Atrioventricular septal defect
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Atrioventricular Septal Defect | C1389018 | NKX2-5 | |
| GATA1 | |||
| GATA4 | |||
| GATA6 | |||
| GDF1 | |||
| GJA1 | |||
| PTPN11 | |||
| SMARCA4 | |||
| TBX1 | |||
| TBX5 | |||
| TRIO | |||
| CDC45 | |||
| PUF60 | |||
| INTU | |||
| ANKRD11 | |||
| SMARCAL1 | |||
| WDPCP | |||
| HDAC8 | |||
| NKX2-6 | |||
| HYLS1 | |||
| ATRIOVENTRICULAR SEPTAL DEFECT 4 | C3280781 | GATA4 | 15235040, 12845333, 17643447 |
| ATRIOVENTRICULAR SEPTAL DEFECT 5 | C3280939 | GATA6 | 20581743, 20631719 |
| ATRIOVENTRICULAR SEPTAL DEFECT 3 | C3275750 | GJA1 | 11470490 |