Disease: De Sanctis-Cacchione syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252 2018
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. 28440418 2017
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
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 GeneticVariation disease CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705 2016
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421 2015
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 25356239 2014
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR A possible cranio-oro-facial phenotype in Cockayne syndrome. 23311583 2013
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350 2011
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 CausalMutation disease CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753 2008
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 11809892 2002
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation disease CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
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