| Entry |
|
|---|
| Name |
|
|---|
| Type |
Gain of function
|
|---|
| Gene |
MAP2K1 mitogen-activated protein kinase kinase 1 [KO: K04368]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H01745 | Cardiofaciocutaneous syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Tartaglia M, Aoki Y, Gelb BD |
|---|
| Title |
The molecular genetics of RASopathies: An update on novel disease genes and new disorders. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Riller Q, Rieux-Laucat F |
|---|
| Title |
RASopathies: From germline mutations to somatic and multigenic diseases. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
