Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: a systematic review and meta-analysis. 24486506

2014

dbSNP: rs13181
rs13181
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed. 18349268

2008

dbSNP: rs13181
rs13181
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.020 GeneticVariation BEFREE XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients. 24284041

2014

dbSNP: rs13181
rs13181
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.020 GeneticVariation BEFREE We hypothesized that XPD Lys751Gln polymorphism may play a role in causation of AML in children and, as shown in adults, may affect the outcome of childhood AML therapy. 16150943

2006

dbSNP: rs13181
rs13181
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.030 GeneticVariation BEFREE Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66). 15878910

2005

dbSNP: rs13181
rs13181
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.030 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.030 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.010 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps
0.010 GeneticVariation BEFREE In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperplastic polyps (n = 191), or both types of polyps (n = 119) versus polyp-free controls (n = 601), we investigated the role of polymorphisms in the DNA repair genes O(6)-methylguanine methyltransferase (MGMT; p.L84F and p.I143V), XPD (p.D312N and p.K751Q), and XPG (p.D1104H). 16284370

2005

dbSNP: rs13181
rs13181
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 GeneticVariation 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

dbSNP: rs13181
rs13181
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.020 GeneticVariation BEFREE Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis. 25962431

2015

dbSNP: rs13181
rs13181
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.020 GeneticVariation BEFREE Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polymorphisms and risk of non- Hodgkin lymphoma. 25422223

2014

dbSNP: rs13181
rs13181
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.010 GeneticVariation BEFREE The association of XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms with age-related cataract susceptibility observed in our meta-analyses supports the view that XRCC1 and XPD may play important roles in susceptibility to age-related cataract. 25873778

2015

dbSNP: rs13181
rs13181
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
0.020 GeneticVariation BEFREE Our meta-analysis suggested that the CC genotype of XPD Lys751Gln (A/C) SNP seemed to portend a decreased risk for ARC in Caucasian populations but not in Asian populations. 24906341

2014

dbSNP: rs13181
rs13181
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
0.020 GeneticVariation BEFREE The aim of this study was to find out a correlation, if any, between ARC and the single nucleotide polymorphisms (SNPs) in DNA repair genes XRCC1 (X-ray repair cross-complementary-1) [Arg194Trp (rs1799782)] and XPD (xerodermapigmentosa complementation group D) [Lys751Gln (rs13,181]. 28560653

2018

dbSNP: rs13181
rs13181
CUI: C0002170
Disease: Alopecia
Alopecia
0.010 GeneticVariation BEFREE Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV). 30914949

2019

dbSNP: rs13181
rs13181
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.010 GeneticVariation BEFREE This study was designed to examine whether ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population. 18616887

2008

dbSNP: rs13181
rs13181
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.010 GeneticVariation BEFREE Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66). 15878910

2005

dbSNP: rs13181
rs13181
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE This meta-analysis suggested that the XPD Asp312Asn but not Lys751Gln polymorphism may be more genetically susceptible to bladder cancer development. 19492231

2009

dbSNP: rs13181
rs13181
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE The current meta-analysis indicated that the Lys751Gln polymorphism in the XPD gene might be a risk factor for bladder cancer. 24535265

2014

dbSNP: rs13181
rs13181
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. 21426550

2011

dbSNP: rs13181
rs13181
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE We found the Lys751Gln was associated with increased bladder cancer risk only under the recessive model (OR = 1.14, 95% CI = 1.01-1.29). 24347488

2014

dbSNP: rs13181
rs13181
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE For ERCC2 Lys751Gln, individuals who carried the variant heterozygote Lys/Gln or homozygote Gln/Gln had a significantly increased bladder cancer risk, compared with the wild genotype Lys/Lys (OR=1.10, 95 % CI=1.03-1.18). 24504678

2014