Disease Term Disease ID Gene Symbol References
Mosaic variegated aneuploidy syndrome 1 C1850343 BUB1 23747338
BUB1B 18932004, 24981203, 15475955, 21190457, 16411201, 24344301
BUB3 23747338
TRIP13 28553959
CEP57 28553959, 21552266, 24259107
PAK6
BUB1B-PAK6
mosaic variegated aneuploidy C4733331 BUB1B
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 C4539839 TRIP13 28553959
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 C3279843 CEP57 21552266, 26743940, 30035751, 24259107, 14654843, 30010053, 30147898, 22508265, 17803911, 12116237, 23569207
Mosaic variegated aneuploidy syndrome 1052 TRIP13
BUB1B
CEP57
BUB1
BUB3