Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 Biomarker disease CTD_human Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. 26972010 2016
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 GeneticVariation disease BEFREE Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. 22466612 2012
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 GermlineCausalMutation disease ORPHANET 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.650 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982