Alagille syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Alagille Syndrome | C0085280 | JAG1 | 15712272, 9207788, 29530693, 9207787, 10220506, 26076142, 12442286, 23881058, 21532573 |
| NOTCH2 | |||
| Alagille Syndrome 1 | C1956125 | JAG1 | 9207787, 11058898, 22759690, 9585603, 22105858, 25676721, 11180599, 25525159, 20437614, 24748328, 21532573, 10220506, 15712272, 9207788, 26548814, 16575836, 11157803, 23881058, 22487239, 12497640, 26076142, 22488849, 10533065, 11139247, 12442286, 23801938 |
| NOTCH2 | |||
| Alagille Syndrome 2 | C1857761 | JAG1 | 9207788, 21532573, 9207787 |
| NOTCH2 | 21934706, 16773578, 22173065, 22105858, 22209762 | ||
| Alagille syndrome due to 20p12 microdeletion | 261600 | JAG1 | |
| Alagille syndrome due to a JAG1 point mutation | 261619 | JAG1 | |
| Alagille syndrome due to a NOTCH2 point mutation | 261629 | NOTCH2 |