| Disease ID | Source | Name | Description |
| 616867 | OMIM | Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) | An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. The disease is caused by variants affecting the gene represented in this entry. |
| 614266 | OMIM | Barrett esophagus (BE) | A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. The gene represented in this entry may be involved in disease pathogenesis. |