Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. 26972010 2016
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome. 25440059 2014
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. 22466612 2012
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 22466610 2012
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 10767341 2000
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 10739753 2000
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
0.300 Biomarker disease CTD_human Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998