rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE The reported two cases were initially diagnosed as oligodendroglioma with 1p/19q-codeletion and mutation of <i>isocitrate dehydrogenase 1 (IDH1)</i>-R132H. 31508376 2019
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE The histopathological findings of his surgical specimen revealed characteristics of a low-grade glioma with an IDH1 c.395G>A (R132H) mutation and 1p/19q codeletion, which led to a definitive diagnosis of oligodendroglioma. 29224049 2018
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3). 28851427 2017
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE IDH1(R132) mutation was most frequent in oligodendrogliomas (57/62, 91.9%), with IDH1(R132H) mutation as the most frequent mutation form. 27780605 2016
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE To investigate the relationship between 3 hypoxic markers, carbonic anhydrase-9 (CA-9), hypoxia-inducible factor (HIF)-1α, and HIF-2α and the traditional genetic markers, deletions of chromosomes 1p and 19q and Isocitrate dehydrogenase 1 (IDH1) R132H mutation in oligodendrogliomas. 26960282 2016
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE IDH1-R132H and 1p19q loss were found only in 12 out of the 13 oligodendrogliomas (P<0.0001). 27389560 2016
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma. 26757882 2016
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation 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. 25427834 2015
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH1-R132H or IDH2-R172K). 25277207 2014
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE In summary, oligodendrogliomas with classic histology occur in the pediatric population but lack 1p19q codeletion and IDH1 (R132H) mutations in most instances. 24805856 2014
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE We present 9 pediatric cases of such diffuse leptomeningeal neuroepithelial tumors (DLNT), 8 with assessment of 2 common genetic alterations seen in oligodendrogliomas, 1p and 19q chromosomal deletions and isocitrate dehydrogenase-1 (IDH1) R132H mutations. 23588371 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R132H. 23527265 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG. 24252742 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation 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). 23934175 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.100 GeneticVariation BEFREE The mutation analysis performed on the latter case with DNA separately sampled from the oligodendroglioma- like area and the astrocytoma-like area detected IDH1 G395A in both areas. 22385787 2012