Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
KLEEFSTRA SYNDROME	C4551771 MESH:C563043 MONDO:0012455	EHMT1	Causal	22670141 23175442 24362066 25081361 27651234 27767173 28361100 28742076 29554304	CTD ClinGen Disgenet GWAS catalog
KLEEFSTRA SYNDROME	C4551771 MESH:C563043 MONDO:0012455	KMT2C	Unknown	—	Disgenet
KLEEFSTRA SYNDROME 1	C0795833 610253 MONDO:0027407	ABCC9	Causal	—	Disgenet
		EHMT1	Causal	—	ClinVar Disgenet GenCC HPO
		KMT2C	Causal	—	Disgenet
		NR1I3	Unknown	—	Disgenet
		PAEP	Unknown	—	Disgenet
KLEEFSTRA SYNDROME 2	617768 C4540395 MONDO:0054701	KMT2C	Causal	—	ClinVar Disgenet GenCC HPO
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION	96147	EHMT1	Unknown	20945554	Orphanet
KLEEFSTRA SYNDROME DUE TO A POINT MUTATION	261652 C5680724	KMT2C	Causal	29069077	Disgenet Orphanet
KLEEFSTRA SYNDROME DUE TO A POINT MUTATION	261652 C5680724	EHMT1	Unknown	20945554	Disgenet Orphanet

Kleefstra syndrome