G2Cdb::Human Disease report
- Disease id
- D00000299
- Name
- Neurofibromatosis-Noonan syndrome
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00000036 | NF1 neurofibromin 1 |
Y | (12707950) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12707950) | Insertion (I) | Y |