Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 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: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 7264357 1981
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 Biomarker disease GENOMICS_ENGLAND A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 7264357 1981
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
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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 7063265 1982
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 7264357 1981
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.430 Biomarker disease GENOMICS_ENGLAND
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
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: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene. 18185538 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262 2015
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation disease UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017