| Disease ID | Source | Name | Description |
| 615381 | OMIM | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) | An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. The disease is caused by variants affecting the gene represented in this entry. |
| 612591 | OMIM | Colorectal cancer 10 (CRCS10) | A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Disease susceptibility is associated with variants affecting the gene represented in this entry. |