PedAM
Pediatric Disease Annotations & Medicines
| glioblastoma | ||||
| Disease ID | 183 |
|---|---|
| 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:8) C0006118 | brain tumor | 5 C0029132 | optic neuropathy | 2 C0017638 | glial tumors | 2 C0009450 | infection | 2 C0014544 | epilepsy | 2 C0684550 | spinal metastases | 2 C0948008 | ischemic stroke | 1 C1527311 | brain edema | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:109) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:1) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 5 | 80719125 | rs7732320 | C | T | rs7732320 | 22472174 | 1.00E-06 | NA | 1.64 | [1.34-2.00] | 315 European ancestry cases | European(315) | ALL(315) | EUR(315) | ALL(315) | Glioblastoma | HPOID:0100843 | Glioblastoma | DOID:0060108 | brain glioma | D005909 | Glioblastoma | NA | NA | Malignant glioma | Brain disease | rs7732320-T | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:20) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0017636 | arsenic trioxide | C006632 | 1327-53-3 | glioblastoma | MESH:D005909 | therapeutic | 23440206 | ||
| C0017636 | bortezomib | D000069286 | - | glioblastoma | MESH:D005909 | therapeutic | 18771084 | ||
| C0017636 | capsaicin | D002211 | 404-86-4 | glioblastoma | MESH:D005909 | therapeutic | 18405923 | ||
| C0017636 | carmustine | D002330 | 154-93-8 | glioblastoma | MESH:D005909 | therapeutic | 10773252 | ||
| C0017636 | chloroquine | D002738 | 1954/5/7 | glioblastoma | MESH:D005909 | therapeutic | 15727424 | ||
| C0017636 | crizotinib | C551994 | - | glioblastoma | MESH:D005909 | therapeutic | 22162573 | ||
| C0017636 | cisplatin | D002945 | 15663-27-1 | glioblastoma | MESH:D005909 | therapeutic | 15603970 | ||
| C0017636 | fluconazole | D015725 | 86386-73-4 | glioblastoma | MESH:D005909 | therapeutic | 18398572 | ||
| C0017636 | gefitinib | C419708 | 184475-35-2 | glioblastoma | MESH:D005909 | therapeutic | 18771084 | ||
| C0017636 | indomethacin | D007213 | 53-86-1 | glioblastoma | MESH:D005909 | therapeutic | 12870263 | ||
| C0017636 | melphalan | D008558 | 148-82-3 | glioblastoma | MESH:D005909 | therapeutic | 18584351 | ||
| C0017636 | mitomycin | D016685 | 1950/7/7 | glioblastoma | MESH:D005909 | therapeutic | 15655414 | ||
| C0017636 | paclitaxel | D017239 | - | glioblastoma | MESH:D005909 | therapeutic | 17701358 | ||
| C0017636 | temozolomide | C047246 | 85622-93-1 | glioblastoma | MESH:D005909 | therapeutic | 15570079 | ||
| C0017636 | temsirolimus | C401859 | - | glioblastoma | MESH:D005909 | therapeutic | 21267448 | ||
| C0017636 | teniposide | D013713 | 29767-20-2 | glioblastoma | MESH:D005909 | therapeutic | 20221717 | ||
| C0017636 | thalidomide | D013792 | 50-35-1 | glioblastoma | MESH:D005909 | therapeutic | 14654909 | ||
| C0017636 | tretinoin | D014212 | 302-79-4 | glioblastoma | MESH:D005909 | therapeutic | 17312396 | ||
| C0017636 | valproic acid | D014635 | 99-66-1 | glioblastoma | MESH:D005909 | therapeutic | 19239041 | ||
| C0017636 | vindesine | D014751 | 53643-48-4 | glioblastoma | MESH:D005909 | therapeutic | 7438126 | ||
FDA approved drug and dosage information(Total Drugs:4) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D005909 | temodar | temozolomide | 5MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D005909 | temodar | temozolomide | 100MG/VIAL | POWDER;INTRAVENOUS | Prescription | None | Yes | Yes |
| MESH:D005909 | torisel | temsirolimus | 25MG/ML (25MG/ML) | SOLUTION;INTRAVENOUS | Prescription | None | Yes | Yes |
| MESH:D005909 | velcade | bortezomib | 3.5MG/VIAL | INJECTABLE;INTRAVENOUS, SUBCUTANEOUS | Prescription | None | Yes | Yes |
FDA labeling changes(Total Drugs:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D005909 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
| MESH:D005909 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
| MESH:D005909 | 05/30/2012 | torisel | temsirolimus | Advanced recurrent/refractory solid tumors | Effectiveness in pediatric patients has not been established Torisel was studied in 59 patients 1 - 17 years and 12 patients 18 to 21 years in a phase 1-2 safety and exploratory pharmacodynamic study Adverse reactions were similar to those observedd in adults Information on dosing, clinical trials and PK parameters | Labeling | B | - | - | - | - | - | FALSE' |
| MESH:D005909 | 09/14/2015 | velcade | bortezomib | Relapsed Acute Lymphoblastic Leukemia (ALL) and Lymphoblastic Lymphoma (LL) | Effectiveness in pediatric patients with relapsed pre-B ALL has not been established. The activity and safety of Velcade in combination with intensive reinduction chemotherapy was evaluated in pediatric and young adult patients with lymphoid malignancies. There were 140 patients with ALL or LL enrolled and evaluated for safety. No new safety concerns were observed | Labeling | B | - | - | - | Millennium Pharmaceuticals, Inc. | - | FALSE |