rs121913499, IDH1

N. diseases: 51
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation UNIPROT
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.710 GeneticVariation UNIPROT
melanoma
CUI: C0025202
Disease: melanoma
0.020 GeneticVariation BEFREE Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one). 30003571 2018
Hemangioma
CUI: C0018916
Disease: Hemangioma
0.020 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Neoplasms, Vascular Tissue
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
0.010 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). 31240473 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). 31240473 2019
melanoma
CUI: C0025202
Disease: melanoma
0.020 GeneticVariation BEFREE A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung. 20603105 2010
Secondary malignant neoplasm of lung
0.010 GeneticVariation BEFREE A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung. 20603105 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation. 23358936 2013
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.010 GeneticVariation BEFREE By screening dozens of reported natural compounds using both wild-type and mutant IDH1 enzymatic assays, we discovered Licochalcone A is a selective inhibitor to the R132C-mutant IDH1 with an IC<sub>50</sub> value of 5.176 μM, and inhibits the proliferation of sarcoma HT-1080 cells with an IC<sub>50</sub> value of 10.75 μM. 31836442 2020
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE By screening dozens of reported natural compounds using both wild-type and mutant IDH1 enzymatic assays, we discovered Licochalcone A is a selective inhibitor to the R132C-mutant IDH1 with an IC<sub>50</sub> value of 5.176 μM, and inhibits the proliferation of sarcoma HT-1080 cells with an IC<sub>50</sub> value of 10.75 μM. 31836442 2020
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 21352804 2011
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML. 20946881 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 GeneticVariation BEFREE Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML. 20946881 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML. 20946881 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML. 20946881 2010
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation BEFREE For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1). 22396072 2012
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.710 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.010 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.010 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
Adult Fibrosarcoma
CUI: C0278595
Disease: Adult Fibrosarcoma
0.010 GeneticVariation BEFREE Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential. 22885298 2012
Fibrosarcoma
CUI: C0016057
Disease: Fibrosarcoma
0.010 GeneticVariation BEFREE Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential. 22885298 2012