Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
0.030 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
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
0.030 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
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
0.030 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