Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CHARGE SYNDROME	138 214800 C0265354 MESH:D058747 MONDO:0008965	CHD7	Causal	16615981 21532573 18978652 17334995 16400610 17661815 15300250 17937444 18074359 26590800 16118347 16155193 16169932 16763960 16960397 18073582 18445044 18472328 18484313 18505430 18834967 19021638 19159393 19248844 20052	CTD ClinGen ClinVar Disgenet GWAS catalog HPO Orphanet
		EP300	Causal	—	Disgenet
		KMT2D	Causal	—	Disgenet
		PUF60	Causal	—	Disgenet
		RERE	Causal	—	Disgenet
		SEMA3E	Causal	15235037	Disgenet GenCC Orphanet
		TNFRSF1A	Causal	—	Disgenet
		KDM6A	Unknown	—	Disgenet
		WDR11	Unknown	—	Disgenet
FAMILIAL CHARGE SYNDROMES	C2936502	CHD7	Unknown	—	Disgenet

Charge syndrome