| Disease ID | Source | Name | Description |
| 135290 | OMIM | Desmoid disease, hereditary (DESMD) | An autosomal dominant disease characterized by multifocal fibromatosis of the abdominal wall and mesentery. Desmoid tumors can also affect paraspinal muscles, breast, occiput, arms, and lower ribs. The disease is caused by variants affecting the gene represented in this entry. |
| 175100 | OMIM | Familial adenomatous polyposis 1 (FAP1) | A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. The disease is caused by variants affecting the gene represented in this entry. |
| 613659 | OMIM | Gastric cancer (GASC) | A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. The gene represented in this entry may be involved in disease pathogenesis. |
| 114550 | OMIM | Hepatocellular carcinoma (HCC) | A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. The gene represented in this entry may be involved in disease pathogenesis. |
| 155255 | OMIM | Medulloblastoma (MDB) | Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. The gene represented in this entry may be involved in disease pathogenesis. |