G2Cdb::Human Disease report
- Disease id
- D00000306
- Name
- Noonan syndrome with growth hormone resistance
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15985475) | Microinsertion (MI) | Y |