Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COCKAYNE SPECTRUM WITH OR WITHOUT CEREBROOCULOFACIOSKELETAL SYNDROME	MONDO:0100506	ERCC6	Causal	10196384 12419226 19894250 24874740 25249633 31558084 9150142 9443879	ClinGen, Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME	C0009207 MESH:D003057	ERCC4	Causal	—	Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		ERCC6	Causal	10739753 10767341 22466610 22466612 25440059 26972010 9443879	CTD, Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC8	Causal	22466610 22466612	CTD, Disgenet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
		NDUFAF2	Unknown	—	Disgenet	Thermogenesis Complex I biogenesis
COCKAYNE SYNDROME A	216400	ERCC8	Unknown	—	HPO	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME B	133540	ERCC6	Unknown	—	HPO	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
Cockayne syndrome type 1	90321 MONDO:0019569	ERCC8	Causal	25453614 14661080 7664335 15744458 9338586 21108394 20301516	ClinGen, ClinVar, GenCC, Orphanet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
		ERCC4	Unknown	23623389	Orphanet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		ERCC6	Unknown	20301516	Orphanet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME TYPE 2	90322 MONDO:0019570	ERCC6	Causal	20301516	ClinVar, GenCC, Orphanet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC1	Unknown	23623389	Disgenet, Orphanet	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
		ERCC8	Unknown	20301516	GWAS catalog, Orphanet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME TYPE 3	90324 C0751037	ERCC6	Unknown	20301516	Disgenet, Orphanet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME TYPE 3	90324 C0751037	ERCC8	Unknown	20301516	Disgenet, Orphanet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
COCKAYNE SYNDROME, TYPE I	C0751039	ERCC4	Unknown	—	Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		ERCC6	Unknown	—	Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC8	Unknown	—	Disgenet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
		NDUFAF2	Unknown	—	Disgenet	Thermogenesis Complex I biogenesis
COCKAYNE SYNDROME, TYPE II	C0751038	ERCC1	Unknown	—	Disgenet	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway +5 more
		ERCC6	Unknown	10196384 10739753 1339317 18446857 18628313 20456449 23599700 25251875 25376329 25463447 27186691 28440418 30113454 31558084 34833108 34946871 35668072 38094643 7264357 9443879	Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ERCC8	Unknown	14661080 15744458 7664335	Disgenet	Nucleotide excision repair Ubiquitin mediated proteolysis Formation of TC-NER Pre-Incision Complex +4 more
		PGBD3	Unknown	—	Disgenet	—

Cockayne syndrome

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