Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 Biomarker disease BEFREE We conclude that the CSB-PGBD3 fusion protein substantially reshapes the transcriptome in CS patient CS1AN and that continued expression of the CSB-PGBD3 fusion protein in the absence of functional CSB may affect the clinical presentation of CS patients by directly altering the transcriptional program. 23028371 2012
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 GeneticVariation disease BEFREE Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. 23202958 2012
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		0.010 Biomarker disease BEFREE We conclude that the CSB-PGBD3 fusion protein substantially reshapes the transcriptome in CS patient CS1AN and that continued expression of the CSB-PGBD3 fusion protein in the absence of functional CSB may affect the clinical presentation of CS patients by directly altering the transcriptional program. 23028371 2012
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 GeneticVariation disease BEFREE These hypothesis-generating findings suggest that functional variants in ERCC6 may be associated with an increased risk of NMSC that may be specific to BCC. 22336945 2012
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 GeneticVariation phenotype BEFREE These hypothesis-generating findings suggest that functional variants in ERCC6 may be associated with an increased risk of NMSC that may be specific to BCC. 22336945 2012
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 GeneticVariation disease BEFREE These hypothesis-generating findings suggest that functional variants in ERCC6 may be associated with an increased risk of NMSC that may be specific to BCC. 22336945 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 Biomarker disease BEFREE To test the role of CSB in vivo, we measured intergenerational and somatic expansion of CAG tracts in HD mice lacking CSB, OGG1, or both. 21566259 2011
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 AlteredExpression group BEFREE The effects of UV irradiation on herpes simplex virus type 1 (HSV-1) gene expression and DNA replication were examined in cell lines containing mutations inactivating the XPA gene product required for nucleotide-excision repair, the DNA polymerase eta responsible for translesion synthesis, or the Cockayne syndrome A and B (CSA and CSB) gene products required for transcription-coupled nucleotide excision repair. 20215648 2010
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.010 GeneticVariation disease BEFREE Pro-carriers of ERCC6 Arg1230Pro showed a decreased risk for laryngeal cancer (OR = 0.53, 95% CI 0.34-0.85), strongest in heavy smokers and high alcohol consumers. 19444904 2009
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.010 GeneticVariation disease BEFREE Pro-carriers of ERCC6 Arg1230Pro showed a decreased risk for laryngeal cancer (OR = 0.53, 95% CI 0.34-0.85), strongest in heavy smokers and high alcohol consumers. 19444904 2009
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		0.010 GeneticVariation group LHGDN A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients. 17933579 2008
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 Biomarker group BEFREE As for ERCC6 codon 1097 or 1413, there was no difference in distribution between the oral cancer and control groups. 17933579 2008
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 Biomarker disease BEFREE As for ERCC6 codon 1097 or 1413, there was no difference in distribution between the oral cancer and control groups. 17933579 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE However, the Cockayne syndrome caused by the ERCC6 defect has not been linked to cancer predisposition; likely due to the fact that cells with severe disruption of the ERCC6 function are sensitive to lesion-induced apoptosis, thus reducing the chance of tumorigenesis. 17854076 2008
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE To refine the delineation of the syndrome on genetically proven COFS cases. 18628313 2008
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 GeneticVariation disease BEFREE ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.010 GeneticVariation disease BEFREE Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS. 14726016 2003
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 AlteredExpression disease BEFREE The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. 12095617 2002
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 Biomarker disease BEFREE Reduced expression of ERCC1, XPB/ERCC3, XPG/ERCC5, and CSB/ERCC6 is associated with a more than two-fold increased risk of SCCHN. 11900225 2002
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 Biomarker disease BEFREE In contrast to the human syndrome, CSB-deficient mice show increased susceptibility to skin cancer. 9150142 1997
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Mutations in the CSA and CSB genes are causative of Cockayne syndrome neurological disorder. 31546172 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 GeneticVariation group BEFREE In the screening cohort, 6 candidate SNPs were associated with the tendency to develop MDS: rs4135113 (TDG, p = 0.03), rs12917 (MGMT, p = 0.003), rs2230641 (CCNH, p = 0.01), rs2228529 and rs2228526 (ERCC6, p = 0.04 and p = 0.03), and rs1799977 (MLH1, p = 0.04). 30861523 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 Biomarker group BEFREE We evaluated a possible role of DNA repair pathways using gene expression of single-strand break (XPA, XPC, XPG/ERCC5, CSA/ERCC8, and CSB/ERCC6) and double-strand break (ATM, BRCA1, BRCA2, RAD51, XRCC5, XRCC6, LIG4) in 92 patients with myelodysplastic syndrome (73 de novo, 9 therapy-related (t-MDS). 31667665 2019
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		0.020 GeneticVariation disease BEFREE Our results demonstrated pairwise epistatic interactions between ERCC6 and ERCC8 SNPs that ERCC6 rs1917799-ERCC8 rs158572 combination was associated with decreased risk of chronic atrophic gastritis and increased risk of gastric cancer. 28562347 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 AlteredExpression disease BEFREE Elevated Expression of ERCC6 Confers Resistance to 5-Fluorouracil and Is Associated with Poor Patient Survival in Colorectal Cancer. 28665687 2017