Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The ratio of cooking oil mist exposure history and soot exposure history, and the gene frequencies of XRCC1 T-77C TC + CC, XRCC1 AG + GG, XRCC1 399Gln/Gln, and XPD 751Gln/Gln were higher in female patients with NSCLC than those with benign lung diseases or healthy controls. 30844146 2019
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Carriers of XRCC1 glutamine (Gln), XRCC3 threonine (Thr), hOGG1 cysteine (Cys), and XPD lysine (Lys) alleles were significantly more frequent among the cohort of schizophrenia patients than in controls. 26554302 2016
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE In this study, we explored the correlation between genetic polymorphisms in XPD and XRCC1 and the risk of non-small cell lung cancer (NSCLC) in the East Chinese Han population. 25308691 2016
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker disease BEFREE Roles of XRCC1/XPD/ERCC1 Polymorphisms in Predicting Prognosis of Hepatocellular Carcinoma in Patients Receiving Transcatheter Arterial Chemoembolization. 26918371 2016
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Haplotypes association showed that association of Gln allele of XRCC1 Arg399Gln polymorphism with the Asn allele of XPDAsp312Asn polymorphism (p = 0.004) or Gln allele of XRCC1 Arg399Gln polymorphism with the Gln allele of XPD Lys751Gln polymorphism (p = 0.003) was highly significantly associated with the development of ESRD. 25310768 2015
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The summary odds ratio (OR) and corresponding confidence interval (CI) for XPD Lys751Gln and XRCC1 Arg399Gln polymorphisms and risk of age-related cataract were estimated by random and fixed-effects models. 25285569 2015
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker disease BEFREE Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia." 25873778 2015
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg194Trp, XRCC3 Thr241Met, and XPD Lys751Gln polymorphisms and the risk of developing CML in Romanian patients. 24955348 2014
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Specifically, 2 polymorphisms-an arginine-to-glutamine substitution at codon 399 (Q399R) in XRCC1 and a lysine-to-glutamine substitution at codon 751 (K751Q) in XPD-were associated with increased toxicity to 5-FU/RT (P < .05), and an arginine-to-proline substitution at codon 72 (R72P) in TP53 was associated with increased toxicity to mFOLFOX-6 (P = .008). 23096768 2013
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The percent difference of mean relative expression between cases and controls demonstrated maximum lowering in OGG1 (47.3%) > XPD (30.7%) > XRCC1 (25.2%). 22081374 2012
Xeroderma Pigmentosum, Complementation Group D
0.100 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
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE It was found that combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with the two possible genotypes of XPD-Asp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD. 22302399 2012
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker disease BEFREE Both XPD (xeroderma pigmentosum group D) and XRCC1 (X-ray repair cross-complementing group 1) polymorphisms were characterized in 100 BC Egyptian females and 100 healthy women who had no history of any malignancy by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method and PCR with confronting two-pair primers (PCR-CTPP), using DNA from peripheral blood in a case control study. 21643959 2012
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker disease BEFREE Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. 22306120 2012
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE DPYD, TS, MTHFR, XPD and XRCC1 gene polymorphism rare allele frequencies were observed to be higher than in the general population. 22799365 2012
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE We postulate that defects in the DNA repair genes XRCC1 and XPD may possibly be associated with the progression of POAG in male patients of Pakistani origin. 21617750 2011
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Three single nucleotide polymorphisms (SNPs) of xeroderma pigmentosum group D (XPD) and X-ray repair cross complement 1 (XRCC1) genes were genotyped in gastric cancer and control subjects in a population from Southwestern China for their association with susceptibility of gastric cancer risk. 20863780 2011
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms. 22183071 2011
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Polymerase chain reaction and restriction fragment length polymorphisms were used to analyze XPD T751G and XRCC1 G399A in 180 patients with age-related cataract and 174 healthy individuals as controls. 21599457 2011
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleotide polymorphism [SNP], 3R G>C SNP), epidermal growth factor receptor (Arg497Lys), GSTP1 (Ile105val), excision repair cross-complementing 1 (Asn118Asn, 8092C>A, 19716G>C), X-ray repair cross-complementing group 1 (XRCC1) (Arg194Trp, Arg280His, Arg399Gln), and xeroderma pigmentosum group D (Lys751Gln). 21570215 2011
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Our results suggest a positive association of XRCC1 exon 9 and XPD exon 10 genotypes that may play an important role in the pathophysiology and may modulate the risk of PCa. 20070155 2010
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE To evaluate whether these gene polymorphisms may be associated with an increased risk for bladder cancer or in association with p53 mutation status in bladder tumors, we screened for polymorphisms at XPD codons 751 and XRCC1 codon 399 in DNA isolated from blood of 194 bladder cancer patients and 313 healthy controls and for mutations in exons 4 to 8 of the p53 gene in bladder tumor DNA from 174 bladder cancer patients. 20514470 2010
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to analyze XPD Asp312Asn and Lys751Gln and XRCC1 Arg194Trp and Arg399Gln in 120 patients with AMD (65 with dry type and 55 with wet type) and in age-matched 205 disease-free control subjects. 20375340 2010
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Polymerase chain reaction based analysis was used to resolve the XRCC1 codon 107, 194, 280, and 399; XPA A23G; XPA codon 228; and XPD codon 751 polymorphisms. 20431719 2010
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Polymorphisms at the xeroderma pigmentosum group D (XPD), excision repair cross-complementing group-1 (ERCC1) and X-ray repair cross complementing group 1 (XRCC1) genes were evaluated and correlated with clinical outcome. 19443413 2009