Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.040 GeneticVariation disease BEFREE Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk. 18478337 2008
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.040 GeneticVariation disease BEFREE XPD codon 751 Lys/Gln and Gln/Gln genotypes, compared with Lys/Lys genotype, were both associated with a more than doubled risk for esophageal adenocarcinoma (OR=2.4; 95% CI=1.4-4.4; OR=2.7, 95% CI=1.3-5.9). 16571649 2006
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.040 GeneticVariation disease BEFREE Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased risk of esophageal adenocarcinoma and a protective factor for esophageal squamous cell carcinoma. 24234258 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 GeneticVariation disease BEFREE In stratified analyses, the variant A-allele of XPD Arg156Arg was associated with increased risk of adenocarcinoma of lung (AA/AC versus CC; adjusted OR=1.65; 95% CI=1.09-2.50) (P=0.02). 15896456 2005
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 GeneticVariation disease BEFREE ERCC2 rs50871 and ATM rs611646 showed significant association with EGFR wild-type lung adenocarcinoma in the discovery stage. 29173771 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 GeneticVariation disease BEFREE This study showed that the individuals with the combined ERCC2 751AC/CC genotypes were at an increased risk for lung adenocarcinoma compared with those carrying the AA genotype [adjusted odds ratios (OR) 1.64, 95% confidence interval (CI) 1.06-2.52]. 20003391 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.040 Biomarker disease BEFREE However, multifactor dimensionality reduction analysis showed that the genetic polymorphisms of the three-loci models of DNA repair genes (XPD-751/XRCC1-399/OGG1-326) are associated with lung ADC. 23700156 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE Carriers of the variant XPD 751Gln allele had an increased risk of low-risk adenomas (OR 1.40, 95% CI 1.03-1.89), while no association was found with risk of carcinomas. 16542436 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 Biomarker group BEFREE Analyses ignoring XPD showed no association between alcohol intake and adenoma prevalence; however, among carriers of the codon 751 Gln/Gln genotype, we found a significant positive association (OR, 2.5; 95% CI, 1.2-5.2 for ever drinkers; test of interaction P = 0.04). 17164360 2006
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 GeneticVariation disease BEFREE Overall, no relevant common findings emerge among the studies, except for some statistically significant associations between polymorphisms in the XRCC1 and XPD genes, mainly for colorectal adenoma risk. 17419091 2007
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 GeneticVariation disease BEFREE We used a case-control study design (157 carcinomas, 983 adenomas and 399 controls) to test the association between five polymorphisms in these DNA repair genes (XRCC1 Arg194Trp, Arg280His, Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln), and risk of colorectal adenomas and carcinomas in a Norwegian cohort. 16542436 2006
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 GeneticVariation disease BEFREE XRCC1, XRCC3, and XPD polymorphisms as modifiers of the effect of smoking and alcohol on colorectal adenoma risk. 17164360 2006
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps
0.010 GeneticVariation disease BEFREE Overall, a homozygous variant XPD-combined genotype was associated with an increased risk of adenomatous polyps [odds ratio (OR), 1.57; 95% confidence interval (95% CI), 1.04-2.38] and an XPGHH1104 genotype with a decreased risk of hyperplastic polyps (OR, 0.36; 95% CI, 0.13-0.98). 16284370 2005
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation disease BEFREE A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymphoma and ERCC2 (rs13181; P = 0.002) for diffuse large B-cell lymphoma. 23619945 2013
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation disease BEFREE Association of ERCC2 Gene Polymorphisms with Susceptibility to Diffuse Large B-Cell Lymphoma. 30279407 2018
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation disease BEFREE Excision repair cross-complementing group 2/Xeroderma pigmentousm complementation group D (ERCC2/XPD) genetic variations and susceptibility to diffuse large B cell lymphoma in Egypt. 24258710 2013
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation disease BEFREE However, the XPD 751 Gln allele was associated with a two-fold decreased risk of diffuse large B-cell lymphoma (OR 0.56, 95% CI 0.34-0.92, p=0.02), the major subtype of NHL. 19736055 2009
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation disease BEFREE These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis. 24325908 2014
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE We aimed to establish whether XRCC1, XRCC3, and XPD are associated with liver cancer in Pakistan and to examine the interaction of hepatitis B virus (HBV) or hepatitis C virus (HCV) with repaired genes in the occurrence of liver cancer. 23044807 2013
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.020 GeneticVariation disease BEFREE DNA repair gene XPD and XRCC1 polymorphisms and the risk of febrile neutropenia and mucositis in children with leukemia and lymphoma. 22047709 2012
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.020 GeneticVariation disease BEFREE To investigate the relationship between DNA repair and NHL we analysed polymorphisms in XPD (R156R, D312N, K751Q) using DNA collected in a UK population-based case-control study of lymphoma. 19736055 2009
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.010 Biomarker disease BEFREE Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations. 15824172 2005
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 GeneticVariation disease BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462 2016
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.040 GeneticVariation disease BEFREE Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polymorphisms and risk of non- Hodgkin lymphoma. 25422223 2014
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.040 GeneticVariation disease BEFREE Polymorphisms in the nucleotide excision repair gene ERCC2/XPD and risk of non-Hodgkin lymphoma. 19736055 2009