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 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 GeneticVariation disease CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421 2015
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 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 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 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 Biomarker disease GENOMICS_ENGLAND
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 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 CausalMutation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010