rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE For this reason, it was suggested that immunohistochemistry against IDH1 R132H is sufficient to classify GBM as IDH wild-type in this age group. 31758617 2020
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. 30760578 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Mutations in the isocitrate dehydrogenase (IDH) 1 gene are commonly found in human glioma, with the majority of low-grade gliomas harboring a recurrent point mutation (IDH1 R132H). 31768950 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Isocitrate dehydrogenase (IDH) is mutated in >80% of lower-grade infiltrating gliomas in adults and in ~10% of glioblastomas, with IDH1 (R132H) being the most common mutation. 30221786 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE We analyzed patients with newly diagnosed GBM and excluded patients who presented with IDH1 R132H mutations. 29617848 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Additionally, 5-aza enhances the therapeutic effect of the DNA damaging agent TMZ in both subcutaneous and orthotopic PDX models of IDH1 R132H mutant glioma. 30184215 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE CRISPR Editing of Mutant IDH1 R132H Induces a CpG Methylation-Low State in Patient-Derived Glioma Models of G-CIMP. 31292202 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030). 31667733 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE In 1 case, an IDH1 R132H-mutant glioma was misdiagnosed as a demyelinating condition by frozen section histology during the intraoperative consultation, and no resection was performed pending the final pathology report. 30611146 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE R132H mutation of isocitrate dehydrogenase 1 (IDH1) is found in ~75% of low-grade gliomas and secondary glioblastomas as well as in several other types of cancer. 29792149 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE <i>IDH1</i> mutations only affected brainstem gliomas (6/24 vs 0/78; <i>p</i> = 7.5 × 10<sup>-5</sup>), were mostly non-R132H (contrasting with hemispheric gliomas, <i>p</i> = 0.0001), and were associated with longer survival (54 vs 12 months). 29728520 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE We found that both low-grade and high-grade (i.e., GBM) IDH1 R132H gliomas exhibit low Fn14 mRNA and protein levels compared to IDH1 WT gliomas. 29453678 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE These results support a role for Fn14 in the more aggressive and invasive phenotype associated with IDH1 WT tumors and indicate that the low levels of Fn14 gene expression noted in IDH1 R132H mutant gliomas may be due to epigenetic regulation via changes in DNA methylation. 29453678 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947 2018
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.800 GeneticVariation BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE This novel series of IDH1(R132H) inhibitors have potential to be further developed for the treatment of glioma with IDH1 mutation. 29792149 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Low-grade gliomas (WHO II/III) had lower xCT expression than glioblastoma (p = 0.001), and tumors without IDH1 R132H mutation tended to have higher xCT levels (p = 0.07). 29404978 2018
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.800 GeneticVariation BEFREE In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Mutation of the isocitrate dehydrogenase 1 (IDH1) gene at codon 132 has been identified in approximately 70% of low-grade (II and III) human gliomas and secondary glioblastomas, with the IDH1 R132H point mutation representing 92.7% of these mutations. 30502793 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Patients/Methods In a prospective cohort study, intratumoral IDH1 R132H mutation and podoplanin were determined in brain tumor specimens (mainly glioma) by immunohistochemistry. 29676036 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines with upregulated HIF-1α expression, downregulating c-MYC activity and resulting in a consequential decrease in miR-20a, which is responsible for cell proliferation and resistance to standard temozolomide treatment. 29625108 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Sequencing for rare IDH mutations is advised for A,NOS and OA,NOS groups, but not for the IDH1(R132H)-non-mutant diffuse gliomas with 1p/19q co-deletion. 28801347 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Recurrent heterozygous mutation of isocitrate dehydrogenase 1 gene (<i>IDH1</i>), predominantly resulting in histidine substitution at arginine 132, was first identified in glioma. 30416682 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1-R132H) is associated with better prognosis in glioma patients. 29115585 2018