G2Cdb::Human Disease report
- Disease id
- D00000117
- Name
- Myelodysplastic syndrome
- Nervous system disease
- no
Genes (2)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00000036 | NF1 neurofibromin 1 |
Y | (1568247) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12717436) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12717436) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12717436) | Trinucleotide substitution (TriNS) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15009076) | Unknown (?) | N |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15282682) | No mutation found (N) | N |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15725481) | Unknown (?) | ? |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17339262) | Deletion (D) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17339262) | Translocation (T) | Y |