Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
22Q11.2 DELETION SYNDROME	567 MONDO:0018923	ARVCF	Unknown	—	Orphanet
		COMT	Unknown	23992923	Orphanet
		GP1BB	Unknown	—	Orphanet
		HIRA	Unknown	15177686	Orphanet
		JMJD1C	Unknown	26608785	HPO Orphanet
		RREB1	Unknown	26608785	ClinVar Orphanet
		SEC24C	Unknown	26608785	GWAS catalog Orphanet
		TBX1	Unknown	14585638	GWAS catalog Orphanet
		UFD1	Unknown	—	Orphanet
22Q11.2 DUPLICATION SYNDROME	1727	TBX1	Unknown	19254783	Orphanet

22q11.2 deletion syndrome