Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 196
Gene Symbol: AHR
AHR
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln). 15459223

2004

Entrez Id: 328
Gene Symbol: APEX1
APEX1
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk. 16195237

2006

Entrez Id: 328
Gene Symbol: APEX1
APEX1
Xeroderma Pigmentosum, Complementation Group D
0.040 Biomarker BEFREE To analyze the association of the polymorphisms in 8-oxoguanine glycosylase-1 (OGG1), X-ray repair cross-complementing-1 (XRCC1), and AP endonuclease-1 (APE1) genes in the base excision repair pathway and xeroderma pigmentosum complementation group D (XPD) in the nucleotide excision repair pathway with the risk of cataract in a Chinese population. 22306120

2012

Entrez Id: 328
Gene Symbol: APEX1
APEX1
Xeroderma Pigmentosum, Complementation Group D
0.040 AlteredExpression 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

Entrez Id: 328
Gene Symbol: APEX1
APEX1
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE In conclusion, our results reveal no association between XPD Lys751Gln, XRCC Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of PE in a Mexican mestizo population; however, the results in the APEX1 Asp148Glu polymorphism suggest the need for future studies using a larger sample size. 24619222

2014

Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE In a subset of 55 patients, the xeroderma pigmentosum group D (XPD)-751, x-ray cross-complementing group 3 (XRCC3) and cytidine deaminase polymorphisms were significantly associated with clinical outcomes. 19307510

2009

Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. 22052224

2011

Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine. 24841663

2014

Entrez Id: 472
Gene Symbol: ATM
ATM
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Interestingly, XPD transduction and treatment with statins and bisphosphonates known to accelerate the radiation-induced ATM nucleoshuttling led to significant complementation of these impairments.<b>Conclusions:</b> Our findings suggest that some subsets of XPD patients may be at risk of radiosensitivity reactions and treatment with statins and bisphosphonates may be an interesting approach of radioprotection countermeasure. 31738647

2020

Entrez Id: 573
Gene Symbol: BAG1
BAG1
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for BAG-1 (codon 324) and XPD (codons 312 and 751) genotyping. 26124006

2015

Entrez Id: 596
Gene Symbol: BCL2
BCL2
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE Expression of CyclinD1, Bcl-2, and C-sis increased significantly after XPD silencing, while the expression of P21, Mdm2, Mdm4, Bax, and P53 significantly decreased (vs. NC, P<0.05). 30409962

2018

Entrez Id: 613
Gene Symbol: BCR
BCR
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML. 24955348

2014

Entrez Id: 595
Gene Symbol: CCND1
CCND1
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE XPD overexpression suppressed the effects of PDGF-BB in promoting G1/S transition and accelerating protein expression levels of CDK4 and cyclin D1. 30146633

2018

Entrez Id: 978
Gene Symbol: CDA
CDA
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE The CDA Lys(27)Lys polymorphism significantly correlated with better clinical benefit (P = 0.04) and grade > or =3 neutropenia and thrombocytopenia, as well as with longer TTP and OS (P = 0.006 and P = 0.002, respectively), whereas no significant associations were found among ERCC1 and XPD polymorphisms and both response and clinical outcome. 18347182

2008

Entrez Id: 978
Gene Symbol: CDA
CDA
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. 22052224

2011

Entrez Id: 978
Gene Symbol: CDA
CDA
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polymorphisms of XPD (Asp312Asn and Lys751Gln) and CDA (Lys27Gln and Ala70Thr) in 93 NSCLC patients treated with a cisplatin-gemcitabine regimen. 24841663

2014

Entrez Id: 978
Gene Symbol: CDA
CDA
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE In a subset of 55 patients, the xeroderma pigmentosum group D (XPD)-751, x-ray cross-complementing group 3 (XRCC3) and cytidine deaminase polymorphisms were significantly associated with clinical outcomes. 19307510

2009

Entrez Id: 1019
Gene Symbol: CDK4
CDK4
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE XPD overexpression suppressed the effects of PDGF-BB in promoting G1/S transition and accelerating protein expression levels of CDK4 and cyclin D1. 30146633

2018

Entrez Id: 51647
Gene Symbol: CIAO2B
CIAO2B
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE These results indicate that the MMS19-XPD protein complex, now designated MMXD (MMS19-MIP18-XPD), is required for proper chromosome segregation, an abnormality of which could contribute to the pathogenesis in some cases of XP-D and XP-D/CS. 20797633

2010

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation 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

Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The ERCC1 rs13181 and XPD rs11615 polymorphisms were not predictive of clinical outcome for HCC patients receiving TACE (both p > 0.05). 26918371

2016

Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker BEFREE In the univariate analysis for PFS, ERCC1-118 and XPD 751 were significant (P=0.003 and P=0.009, respectively). 18797464

2008

Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker BEFREE Excision-repair cross-complementing 1 (ERCC1), xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) are essential to the repair of cisplatin DNA adducts. 15277258

2004

Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE The presence of two risk genotypes (ERCC1-118 T/T combined with either XPD-751 A/C or XPD-751 C/C) occurred in 50 patients (31%). 17401013

2007

Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker BEFREE The CDA Lys(27)Lys polymorphism significantly correlated with better clinical benefit (P = 0.04) and grade > or =3 neutropenia and thrombocytopenia, as well as with longer TTP and OS (P = 0.006 and P = 0.002, respectively), whereas no significant associations were found among ERCC1 and XPD polymorphisms and both response and clinical outcome. 18347182

2008