Aplasia cutis congenita
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Aplasia Cutis Congenita | C0282160, 1114 | RHOA | 31570889 |
| ATP6V1B2 | |||
| ATRX | |||
| COL7A1 | |||
| COL17A1 | |||
| COX7B | |||
| DSP | |||
| GLI3 | |||
| HSPA9 | |||
| RBPJ | |||
| ITGA6 | |||
| ITGB4 | 18348258, 31184804 | ||
| KRAS | |||
| LAMA3 | |||
| LAMB3 | |||
| LAMC2 | |||
| NOTCH1 | |||
| PLEC | 31184804 | ||
| TAF1 | |||
| TFAP2A | |||
| BMS1 | 23785305 | ||
| GJB6 | |||
| B9D1 | |||
| DLL4 | 26299364 | ||
| ARHGAP31 | |||
| DOCK6 | |||
| KCTD1 | |||
| EOGT | |||
| Aplasia cutis congenita of scalp | C1855698 | LETM1 | |
| MSX2 | |||
| NSD2 | |||
| NELFA | |||
| DLL4 | |||
| ALX4 | |||
| UBR1 | |||
| Aplasia cutis congenita over the scalp vertex | C1970112 | BMS1 | |
| DLL4 | |||
| MCTP2 | |||
| Aplasia cutis congenita over posterior parietal area | C1863495 | ARHGAP31 | |
| Congenital defect of skull and scalp | C2931779 | RBPJ | |
| NOTCH1 | |||
| DLL4 | |||
| ARHGAP31 | |||
| DOCK6 | |||
| EOGT |