Disease: Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in Cockayne syndrome (CS) A and B genes (CSA and CSB) result in a rare genetic disease that affects the development and homeostasis of a wide range of tissues and organs. 22032989 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Deficiency in TC-NER associates with mutations in the CSA and CSB genes giving rise to the rare human disorder Cockayne syndrome (CS). 21622031 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Mutations of the ERCC6 and ERCC8 genes are the predominant cause of the Cockayne syndrome, whereby the ERCC6 gene mutation makes up approximately 70% of the cases. 21477668 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. 21108394 2010
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE Expression of the p.trp361cys-mutated CSA cDNA increases the resistance of cells from a CS-A patient to oxidative stress, but does not correct their UV hypersensitivity. 19329487 2009
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Cockayne syndrome (CS) is mainly caused by mutations in the Cockayne syndrome group A or B (CSA or CSB) genes which are required for a sub-pathway of nucleotide excision repair entitled transcription coupled repair. 17084038 2007
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect caused by mutations in either of two genes, CSA and CSB. 17055654 2007
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. 16751180 2006
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease LHGDN Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. 16916636 2006
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease LHGDN CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. 16751180 2006
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS. 16246722 2005
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease LHGDN Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS. 16246722 2005
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE These findings not only uncover a clear difference in oxidative DNA damage sensitivity between CSA- and CSB-deficient cell lines and mice but also show that sensitivity to oxidative DNA damage is not a uniform characteristic of Cockayne syndrome. 15340056 2004
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE These data suggest that multiple splicing variant forms of CSA mRNA, in the absence of the full-length form of the mRNA, are associated with CS. 15211661 2004
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE The devastating genetic disorder Cockayne syndrome (CS) arises from mutations in the CSA and CSB genes. 14639525 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE The CSA and CSB genes responsible for CS are both components of complexes associated with RNA polymerase II and their role is thought to be in assisting polII in dealing with transcription blocks. 14726016 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease MGD UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. 12509261 2002
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB. 12483520 2002
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE The predicted structures for ALDP and CSA, proteins responsible for adrenoleukodystrophy and the Cockayne syndrome, respectively, were analyzed to elucidate the molecular basis of disease mutations. 11898854 2001
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 GeneticVariation disease BEFREE The abnormalities in CS are associated with mutations in the CSA or CSB genes. 10739753 2000
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE The two gene products of the CS complementation groups (CSA and CSB) have been implicated in the preferential repair of the transcribed strand of human genes. 9685618 1998
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.800 Biomarker disease BEFREE Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. 8596535 1996