Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.030 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE Moreover, in a dominant model, the CG + GG genotype of rs17655 was correlated with an increased risk of gastric cancer compared to the CC genotype (OR = 1.48; 95%CI = 1.00-2.22). rs1047768 and rs751402 were not significantly correlated with an increased or decreased gastric cancer risk. 27051028 2016
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.030 GeneticVariation BEFREE Moreover, in a dominant model, the CG + GG genotype of rs17655 was correlated with an increased risk of gastric cancer compared to the CC genotype (OR = 1.48; 95%CI = 1.00-2.22). rs1047768 and rs751402 were not significantly correlated with an increased or decreased gastric cancer risk. 27051028 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.030 GeneticVariation BEFREE For ERCC5, a gene involved in nucleotide excision repair, TC genotype carriers of rs1047768 (OR, 0.65; 95% CI, 0.41-1.03), GC genotype carriers of the nonsynonymous SNP rs2227869 (OR, 0.30; 95% CI, 0.13-0.67), and CCG haplotype carriers of rs1047768, rs17655, and rs2227869 (OR, 0.45; 95% CI, 0.20-1.04) were associated with reduced stomach cancer risk. 19661089 2009
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.030 GeneticVariation BEFREE For ERCC5, a gene involved in nucleotide excision repair, TC genotype carriers of rs1047768 (OR, 0.65; 95% CI, 0.41-1.03), GC genotype carriers of the nonsynonymous SNP rs2227869 (OR, 0.30; 95% CI, 0.13-0.67), and CCG haplotype carriers of rs1047768, rs17655, and rs2227869 (OR, 0.45; 95% CI, 0.20-1.04) were associated with reduced stomach cancer risk. 19661089 2009
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.020 GeneticVariation BEFREE Here, we performed a meta-analysis to determine the strength of the association between eight polymorphisms in the <i>ERCC</i> genes (rs11615, rs3212986, rs2298881, rs13181, rs1799793, rs1800067, rs2296147, and rs1047768) and prognosis of osteosarcoma patients treated with chemotherapy. 29950854 2018
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
0.020 GeneticVariation BEFREE Here, we performed a meta-analysis to determine the strength of the association between eight polymorphisms in the <i>ERCC</i> genes (rs11615, rs3212986, rs2298881, rs13181, rs1799793, rs1800067, rs2296147, and rs1047768) and prognosis of osteosarcoma patients treated with chemotherapy. 29950854 2018
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
0.020 GeneticVariation BEFREE Here, we performed a meta-analysis to determine the strength of the association between eight polymorphisms in the <i>ERCC</i> genes (rs11615, rs3212986, rs2298881, rs13181, rs1799793, rs1800067, rs2296147, and rs1047768) and prognosis of osteosarcoma patients treated with chemotherapy. 29950854 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE However, rs1047768C>T and rs17655G>C polymorphisms did not influence the PFS and OS of advanced NSCLC. 24615519 2014
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.020 GeneticVariation BEFREE Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy. 23679317 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE In conclusion, our study found that polymorphisms in rs1047768 C/T and rs2296147 C/T are associated with response to platinum-based chemotherapy in advanced NSCLC, and XPG polymorphisms could be predictive of prognosis. 23621222 2013
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
0.020 GeneticVariation BEFREE Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy. 23679317 2013
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
0.020 GeneticVariation BEFREE Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy. 23679317 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE XPG rs1047768 was significantly associated with decreased PFS (HR 1.72; 95% CI 1.0-2.8) in breast cancer cases (P = 0.013) which was demonstrated by median time of 26 months for T > C variant when compared with median time of 37 months for TT genotype. 30255276 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE XPG rs1047768 was significantly associated with decreased PFS (HR 1.72; 95% CI 1.0-2.8) in breast cancer cases (P = 0.013) which was demonstrated by median time of 26 months for T > C variant when compared with median time of 37 months for TT genotype. 30255276 2018
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
0.010 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771 2017
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE In a hospital-based case-control study of 1,004 PCa cases and 1,055 cancer-free controls, we genotyped eight potentially functional single nucleotide polymorphisms (SNPs) of NER genes (i.e., XPC, rs2228001 T>G and rs1870134 G>C; XPD, rs13181 T>G and rs238406 G>T; XPG, rs1047768 T>C, rs751402 C>T, and rs17655 G>C; and XPF, rs2276464 G>C) and assessed their associations with risk of PCa by using logistic regression analysis. 27974699 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA. 28351583 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE In a stratified analysis, rs1047768 T>C was associated with an increased risk of lung cancer, rs2227869 G>C was associated with a decreased risk of cancer in population-based studies, and rs751402 C>T and rs873601 G>A were associated with the risk of gastric cancer. 28416771 2017
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In a hospital-based case-control study of 1,004 PCa cases and 1,055 cancer-free controls, we genotyped eight potentially functional single nucleotide polymorphisms (SNPs) of NER genes (i.e., XPC, rs2228001 T>G and rs1870134 G>C; XPD, rs13181 T>G and rs238406 G>T; XPG, rs1047768 T>C, rs751402 C>T, and rs17655 G>C; and XPF, rs2276464 G>C) and assessed their associations with risk of PCa by using logistic regression analysis. 27974699 2017