Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 CausalMutation group CGI
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE IDH1 mutations have been described in an array of hematologic malignancies and solid tumors. 29670690 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group 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
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE Inhibition of mutant IDH shows promise as a treatment approach in hematologic malignancies, with further development ongoing in solid tumors and glioma. 27005468 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE Mutations in the IDH1 and IDH2 (isocitrate dehydrogenase) genes have been discovered across a range of solid-organ and hematologic malignancies, including acute myeloid leukemia, glioma, chondrosarcoma, and cholangiocarcinoma. 24760710 2014
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE Other than brain tumor or hematologic malignancies, intrahepatic cholangiocarcinoma (iCC) is a well-known solid tumor with IDH1 mutation (6.8-20%). 28403884 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE Since 2013, several mutant IDH-targeted inhibitors have been developed, and nearly a dozen clinical trials have opened specifically for IDH-mutant hematologic malignancies. 29064021 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 Biomarker group BEFREE Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. 20538800 2010
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. 27591990 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 Biomarker group BEFREE The importance of the TET-mediated cytosine demethylation pathway is also underscored by a recurrent mutation of isocitrate dehydrogenase 1 (IDH1) and IDH2 in hematological malignancies, whose mutation inhibits TET function through a novel oncometabolite, 2-hydroxyglutarate. 25040794 2014
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE The mutations of isocitrate dehydrogenase 1 (IDH1) gene have been identified in a proportion of hematologic malignancies including acute myeloid leukemia (AML). 21539821 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 Biomarker group BEFREE The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. 21997850 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE These findings supported initiation of the ongoing clinical trials of AG-221 in patients with <i>IDH2</i> mutation-positive advanced hematologic malignancies.<b>Significance:</b> Mutations in <i>IDH1/2</i> are identified in approximately 20% of patients with AML and contribute to leukemia via a block in hematopoietic cell differentiation. 28193778 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 Biomarker group BEFREE URGENTseq enables the reporting of selected genes useful for immediate diagnosis (CALR, CSF3R, JAK2, KRAS, MPL, NPM1, NRAS, SF3B1) and treatment decisions (IDH1, IDH2) in hematologic malignancies within 48 hours of specimen collection. 30577887 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.400 GeneticVariation group BEFREE We here summarize the basic physiology of IDH, the metabolic and oncogenic consequences of mutant IDH1/2, and the clinical significance of IDH inhibition in hematologic malignancies. 28315358 2017