Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.020 Biomarker disease BEFREE Knockdown of CSA reduces pre-rRNA synthesis by RNA polymerase I. CSA associates with RNA polymerase I and the active fraction of the rDNA and stimulates re-initiation of rDNA transcription by recruiting the Cockayne syndrome proteins TFIIH and CSB. 24781187 2014
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.020 GeneticVariation disease BEFREE Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA and XPD increases resistance to cisplatin. 12208738 2002