ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.070 GeneticVariation BEFREE Using the multifactor dimensionality reduction method, we found a model of gene-gene interactions associated with the risk of lung cancer: NBS1 (rs1805794)-XRCC1 (rs25487)-hOGG1 (rs1052133)-XPG (rs17655). 31584889 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0684249
Disease:
Carcinoma of lung
0.070 GeneticVariation BEFREE Using the multifactor dimensionality reduction method, we found a model of gene-gene interactions associated with the risk of lung cancer: NBS1 (rs1805794)-XRCC1 (rs25487)-hOGG1 (rs1052133)-XPG (rs17655). 31584889 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.070 GeneticVariation BEFREE Using the multifactor dimensionality reduction method, we found a model of gene-gene interactions associated with the risk of lung cancer: NBS1 (rs1805794)-XRCC1 (rs25487)-hOGG1 (rs1052133)-XPG (rs17655). 31584889 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0009402
Disease:
Colorectal Carcinoma
0.080 GeneticVariation BEFREE However, we did not observe any association between the colorectal cancer risk and the rs3212986(ERCC1) and rs17655(ERCC5) polymorphisms. 31568607 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.060 GeneticVariation BEFREE However, we did not observe any association between the colorectal cancer risk and the rs3212986(ERCC1) and rs17655(ERCC5) polymorphisms. 31568607 2019
dbSNP: rs2094258
rs2094258
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.060 GeneticVariation BEFREE The increase in C alleles of rs2094258 [hazard ratio (HR) = 1.19, 95% confidence interval (CI): 1.02-1.45, <i>P</i> = 0.037] were associated with the long-term survival of GC cases. 31558863 2019
dbSNP: rs2094258
rs2094258
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0699791
Disease:
Stomach Carcinoma
0.060 GeneticVariation BEFREE The increase in C alleles of rs2094258 [hazard ratio (HR) = 1.19, 95% confidence interval (CI): 1.02-1.45, <i>P</i> = 0.037] were associated with the long-term survival of GC cases. 31558863 2019
dbSNP: rs2296147
rs2296147
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0699791
Disease:
Stomach Carcinoma
0.030 GeneticVariation BEFREE None of the examined loci were statistically associated with GC risk, although rs2296147 was marginally associated with GC risk (<i>P</i> = 0.050). 31558863 2019
dbSNP: rs2296147
rs2296147
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE None of the examined loci were statistically associated with GC risk, although rs2296147 was marginally associated with GC risk (<i>P</i> = 0.050). 31558863 2019
dbSNP: rs751402
rs751402
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
dbSNP: rs751402
rs751402
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0699791
Disease:
Stomach Carcinoma
0.100 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.070 GeneticVariation BEFREE XPC K939Q, XPA 5'UTR, XPG F670W and XPG D1104H had the best ability to predict lung cancer risk (CVC = 100, p < 0.0001). 31195348 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.070 GeneticVariation BEFREE XPC K939Q, XPA 5'UTR, XPG F670W and XPG D1104H had the best ability to predict lung cancer risk (CVC = 100, p < 0.0001). 31195348 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0684249
Disease:
Carcinoma of lung
0.070 GeneticVariation BEFREE XPC K939Q, XPA 5'UTR, XPG F670W and XPG D1104H had the best ability to predict lung cancer risk (CVC = 100, p < 0.0001). 31195348 2019
dbSNP: rs1323697
rs1323697
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019
dbSNP: rs1323697
rs1323697
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0009402
Disease:
Colorectal Carcinoma
0.080 GeneticVariation BEFREE In subgroup analysis, the significant association between the rs1</span>7655 C allele and CRC risk was found in Asians and hospital-based subgroups. 30899401 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.060 GeneticVariation BEFREE <i>XPG</i> Asp1104His polymorphism increases colorectal cancer risk especially in Asians. 30899401 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
0.040 GeneticVariation BEFREE Taken together, our results suggested that the <i>XPG</i> rs17655 G > C polymorphism is a low-penetrance susceptibility locus for CRC. 30899401 2019
dbSNP: rs929424117
rs929424117
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0043346
Disease:
Xeroderma Pigmentosum
0.010 GeneticVariation BEFREE Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. 30838033 2019
dbSNP: rs929424117
rs929424117
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G
0.010 GeneticVariation BEFREE Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the <i>ERCC5</i> gene, and resulting in an XP-G phenotype. 30838033 2019
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Our investigations demonstrate that genotypes for the ERCC5 rs17655 polymorphism may be not associated with overall cancer risk. 30539843 2018
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0006826
Disease:
Malignant Neoplasms
0.050 GeneticVariation BEFREE Our investigations demonstrate that genotypes for the ERCC5 rs17655 polymorphism may be not associated with overall cancer risk. 30539843 2018
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE In a subgroup meta-analysis, the results suggest that the ERCC5 rs17655 polymorphism is probably associated with HNC risk in European, but the results should be interpreted with caution for the low number of studies. 30539843 2018
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE In a subgroup meta-analysis, the results suggest that the ERCC5 rs17655 polymorphism is probably associated with HNC risk in European, but the results should be interpreted with caution for the low number of studies. 30539843 2018