rs121913499, IDH1

N. diseases: 51
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. 22057236 2011
Hemangioma
CUI: C0018916
Disease: Hemangioma
0.020 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 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
Enchondroma
CUI: C1704356
Disease: Enchondroma
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
Vascular lesions
CUI: C1402315
Disease: Vascular lesions
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 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
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 GeneticVariation BEFREE The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffuse gliomas or AML, accounted for 40% of these mutations. 22323113 2012
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
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.710 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490 2012
Chondrosarcoma
CUI: C0008479
Disease: Chondrosarcoma
0.010 GeneticVariation BEFREE Of the 13 chondrosarcomas analyzed, six (46.1%) displayed IDH1/2 mutations (the predominant type was IDH1 R132C). 22323113 2012
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE This is the first report to establish anti-IDH1-R132G-specific mAbs, which is useful in immunohistochemistry of IDH1-R132G-bearing tumors. 23485467 2013