G2Cdb::Human Disease report
- Disease id
- D00000301
- Name
- Spinal neurofibromatosis
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00000036 | NF1 neurofibromin 1 |
Y | (11704931) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11704931) | Splice site mutation (SpS) | Y |