rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110 2009
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 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
0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 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
0.760 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.760 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
GLIOBLASTOMA MULTIFORME, SOMATIC
CUI: C4016231
Disease: GLIOBLASTOMA MULTIFORME, SOMATIC
0.700 CausalMutation CLINVAR
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
0.700 CausalMutation CLINVAR
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE Multivariate analysis revealed age, Karnofsky performance score, extent of tumor resection, first-line treatment, year of diagnosis, and MGMT promoter methylation status were associated with survival in patients with IDH1(R132H) -nonmutant glioblastoma. 27088883 2016
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE Interestingly, non-p.R132H mutations segregate in distinct histological and molecular subtypes of glioma. 20077503 2010
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation UNIPROT
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE R132H mutation of isocitrate dehydrogenase 1 (IDH1) is found in ~75% of low-grade gliomas and secondary glioblastomas as well as in several other types of cancer. 29792149 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. 30760578 2019
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE <i>IDH1</i> mutations only affected brainstem gliomas (6/24 vs 0/78; <i>p</i> = 7.5 × 10<sup>-5</sup>), were mostly non-R132H (contrasting with hemispheric gliomas, <i>p</i> = 0.0001), and were associated with longer survival (54 vs 12 months). 29728520 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.800 GeneticVariation BEFREE We found that both low-grade and high-grade (i.e., GBM) IDH1 R132H gliomas exhibit low Fn14 mRNA and protein levels compared to IDH1 WT gliomas. 29453678 2018
Glioma
CUI: C0017638
Disease: Glioma
0.800 GeneticVariation BEFREE IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy in hypoxia. 24895549 2014