Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Medullary carcinoma | C0206693 | HPGD | 11352223 |
| RET | 7915165 | ||
| Medullary carcinoma of thyroid | C0238462 | KRAS | |
| NTRK1 | |||
| RET | 8570194, 9012462, 25157968, 11351254, 10445857, 21422803, 7915165, 15753368, 20943719, 15184865, 18073307, 10490816, 9839497, 17108110, 15277225, 23056499, 9242375 | ||
| FLCN | |||
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | C4012727 | CCND2 | |
| PIK3R2 | 21984976, 28425981, 22729224, 26520804, 23745724, 16357568, 28502725, 26860062 | ||
| AKT3 | 22729224, 22500628 | ||
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | C4014738 | AKT3 | 23745724, 22729223, 22729224, 24705253, 22500628 |