Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1 		0.320 GeneticVariation disease BEFREE The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex. 26085086 2015
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 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: 1442
Gene Symbol: CSH1
CSH1 		0.020 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: 1443
Gene Symbol: CSH2
CSH2 		0.020 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: 2068
Gene Symbol: ERCC2
ERCC2 		0.430 GeneticVariation disease BEFREE This study reports two Japanese patients, COFS-05-135 and COFS-Chiba1, who died at ages of <1 year and exhibited typical COFS manifestations caused by XPD mutations p.[I619del];[R666W] and p.[G47R];[I619del], respectively. 25716912 2015
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: 2071
Gene Symbol: ERCC3
ERCC3 		0.010 GeneticVariation disease BEFREE We predict that future patients with COFS syndrome will be found to have mutations in the CSA or XPB genes, and we document successful use of DNA repair for prenatal diagnosis in triplet and singleton pregnancies at risk for COFS syndrome. 11443545 2001