Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE Rapid progression to glioblastoma in a subset of IDH-mutated astrocytomas: a genome-wide analysis. 28421459 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 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 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease UNIPROT IDH2 mutation in gliomas including novel mutation. 25495392 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 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 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 Biomarker disease BEFREE We raise the question whether IDH-wild type high grade astrocytomas without microvascular proliferation or necrosis might best be classified as GBM, even if they lack the histologic hallmarks as required in the current WHO classification. 25943888 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE In patients with astrocytoma, the TERT promoter mutations only associated with poor survival (P < 0.0001); IDH mutations and 1p/19q deletions associated with increased survival (P = 0.0004). 25797251 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE Those astrocytomas without IDH mutation tend to have a distinct genotype and a poor prognosis comparable to that of glioblastomas. 25975377 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 Biomarker disease BEFREE Adult IDH wild type astrocytomas biologically and clinically resolve into other tumor entities. 26087904 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease 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
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE These findings suggest that CDKN2A testing may provide further clinical aid in lower-grade glioma substratification beyond IDH mutation and 1p19q codeletion status, particularly in IDH/TP53 mutated astrocytomas. 25853694 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE IDH1 and IDH2 are mutated in 50%-80% of astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas but are seldom mutated in primary glioblastomas. 23877318 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas. 24532263 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 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: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 Biomarker disease BEFREE Mutations in the isocitrate dehydrogenase (IDH) genes occur frequently in low-grade astrocytomas and oligodendrogliomas (World Health Organization [WHO] grade II), and in higher-grade gliomas (WHO grades III and IV) that arise after malignant progression of low-grade tumors. 23909061 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE IDH1 codon 132 and IDH2 codon 172 mutation status were determined by direct sequencing for a retrospective series of 100 patients with histologically diagnosed Astrocytomas WHO Grad II (A II), and investigated for association with patient outcome. 22528790 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE The association between TP53 and IDH mutation was significant in diffuse astrocytomas (P = 0.0018). 22136423 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE IDH mutation and neuroglial developmental features define clinically distinct subclasses of lower grade diffuse astrocytic glioma. 22415316 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE IDH mutations as an early and consistent marker in low-grade astrocytomas WHO grade II and their consecutive secondary high-grade gliomas. 22410704 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation. 22922872 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE Mutations of the isocitrate dehydrogenase (IDH) metabolic enzymes IDH1 and IDH2 have been found to be frequent and early genetic alterations in astrocytomas and oligodendrogliomas. 19996293 2010
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase enzyme isoforms 1 (IDH1) and 2 (IDH2) have been identified in many adult astrocytomas and oligodendrogliomas. 19915484 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE IDH1 mutations were present in 86% of the 49 progressive astrocytomas.No mutations in IDH2 were found. 19933982 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE Astrocytomas WHO grade II exhibited IDH1 mutations in 38 cases (76%) but neither IDH2 mutations nor BRAF fusions. 19543740 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease BEFREE We found 165 IDH1 (72.7%) and 2 IDH2 mutations (0.9%) in 227 diffuse astrocytomas WHO grade II, 146 IDH1 (64.0%) and 2 IDH2 mutations (0.9%) in 228 anaplastic astrocytomas WHO grade III, 105 IDH1 (82.0%) and 6 IDH2 mutations (4.7%) in 128 oligodendrogliomas WHO grade II, 121 IDH1 (69.5%) and 9 IDH2 mutations (5.2%) in 174 anaplastic oligodendrogliomas WHO grade III, 62 IDH1 (81.6%) and 1 IDH2 mutations (1.3%) in 76 oligoastrocytomas WHO grade II and 117 IDH1 (66.1%) and 11 IDH2 mutations (6.2%) in 177 anaplastic oligoastrocytomas WHO grade III. 19554337 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 GeneticVariation disease UNIPROT IDH1 and IDH2 mutations in gliomas. 19228619 2009