G2Cdb::Human Disease report
- Disease id
- D00000305
- Name
- Noonan syndrome
- Nervous system disease
- no
Genes (3)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00000036 | NF1 neurofibromin 1 |
Y | (8317503) | Insertion (I) | Y |
| G00000031 | HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog |
Y | (17054105) | Microinsertion (MI) | N |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (11704759) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (11992261) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12161469) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12325025) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (12529711) | 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 | (14974085) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15001945) | 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 | (15240615) | Deletion (D) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15240615) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15384080) | Microinsertion (MI) | 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 | (15539800) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15886577) | Unknown (?) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15889278) | 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 | (15929108) | Unknown (?) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16078230) | Duplication (Du) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16188759) | Unknown (?) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16498234) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16804314) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17020470) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17052965) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17184563) | Unknown (?) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (17339163) | Microinsertion (MI) | Y |