Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME	1052 C4551972 MESH:C536987 MONDO:0000141	BUB1B	Causal	15475955	CTD Disgenet GWAS catalog Orphanet
		CEP57	Causal	21552266 24259107 28553959	CTD Disgenet GWAS catalog Orphanet
		BUB1	Unknown	23747338	Disgenet GWAS catalog Orphanet
		BUB3	Unknown	23747338	Disgenet GWAS catalog Orphanet
		TRIP13	Unknown	28553959	CTD Disgenet Orphanet
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1	257300 C1850343 MONDO:0009759	BUB1B	Causal	21190457 16411201 11169558 9916837 15475955	ClinGen ClinVar Disgenet GWAS catalog HPO
		CEP57	Causal	—	Disgenet
		MAD1L1	Causal	—	Disgenet
		BUB1B-PAK6	Unknown	—	Disgenet
		PAK6	Unknown	—	Disgenet
		SLF2	Unknown	—	Disgenet
		SMC5	Unknown	—	Disgenet
		TRIP13	Unknown	—	Disgenet
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2	614114 C3279843 MONDO:0013582	CEP57	Causal	21552266 12116237	ClinGen ClinVar Disgenet GWAS catalog HPO
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3	617598 C4539839 MONDO:0054736	TRIP13	Causal	28553959	ClinVar Disgenet HPO
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4	620153 C5774267 MONDO:0859329	CENATAC	Causal	—	ClinVar Disgenet GenCC HPO
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION	620189 C5774284 MONDO:0859346	MAD1L1	Causal	—	ClinVar Disgenet GenCC HPO

Mosaic variegated aneuploidy