| Disease ID | Source | Name | Description |
| 609152 | OMIM | Hyperthyroidism, non-autoimmune (HTNA) | A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. The disease is caused by variants affecting the gene represented in this entry. |
| 275200 | OMIM | Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) | A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. The disease is caused by variants affecting the gene represented in this entry. |
| 603373 | OMIM | Familial gestational hyperthyroidism (HTFG) | A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy. The disease is caused by variants affecting the gene represented in this entry. |