chr19:45351661:T>G Detail (hg38) (ERCC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,854,919-45,854,919 View the variant detail on this assembly version. |
| hg38 | chr19:45,351,661-45,351,661 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000400.3:c.2251A>C | NP_000391.1:p.Lys751Gln |
| Ensemble | ENST00000391944.8:c.*248A>C | |
| ENST00000391945.10:c.2251A>C | ENST00000391945.10:p.Lys751Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.035 |
| ToMMo:0.039 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.076 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2021-12-03 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2021-07-30 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group D |
germline
|
Detail |
not provided
|
2016-03-10 | no assertion provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
not provided
|
2016-03-10 | no assertion provided | bone osteosarcoma |
somatic
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-07-30 | criteria provided, single submitter | cerebrooculofacioskeletal syndrome 2 |
germline
|
Detail |
|
Benign
|
2021-07-30 | criteria provided, single submitter | Trichothiodystrophy 1, photosensitive |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| osteosarcoma | Cisplatin | B |
Predictive
|
Supports
|
Resistance | Rare Germline | 4 | 19434073 | Detail |
| lung non-small cell carcinoma | Paclitaxel,Carboplatin | B |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 3 | 19470925 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Non-small cell lung carcinoma | We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... | BeFree | 22052224 | Detail |
| 0.080 | Carcinoma of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.134 | Non-small cell lung carcinoma | We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... | BeFree | 22052224 | Detail |
| 0.156 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.001 | colorectal cancer | To summarize published data on the association between polymorphisms of NER gene... | BeFree | 21278243 | Detail |
| <0.001 | Osteosarcoma of bone | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.001 | glioblastoma | Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism... | BeFree | 24325908 | Detail |
| 0.002 | Osteosarcoma of bone | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.002 | Xeroderma Pigmentosum, Complementation Group D | The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD poly... | BeFree | 26426637 | Detail |
| 0.003 | osteosarcoma | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.004 | osteosarcoma | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.002 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.005 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.001 | colorectal carcinoma | To summarize published data on the association between polymorphisms of NER gene... | BeFree | 21278243 | Detail |
| 0.214 | Malignant neoplasm of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.044 | Malignant neoplasm of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.014 | Carcinoma of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.156 | Non-small cell lung carcinoma | We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... | BeFree | 22052224 | Detail |
| 0.160 | Malignant neoplasm of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.005 | Non-small cell lung carcinoma | We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... | BeFree | 22052224 | Detail |
| 0.219 | Non-small cell lung carcinoma | We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... | BeFree | 22052224 | Detail |
| 0.007 | Carcinoma of lung | Four of the variants were found to be weakly associated with lung cancer risk wi... | BeFree | 18990748 | Detail |
| 0.085 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.011 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.009 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.019 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.001 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.021 | Cancer of Head and Neck | Pooling data and DNA specimens from three case-control studies in western Washin... | BeFree | 16030112 | Detail |
| 0.012 | Cancer of Head and Neck | Pooling data and DNA specimens from three case-control studies in western Washin... | BeFree | 16030112 | Detail |
| 0.042 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.012 | Cancer of Head and Neck | Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmento... | BeFree | 24443924 | Detail |
| <0.001 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.002 | Osteosarcoma of bone | Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (OR... | BeFree | 25824708 | Detail |
| 0.025 | Esophageal Neoplasms | XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-a... | BeFree | 25748732 | Detail |
| 0.005 | chronic lymphocytic leukemia | These preliminary data suggest a possible modifying role of Lys751Gln XPD polymo... | BeFree | 22739018 | Detail |
| 0.015 | Malignant neoplasm of prostate | Subjects with XPD rs13181 G allele had a marginally increased risk of prostate c... | BeFree | 24289586 | Detail |
| 0.001 | Malignant neoplasm of pancreas | Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancrea... | BeFree | 23390054 | Detail |
| 0.005 | Malignant neoplasm of skin | XPD Lys751Gln and Asp312Asn polymorphisms and susceptibility to skin cancer: a m... | BeFree | 25169498 | Detail |
| 0.001 | Cutaneous Melanoma | The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contr... | BeFree | 25169498 | Detail |
| 0.013 | Lymphoma, Non-Hodgkin | Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polym... | BeFree | 25422223 | Detail |
| 0.032 | melanoma | The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contr... | BeFree | 25169498 | Detail |
| 0.004 | osteosarcoma | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| <0.001 | Carcinoma of bladder | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.005 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.005 | Carcinoma of bladder | The association between the Lys751Gln polymorphism in the XPD gene and the risk ... | BeFree | 24535265 | Detail |
| 0.100 | Malignant neoplasm of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.001 | esophageal carcinoma | In this analysis, small associations of the XPD Lys 751 Gln polymorphism with ca... | BeFree | 18349268 | Detail |
| 0.194 | Malignant neoplasm of breast | For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), n... | BeFree | 16002061 | Detail |
| 0.005 | Congenital chromosomal disease | Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 i... | BeFree | 19484764 | Detail |
| 0.044 | Malignant neoplasm of lung | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.008 | breast carcinoma | Statistically significant association of the single nucleotide polymorphism (SNP... | BeFree | 19615095 | Detail |
| 0.001 | Malignant neoplasm of endometrium | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| 0.012 | Non-small cell lung carcinoma | This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were assoc... | BeFree | 21129812 | Detail |
| 0.013 | Malignant neoplasm of lung | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.011 | Leukemia, Myelocytic, Acute | XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-in... | BeFree | 24284041 | Detail |
| 0.014 | Carcinoma of lung | ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians. | BeFree | 20627704 | Detail |
| 0.010 | colorectal carcinoma | Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XP... | BeFree | 20649433 | Detail |
| 0.058 | colorectal cancer | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.014 | Carcinoma of lung | Among men, carriers of the variant allele of XPD Lys751Gln had a non-significant... | BeFree | 14757194 | Detail |
| <0.001 | polyps | In a Minnesota-based case-control study of cases with only adenomatous polyps (n... | BeFree | 16284370 | Detail |
| <0.001 | Rectal Carcinoma | These interactions were stronger for rectal cancer cases (heterogeneity test P =... | BeFree | 19029193 | Detail |
| 0.084 | Malignant neoplasm of breast | The results support the hypothesis that the Lys751Gln polymorphism of XPD gene m... | BeFree | 18459458 | Detail |
| 0.003 | endometrial carcinoma | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| 0.002 | Carcinoma of lung | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.003 | lymphoma | To investigate the relationship between DNA repair and NHL we analysed polymorph... | BeFree | 19736055 | Detail |
| 0.029 | Malignant neoplasm of esophagus | In this analysis, small associations of the XPD Lys 751 Gln polymorphism with ca... | BeFree | 18349268 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome o... | BeFree | 21890746 | Detail |
| 0.015 | Malignant neoplasm of prostate | The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... | BeFree | 23771356 | Detail |
| 0.006 | diffuse large B-cell lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| 0.003 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.002 | Osteosarcoma of bone | Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candid... | BeFree | 23317281 | Detail |
| 0.005 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.003 | hepatitis B | [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | GAD | 19919686 | Detail |
| 0.003 | male infertility | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD... | BeFree | 20864414 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.010 | colorectal carcinoma | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.035 | xeroderma pigmentosum | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups ... | BeFree | 16880786 | Detail |
| 0.214 | Malignant neoplasm of lung | Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been ext... | BeFree | 17952468 | Detail |
| 0.004 | xeroderma pigmentosum | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups ... | BeFree | 16880786 | Detail |
| 0.016 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.012 | Cancer of Head and Neck | Several studies have investigated the association between Lys751Gln polymorphism... | BeFree | 22179996 | Detail |
| 0.011 | Glioma | Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult... | BeFree | 24254311 | Detail |
| 0.214 | Malignant neoplasm of lung | Genome-wide association study reveals novel genetic determinants of DNA repair c... | GWASCAT | 23108145 | Detail |
| 0.002 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmento... | BeFree | 24443924 | Detail |
| 0.011 | Glioma | Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 p... | BeFree | 25867436 | Detail |
| 0.013 | Carcinoma of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.005 | chronic lymphocytic leukemia | Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 i... | BeFree | 19484764 | Detail |
| 0.003 | diffuse large B-cell lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| 0.001 | esophageal carcinoma | XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-a... | BeFree | 25748732 | Detail |
| 0.014 | Carcinoma of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| 0.005 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.084 | Malignant neoplasm of urinary bladder | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.003 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| <0.001 | Sporadic Breast Carcinoma | Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial ... | BeFree | 19051060 | Detail |
| 0.012 | Glioma | Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 p... | BeFree | 25867436 | Detail |
| <0.001 | uterine corpus cancer | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| <0.001 | T-Cell Lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| <0.001 | polyps | In a Minnesota-based case-control study of cases with only adenomatous polyps (n... | BeFree | 16284370 | Detail |
| 0.001 | pancreatic carcinoma | The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and panc... | BeFree | 16458430 | Detail |
| 0.003 | Liver neoplasms | [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | GAD | 19919686 | Detail |
| 0.001 | Adenocarcinoma Of Esophagus | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.001 | Adenocarcinoma Of Esophagus | No associations with EAC or EGJAC were observed with XPD (rs13181). | BeFree | 18386788 | Detail |
| 0.001 | uterine corpus cancer | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| 0.008 | melanoma | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognosti... | BeFree | 21390047 | Detail |
| 0.214 | Malignant neoplasm of lung | ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians. | BeFree | 20627704 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... | BeFree | 23771356 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.084 | Malignant neoplasm of breast | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | Published data regarding the association between xeroderma pigmentosum group D X... | BeFree | 25748732 | Detail |
| 0.014 | Carcinoma of lung | Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been ext... | BeFree | 17952468 | Detail |
| 0.008 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.008 | Precursor Cell Lymphoblastic Leukemia Lymphoma | In this analysis, small associations of the XPD Lys 751 Gln polymorphism with ca... | BeFree | 18349268 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| <0.001 | T-Cell Lymphoma | A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.0... | BeFree | 23619945 | Detail |
| 0.025 | Esophageal Neoplasms | In this analysis, small associations of the XPD Lys 751 Gln polymorphism with ca... | BeFree | 18349268 | Detail |
| 0.001 | pancreatic carcinoma | Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancrea... | BeFree | 23390054 | Detail |
| 0.007 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| <0.001 | gastroesophageal reflux disease | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.005 | Carcinoma of bladder | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.126 | Malignant neoplasm of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| 0.058 | colorectal cancer | We found that: (i) XPC C/A (i11) heterozygous variant is associated with increas... | BeFree | 21559836 | Detail |
| 0.062 | colorectal cancer | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.214 | Malignant neoplasm of lung | We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white ... | BeFree | 11245433 | Detail |
| <0.001 | Non-small cell lung carcinoma | To summarize published data on the association between NER genes and responses t... | BeFree | 21075476 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.002 | Osteosarcoma of bone | In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence... | BeFree | 25023406 | Detail |
| 0.020 | Carcinoma of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| 0.003 | male infertility | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD... | BeFree | 20864414 | Detail |
| 0.084 | Carcinoma of lung | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.002 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.005 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| <0.001 | pediatric acute myeloblastic leukemia | XPD Lys751Gln polymorphism in the etiology and outcome of childhood acute myeloi... | BeFree | 16150943 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.214 | Malignant neoplasm of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| 0.007 | colorectal cancer | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.003 | Carcinoma, Transitional Cell | The aim of this study was to examine the association between polymorphisms of th... | BeFree | 25018058 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | Our results revealed that individuals with ERCC2 rs13181TG/GG genotypes had a de... | BeFree | 23680703 | Detail |
| <0.001 | Adenomatous Polyps | In a Minnesota-based case-control study of cases with only adenomatous polyps (n... | BeFree | 16284370 | Detail |
| 0.008 | breast carcinoma | The results support the hypothesis that the Lys751Gln polymorphism of XPD gene m... | BeFree | 18459458 | Detail |
| <0.001 | skin carcinoma | We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn a... | BeFree | 17687452 | Detail |
| 0.005 | Non-small cell lung carcinoma | This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were assoc... | BeFree | 21129812 | Detail |
| 0.011 | Glioma | Association of ERCC1 C8092A and ERCC2 Lys751Gln polymorphisms with the risk of g... | BeFree | 24763305 | Detail |
| 0.003 | colorectal carcinoma | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| <0.001 | Acute lymphocytic leukemia | In this analysis, small associations of the XPD Lys 751 Gln polymorphism with ca... | BeFree | 18349268 | Detail |
| 0.006 | Squamous cell carcinoma of the head and neck | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... | BeFree | 21419115 | Detail |
| 0.012 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.058 | colorectal cancer | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| <0.001 | leiomyosarcoma | DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosa... | BeFree | 16646069 | Detail |
| 0.013 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.004 | osteosarcoma | In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence... | BeFree | 25023406 | Detail |
| 0.014 | Carcinoma of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| 0.004 | osteosarcoma | Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candid... | BeFree | 23317281 | Detail |
| 0.008 | Carcinoma of lung | Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn11... | BeFree | 17498557 | Detail |
| 0.008 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.010 | colorectal carcinoma | This hospital-based case-control study examined whether polymorphic DNA repair g... | BeFree | 15914278 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | Potential xeroderma pigmentosum group D (XPD), also called excision repair cross... | BeFree | 23028453 | Detail |
| 0.018 | breast carcinoma | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| <0.001 | Sporadic Breast Carcinoma | Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial ... | BeFree | 19051060 | Detail |
| 0.002 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.002 | endometrial carcinoma | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| 0.001 | Malignant neoplasm of pancreas | The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and panc... | BeFree | 16458430 | Detail |
| 0.004 | osteosarcoma | In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence... | BeFree | 25023406 | Detail |
| 0.012 | Malignant neoplasm of stomach | ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-anal... | BeFree | 20981556 | Detail |
| 0.013 | colorectal carcinoma | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.003 | osteosarcoma | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| 0.047 | Carcinoma of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| 0.002 | Experimental Organism Basal Cell Carcinoma | The results of this study, suggest that the XPD Lys751Gln polymorphism may have ... | BeFree | 18246963 | Detail |
| <0.001 | skin carcinoma | We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn a... | BeFree | 17687452 | Detail |
| 0.008 | breast carcinoma | Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in brea... | BeFree | 20379847 | Detail |
| 0.002 | glioblastoma | These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms mi... | BeFree | 24325908 | Detail |
| 0.002 | Osteosarcoma of bone | In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence... | BeFree | 25023406 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.008 | breast carcinoma | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| <0.001 | Malignant neoplasm of endometrium | The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial ca... | BeFree | 22544315 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | The Xeroderma-Pigmentosum group-D polymorphism at codon-751 (XPD-Lys751Gln) emer... | BeFree | 23390054 | Detail |
| 0.002 | Xeroderma Pigmentosum, Complementation Group D | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.002 | Osteosarcoma of bone | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| <0.001 | Barrett esophagus | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.011 | Leukoplakia, Oral | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.176 | squamous cell carcinoma | Statistically significant association of the single nucleotide polymorphism (SNP... | BeFree | 19615095 | Detail |
| 0.003 | prostate carcinoma | The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... | BeFree | 23771356 | Detail |
| 0.003 | male infertility | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD... | BeFree | 20864414 | Detail |
| 0.214 | Malignant neoplasm of lung | [When numeric scores were assigned to both the SNP and demographic data, and seq... | GAD | 19789190 | Detail |
| 0.214 | Malignant neoplasm of lung | Among men, carriers of the variant allele of XPD Lys751Gln had a non-significant... | BeFree | 14757194 | Detail |
| 0.012 | Glioma | The results of this meta-analysis indicate that the AA genotype of ERCC1 C8092A ... | BeFree | 24254311 | Detail |
| 0.014 | Carcinoma of lung | ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta... | BeFree | 20651612 | Detail |
| 0.014 | Carcinoma of lung | In conclusion, Lys751Gln in ERCC2 is associated with lung cancer, and the risk e... | BeFree | 24368330 | Detail |
| 0.098 | Malignant neoplasm of breast | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| 0.010 | colorectal carcinoma | Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in color... | BeFree | 18085999 | Detail |
| 0.124 | Malignant neoplasm of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| 0.058 | colorectal cancer | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.214 | Malignant neoplasm of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| <0.001 | Sporadic Breast Carcinoma | XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer. | BeFree | 18459458 | Detail |
| 0.014 | Carcinoma of lung | Association between ERCC2 Lys751Gln polymorphism and lung cancer risk: a meta-an... | BeFree | 24556168 | Detail |
| 0.014 | Carcinoma of lung | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.084 | Malignant neoplasm of breast | Statistically significant association of the single nucleotide polymorphism (SNP... | BeFree | 19615095 | Detail |
| 0.003 | colorectal carcinoma | The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphism... | BeFree | 20649433 | Detail |
| 0.100 | Malignant neoplasm of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| <0.001 | colorectal carcinoma | We determined the risk of colorectal cancer in association with the four polymor... | BeFree | 17363013 | Detail |
| 0.006 | Leukoplakia, Oral | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.084 | Malignant neoplasm of urinary bladder | The association between the Lys751Gln polymorphism in the XPD gene and the risk ... | BeFree | 24535265 | Detail |
| 0.020 | Carcinoma of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.003 | Nasopharyngeal carcinoma | Distribution and haplotype associations of XPD Lys751Gln, XRCC1 Arg280His and XR... | BeFree | 24761895 | Detail |
| 0.032 | melanoma | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognosti... | BeFree | 21390047 | Detail |
| 0.214 | Malignant neoplasm of lung | A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC... | BeFree | 17498557 | Detail |
| 0.010 | colorectal carcinoma | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| 0.003 | hepatitis C | [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | GAD | 19919686 | Detail |
| 0.044 | Carcinoma of lung | A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the G... | BeFree | 22525558 | Detail |
| 0.016 | Squamous cell carcinoma of the head and neck | Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome o... | BeFree | 21890746 | Detail |
| 0.014 | Carcinoma of lung | Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a... | BeFree | 16875933 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.008 | liver carcinoma | In this study, we investigated whether six polymorphisms (including rs25487, rs8... | BeFree | 25337275 | Detail |
| 0.003 | adenoma | Interestingly, individuals with the XPD Lys751Gln polymorphism had an increased ... | BeFree | 16542436 | Detail |
| <0.001 | acute leukemia | The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: a systema... | BeFree | 24486506 | Detail |
| 0.062 | colorectal cancer | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| 0.002 | stomach carcinoma | ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-anal... | BeFree | 20981556 | Detail |
| 0.008 | colorectal cancer | We determined the risk of colorectal cancer in association with the four polymor... | BeFree | 17363013 | Detail |
| 0.014 | Carcinoma of lung | We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white ... | BeFree | 11245433 | Detail |
| 0.013 | colorectal carcinoma | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| 0.005 | skin carcinoma | Our findings indicate a reduced NMSC risk in relation to XPD Asp312Asn and Lys75... | BeFree | 17687452 | Detail |
| 0.010 | colorectal carcinoma | We found that: (i) XPC C/A (i11) heterozygous variant is associated with increas... | BeFree | 21559836 | Detail |
| 0.004 | liver carcinoma | [XPD codon 312 and 751 polymorphisms, and AFB1 exposure, and hepatocellular carc... | GAD | 19919686 | Detail |
| 0.214 | Malignant neoplasm of lung | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.014 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.072 | Malignant neoplasm of lung | In the present study, we investigated the polymorphisms of the following selecte... | BeFree | 25300687 | Detail |
| 0.058 | colorectal cancer | Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in color... | BeFree | 18085999 | Detail |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | Xeroderma pigmentosum group D (XPD) rs13181 may reduce DNA repair capacity (DRC)... | BeFree | 24845027 | Detail |
| 0.214 | Malignant neoplasm of lung | Association between ERCC2 Lys751Gln polymorphism and lung cancer risk: a meta-an... | BeFree | 24556168 | Detail |
| <0.001 | Urothelial Carcinoma | The aim of this study was to examine the association between polymorphisms of th... | BeFree | 25018058 | Detail |
| 0.214 | Malignant neoplasm of lung | Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a... | BeFree | 16875933 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... | BeFree | 21419115 | Detail |
| 0.012 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.001 | Cutaneous Melanoma | Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with... | BeFree | 23494240 | Detail |
| 0.067 | Malignant neoplasm of lung | Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn11... | BeFree | 17498557 | Detail |
| 0.003 | prostate carcinoma | Subjects with XPD rs13181 G allele had a marginally increased risk of prostate c... | BeFree | 24289586 | Detail |
| 0.084 | Malignant neoplasm of breast | Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in brea... | BeFree | 20379847 | Detail |
| 0.003 | Neoplasm Metastasis | Our results revealed that individuals with ERCC2 rs13181TG/GG genotypes had a de... | BeFree | 23680703 | Detail |
| 0.214 | Malignant neoplasm of lung | In conclusion, Lys751Gln in ERCC2 is associated with lung cancer, and the risk e... | BeFree | 24368330 | Detail |
| 0.120 | Malignant neoplasm of lung | Genome-wide association study reveals novel genetic determinants of DNA repair c... | GWASCAT | 23108145 | Detail |
| 0.010 | breast carcinoma | For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), n... | BeFree | 16002061 | Detail |
| 0.004 | osteosarcoma | Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (OR... | BeFree | 25824708 | Detail |
| 0.010 | colorectal carcinoma | XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... | BeFree | 17363013 | Detail |
| 0.006 | Squamous cell carcinoma of the head and neck | Arg399Gln of XRCC1 appears to have a protective role in people those consume alc... | BeFree | 21945240 | Detail |
| 0.002 | Osteosarcoma of bone | Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (OR... | BeFree | 25824708 | Detail |
| 0.058 | colorectal cancer | This hospital-based case-control study examined whether polymorphic DNA repair g... | BeFree | 15914278 | Detail |
| 0.004 | osteosarcoma | Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (OR... | BeFree | 25824708 | Detail |
| 0.015 | Malignant neoplasm of urinary bladder | These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... | BeFree | 21864546 | Detail |
| 0.002 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.006 | Lymphoma, Non-Hodgkin | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.016 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Compared to those with BMI <25, women with BMI ≥25 had significantly increase... | BeFree | 23619945 | Detail |
| 0.214 | Malignant neoplasm of lung | ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta... | BeFree | 20651612 | Detail |
| 0.012 | Glioma | Association of ERCC1 C8092A and ERCC2 Lys751Gln polymorphisms with the risk of g... | BeFree | 24763305 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | We suggest that the Lys751Gln polymorphism of the ERCC2 gene may be risk factors... | BeFree | 24402573 | Detail |
| 0.029 | Malignant neoplasm of esophagus | XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-a... | BeFree | 25748732 | Detail |
| 0.014 | Carcinoma of lung | A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC... | BeFree | 17498557 | Detail |
| <0.001 | Osteosarcoma of bone | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| 0.032 | melanoma | Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with... | BeFree | 23494240 | Detail |
| <0.001 | leiomyosarcoma | DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosa... | BeFree | 16646069 | Detail |
| 0.098 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.080 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.084 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.011 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.360 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.097 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.085 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.008 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.006 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.004 | breast carcinoma | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
| <0.001 | breast carcinoma | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
| 0.032 | Malignant neoplasm of breast | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
| 0.010 | Malignant neoplasm of breast | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
| 0.044 | Malignant neoplasm of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.007 | Carcinoma of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.020 | Carcinoma of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.092 | Malignant neoplasm of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.100 | Malignant neoplasm of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.012 | Carcinoma of lung | CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI =... | BeFree | 22525558 | Detail |
| 0.010 | colorectal carcinoma | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.030 | colorectal cancer | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.058 | colorectal cancer | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.013 | colorectal carcinoma | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
| 0.156 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.006 | colorectal carcinoma | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.003 | Cancer of Head and Neck | MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck ca... | BeFree | 20571908 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | We investigated the association of 10 base-excision and nucleotide-excision repa... | BeFree | 17531525 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | coronary artery disease | The aim of this study was to investigate the relationship between AP-endonucleas... | BeFree | 23368530 | Detail |
| 0.012 | Cancer of Head and Neck | MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck ca... | BeFree | 20571908 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.003 | Carcinoma of lung | We investigated the association of 10 base-excision and nucleotide-excision repa... | BeFree | 17531525 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Cancer of Head and Neck | MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck ca... | BeFree | 20571908 | Detail |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.036 | Malignant neoplasm of lung | We investigated the association of 10 base-excision and nucleotide-excision repa... | BeFree | 17531525 | Detail |
| 0.062 | colorectal cancer | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.012 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.084 | Carcinoma of lung | We investigated the association of 10 base-excision and nucleotide-excision repa... | BeFree | 17531525 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
| 0.044 | Malignant neoplasm of lung | We investigated the association of 10 base-excision and nucleotide-excision repa... | BeFree | 17531525 | Detail |
| 0.003 | coronary artery disease | The aim of this study was to investigate the relationship between AP-endonucleas... | BeFree | 23368530 | Detail |
| 0.037 | Lung Neoplasms | Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559),... | BeFree | 15564288 | Detail |
| 0.214 | Malignant neoplasm of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.049 | Malignant neoplasm of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.014 | Carcinoma of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.100 | Malignant neoplasm of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.009 | Carcinoma of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.020 | Carcinoma of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.011 | Glioma | We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... | BeFree | 24500421 | Detail |
| 0.012 | Glioma | We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... | BeFree | 24500421 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy... | CIViC Evidence | Detail |
| The ERCC2 K751Q variant is significantly correlated with increased response to paclitaxel and carbop... | CIViC Evidence | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND not specified | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Xeroderma pigmentosum, group D | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Bone osteosarcoma | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND not provided | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Cerebrooculofacioskeletal syndrome 2 | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Trichothiodystrophy 1, photosensitive | ClinVar | Detail |
| We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) ... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 a... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) ... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... | DisGeNET | Detail |
| We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... | DisGeNET | Detail |
| Four of the variants were found to be weakly associated with lung cancer risk with borderline signif... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Pooling data and DNA specimens from three case-control studies in western Washington State, North Ca... | DisGeNET | Detail |
| Pooling data and DNA specimens from three case-control studies in western Washington State, North Ca... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmentosum group D(XPD) gen... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95... | DisGeNET | Detail |
| XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-analysis. | DisGeNET | Detail |
| These preliminary data suggest a possible modifying role of Lys751Gln XPD polymorphism for the devel... | DisGeNET | Detail |
| Subjects with XPD rs13181 G allele had a marginally increased risk of prostate cancer, with adjusted... | DisGeNET | Detail |
| Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancreatic cancer: XPD-Lys7... | DisGeNET | Detail |
| XPD Lys751Gln and Asp312Asn polymorphisms and susceptibility to skin cancer: a meta-analysis of 17 c... | DisGeNET | Detail |
| The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of... | DisGeNET | Detail |
| Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polymorphisms and risk of... | DisGeNET | Detail |
| The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of... | DisGeNET | Detail |
| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| The association between the Lys751Gln polymorphism in the XPD gene and the risk of bladder cancer. | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esopha... | DisGeNET | Detail |
| For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable differe... | DisGeNET | Detail |
| Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL ... | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) wi... | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were associated with survival ... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity... | DisGeNET | Detail |
| ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians. | DisGeNET | Detail |
| Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorp... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| Among men, carriers of the variant allele of XPD Lys751Gln had a non-significantly increased risk of... | DisGeNET | Detail |
| In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... | DisGeNET | Detail |
| These interactions were stronger for rectal cancer cases (heterogeneity test P = 0.002 for XPD Asp31... | DisGeNET | Detail |
| The results support the hypothesis that the Lys751Gln polymorphism of XPD gene may be associated wit... | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| To investigate the relationship between DNA repair and NHL we analysed polymorphisms in XPD (R156R, ... | DisGeNET | Detail |
| In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esopha... | DisGeNET | Detail |
| Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squ... | DisGeNET | Detail |
| The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candidate pharmacogenomic ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | DisGeNET | Detail |
| In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF S... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), ... | DisGeNET | Detail |
| Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been extensively studied in ... | DisGeNET | Detail |
| Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), ... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| Several studies have investigated the association between Lys751Gln polymorphism in the xeroderma pi... | DisGeNET | Detail |
| Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-anal... | DisGeNET | Detail |
| Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung canc... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmentosum group D(XPD) gen... | DisGeNET | Detail |
| Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and gli... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-analysis. | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial and sporadic breast ... | DisGeNET | Detail |
| Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and gli... | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... | DisGeNET | Detail |
| The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. | DisGeNET | Detail |
| [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
| No associations with EAC or EGJAC were observed with XPD (rs13181). | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the cl... | DisGeNET | Detail |
| ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians. | DisGeNET | Detail |
| The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| Published data regarding the association between xeroderma pigmentosum group D XPD Lys751Gln polymor... | DisGeNET | Detail |
| Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been extensively studied in ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esopha... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for WRN (rs1801195; P = 0.004) for T-cell lymph... | DisGeNET | Detail |
| In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esopha... | DisGeNET | Detail |
| Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancreatic cancer: XPD-Lys7... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| We found that: (i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR i... | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases an... | DisGeNET | Detail |
| To summarize published data on the association between NER genes and responses to platinum-based che... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma progno... | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF S... | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| XPD Lys751Gln polymorphism in the etiology and outcome of childhood acute myeloid leukemia: a Childr... | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| The aim of this study was to examine the association between polymorphisms of the DNA repair genes, ... | DisGeNET | Detail |
| Our results revealed that individuals with ERCC2 rs13181TG/GG genotypes had a decreased risk of deat... | DisGeNET | Detail |
| In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... | DisGeNET | Detail |
| The results support the hypothesis that the Lys751Gln polymorphism of XPD gene may be associated wit... | DisGeNET | Detail |
| We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn and Lys751Gln) modify... | DisGeNET | Detail |
| This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were associated with survival ... | DisGeNET | Detail |
| Association of ERCC1 C8092A and ERCC2 Lys751Gln polymorphisms with the risk of glioma: a meta-analys... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esopha... | DisGeNET | Detail |
| Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma progno... | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candidate pharmacogenomic ... | DisGeNET | Detail |
| Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn118Asn, ERCC2 Arg156Ar... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gl... | DisGeNET | Detail |
| Potential xeroderma pigmentosum group D (XPD), also called excision repair cross-complimentary group... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial and sporadic breast ... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. | DisGeNET | Detail |
| In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma progno... | DisGeNET | Detail |
| ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| The results of this study, suggest that the XPD Lys751Gln polymorphism may have a significant role i... | DisGeNET | Detail |
| We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn and Lys751Gln) modify... | DisGeNET | Detail |
| Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. | DisGeNET | Detail |
| These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute gliob... | DisGeNET | Detail |
| In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma progno... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| The 751 Lys/Gln polymorphism of the ERCC2 gene may be linked with endometrial cancer occurrence and ... | DisGeNET | Detail |
| The Xeroderma-Pigmentosum group-D polymorphism at codon-751 (XPD-Lys751Gln) emerged as the most sign... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) wi... | DisGeNET | Detail |
| The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... | DisGeNET | Detail |
| In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF S... | DisGeNET | Detail |
| [When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... | DisGeNET | Detail |
| Among men, carriers of the variant allele of XPD Lys751Gln had a non-significantly increased risk of... | DisGeNET | Detail |
| The results of this meta-analysis indicate that the AA genotype of ERCC1 C8092A may be associated wi... | DisGeNET | Detail |
| ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving ... | DisGeNET | Detail |
| In conclusion, Lys751Gln in ERCC2 is associated with lung cancer, and the risk effect probably exist... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patient... | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer. | DisGeNET | Detail |
| Association between ERCC2 Lys751Gln polymorphism and lung cancer risk: a meta-analysis involving 23,... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) wi... | DisGeNET | Detail |
| The association of OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms and the susceptibi... | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| The association between the Lys751Gln polymorphism in the XPD gene and the risk of bladder cancer. | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| Distribution and haplotype associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln polymo... | DisGeNET | Detail |
| ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the cl... | DisGeNET | Detail |
| A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but ... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| [XPD codon 751 polymorphism modifies the risk of hepatocellular carcinoma] | DisGeNET | Detail |
| A pertinent combination of multiple at-risk genotypes of CYP1A1 rs4646903, the GSTM1 deletion polymo... | DisGeNET | Detail |
| Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squ... | DisGeNET | Detail |
| Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a northeastern Chines... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs... | DisGeNET | Detail |
| Interestingly, individuals with the XPD Lys751Gln polymorphism had an increased risk of low-risk ade... | DisGeNET | Detail |
| The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: a systematic review and meta-... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... | DisGeNET | Detail |
| We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases an... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| Our findings indicate a reduced NMSC risk in relation to XPD Asp312Asn and Lys751Gln variants. | DisGeNET | Detail |
| We found that: (i) XPC C/A (i11) heterozygous variant is associated with increased risk of CRC [OR i... | DisGeNET | Detail |
| [XPD codon 312 and 751 polymorphisms, and AFB1 exposure, and hepatocellular carcinoma risk.] | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| In the present study, we investigated the polymorphisms of the following selected members of the bas... | DisGeNET | Detail |
| Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patient... | DisGeNET | Detail |
| Xeroderma pigmentosum group D (XPD) rs13181 may reduce DNA repair capacity (DRC) through modifying X... | DisGeNET | Detail |
| Association between ERCC2 Lys751Gln polymorphism and lung cancer risk: a meta-analysis involving 23,... | DisGeNET | Detail |
| The aim of this study was to examine the association between polymorphisms of the DNA repair genes, ... | DisGeNET | Detail |
| Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a northeastern Chines... | DisGeNET | Detail |
| Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to c... | DisGeNET | Detail |
| Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn118Asn, ERCC2 Arg156Ar... | DisGeNET | Detail |
| Subjects with XPD rs13181 G allele had a marginally increased risk of prostate cancer, with adjusted... | DisGeNET | Detail |
| Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. | DisGeNET | Detail |
| Our results revealed that individuals with ERCC2 rs13181TG/GG genotypes had a decreased risk of deat... | DisGeNET | Detail |
| In conclusion, Lys751Gln in ERCC2 is associated with lung cancer, and the risk effect probably exist... | DisGeNET | Detail |
| Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung canc... | DisGeNET | Detail |
| For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable differe... | DisGeNET | Detail |
| Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95... | DisGeNET | Detail |
| XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... | DisGeNET | Detail |
| Arg399Gln of XRCC1 appears to have a protective role in people those consume alcohol, while XPD Lys7... | DisGeNET | Detail |
| Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95... | DisGeNET | Detail |
| This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gl... | DisGeNET | Detail |
| Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95... | DisGeNET | Detail |
| These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ... | DisGeNET | Detail |
| ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving ... | DisGeNET | Detail |
| Association of ERCC1 C8092A and ERCC2 Lys751Gln polymorphisms with the risk of glioma: a meta-analys... | DisGeNET | Detail |
| We suggest that the Lys751Gln polymorphism of the ERCC2 gene may be risk factors for triple-negative... | DisGeNET | Detail |
| XPD Lys751Gln polymorphisms and the risk of esophageal cancer: an updated meta-analysis. | DisGeNET | Detail |
| A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but ... | DisGeNET | Detail |
| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to c... | DisGeNET | Detail |
| DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
| In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
| In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
| In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GST... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility:... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... | DisGeNET | Detail |
| MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility:... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility:... | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... | DisGeNET | Detail |
| The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... | DisGeNET | Detail |
| Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559), a protein required ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... | DisGeNET | Detail |
| We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs13181 dbSNP
- Genome
- hg38
- Position
- chr19:45,351,661-45,351,661
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1205
- Mean of sample read depth (HGVD)
- 58.63
- Standard deviation of sample read depth (HGVD)
- 36.91
- Number of reference allele (HGVD)
- 2326
- Number of alternative allele (HGVD)
- 84
- Allele Frequency (HGVD)
- 0.034854771784232366
- Gene Symbol (HGVD)
- ERCC2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs13181
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.039
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 654
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8608
- East Asian Allele Counts (ExAC)
- 652
- East Asian Heterozygous Counts (ExAC)
- 606
- East Asian Homozygous Counts (ExAC)
- 23
- East Asian Allele Frequency (ExAC)
- 0.07574349442379182
- Chromosome Counts in All Race (ExAC)
- 120642
- Allele Counts in All Race (ExAC)
- 39911
- Heterozygous Counts in All Race (ExAC)
- 25203
- Homozygous Counts in All Race (ExAC)
- 7354
- Allele Frequency in All Race (ExAC)
- 0.3308217701961174
- Variant (CIViC) (CIViC Variant)
- K751Q
- Transcript 1 (CIViC Variant)
- ENST00000391945.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/264
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