Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
0.050 GeneticVariation disease BEFREE The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UV<sup>S</sup>S), a disorder that causes mild symptoms. 29625109 2018
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
0.050 GeneticVariation disease BEFREE Three of the seven known UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively). 22466610 2012
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
0.050 Biomarker disease BEFREE We also show by microarray analysis that expression of the fusion protein alone in CSB-null UV-sensitive syndrome (UVSS) cells induces an interferon-like response that resembles both the innate antiviral response and the prolonged interferon response normally maintained by unphosphorylated STAT1 (U-STAT1); moreover, as might be expected based on conservation of the fusion protein, this potentially cytotoxic interferon-like response is largely reversed by coexpression of functional CSB protein. 22483866 2012
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
0.050 GeneticVariation disease BEFREE We report the identification of a UV(S)S patient (UV(S)S1VI) with a novel mutation in the CSA gene (p.trp361cys) that confers hypersensitivity to UV light, but not to inducers of oxidative damage that are notably cytotoxic in cells from CS patients. 19329487 2009
Entrez Id: 1442
Gene Symbol: CSH1
CSH1
0.050 Biomarker disease BEFREE On the other hand, no mutation in the CSB cDNA and a normal amount of CSB protein was detected in Kps3, a UVsS cell line obtained from an unrelated patient, indicating genetic heterogeneity in UVsS. 15486090 2004