Disease: Cockayne Syndrome, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation disease BEFREE CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 14661080 2004
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation disease UNIPROT CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 14661080 2004
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 AlteredExpression disease BEFREE Transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) defective in Cockayne syndrome A and B (CSA and CSB), is responsible for the preferential removal of DNA lesions from the transcribed strand of active genes, permitting rapid resumption of blocked transcription. 9312053 1997
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 Biomarker disease GENOMICS_ENGLAND The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. 7664335 1995
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 Biomarker disease GENOMICS_ENGLAND