Beckwith-wiedemann syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Beckwith-Wiedemann Syndrome | C0004903 | CDKN1C | 22634751, 10424811, 10424812, 26077438, 9341892, 20503313 |
| IGF2 | 9349812, 26154720, 8252039, 17325026 | ||
| KCNQ1 | |||
| KCNQ1OT1 | 12949703 | ||
| NSD1 | 27604501, 16222665, 12464997, 28475857, 14571271, 15942875, 15742365, 21196496, 21972110, 22924495, 24412544, 16247291, 16232326, 26690673, 12807965 | ||
| H19 | |||
| H19-ICR | |||
| Beckwith-Wiedemann syndrome due to CDKN1C mutation | 231120 | CDKN1C | |
| Beckwith-Wiedemann syndrome due to 11p15 microdeletion | 231127 | H19 | |
| Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | 231117 | H19 | |
| KCNQ1OT1 | |||
| IGF2 | |||
| Beckwith-Wiedemann syndrome due to NSD1 mutation | 238613 | NSD1 |