Disease: Cockayne Syndrome, Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 7264357 1981
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. 8382798 1993
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE The human CSB gene, mutated in Cockayne's syndrome group B (partially defective in both repair and transcription) was previously cloned by virtue of its ability to correct the moderate UV sensitivity of the CHO mutant UV61. 8811084 1996
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease CTD_human Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation disease CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease CTD_human Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 10739753 2000
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease CTD_human Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 10767341 2000
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease CLINVAR Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 11809892 2002
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease BEFREE DNA was extracted from blood samples and 15 common nonsynonymous SNPs in seven-nucleotide excision repair genes [XPC, RAD23B (hHR23B), CSB (ERCC6), XPD (ERCC2), CCNH, XPF (ERCC4), and XPG (ERCC5)] were genotyped. 16492920 2006
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for Cockayne syndrome type B, confirming the clinical diagnosis. 16900932 2006
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. 18446857 2008
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation disease CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753 2008
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE Complementation assays have defined Cockayne syndrome group A (CSA) and Cockayne syndrome group B (CSB), caused by mutations in ERCC8 and ERCC6. 19309286 2009
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease BEFREE Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. 20456449 2010
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease BEFREE Cells expressing UBD-less CSB (CSB(del)) have phenotypes similar to those of cells lacking CSB, but these can be suppressed by appending a heterologous UBD, so ubiquitin binding is essential for CSB function. 20541997 2010
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation disease CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350 2011