Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.400 Biomarker disease GENOMICS_ENGLAND Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.400 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.400 CausalMutation disease CLINVAR