Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | GeneticVariation | disease | CLINVAR | Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. | 27186691 | 2017 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | |||||||
|
0.740 | Biomarker | disease | CTD_human | |||||||
|
0.430 | GermlineCausalMutation | disease | ORPHANET | Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. | 11443545 | 2001 | ||||
|
0.320 | GermlineCausalMutation | disease | ORPHANET | First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. | 17273966 | 2007 | ||||
|
0.320 | GermlineCausalMutation | disease | ORPHANET | ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene have previously been associated with xeroderma pigmentosum (group G), Cockayne syndrome and the more severe cerebrooculofacioskeletal syndrome. | 24700531 | 2014 | ||||
|
0.740 | GeneticVariation | disease | UNIPROT | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
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 |