rs55819519, TP53

N. diseases: 40
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.040 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
0.040 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
0.040 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
0.040 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