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

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.200 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.100 GeneticVariation disease BEFREE • Significant correlation exists between radiological parameters such as volumetric and ADC values and major genomic profiles such as IDH mutation and ATRX loss status • Radiological parameters such as the ADC value were feasible predictors of glioblastoma patients' prognosis • Imaging features can predict major genomic profiles of the tumours and the prognosis of glioblastoma patients. 29721688 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.400 GeneticVariation disease BEFREE • APT signals were significantly higher in IDH-wild type compared to IDH-mutant high-grade glioma. 31175415 2019
CUI: C4722099
Disease: High grade glioma
High grade glioma
0.100 GeneticVariation disease BEFREE • APT signals were significantly higher in IDH-wild type compared to IDH-mutant high-grade glioma. 31175415 2019
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE ZEB1 expression is increased in IDH1-mutant lower-grade gliomas. 27568035 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Young patients with IDH wild type astrocytomas and glioblastoma had better outcomes than reported historical controls. 31371189 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432 2009
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 Biomarker disease BEFREE Within the molecularly-defined IDH wild-type GBM cohort, younger patients had significantly more mutations in PDGFRA, PTPN11, SMARCA4, BRAF and TP53. 27579614 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.200 Biomarker disease BEFREE Within the molecularly-defined IDH wild-type GBM cohort, younger patients had significantly more mutations in PDGFRA, PTPN11, SMARCA4, BRAF and TP53. 27579614 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Within pGBIV, the rare subtype of IDH1 mutant tumors shared expression profiles with IDH1 mutant sGBIV and was associated with longer overall survival compared with IDH1 wild-type tumors. 20473936 2011
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease 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 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE With median follow-up of 8.3 months for 174 adults with IDH1-mutated R/R AML treated with 500 mg ivosidenib daily, the CR + CRh rate was 33% [95% confidence interval (CI), 26-40], median duration of response was 8.2 (95% CI, 5.6-12) months, and conversion from TD to TI occurred in 37% of patients. 30692099 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE With median follow-up of 8.3 months for 174 adults with IDH1-mutated R/R AML treated with 500 mg ivosidenib daily, the CR + CRh rate was 33% [95% confidence interval (CI), 26-40], median duration of response was 8.2 (95% CI, 5.6-12) months, and conversion from TD to TI occurred in 37% of patients. 30692099 2019
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant
0.100 GeneticVariation disease BEFREE With a long course of slowly progressing, this was a rare case of secondary glioblastoma with the absence of isocitrate dehydrogenase 1 (IDH1) gene mutation. 31555204 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE With a case control study in 285 gliomas, 316 healthy controls, 380 systemic cancers, 31 other CNS-tumors, and 120 IDH-mutant cartilaginous tumors, we identified that the association was specific to IDH-mutant gliomas. 27282637 2016
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.100 Biomarker disease BEFREE Wild-type (WT) IDH1 was detected in cases with a World Health Organization (WHO) grade I astrocytoma. 23934769 2014
CUI: C1704230
Disease: Grade I Astrocytoma
Grade I Astrocytoma
0.010 Biomarker disease BEFREE Wild-type (WT) IDH1 was detected in cases with a World Health Organization (WHO) grade I astrocytoma. 23934769 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.500 GeneticVariation disease BEFREE Widely metastatic IDH1-mutant glioblastoma with oligodendroglial features and atypical molecular findings: a case report and review of current challenges in molecular diagnostics. 30738431 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.200 GeneticVariation disease BEFREE Widely metastatic IDH1-mutant glioblastoma with oligodendroglial features and atypical molecular findings: a case report and review of current challenges in molecular diagnostics. 30738431 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.100 GeneticVariation disease BEFREE Widely metastatic IDH1-mutant glioblastoma with oligodendroglial features and atypical molecular findings: a case report and review of current challenges in molecular diagnostics. 30738431 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.100 GeneticVariation disease BEFREE Widely metastatic IDH1-mutant glioblastoma with oligodendroglial features and atypical molecular findings: a case report and review of current challenges in molecular diagnostics. 30738431 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Whole-genome sequencing identified a total of 55 coding mutations (range 8-32 mutations per tumor), including known abnormalities in IDH1, IDH2, CIC and FUBP1. 25694352 2015