rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.050 GeneticVariation BEFREE En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. 27153165 2017
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.050 GeneticVariation BEFREE In malignant glioma the presence of the IDH1 mutation (IDH1(R132H)) is associated with better clinical outcome. 26328938 2015
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.050 GeneticVariation BEFREE Isocitrate dehydrogenase 1 gene (IDH1) R132H mutation status was also recently identified as a prognostic factor for malignant gliomas. 24929863 2014
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.050 GeneticVariation BEFREE We highlight the importance of Sox11 expression as a favourable prognosticator in glioblastomas. c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgroups of malignant glioma. 23619925 2013
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.050 GeneticVariation BEFREE Of 158 tumors with sufficient tissue, 110 (70 %) showed nuclear cMYC immunopositivity--most frequent (95 %, χ(2) p = 0.0248) and intense (mean 1.33, ANOVA p = 0.0179) in anaplastic astrocytomas versus glioblastomas (63 %) or low grade gliomas (74 %). cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) and mutant IDH1 (R132H) (OR = 7.4, p = 0.06) among malignant gliomas in our cohort. 23934175 2013