×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
27186691
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.
26620705
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
CausalMutation
disease
CLINVAR
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
27004399
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
26218421
2015
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
25356239
2014
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
CausalMutation
disease
CLINVAR
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
21143350
2011
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
BEFREE
ERCC6 founder mutation identified in Finnish patients with COFS syndrome .
20456449
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
UNIPROT
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
CausalMutation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
CausalMutation
disease
CLINVAR
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
18784753
2008
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
BEFREE
New diagnostic criteria for COFS syndrome are proposed, based on our findings and on the few genetically proven COFS cases from the literature.
18628313
2008
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
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
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
BEFREE
Clinically observed similarities between COFS syndrome and CS have been followed by discoveries of cases of COFS syndrome that are associated with mutations in the XPG and CSB genes.
11443545
2001
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
BEFREE
The identical mutation was detected in the CSB gene from both children with COFS syndrome and in both parents of one of the patients.
10739753
2000
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
GeneticVariation
disease
CLINVAR
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
9443879
1998
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
Biomarker
disease
GENOMICS_ENGLAND
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
7264357
1981
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
Biomarker
disease
CTD_human
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.740
Biomarker
disease
GENOMICS_ENGLAND