EDK
Editome Disease Knowledgebase
Neurofibromatosis
| Disease name | Neurofibromatosis |
|---|---|
| Classfication | Genetic disease |
| Related Enzyme(s) | |
| EFO | - |
| DOID | 8712 |
| OMIM | |
| NCI | |
| Definition | Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. |
| Gene symbol | Species | Enzyme | Editing site(s) | Editing Type | PMID | RADAR | REDIportal | Description |
|---|---|---|---|---|---|---|---|---|
| NF1 | Human | NA | 1 | C-to-U | Inappropriately high levels of NF1 mRNA editing does play a role in NF1 tumorigenesis and that editing may result in the functional equivalent of biallelic inactivation of the NF1 tumor suppressor |