rs751292948, ERCC6

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262 2015
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.800 CausalMutation CLINVAR