eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glioblastoma | ||||
| Disease ID | 714 |
|---|---|
| Disease | glioblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:23) C2364133 | infection C2096315 | headache C2029884 | hearing loss C1840264 | immune suppression C1527311 | brain edema C1519670 | tumor angiogenesis C1518171 | malignant conversion C0850497 | immune deficiency C0686377 | cns metastases C0684550 | spinal metastases C0520731 | retraction nystagmus C0276226 | herpes encephalitis C0153687 | skin metastases C0153676 | pulmonary metastases C0041107 | trisomies C0038454 | stroke C0031763 | photosensitization C0029132 | optic neuropathy C0025637 | methemoglobinemia C0024419 | macroglobulinemia C0019080 | hemorrhage C0017638 | glial tumors C0014544 | epilepsy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0006118 | brain tumor | 4 C0684550 | spinal metastases | 2 C0017638 | glial tumors | 2 C0029132 | optic neuropathy | 2 C0014544 | epilepsy | 2 C0009450 | infection | 2 C0948008 | ischemic stroke | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:109) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042522 | 23860773 | 7157 | TP53 | umls:C0017636 | BeFree | Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma. | 0.132276489 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1045642 | 15947495 | 5243 | ABCB1 | umls:C0017636 | BeFree | Although the C3435T polymorphism does not appear to be associated with other types of glioma, we cannot rule out that this MDR1 polymorphism may be associated with glioblastoma among men. | 0.012430244 | 2005 | ABCB1 | 7 | 87509329 | A | T,G |
| rs10464870 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | CCDC26 | 8 | 129465577 | C | T |
| rs113488022 | 21479234 | 673 | BRAF | umls:C0017636 | BeFree | BRAF V600E mutations were identified in only 2 of 71 (2.8%) glioblastoma (GBM) analyzed, including 1 of 9 (11.1%) giant cell GBM (gcGBM). | 0.003257302 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24354918 | 673 | BRAF | umls:C0017636 | BeFree | Intratumoral heterogeneity of genomic imbalance in a case of epithelioid glioblastoma with BRAF V600E mutation. | 0.003257302 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25346165 | 673 | BRAF | umls:C0017636 | BeFree | An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM-N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF(V600E) by direct sequencing. | 0.003257302 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25581727 | 673 | BRAF | umls:C0017636 | BeFree | BRAF VE1 immunoreactivity patterns in epithelioid glioblastomas positive for BRAF V600E mutation. | 0.003257302 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23552385 | 673 | BRAF | umls:C0017636 | BeFree | We tested our originally reported cohort of 8 E-GBMs and 2 rhabdoid GBMs (R-GBM) as well as 5 new E-GBMs (1 pediatric, 4 adult) and 9 GC-GBMs (2 pediatric, 7 adult) (n=24) for BRAF V600E mutational status. | 0.003257302 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24894018 | 673 | BRAF | umls:C0017636 | BeFree | These findings suggest that epithelioid GBM may arise from a PXA with a BRAF V600E mutation. | 0.003257302 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24894018 | 22858 | ICK | umls:C0017636 | BeFree | A valine-to-glutamic acid substitution at position 600 of the serine/threonine-protein kinase BRAF (BRAF V600E) mutation, which is commonly found in PXA, has recently been detected in approximately 50% of all epithelioid glioblastoma (GBM) cases. | 0.000814326 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25885250 | 673 | BRAF | umls:C0017636 | BeFree | We report here the detection of the BRAF V600E mutation in a patient with c-GBM and describe the patient's clinical course as well as the results of histopathological analysis. | 0.003257302 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23552385 | 673 | BRAF | umls:C1621958 | BeFree | We tested our originally reported cohort of 8 E-GBMs and 2 rhabdoid GBMs (R-GBM) as well as 5 new E-GBMs (1 pediatric, 4 adult) and 9 GC-GBMs (2 pediatric, 7 adult) (n=24) for BRAF V600E mutational status. | 0.000542884 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1136410 | 19318434 | 142 | PARP1 | umls:C1621958 | BeFree | The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction in risk for glioblastoma multiforme (odds ratio(CT or CC), 0.80; 95% confidence interval, 0.67-0.95). | 0.000814326 | 2009 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 19318434 | 142 | PARP1 | umls:C0017636 | BeFree | The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction in risk for glioblastoma multiforme (odds ratio(CT or CC), 0.80; 95% confidence interval, 0.67-0.95). | 0.003800186 | 2009 | PARP1 | 1 | 226367601 | A | G |
| rs11540652 | 24768217 | 7157 | TP53 | umls:C1621958 | BeFree | Genomic sequencing revealed a single nucleotide variant, p.R248Q in exon 7 of TP53, in the primary desmoplastic infantile ganglioglioma and the glioblastoma multiforme. | 0.013767591 | 2014 | TP53 | 17 | 7674220 | C | T |
| rs11540654 | 23860773 | 7157 | TP53 | umls:C0017636 | BeFree | Our study suggests that the polymorphism of p53 codon 72 Arg/Pro may play a protective role in the development of glioblastoma. | 0.132276489 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11615 | 24325908 | 2067 | ERCC1 | umls:C0017636 | BeFree | Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of ERCC1 rs11615 polymorphism was significantly associated with a protective effect of developing glioblastoma (OR=0.34, 95% CI 0.16-0.71; P=0.004). | 0.001357209 | 2013 | ERCC1 | 19 | 45420395 | A | G |
| rs11670188 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | BTBD2 | 19 | 2014038 | A | G |
| rs118101777 | 25427834 | 3418 | IDH2 | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.008414698 | 2014 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 25427834 | 3417 | IDH1 | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.052842746 | 2014 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 23115158 | 3417 | IDH1 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.052842746 | 2013 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 23115158 | 3418 | IDH2 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.008414698 | 2013 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 25427834 | 546 | ATRX | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.001357209 | 2014 | IDH2 | 15 | 90087472 | C | T |
| rs121912438 | 15208263 | 6647 | SOD1 | umls:C0017636 | BeFree | Furthermore, selective death of embryonal spinal motor neurons from G93A-SOD1 transgenic mice is induced by coculture with G93A-glioblastoma and prevented by inhibition of NO synthase. | 0.003181358 | 2004 | SOD1 | 21 | 31667299 | G | C |
| rs121913500 | 25415071 | 3417 | IDH1 | umls:C1621958 | BeFree | Using antibody against p53 and IDH1 R132H, the authors immunohistochemically analyzed GBM tissue from patients who had undergone surgery at the University of Miyazaki Hospital during August 2005-December 2011. | 0.002442977 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 25427834 | 546 | ATRX | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.001357209 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23934175 | 3417 | IDH1 | umls:C0017636 | BeFree | We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111). | 0.052842746 | 2013 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 25427834 | 3417 | IDH1 | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.052842746 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 25427834 | 3418 | IDH2 | umls:C0017636 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.008414698 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 26190195 | 3417 | IDH1 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.052842746 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23011765 | 3417 | IDH1 | umls:C0017636 | BeFree | Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. | 0.052842746 | 2013 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24473683 | 1410 | CRYAB | umls:C0017636 | BeFree | We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. | 0.006263026 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 26190195 | 10630 | PDPN | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.000814326 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 22821382 | 3417 | IDH1 | umls:C0017636 | BeFree | Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (p.R132H), have been reported for WHO grade II and III diffuse gliomas and secondary glioblastomas. | 0.052842746 | 2012 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 22197544 | 3417 | IDH1 | umls:C0017636 | BeFree | The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecular pathway as seen in primary GBM. | 0.052842746 | 2012 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 22785212 | 3417 | IDH1 | umls:C0017636 | BeFree | Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1 (R132H)) occurs in > 70% of WHO grade II-III gliomas and secondary glioblastomas. | 0.052842746 | 2012 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 26190195 | 4763 | NF1 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.121085767 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 26190195 | 7157 | TP53 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.132276489 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 26190195 | 1956 | EGFR | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.255782082 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 21955925 | 3417 | IDH1 | umls:C0017636 | BeFree | Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas. | 0.052842746 | 2011 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24473683 | 3417 | IDH1 | umls:C0017636 | BeFree | We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. | 0.052842746 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23115158 | 3417 | IDH1 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.052842746 | 2013 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23115158 | 3418 | IDH2 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.008414698 | 2013 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 20560678 | 3417 | IDH1 | umls:C0017636 | BeFree | Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation. | 0.052842746 | 2010 | IDH1 | 2 | 208248388 | C | T |
| rs121913503 | 23115158 | 3417 | IDH1 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.052842746 | 2013 | IDH2 | 15 | 90088606 | C | T |
| rs121913503 | 23115158 | 3418 | IDH2 | umls:C0017636 | BeFree | Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. | 0.008414698 | 2013 | IDH2 | 15 | 90088606 | C | T |
| rs13181 | 24325908 | 2067 | ERCC1 | umls:C0017636 | BeFree | Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of ERCC1 rs11615 polymorphism was significantly associated with a protective effect of developing glioblastoma (OR=0.34, 95% CI 0.16-0.71; P=0.004). | 0.001357209 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 24325908 | 4292 | MLH1 | umls:C0017636 | BeFree | These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis. | 0.002171535 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1563834 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | HMGA2 | 12 | 65904251 | C | T |
| rs16906252 | 22975219 | 4255 | MGMT | umls:C0017636 | BeFree | The T genotype of the MGMT C>T (rs16906252) enhancer single-nucleotide polymorphism (SNP) is associated with promoter methylation and longer survival in glioblastoma patients. | 0.201797268 | 2013 | MGMT | 10 | 129467281 | C | T |
| rs1695 | 21128213 | 2950 | GSTP1 | umls:C0017636 | BeFree | GSTP1 Ile105Val polymorphism in astrocytomas and glioblastomas. | 0.005634266 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1800734 | 24325908 | 4292 | MLH1 | umls:C0017636 | BeFree | These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis. | 0.002171535 | 2013 | MLH1;EPM2AIP1 | 3 | 36993455 | G | A |
| rs1800871 | 23663500 | 3596 | IL13 | umls:C0017636 | BeFree | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype CT of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 - 0.97; p = 0.037). | 0.009348576 | 2013 | IL10 | 1 | 206773289 | A | G |
| rs1800871 | 23663500 | 3586 | IL10 | umls:C0017636 | BeFree | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype CT of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 - 0.97; p = 0.037). | 0.000814326 | 2013 | IL10 | 1 | 206773289 | A | G |
| rs1801198 | 17119065 | 4524 | MTHFR | umls:C1621958 | BeFree | We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme. | 0.000542884 | 2006 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801198 | 17119065 | 6948 | TCN2 | umls:C1621958 | BeFree | We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme. | 0.000271442 | 2006 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801198 | 17119065 | 4524 | MTHFR | umls:C0017636 | BeFree | We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme. | 0.008630058 | 2006 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801198 | 17119065 | 6948 | TCN2 | umls:C0017636 | BeFree | We investigated MTR c.2756A>G, MTHFR c.677C>T, and a third polymorphism, transcobalamin 2 c.776C>G (P259R), for a potential association with the formation of glioblastoma multiforme. | 0.000271442 | 2006 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801275 | 23663500 | 3565 | IL4 | umls:C0017636 | BeFree | The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = 2.29; 95% CI, 1.20 - 4.35; p = 0.0081) We further analyzed whether the six cytokine genes have a different effect on the disease in gender specific population, and found that the allele G of rs2243248 in the IL-4 gene showed a decrease risk of GBM in female (OR = 0.35, 95% CI, 0.13 - 0.94, p = 0.0032), but the allele T showed a decrease risk in male (OR = 0.30, 95% CI, 0.17 - 0.53, p = 0.0032). | 0.004810009 | 2013 | IL4R | 16 | 27363079 | A | G |
| rs2010963 | 25488073 | 7422 | VEGFA | umls:C0017636 | BeFree | VEGFA SNP rs2010963 is associated with vascular toxicity in recurrent glioblastomas and longer response to bevacizumab. | 0.162133079 | 2014 | VEGFA | 6 | 43770613 | C | G |
| rs2016347 | 18562769 | 3479 | IGF1 | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.005710211 | 2008 | IGF1R | 15 | 98960571 | G | T |
| rs2016347 | 18562769 | 3480 | IGF1R | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.003810118 | 2008 | IGF1R | 15 | 98960571 | G | T |
| rs20541 | 23663500 | 3596 | IL13 | umls:C0017636 | BeFree | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype CT of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 - 0.97; p = 0.037). | 0.009348576 | 2013 | IL13 | 5 | 132660272 | A | G |
| rs20541 | 23663500 | 3586 | IL10 | umls:C0017636 | BeFree | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype CT of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 - 0.97; p = 0.037). | 0.000814326 | 2013 | IL13 | 5 | 132660272 | A | G |
| rs2234248 | 25472582 | 3596 | IL13 | umls:C0017636 | BeFree | No association between IL-4/IL-13 pathway genetic polymorphisms and glioma risk was observed in the overall population, although a significant association was found between rs2234248 and glioblastoma when stratified by histological subtype (log-additive model, OR 1.57, 95 % CI 1.11-2.24). | 0.009348576 | 2014 | TREM2;LOC105375056 | 6 | 41163980 | A | G |
| rs2234248 | 25472582 | 3565 | IL4 | umls:C0017636 | BeFree | No association between IL-4/IL-13 pathway genetic polymorphisms and glioma risk was observed in the overall population, although a significant association was found between rs2234248 and glioblastoma when stratified by histological subtype (log-additive model, OR 1.57, 95 % CI 1.11-2.24). | 0.004810009 | 2014 | TREM2;LOC105375056 | 6 | 41163980 | A | G |
| rs2243248 | 23663500 | 3565 | IL4 | umls:C0017636 | BeFree | The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = 2.29; 95% CI, 1.20 - 4.35; p = 0.0081) We further analyzed whether the six cytokine genes have a different effect on the disease in gender specific population, and found that the allele G of rs2243248 in the IL-4 gene showed a decrease risk of GBM in female (OR = 0.35, 95% CI, 0.13 - 0.94, p = 0.0032), but the allele T showed a decrease risk in male (OR = 0.30, 95% CI, 0.17 - 0.53, p = 0.0032). | 0.004810009 | 2013 | IL4 | 5 | 132672952 | T | G |
| rs2272037 | 18562769 | 3479 | IGF1 | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.005710211 | 2008 | IGF1R | 15 | 98913024 | T | C |
| rs2272037 | 18562769 | 3480 | IGF1R | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.003810118 | 2008 | IGF1R | 15 | 98913024 | T | C |
| rs2297440 | 21356187 | 51750 | RTEL1 | umls:C0017636 | BeFree | The opposite is true of RTEL (20q13) region polymorphisms, which are significantly associated with glioblastoma (rs2297440, OR = 0.56, P = 4.6 × 10(-10)) but not oligodendroglial tumor. | 0.001628651 | 2011 | RTEL1;RTEL1-TNFRSF6B | 20 | 63680946 | T | C |
| rs2297440 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | RTEL1;RTEL1-TNFRSF6B | 20 | 63680946 | T | C |
| rs2736098 | 21350045 | 51750 | RTEL1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.001628651 | 2011 | TERT | 5 | 1293971 | C | T |
| rs2736098 | 21350045 | 23187 | PHLDB1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.000542884 | 2011 | TERT | 5 | 1293971 | C | T |
| rs2736098 | 21350045 | 7015 | TERT | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.018150387 | 2011 | TERT | 5 | 1293971 | C | T |
| rs2736100 | 21350045 | 7015 | TERT | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.018150387 | 2011 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 21350045 | 23187 | PHLDB1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.000542884 | 2011 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 21350045 | 51750 | RTEL1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.001628651 | 2011 | TERT | 5 | 1286401 | C | A |
| rs28934576 | 24399651 | 7157 | TP53 | umls:C0017636 | BeFree | The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. | 0.132276489 | 2013 | TP53 | 17 | 7673802 | C | T,A |
| rs371409680 | 12019170 | 581 | BAX | umls:C0017636 | BeFree | Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p53(R283H) could transactivate the CDKN1A((p21, WAF1, cip1, SDI1)) but not the BAX gene and retained the ability to induce growth arrest of human glioblastoma cells. | 0.007348794 | 2002 | TP53 | 17 | 7673772 | C | T |
| rs373584770 | 15208263 | 834 | CASP1 | umls:C0017636 | BeFree | Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-SOD1s (G37R, G85R, and I113T) cocultured with glioblastoma lines expressing the corresponding mutant enzymes. | 0.000271442 | 2004 | CASP1 | 11 | 105030337 | G | A |
| rs373584770 | 15208263 | 836 | CASP3 | umls:C0017636 | BeFree | Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-SOD1s (G37R, G85R, and I113T) cocultured with glioblastoma lines expressing the corresponding mutant enzymes. | 0.008706003 | 2004 | CASP1 | 11 | 105030337 | G | A |
| rs386545618 | 18497326 | 4524 | MTHFR | umls:C0017636 | BeFree | The methylenetetrahydrofolate reductase (MTHFR) variant c.677C>T (A222V) influences overall survival of patients with glioblastoma multiforme. | 0.008630058 | 2008 | NA | NA | NA | NA | NA |
| rs386545618 | 18497326 | 4524 | MTHFR | umls:C1621958 | BeFree | The methylenetetrahydrofolate reductase (MTHFR) variant c.677C>T (A222V) influences overall survival of patients with glioblastoma multiforme. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs386626645 | 25134866 | 540 | ATP7B | umls:C0017636 | BeFree | OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
| rs4295627 | 21356187 | 137196 | CCDC26 | umls:C0017636 | BeFree | CCDC26 (8q24) region polymorphisms are strongly associated with oligodendroglial tumor risk (rs4295627, odds ratio [OR] = 2.05, P = 8.3 × 10(-11)) but not glioblastoma risk. | 0.001085767 | 2011 | CCDC26 | 8 | 129673211 | T | G |
| rs498872 | 21350045 | 51750 | RTEL1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.001628651 | 2011 | PHLDB1 | 11 | 118606652 | A | G |
| rs498872 | 21350045 | 23187 | PHLDB1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.000542884 | 2011 | PHLDB1 | 11 | 118606652 | A | G |
| rs498872 | 21350045 | 7015 | TERT | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.018150387 | 2011 | PHLDB1 | 11 | 118606652 | A | G |
| rs5498 | 19306055 | 3383 | ICAM1 | umls:C0017636 | BeFree | However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited higher frequency in grade II astrocytomas compared to controls, grade III, and grade IV astrocytomas; suggesting that this polymorphism could be involved in the development of grade II astrocytomas. | 0.000814326 | 2009 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs55819519 | 26190195 | 10630 | PDPN | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.000814326 | 2015 | TP53 | 17 | 7673751 | C | T |
| rs55819519 | 26190195 | 1956 | EGFR | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.255782082 | 2015 | TP53 | 17 | 7673751 | C | T |
| rs55819519 | 26190195 | 3417 | IDH1 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.052842746 | 2015 | TP53 | 17 | 7673751 | C | T |
| rs55819519 | 26190195 | 7157 | TP53 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.132276489 | 2015 | TP53 | 17 | 7673751 | C | T |
| rs55819519 | 20455025 | 7157 | TP53 | umls:C1621958 | BeFree | One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. | 0.013767591 | 2010 | TP53 | 17 | 7673751 | C | T |
| rs55819519 | 26190195 | 4763 | NF1 | umls:C0017636 | BeFree | Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. | 0.121085767 | 2015 | TP53 | 17 | 7673751 | C | T |
| rs6010620 | 21350045 | 23187 | PHLDB1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.000542884 | 2011 | RTEL1;RTEL1-TNFRSF6B | 20 | 63678486 | A | G |
| rs6010620 | 21350045 | 51750 | RTEL1 | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.001628651 | 2011 | RTEL1;RTEL1-TNFRSF6B | 20 | 63678486 | A | G |
| rs6010620 | 21350045 | 7015 | TERT | umls:C0017636 | BeFree | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). | 0.018150387 | 2011 | RTEL1;RTEL1-TNFRSF6B | 20 | 63678486 | A | G |
| rs6220 | 18562769 | 3480 | IGF1R | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.003810118 | 2008 | IGF1;LOC105369942 | 12 | 102400737 | G | A |
| rs6220 | 18562769 | 3479 | IGF1 | umls:C0017636 | BeFree | No indications of association were seen for glioblastoma, but for low-grade gliomas, the odds ratio under a dominant model was 0.56 (95% confidence interval [CI], 0.35-0.90) for IGF1 rs6220, 2.98 (95% CI, 1.65-5.38) for IGF1R rs2272037, and 1.60 (95% CI, 0.90-2.83) for IGF1R rs2016347. | 0.005710211 | 2008 | IGF1;LOC105369942 | 12 | 102400737 | G | A |
| rs660118 | 21695249 | 9092 | SART1 | umls:C0017636 | BeFree | Particularly, the breast cancer associated allele of rs660118 SNP in the gene SART1 showed a near doubled frequency in glioblastoma patients, as verified in an independent control cohort by Sanger sequencing. | 0.000271442 | 2011 | SART1 | 11 | 65967703 | G | C |
| rs7003908 | 19318434 | 5591 | PRKDC | umls:C0017636 | BeFree | A 44% increase in risk for glioblastoma multiforme was found for individuals homozygous for the G allele of the PRKDC rs7003908 variant (odds ratio(GG), 1.44; 95% confidence interval, 1.13-1.84); there was a statistically significant trend (P = 0.009) with increasing number of G alleles. | 0.003810118 | 2009 | PRKDC | 8 | 47858141 | C | A |
| rs7003908 | 19318434 | 5591 | PRKDC | umls:C1621958 | BeFree | A 44% increase in risk for glioblastoma multiforme was found for individuals homozygous for the G allele of the PRKDC rs7003908 variant (odds ratio(GG), 1.44; 95% confidence interval, 1.13-1.84); there was a statistically significant trend (P = 0.009) with increasing number of G alleles. | 0.000271442 | 2009 | PRKDC | 8 | 47858141 | C | A |
| rs7325927 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | FAM155A;FAM155A-IT1 | 13 | 107823165 | C | T |
| rs76151636 | 25134866 | 540 | ATP7B | umls:C0017636 | BeFree | OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells. | 0.000271442 | 2014 | ATP7B | 13 | 51944145 | G | A,T |
| rs7732320 | 22472174 | 23635 | SSBP2 | umls:C0017636 | GAD | [SSBP2 variants are associated with survival in glioblastoma patients.] | 0.122638474 | 2012 | SSBP2 | 5 | 81423306 | C | T |
| rs7732320 | 22472174 | 23635 | SSBP2 | umls:C0017636 | GWASCAT | SSBP2 variants are associated with survival in glioblastoma patients. | 0.122638474 | 2012 | SSBP2 | 5 | 81423306 | C | T |
| rs891835 | 20368557 | 137196 | CCDC26 | umls:C0017636 | BeFree | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 and rs891835, HMGA2 rs1563834, and RTEL1 rs2297440 as predictors of LTS. | 0.001085767 | 2010 | CCDC26 | 8 | 129479506 | T | G |
| rs9642393 | 24005813 | 1956 | EGFR | umls:C0017636 | BeFree | When we analyzed tSNPs under different inheritance models, we found rs9642393 in EGFR increased odds of developing GBM in the dominant model. | 0.255782082 | 2013 | EGFR | 7 | 55177954 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 714 |
|---|---|
| Disease | glioblastoma |
| Case | (Waiting for update.) |