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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE However, a few published articles have been controversial regarding the association between <i>IDH1/IDH2</i> mutation status and clinical outcomes in chondrosarcomas. 31615936 2020
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Robust, persistent plasma 2-HG inhibition was observed in IDH1-mutant cholangiocarcinoma and chondrosarcoma. 31028664 2020
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE Mutant IDH1-mediated modulation of SOX9 and CDKN1C expression regulated chondrosarcoma tumor progression, and DS-1001b upregulated the expression of these genes via a common mechanism involving the demethylation of H3K9me3. 31406254 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE The low rate of IDH mutations observed in laryngotracheal chondrosarcomas suggests a different mode of tumorigenesis needing further exploration. 30296521 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Targeting glutaminolysis in chondrosarcoma in context of the IDH1/2 mutation. 29576625 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) drive most low-grade gliomas and secondary glioblastomas and many chondrosarcomas and acute myeloid leukemia cases. 30249606 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. 29581779 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE IDH1/2 mutations were detected in 87% (20/23) of dedifferentiated chondrosarcomas and 30% (6/20) of conventional chondrosarcomas. 28552826 2017
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Mutations in IDH1/2, present in more than 50% of primary conventional chondrosarcomas, make the development of IDH inhibitors a promising treatment option. 28133974 2017
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Recurrent mutations in IDH1 or IDH2 are prevalent in several cancers including glioma, acute myeloid leukemia (AML), cholangiocarcinoma and chondrosarcoma. 27355333 2016
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE A recent comprehensive study has identified the isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations in conventional central and periosteal cartilaginous tumors, and it has subsequently been analyzed in intracranial chondrosarcoma and chondroma, including chondroma of the convexity dura mater. 27461824 2016
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. 25730874 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE Specific point mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in a variety of cancers, including acute myeloid leukemia (AML), low-grade gliomas, and chondrosarcomas. 25956465 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines. 25895133 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Although the mutation frequency of IDH1 was low, we confirm the supposed relationship with central chondrosarcoma. 25648524 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas. 25432631 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE We sought to determine if treatment with AGI-5198 would similarly inhibit tumorigenic activity and D-2HG production in IDH1-mutant human chondrosarcoma cells. 26368816 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed that the process of accumulation of somatic mutations is homogeneous irrespective of the pathological subtype or the presence of IDH1 mutations, is unique among a range of cancer types, and shares significant commonalities with that of prostate cancer. 25024164 2014
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE IDH1/2 mutation analysis appears to be a promising biomarker for the distinction of chondrosarcoma from chondroblastic osteosarcoma. 23598960 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2. 24065766 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Isocitrate dehydrogenase (IDH) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and chondrosarcoma (CS). 23863747 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 Biomarker disease BEFREE Mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) are frequently found in glioma, acute myeloid leukemia (AML), melanoma, thyroid cancer, and chondrosarcoma patients. 23954893 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Our data suggest that the IDH1/2 mutation status could be valuable for distinguishing intracranial chondrosarcomas from chordomas. 22323113 2012
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.200 GeneticVariation disease BEFREE Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. 22057234 2011