G2Cdb::Human Disease report
- Disease id
- D00000304
- Name
- Leopard syndrome
- 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 | (12058348) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12161596) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (14634749) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (14961557) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (14991917) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15389709) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15520399) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15690106) | Microinsertion (MI) | ? |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15886577) | Unknown (?) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16172598) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16679933) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16733669) | Microinsertion (MI) | Y |