Kabuki syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Kabuki make-up syndrome | C0796004 | KMT2A | 29255178 |
| RAP1A | 26280580 | ||
| RAP1B | 26280580 | ||
| KDM6A | 22197486 | ||
| KMT2D | 28884922, 21607748, 21658225, 25972376, 21280141, 26049589, 15690368, 26411453, 22126750, 27530281, 29255178, 25755104, 27302555, 20711175, 24633898, 23535010, 25142838, 23913813, 26938784, 19625956, 21671394, 23320472, 28295206, 9247308, 26512256, 26300940, 24739679, 29907798 | ||
| KABUKI SYNDROME 2 | C3275495 | KDM6A | 24664873, 29300383, 23535010, 23076834, 27302555, 22197486, 29907798, 25972376 |
| Kabuki syndrome | 2322 | KMT2D | |
| KDM6A |