| Disease ID | Source | Name | Description |
| 162210 | OMIM | Familial spinal neurofibromatosis (FSNF) | Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. The disease is caused by variants affecting the gene represented in this entry. |
| 607785 | OMIM | Leukemia, juvenile myelomonocytic (JMML) | An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. The disease is caused by variants affecting the gene represented in this entry. |
| 162200 | OMIM | Neurofibromatosis 1 (NF1) | A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. The disease is caused by variants affecting the gene represented in this entry. |
| 193520 | OMIM | Watson syndrome (WTSN) | A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. The disease is caused by variants affecting the gene represented in this entry. |
| 601321 | OMIM | Neurofibromatosis-Noonan syndrome (NFNS) | Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. The disease is caused by variants affecting the gene represented in this entry. |
| 114500 | OMIM | Colorectal cancer (CRC) | 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. The gene represented in this entry may be involved in disease pathogenesis. |