Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
0.740 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421 2015
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease CLINVAR A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 25356239 2014
Cerebrooculofacioskeletal Syndrome 1
0.740 CausalMutation disease CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350 2011
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease BEFREE ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 20456449 2010
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
Cerebrooculofacioskeletal Syndrome 1
0.740 CausalMutation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
Cerebrooculofacioskeletal Syndrome 1
0.740 CausalMutation disease CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753 2008
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
0.740 GeneticVariation disease CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cerebrooculofacioskeletal Syndrome 1
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
Cerebrooculofacioskeletal Syndrome 1
0.740 Biomarker disease CTD_human
Cerebrooculofacioskeletal Syndrome 1
0.740 Biomarker disease GENOMICS_ENGLAND