Angelman syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Angelman Syndrome | C0162635 | GABRB3 | 15878204 |
| KCNQ3 | |||
| MECP2 | |||
| SLC6A1 | |||
| CDKL5 | 19241098 | ||
| UBE3A | 27174604, 9887341, 25212744, 24796722, 20034088, 14981718, 9288087, 29188609, 8988171, 24385930, 18500341, 8988172, 9808466, 15878204, 19213023, 11748306, 9585605, 26993267, 26255772 | ||
| SYNGAP1 | |||
| ASXL3 | |||
| SNHG14 | 11748306, 25212744, 9887341, 26993267, 14981718, 19213023, 24796722, 29188609, 20034088, 26255772 | ||
| Angelman syndrome due to a point mutation | 411511 | UBE3A | |
| Angelman syndrome due to imprinting defect in 15q11-q13 | 411515 | SNRPN | |
| UBE3A | |||
| ATP10A | |||
| Angelman syndrome due to paternal uniparental disomy of chromosome 15 | 98795 | UBE3A | |
| Angelman syndrome due to maternal 15q11q13 deletion | 98794 | UBE3A | |
| OCA2 |