Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 AlteredExpression disease BEFREE The CS complementation group B (CSB) protein is engaged in transcription coupled and global nucleotide excision repair, base excision repair and general transcription. 18541289 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome. 21477668 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE No inter-coordination between the subnuclear localization of CSA and CSB was observed, implying that this aspect does not underlie the clinical features of CS. 30504782 2018
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE Mice deficient for Csa or Csb genetically mimic CS in man, and develop mild CS symptoms including reduced fat tissue, photoreceptor cell loss, and mild, but characteristic, nervous system pathology. 23591128 2013
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE Importantly, reprogramming of CS fibroblasts to neuron-like cells is defective unless an exogenous CSB gene is introduced. 25249633 2014
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 AlteredExpression disease BEFREE The CS complementation group B (CSB) protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription. 14639525 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. 28440418 2017
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 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 		0.900 GeneticVariation disease BEFREE The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two missense mutations (c.1595A>G, p.Asp532Gly and c.1607T>G, p.Leu536Trp) in the ERCC6 gene in an apparently compound heterozygote status, especially, p.Asp532Gly has never been reported. 25463447 2014
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 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 		0.900 Biomarker disease BEFREE It is known that the CSB protein coded by the CS group B gene plays a role in the repair of 8-hydroxyguanine (8-OH-Gua) in transcription-coupled and non-strand discriminating modes. 12665480 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE The CSB mutant alleles were tested for genetic complementation of UV-sensitive phenotypes in the human CS-B homologue of hamster UV61. 10564257 1999
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Homozygous missense variant in the ERCC6 gene (Excision Repair Cross-Complementation group 6) was found, compatible with CS complementation group B. 29649050 2018
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 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 		0.900 GeneticVariation disease BEFREE Cockayne syndrome (CS) is caused by mutations in CSA and CSB. 29225035 2017
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 AlteredExpression disease BEFREE The CS group B (CSB) protein belongs to the SNF2-family of DNA-dependent ATPases and is implicated in transcription elongation, transcription coupled repair, and base excision repair. 16128801 2005
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Mutations in the Cockayne syndrome B (CSB) gene result in the human form of Cockayne syndrome. 18656484 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Sequencing of the CSB -coding region in both cDNA and genomic DNA showed that these patients had identical alterations to those in a patient with the clinical features of the classical form of CS. 10767341 2000
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE CSB-deficient mice exhibit all of the CS repair characteristics: ultraviolet (UV) sensitivity, inactivation of transcription-coupled repair, unaffected global genome repair, and inability to resume RNA synthesis after UV exposure. 9150142 1997
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions. 31546172 2019
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-A and CS-B, which are caused by mutations in ERCC8 (CSA) and ERCC6 (CSB), respectively. 22466612 2012
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease BEFREE Transfection of the human CSB gene into UV61 restores the normal repair pattern (CPD removal in only the transcribed strand), demonstrating that the DNA repair defect in UV61 is homologous to that in Cockayne's syndrome (complementation group B) cells. 8811084 1996
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 AlteredExpression disease BEFREE Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies. 23311583 2013
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation disease BEFREE ERCC6 is involved in DNA repair and mutations in ERCC6 cause Cockayne syndrome (CS). 21072178 2010