Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
0.010 Biomarker disease 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: 2944
Gene Symbol: GSTM1
GSTM1
0.020 GeneticVariation disease BEFREE Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis. 30883948 2019
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1
0.020 GeneticVariation disease BEFREE Individuals with XPD 312Asp/Asn or Asn/Asn plus GSTT1 null genotype were under 2.00 (95% CI: 1.06-3.79), and XPD 312Asn/Gln haplotype was under 1.44-fold (95% CI: 0.99-2.08) increased risks to CM than others. 30883948 2019
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
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
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.040 AlteredExpression disease BEFREE The experiments were randomly divided into a control group, a liposome control group, a negative control (NC) group, an XPD siRNA group, and an XPD siRNA + P53 inhibitor group. 30409962 2018
Entrez Id: 5502
Gene Symbol: PPP1R1A
PPP1R1A
0.010 Biomarker disease 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
0.010 AlteredExpression disease 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: 2932
Gene Symbol: GSK3B
GSK3B
0.010 AlteredExpression disease 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
0.010 AlteredExpression disease 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
0.010 AlteredExpression disease 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: 7376
Gene Symbol: NR1H2
NR1H2
0.020 Biomarker disease BEFREE A key nucleotide excision repair (NER) protein, xeroderma pigmentosum group D (XPD), is responsible for the excision of a large variety of bulky DNA lesions. 29362353 2018
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum-Cockayne syndrome complex. 28376890 2017
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
0.020 GeneticVariation disease BEFREE A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival. 27908619 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease CLINVAR Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. 27504877 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease BEFREE Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A>C and c.591_594del, resulting in p.S541R and p.Y197* in ERCC2: then, patient was diagnosed with XP-D. Y197* has not been described before. 26993158 2016
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
0.100 GeneticVariation disease 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: 7515
Gene Symbol: XRCC1
XRCC1
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
Entrez Id: 57008
Gene Symbol: RLFP1
RLFP1
0.010 GeneticVariation disease 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: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
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
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
0.100 GeneticVariation disease BEFREE Moreover, healthy relatives had significantly higher frequencies of XRCC3 Thr+ and XPD Lys+ genotypes than unrelated healthy controls. 26554302 2016
Entrez Id: 4968
Gene Symbol: OGG1
OGG1
0.090 Biomarker disease BEFREE Our findings support XRCC1, XRCC3, hOGG1, and XPD as risk genes for schizophrenia and suggest that altered DNA repair functions may be involved in schizophrenia pathophysiology. 26554302 2016
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
0.030 GeneticVariation disease BEFREE For these purposes, we genotyped apurinic/apyrimidinic endonuclease 1 (APE1), human 8-oxoguanine DNA N-glycosylase 1 (hOGG1), X-ray repair cross-complementation group 1 (XRCC1), XRCC3, xeroderma pigmentosum group D (XPD), and xeroderma pigmentosum group G (XPG) genes in schizophrenia subjects, their healthy relatives, and unrelated healthy controls. 26554302 2016
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
0.100 GeneticVariation disease BEFREE The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 and rs1799793) with the response rate and overall survival of cancer patients who accept neoadjuvant therapy has been extensively investigated.However, the results are inconclusive. 26426637 2015