DisGeNET - a database of gene-disease associations

List of associated genes

Cerebrooculofacioskeletal Syndrome 1, C0220722

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Protein Class

Gene	Uniprot	Gene Full Name	Protein Class	pLI	DSI _v	DPI _v
ERCC2	P18074	ERCC excision repair 2, TFIIH core complex helicase subunit	Enzyme	7.1E-20	0.420	0.846
ERCC1	P07992	ERCC excision repair 1, endonuclease non-catalytic subunit	Enzyme	1.6E-07	0.445	0.846
ERCC6	P0DP91 Q03468	ERCC excision repair 6, chromatin remodeling factor		5.2E-22	0.507	0.808
ERCC3	P19447	ERCC excision repair 3, TFIIH core complex helicase subunit	Enzyme	3.4E-11	0.504	0.846
ERCC5	P28715	ERCC excision repair 5, endonuclease		2.7E-13	0.499	0.731
CSH1	P0DML2 P0DML3	chorionic somatomammotropin hormone 1	Signaling	2.1E-05	0.566	0.808
CSH2	P0DML2 P0DML3	chorionic somatomammotropin hormone 2	Signaling	1.3E-02	0.566	0.808