID | Source | Name | Description |
| 160565 | OMIM | Myopathy, tubular aggregate, 1 (TAM1) | A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. The disease is caused by variants affecting the gene represented in this entry. |
| 185070 | OMIM | Stormorken syndrome (STRMK) | A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The disease is caused by variants affecting the gene represented in this entry. |
| 612783 | OMIM | Immunodeficiency 10 (IMD10) | An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. The disease is caused by variants affecting the gene represented in this entry. |