Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
COCKAYNE SPECTRUM WITH OR WITHOUT CEREBROOCULOFACIOSKELETAL SYNDROME	MONDO:0100506	ERCC6	Causal	10196384 12419226 19894250 24874740 25249633 31558084 9150142 9443879	ClinGen Disgenet
COCKAYNE SYNDROME	C0009207 MESH:D003057	ERCC4	Causal	—	Disgenet
		ERCC6	Causal	10739753 10767341 22466610 22466612 25440059 26972010 9443879	CTD Disgenet
		ERCC8	Causal	22466610 22466612	CTD Disgenet
		NDUFAF2	Unknown	—	Disgenet
COCKAYNE SYNDROME A	216400	ERCC8	Unknown	—	HPO
COCKAYNE SYNDROME B	133540	ERCC6	Unknown	—	HPO
COCKAYNE SYNDROME TYPE 1	90321 MONDO:0019569	ERCC8	Causal	20301516	ClinGen ClinVar GenCC Orphanet
		ERCC4	Unknown	23623389	Orphanet
		ERCC6	Unknown	20301516	Orphanet
COCKAYNE SYNDROME TYPE 2	90322 MONDO:0019570	ERCC6	Causal	20301516	ClinVar GenCC Orphanet
		ERCC1	Unknown	23623389	Disgenet Orphanet
		ERCC8	Unknown	20301516	GWAS catalog Orphanet
COCKAYNE SYNDROME TYPE 3	90324 C0751037	ERCC6	Unknown	20301516	Disgenet Orphanet
COCKAYNE SYNDROME TYPE 3	90324 C0751037	ERCC8	Unknown	20301516	Disgenet Orphanet
COCKAYNE SYNDROME, TYPE I	C0751039	ERCC4	Unknown	—	Disgenet
		ERCC6	Unknown	—	Disgenet
		ERCC8	Unknown	—	Disgenet
		NDUFAF2	Unknown	—	Disgenet
COCKAYNE SYNDROME, TYPE II	C0751038	ERCC1	Unknown	—	Disgenet
		ERCC6	Unknown	—	Disgenet
		ERCC8	Unknown	—	Disgenet
		PGBD3	Unknown	—	Disgenet

Cockayne syndrome