Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 2932
Gene Symbol: GSK3B
GSK3B
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE CONCLUSIONS XPD induces VSMC cell cycle arrest, and the activation of GSK3β plays a crucial role in inhibitory effect of XPD on VSMC proliferation. 30146633

2018

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: 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: 5502
Gene Symbol: PPP1R1A
PPP1R1A
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Importantly, P53 inhibitor (1 μM bpV) further enhanced the effect of XPD silencing (vs. XPD silencing, P<0.05). 30409962

2018

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: 57008
Gene Symbol: RLFP1
RLFP1
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE Polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP) analyses was used to determine the genotypes of the XPCC1 (rs25487), XPD (rs13181) and ERCC1 (rs11615) genes. 26918371

2016

Entrez Id: 164045
Gene Symbol: HFM1
HFM1
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Dysfunctional XPD helicase protein from polymorphic diversity may contribute to increased risk of developing cancers. 26086338

2015

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: 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: 8682
Gene Symbol: PEA15
PEA15
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE Indeed, this mutation not only affects the interaction with the MAT1 CAK subunit, thereby decreasing the in vitro basal transcription activity of TFIIH itself and impeding the efficient recruitment of the transcription machinery on the promoter of an activated gene, but also impairs the DNA unwinding activity of XPD and the nucleotide excision repair activity of TFIIH. 23382212

2013

Entrez Id: 4331
Gene Symbol: MNAT1
MNAT1
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE Indeed, this mutation not only affects the interaction with the MAT1 CAK subunit, thereby decreasing the in vitro basal transcription activity of TFIIH itself and impeding the efficient recruitment of the transcription machinery on the promoter of an activated gene, but also impairs the DNA unwinding activity of XPD and the nucleotide excision repair activity of TFIIH. 23382212

2013

Entrez Id: 339487
Gene Symbol: ZBTB8OS
ZBTB8OS
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Taken together, our results identify the ARCH domain of XPD as a platform for the recruitment of CAK and as a potential molecular switch that might control TFIIH composition and play a key role in the conversion of TFIIH from a factor active in transcription to a factor involved in DNA repair. 23382212

2013

Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. 23267107

2013

Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation 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

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE Susceptibility of XPD and RAD51 genetic variants to carcinoma of urinary bladder in North Indian population. 21740187

2012

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: 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: 64210
Gene Symbol: MMS19
MMS19
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE However, the MMS19-XPD complex did not contain any other subunits of TFIIH. 20797633

2010

Entrez Id: 55016
Gene Symbol: MARCHF1
MARCHF1
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE From March 1, 2005 to December 31, 2008, the polymerase chain reaction-restriction fragment length polymorphism method was applied to evaluate genetic polymorphisms of the XRCC1 codon399 (Arg/Gln) and XPD codon751 (Lys/Gln) DNA repair genes in 108 patients with stage IIIB and IV NSCLCs treated with platinum-based chemotherapy in the Department of Chemotherapy of Jiangsu Cancer Hospital and Research Institute. 20104979

2009

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Peripheral blood samples from 146 prospectively enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD), X-ray cross-complementing-1 (XRCC 1), X-ray cross-complementing-3 (XRCC 3) and uridine diphosphate-glucuronosyltransferases-A1 (UGT1 A1). 17549067

2008

Entrez Id: 54577
Gene Symbol: UGT1A7
UGT1A7
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Peripheral blood samples from 146 prospectively enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD), X-ray cross-complementing-1 (XRCC 1), X-ray cross-complementing-3 (XRCC 3) and uridine diphosphate-glucuronosyltransferases-A1 (UGT1 A1). 17549067

2008

Entrez Id: 56886
Gene Symbol: UGGT1
UGGT1
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Peripheral blood samples from 146 prospectively enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD), X-ray cross-complementing-1 (XRCC 1), X-ray cross-complementing-3 (XRCC 3) and uridine diphosphate-glucuronosyltransferases-A1 (UGT1 A1). 17549067

2008

Entrez Id: 54600
Gene Symbol: UGT1A9
UGT1A9
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Peripheral blood samples from 146 prospectively enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD), X-ray cross-complementing-1 (XRCC 1), X-ray cross-complementing-3 (XRCC 3) and uridine diphosphate-glucuronosyltransferases-A1 (UGT1 A1). 17549067

2008

Entrez Id: 54576
Gene Symbol: UGT1A8
UGT1A8
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Peripheral blood samples from 146 prospectively enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD), X-ray cross-complementing-1 (XRCC 1), X-ray cross-complementing-3 (XRCC 3) and uridine diphosphate-glucuronosyltransferases-A1 (UGT1 A1). 17549067

2008