| Disease ID | Source | Name | Description |
| 138800 | OMIM | Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) | A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. The disease is caused by variants affecting the gene represented in this entry. |
| 601200 | OMIM | Pleuropulmonary blastoma (PPB) | A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor. The disease is caused by variants affecting the gene represented in this entry. |
| 180295 | OMIM | Rhabdomyosarcoma, embryonal, 2 (RMSE2) | A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. The disease is caused by variants affecting the gene represented in this entry. |
| 618272 | OMIM | Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) | A disease characterized by the association of congenital nephromegaly, bilateral Wilms tumor, somatic overgrowth, developmental delay, macrocephaly, and bilateral lung cysts. The disease is caused by variants affecting the gene represented in this entry. |