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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE We show that wild-type <i>IDH1</i> is essential for GC cell survival, and that certain GC cells can be targeted by IDH1 inhibitors. 31068366 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE We show that wild-type <i>IDH1</i> is essential for GC cell survival, and that certain GC cells can be targeted by IDH1 inhibitors. 31068366 2020
CUI: C4054891
Disease: Grade III Chondrosarcoma
Grade III Chondrosarcoma
0.010 Biomarker disease BEFREE Genomic Profiling Identifies Association of <i>IDH1/IDH2</i> Mutation with Longer Relapse-Free and Metastasis-Free Survival in High-Grade Chondrosarcoma. 31615936 2020
CUI: C4289691
Disease: Diffuse Astrocytoma, IDH-Wildtype
Diffuse Astrocytoma, IDH-Wildtype
0.010 GeneticVariation disease BEFREE Anaplastic astrocytoma, IDH-wildtype (AA-IDHwt) was the common molecular subgroup (52.8%), followed by diffuse astrocytoma, IDH-wildtype (DA-IDHwt) and AA, IDH-mutant (AA-IDHmt) (each 16.9%), DA-IDHmt (7.9%), glioblastoma (GBM)-IDHwt (3.3%) and GBM-IDHmt (2.2%). 31435963 2020
Anaplastic Astrocytoma, IDH-Wildtype
0.010 GeneticVariation disease BEFREE Anaplastic astrocytoma, IDH-wildtype (AA-IDHwt) was the common molecular subgroup (52.8%), followed by diffuse astrocytoma, IDH-wildtype (DA-IDHwt) and AA, IDH-mutant (AA-IDHmt) (each 16.9%), DA-IDHmt (7.9%), glioblastoma (GBM)-IDHwt (3.3%) and GBM-IDHmt (2.2%). 31435963 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE The IDP amyloid β-protein (Aβ) has been both the prime causative suspect and drug development target in the fight against Alzheimer's disease (AD). 31521233 2019
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
0.010 AlteredExpression disease BEFREE Chromatin immunoprecipitation experiments confirmed the recruitment of AR at several regulatory regions of <i>IDH1</i> and enzymatic assays demonstrated that AR significantly induces IDH activity. 31068457 2019
CUI: C0018834
Disease: Heartburn
Heartburn
0.010 Biomarker phenotype BEFREE An imaging biomarker combining tumor acidity and hypoxia (MTRasymxR2') can differentiate IDH1 mutation status and is correlated with tumor acidity and hypoxia. 31066901 2019
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
0.010 Biomarker group BEFREE IDP-73152 mesylate is a peptide deformylase inhibitor under investigation for the treatment of complicated skin and respiratory tract infections. 31440032 2019
CUI: C0153886
Disease: Acute myeloid leukemia in remission
Acute myeloid leukemia in remission
0.010 GeneticVariation disease BEFREE Monitoring for persistent <i>IDH1/2</i> mutations in patients with acute myeloid leukemia in remission can provide information that could be used to justify early interventions, with the hope of facilitating longer remissions and better outcomes in these patients. 30171025 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.010 Biomarker disease BEFREE Oxalomalate suppresses metastatic melanoma through IDH-targeted stress response to ROS. 31020875 2019
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
0.010 GeneticVariation disease BEFREE Nine PC samples (47%) harbored at least one potentially actionable genomic alteration including in the after genes: ROS1 (5/19; 26%), PTEN (3/19; 16%), TSC1 (2/19; 11%), PIK3CA (1/19; 5%), AKT1 (1/19; 5%), MTOR (1/19; 5%), ERBB2 (1/19; 5%), NTRK1 (1/19; 5%), IDH1 (1/19; 5%) and FGFR3 (1/19; 5%). 30362515 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE Targeting IDH1 as a Prosenescent Therapy in High-grade Serous Ovarian Cancer. 31110157 2019
Sinonasal undifferentiated carcinoma
0.010 GeneticVariation disease BEFREE Literature search revealed a virtual absence of IDH2 R172 and IDH1 R132S mutations in >1000 cases of 8 different malignancies included in the differential diagnosis of sinonasal undifferentiated carcinoma. 30206411 2019
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
0.010 Biomarker disease BEFREE The therapeutic landscape is rapidly changing, with eight new drugs approved by the Food and Drug Administration within the last 2 years, including midostaurin and gilteritinib for FLT3 mutant newly diagnosed and relapsed/refractory (R/R) acute myeloid leukemia (AML), respectively; CPX-351 (liposomal cytarabine and daunorubicin) for therapy-related AML and AML with myelodysplasia-related changes; gemtuzumab ozogamicin (anti-CD33 monoclonal antibody conjugated with calicheamicin) for newly diagnosed and R/R CD33-positive AML; enasidenib and ivosidenib for IDH2 and IDH1 mutant R/R AML, respectively. 30861214 2019
Acute myeloid leukemia with mutated NPM1
0.010 GeneticVariation disease BEFREE TET2 and IDH1/2 mutations were significantly more common in DN AML-NPM1 (96% of cases) than in myeloid (39%) or monocytic AML-NPM1 (48%; P < .0001). 31698462 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 GeneticVariation disease BEFREE Using targeted sequencing, we detected somatic mutation-related discordant breast cancer including the VHL gene in the HR+/HER2- group (31% in concordant group, 0% in discordant group, p=0.03) and the IDH and RET genes (7% vs. 12%, p=0.02 and 0% vs. 25%, p=0.02, respectively) in the TNBC group. 30189722 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.010 Biomarker disease BEFREE IMPLICATIONS: Inhibition of IDH1 may act as a novel therapeutic approach to alter both the metabolism and epigenetics of HGSC as a prosenescent therapy. 31110157 2019
Diffuse leptomeningeal glioneuronal neoplasm
0.010 GeneticVariation disease BEFREE This tumor showed genotypes frequently found in DLGNT such as 1p/19q codeletion without IDH mutation and, however, did not have the typical DLGNT clinical and histological features. 31011918 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE Targeting IDH1 as a Prosenescent Therapy in High-grade Serous Ovarian Cancer. 31110157 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 GeneticVariation disease BEFREE Using targeted sequencing, we detected somatic mutation-related discordant breast cancer including the VHL gene in the HR+/HER2- group (31% in concordant group, 0% in discordant group, p=0.03) and the IDH and RET genes (7% vs. 12%, p=0.02 and 0% vs. 25%, p=0.02, respectively) in the TNBC group. 30189722 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE In this study, the clinical impact of IDH1 expression on the progression and prognosis of breast cancer was evaluated using immunohistochemistry assay (IHC) of the corresponding tumor-adjacent normal, ductal carcinoma in situ (DCIS), and invasive ductal carcinoma (IDC) tissues from 309 patients with breast ductal carcinoma. 29661250 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 Biomarker disease BEFREE However, whether IDH1 play a role in metformin-induced endometrial cancer chemosensitivity through epigenetic modification is incompletely understood. 29921847 2018
Noninfiltrating Intraductal Carcinoma
0.010 AlteredExpression disease BEFREE In this study, the clinical impact of IDH1 expression on the progression and prognosis of breast cancer was evaluated using immunohistochemistry assay (IHC) of the corresponding tumor-adjacent normal, ductal carcinoma in situ (DCIS), and invasive ductal carcinoma (IDC) tissues from 309 patients with breast ductal carcinoma. 29661250 2018
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
0.010 GeneticVariation disease BEFREE In CHS, IDH1/2-mutation status and the histological aggressiveness of the CHS are important predictors for OS. 29581779 2018