Venous malformation
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital abnormality of vein | C2937220 | AKT1 | |
| KRIT1 | |||
| ELN | |||
| GNAQ | |||
| PIK3CA | |||
| TEK | |||
| GLMN | |||
| PDCD10 | |||
| CCM2 | |||
| Venous malformation | C0265950 | AKT1 | |
| KRIT1 | |||
| PIK3CA | |||
| TEK | |||
| GLMN | |||
| PDCD10 | |||
| CCM2 | |||
| VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL | C1838437 | TEK | 27519652, 8980225, 10369874, 19079259, 19888299 |