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Browse result for Rasopathy
※ introduction The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.
Reference
Wiki: Rasopathy
Reference
Wiki: Rasopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00198 | P01111 | 4893 | NRAS | GTPase NRas | Homo sapiens |
| PTMD00498 | P01116 | 3845 | KRAS | GTPase KRas [Cleaved into: GTPase KRas, N-terminally processed] | Homo sapiens |
| PTMD00305 | P04049 | 5894 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens |
| PTMD00541 | P15056 | 673 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens |
| PTMD00559 | P22681 | 867 | CBL | E3 ubiquitin-protein ligase CBL | Homo sapiens |
| PTMD00587 | P36507 | 5605 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Homo sapiens |
| PTMD00645 | Q02750 | 5604 | MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 | Homo sapiens |
| PTMD00660 | Q06124 | 5781 | PTPN11 | Tyrosine-protein phosphatase non-receptor type 11 | Homo sapiens |
| PTMD00663 | Q07889 | 6654 | SOS1 | Son of sevenless homolog 1 | Homo sapiens |
| PTMD01932 | Q9UQ13 | 8036 | SHOC2 | Leucine-rich repeat protein SHOC-2 | Homo sapiens |