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: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. 31240473 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease BEFREE Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. 30159860 2018
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. 29339836 2018
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. 27036230 2016
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease BEFREE Mutant IDH is sufficient to initiate enchondromatosis in mice. 25730874 2015
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. 26046462 2015
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively. 23801749 2013
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease GENOMICS_ENGLAND In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease CTD_human Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease CTD_human In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 SomaticCausalMutation disease ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 SomaticCausalMutation disease ORPHANET In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease GENOMICS_ENGLAND
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.790 Biomarker disease HPO
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE The review also focuses on the effect of 2-HG on glioma epigenetics, the cellular signaling involved in IDH1 mutant glioma cells and the therapeutic response seen in mutant IDH1(mIDH1) harboring glioma patients in comparison to the patients with wild-type IDH1. 31485826 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In this study, using bioinformatics algorithms, we examined the chemical relationships between the amino acid sequences of the complementarity-determining region-3 (CDR3) represented by immune receptors associated with lower grade glioma and isocitrate dehydrogenase-1 (IDH1) mutants. 31740784 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Ivosidenib (AG-120) is a targeted mutant IDH1 inhibitor under evaluation in a phase 1 dose escalation and expansion study of IDH1-mutant advanced solid tumors including cholangiocarcinoma, chondrosarcoma, and glioma. 31028664 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE IDH1/2 mutation status now represents the most important initial stratifier of diffuse gliomas in adults, although rarer subtypes within the IDH-wildtype category continue to be elucidated. 31678207 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE For patients with IDH mutant 1p/19q codeleted LGG tumors, there is limited evidence to support the use of TMZ. 31701682 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Blockade of glutathione metabolism in IDH1-mutated glioma. 31548295 2020
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease BEFREE Mutation of the isocitrate dehydrogenase (IDH) gene is regarded a novel indicator for the prognosis of patients with glioma. 31746408 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE From a phase 1 study of 258 patients with IDH1-mutant advanced hematologic malignancies, we report results for 34 patients with newly diagnosed acute myeloid leukemia (AML) ineligible for standard therapy who received ivosidenib 500 mg once daily. 31841594 2020