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
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110 2009
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110 2009
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432 2009
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.020 GeneticVariation BEFREE Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. 19340432 2009
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. 19117336 2009
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
0.010 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009
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 GeneticVariation BEFREE IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). 20410924 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 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 The IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrate, and increases the affinity for NADPH and alpha-KG. 20142433 2010
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
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
Secondary malignant neoplasm of lung
CUI: C0153676
Disease: 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
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.010 GeneticVariation BEFREE IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). 20410924 2010
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.010 GeneticVariation BEFREE IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). 20410924 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.740 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 21352804 2011
Glioma
CUI: C0017638
Disease: Glioma
0.720 GeneticVariation BEFREE We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis of mutation-bearing gliomas. 21352804 2011