Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) has recommended that isocitrate dehydrogenase 1 and 2 wildtype (IDH1/2wt) diffuse lower-grade gliomas (LGGs) WHO grade II or III that present with a) a telomerase reverse transcriptase promoter mutation (pTERTmt), and/or b) gain of chromosome 7 combined with loss of chromosome 10, and/or c) epidermal growth factor receptor (EGFR) amplification should be reclassified as diffuse astrocytic glioma, IDH1/2-wildtype, with molecular features of glioblastoma, WHO grade IV (IDH1/2wt astrocytomas WHO IV). 31637414 2019
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE Detection of mutations in the isocitrate dehydrogenase 1 (IDH1) gene is useful for accurate diagnosis of lower grade gliomas, as described in the 2016 World Health Organization classification of tumors of the central nervous system. 29460200 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group BEFREE This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. 30579273 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group BEFREE According to the 2016 World Health Organization Classification of Tumors of the Central Nervous System (2016 CNS WHO), IDH-mutant astrocytic gliomas comprised WHO grade II diffuse astrocytoma, IDH-mutant (AII<sub>IDHmut</sub>), WHO grade III anaplastic astrocytoma, IDH-mutant (AAIII<sub>IDHmut</sub>), and WHO grade IV glioblastoma, IDH-mutant (GBM<sub>IDHmut</sub>). 29687258 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE With the advent of molecular genetics, molecular diagnostic testing has been added to histological evaluation in the armamentarium of the pathologist, and the recent World Health Organization (WHO) Classification of Tumors of the Central Nervous System encourages testing for isocitrate dehydrogenase (IDH) gene status in the classification of diffuse astrocytic gliomas. 29548048 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE The recent 2016 WHO classification for CNS tumors categorizes diffuse glioma into two major types that include IDH wild-type glioblastoma, which is the predominant type and IDH-mutant glioblastoma, which is less common and displays better prognosis. 28730141 2017
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group BEFREE The "integrated diagnosis" for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion. 28255664 2017
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE There is growing interest in identification of diagnostic, prognostic or predictive blood biomarkers in CNS tumor patients, and emerging studies indicate that certain brain tumors are indeed associated with distinct profiles of circulating factors such as proteins (e.g., glial fibrillary acidic protein), DNA fragments (e.g., containing mutated IDH) or miRNAs (e.g., miRNA-21). 23547822 2013
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 AlteredExpression group BEFREE Direct DNA sequencing, western blot, and immunohistochemistry were used to detect IDH1 mutation and IDH1 gene expression levels in 97 cases of glioma and 9 cases of other CNS tumors. 22113362 2012
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 Biomarker group BEFREE Here we investigate the capability of this antibody to differentiate wild type and mutated IDH1 protein in central nervous system (CNS) tumors by Western blot and immunohistochemistry. 19903171 2010
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group BEFREE We determined the sequence of the IDH1 gene and the related IDH2 gene in 445 central nervous system (CNS) tumors and 494 non-CNS tumors. 19228619 2009