| Entry |
|
|---|
| Name |
|
|---|
| Type |
Gain of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H01885 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA |
|---|
| Title |
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Madsen RR, Vanhaesebroeck B, Semple RK |
|---|
| Title |
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
