Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) are found in 6% of AML patients. 31586149 2020
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE The combination of NPM1, DNMT3A, and IDH1/2 mutations leads to inferior overall survival in AML. 31145495 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE NPM1, DNMT3A, and IDH2 mutations were more common while biallelic CEBPA and IDH1 mutations were less seen in e-AML patients. s-AML patients carried a higher frequency of KMT2A-AF9. 31348835 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: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Beyond Brooding on Oncometabolic Havoc in IDH-Mutant Gliomas and AML: Current and Future Therapeutic Strategies. 29439493 2018
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE This analysis defines the clinical outcome associated with IDH-mutations in both the front-line and salvage AML treatment settings, and confirms that response rate and OS for both IDH-mutated and IDH wild-type AML patients is comparable. 26016821 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Impact of Chemotherapy Delay on Overall Survival for AML with IDH1/2 Mutations: A Study in Adult Chinese Patients. 26466372 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE We retrospectively identified forty-two patients with AML treated with DNA methyltransferase inhibitors (DNMTIs) decitabine (n = 36) or azacitidine (n = 6) and performed analysis of stored samples for the presence of IDH1 and IDH2 mutations. 25651001 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE In conclusion, our study showed a high frequency of FLT3, RUNX1, and IDH mutations in AML-M0, suggesting that these mutations played a role in the pathogenesis and served as potential therapeutic targets in this rare and unfavorable subtype of AML. 25022553 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Mutant IDH1 promotes leukemogenesis in vivo and can be specifically targeted in human AML. 23954893 2013
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Both patients with IDH1 mutations had AML-M0 subtype and MLL-partial tandem duplication. 23365461 2013
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE IDH aberrations and IDH1 codon 105 SNP occur in about 30% of younger patients with AML, mostly with diploid karyotype. 22020636 2012
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE A high MEBE score, defined as high expression of at least two of the four genes, predicted a significantly shorter overall survival (OS) (HR 2.29, 95 % CI 1.3-4.09, P= .005) and time to AML progression (HR 4.83, 95 % CI 2.01-11.57, P< .001) compared to a low MEBE score in multivariate analysis independent of karyotype, percentage of bone marrow blasts, transfusion dependence, ASXL1, and IDH1 mutation status. 22488406 2012
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 AlteredExpression disease BEFREE Analysis of primary leukemic blasts confirmed high levels of 2-HG in AMLs with IDH1/IDH2 mutations. 21647154 2011
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE IDH1 SNP rs11554137 was recently reported in association with poor prognosis in normal karyotype adult acute myeloid leukemia (AML). 21873548 2011
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 Biomarker disease BEFREE Mutations in the NADP(+)-dependent isocitrate dehydrogenase genes 1 and 2 (IDH1 and IDH2) have recently been found in adult acute myeloid leukemia (AML) patients with a prevalence rising up to 33%. 21647152 2011
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Furthermore, AML patients with IDH mutations display a significantly reduced number of other well characterized AML-associated mutations and/or associated chromosomal abnormalities, potentially implicating IDH mutation in a distinct mechanism of AML pathogenesis. 20171147 2010
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.100 GeneticVariation disease BEFREE Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study. 20376086 2010