IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Childhood Astrocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE This data poses a substantial challenge for the current practice of astrocytoma grading and risk stratification and is likely to have far-reaching consequences on the management of patients with IDH-mutant astrocytoma. 25962792 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 AlteredExpression disease BEFREE CXCR7 was overexpressed in astrocytoma and correlates with CXCR4 and IDH1 in AGII and CXCR4, IDH1 and HIF1α in GBM. 24970694 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE We analyzed markers, including IDH mutation(IDHmut), 1p19q codeletion(1p19qcodel), ATRX expression loss(ATRX loss) and p53 overexpression, and outcomes in 159 patients with WHO grade II oligodendroglioma, oligoastrocytoma, and astrocytoma (2003-2012). 26210286 2015
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE In non 1p/19q codeleted LGGs, we demonstrated that (i) 11p loss is associated with astrocytoma phenotype and has an independent negative prognostic value, and (ii) 19q loss diminished the favorable prognostic value of IDH mutation. 24335697 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 AlteredExpression disease BEFREE These results suggest that nestin level and IDH 1/2 mutation status are strong prognostic features in A+OA II-III and possibly more helpful for treatment planning than routine histopathological variables such as oligodendroglial component (astrocytoma vs. oligoastrocytoma) and WHO grade (grade II vs. III). 24519516 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769 2014
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE IDH1 mutations occurred frequently in low grades of astrocytoma. 22772731 2012
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 AlteredExpression disease BEFREE Our study validates IDH1 mutant protein expression across various grades of astrocytoma, and demonstrates a high incidence of IDH1 mutations in DA, AA, and secondary GBM. 22904127 2012
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 Biomarker disease BEFREE In this study, we assessed the status of p53, IDH1/2, and chromosome 7 to determine the most useful panel to distinguish astrocytoma from astrocytosis. 21343879 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE IDH1 sequencing and loss of heterozygosity analysis was performed for 15 surgery samples of astrocytoma and early and late passages of cells derived from those and for 11 archival samples. 21326241 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE IDH1/2 mutations were associated with prolonged overall survival in the whole series of patients exclusive of pilocytic astrocytoma (P<0.001), WHO grade Ⅱ patients who received no adjuvant therapy after surgery (P=0.014) and WHO grade Ⅲ patients who received concomitant chemoradiotherapy (standard schedule) after surgery (P=0.033). 21874255 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.100 GeneticVariation disease BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009