G2Cdb::Human Disease report
- Disease id
- D00000099
- Name
- Juvenile myelomonocytic leukaemia
- Nervous system disease
- no
Genes (2)
Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
---|---|---|---|---|---|
G00000036 | NF1 neurofibromin 1 |
Y | (9639526) | Unknown (?) | Y |
G00000036 | NF1 neurofibromin 1 |
Y | (17353900) | Single nucleotide polymorphism (SNP) | 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 | (14644997) | Microinsertion (MI) | Y |
G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15085150) | Single nucleotide polymorphism (SNP) | Y |
G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15211660) | Deletion (D) | Y |
G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15539800) | Microinsertion (MI) | Y |
G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15928039) | Microinsertion (MI) | Y |
G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16188759) | Unknown (?) | Y |