Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME, MKB TYPE	MONDO:0010477	MED12	Causal	23395478 24715367 26338144 27500536 28369444 28794916	ClinVar GWAS catalog
BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE	MONDO:0011365	KAT6B	Causal	30569622 30353918 29226580 28758091 28426343 28232779 27696664 26370006 26334766 25424711 24458743 23436491 22077973 28696035 30921092 31302922 31326210 31871732 32391291 33136874 34096026 35707592 36453961 37646730 37658610 38178	ClinVar Disgenet
BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME PLUS	C5437588	FOXL2	Unknown	—	Disgenet
BLEPHAROPHIMOSIS SYNDROME OHDO TYPE	C0796094 MESH:C536232	MED12	Unknown	—	CTD Disgenet
BLEPHAROPHIMOSIS SYNDROME TYPE 1	C2931135 MESH:C536233	FOXL2	Unknown	16219626 20429427 21889601	CTD Disgenet
BLEPHAROPHIMOSIS SYNDROME TYPE 2	C2931136	FOXL2	Unknown	—	Disgenet

Blepharophimosis syndrome