XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
0.010 GeneticVariation disease BEFREE Our study showed that the polymorphic status of XRCC1 194Arg/Trp might be a predictive marker of treatment response for advanced NSCLC patients and those of XPG His46His was associated with susceptibility of chemotherapy. 19157633 2009
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
0.010 GeneticVariation disease BEFREE Nine single nucleotide polymorphisms (SNPs) of XRCC1 (X-ray repair cross-complementing 1), CD3EAP (CD3e molecule, epsilon associated protein), PPP1R13L (protein phosphatase 1, regulatory subunit 13 like), XPB (Xeroderma pigmentosum group B), XPC (Xeroderma pigmentosum group C) and XPF (Xeroderma pigmentosum group F) were genotyped by the Snapshot and TaqMan-MGB® probe techniques, in a study involving 102 CBP patients and 204 controls. 26681190 2015
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B
0.010 GeneticVariation disease BEFREE Nine single nucleotide polymorphisms (SNPs) of XRCC1 (X-ray repair cross-complementing 1), CD3EAP (CD3e molecule, epsilon associated protein), PPP1R13L (protein phosphatase 1, regulatory subunit 13 like), XPB (Xeroderma pigmentosum group B), XPC (Xeroderma pigmentosum group C) and XPF (Xeroderma pigmentosum group F) were genotyped by the Snapshot and TaqMan-MGB® probe techniques, in a study involving 102 CBP patients and 204 controls. 26681190 2015
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.020 GeneticVariation disease BEFREE The xeroderma pigmentosum group A member 10 (XPD10) mutant adenine (A) allele (adjusted HR, 0.64; P = .04) and the x-ray cross-complementing group 1 (XRCC1) mutant guanine (G) allele (adjusted HR, 0.51; P = .02) also were independent predictors of OS. 22031394 2012
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
0.020 Biomarker disease BEFREE Among the DNA repair systems, the base excision repair (BER) and nucleotide excision repair (NER) systems are the major ones involved in repairing UV-induced DNA damage; X-ray repair cross complementary 1 (XRCC1) and human 8-oxoguanine DNA glycosylase 1 (hOGG1) are two BER genes, and xeroderma pigmentosum group A (XPA) and xeroderma pigmentosum group D (XPD) are two NER genes. 20431719 2010
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE For the single nucleotide polymorphisms in XRCC1 exon 10 (Arg399Gln, G/A) and XPD exon 23 (Lys751Gln, A/C), no remarkable differences for genotype distribution and allele frequencies were observed between BC group and control group in the study. 18415712 2008
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker disease BEFREE In the multivariate Cox model, XRCC3 241 remained an independent prognostic factor (hazard ratio: XRCC3 241 MetMet, 0.44; P = 0.01), and XPD 751 and XRCC1 399 also emerged as significant prognostic factors (hazard ratios: XPD 751 LysGln, 0.46, P = 0.03; XRCC1 399 ArgGln, 0.61, P = 0.04). 16407418 2006
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE The results indicated that XRCC1 codon 194 Trp allele and XPD codon 751 Lys allele may be contributing factors in the risk of NPC. 17630853 2007
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE Associations between lung cancer risk and common polymorphisms in the DNA repair genes xeroderma pigmentosum complementation group D (XPD), X-ray repair cross-complementing group 1 (XRCC1), XRCC3 and apurinic/apyrimidinic endonuclease/redox factor 1 were examined within a randomized clinical trial designed to determine whether alpha-tocopherol, beta-carotene, or both would reduce cancer incidence among male smokers in Finland. 12618330 2003
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 We assessed whether single nucleotide polymorphisms (SNPs) in xeroderma pigmentosum group D (XPD), X-ray repair cross complementing group 1 (XRCC1) and glutathione S-transferase P1 (GSTP1) predicted overall survival in gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population. 17593927 2007
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 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 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
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation disease BEFREE We studied the usefulness of the excision repair cross-complementing 1 (ERCC1), xeroderma pigmentosum group D (XPD), XRCC1 and GSTP1 polymorphisms as predictors of clinical outcome in these patients. 18797464 2008
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 Biomarker disease BEFREE Some evidence exists for the effects of X-ray cross complementation group 1 (XRCC1) codon 280 and (in smokers) Xeroderma pigmentosum group D (XPD) codon 23 polymorphisms on baseline CAs, for XRCC1 codon 399 polymorphism on SCEs in smokers, and for methylene tetrahydrofolate reductase (MTHFR) codon 677 and methionine synthase reductase (MTRR) polymorphisms on spontaneous MN. 15093278 2004
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 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 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 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 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 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