Cerebrooculofacioskeletal syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME	C5399761	ERCC1	Unknown	—	Disgenet	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
		ERCC2	Unknown	—	Disgenet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
		ERCC5	Unknown	—	Disgenet	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
		ERCC6	Unknown	—	Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
CEREBROOCULOFACIOSKELETAL SYNDROME 1	214150 C0220722 MESH:C562434 MONDO:0008955	ERCC6	Causal	10739753	CTD, ClinVar, Disgenet, HPO	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC2	Unknown	—	Disgenet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
		PGBD3	Unknown	—	Disgenet	—
CEREBROOCULOFACIOSKELETAL SYNDROME 2	610756 C1853102 MESH:C565185 MONDO:0012553	ERCC2	Causal	11443545 11709541 7849702 9101292 7585650 9012405 15220921 8571952 9195225 9758621 7920640	CTD, ClinVar, Disgenet, HPO	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
CEREBROOCULOFACIOSKELETAL SYNDROME 3	616570 C1851443 MESH:C565035 MONDO:0014696	ERCC5	Causal	17466625 1748277 23370563 24700531 29096039 30221345 9096355	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
CEREBROOCULOFACIOSKELETAL SYNDROME 3	616570 C1851443 MESH:C565035 MONDO:0014696	BIVM-ERCC5	Unknown	—	Disgenet	Nucleotide excision repair
CEREBROOCULOFACIOSKELETAL SYNDROME 4	610758 C1853100 MESH:C565184 MONDO:0012554	ERCC1	Causal	23623389 17273966	CTD, ClinVar, Disgenet, HPO	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
COFS SYNDROME	1466 MONDO:0008926	ERCC1	Unknown	17273966	ClinVar, Orphanet	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
		ERCC2	Unknown	11443545	GWAS catalog, Orphanet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
		ERCC5	Unknown	24700531	CTD, Orphanet	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
		ERCC6	Unknown	20301516	Disgenet, Orphanet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more