rs1034749666, OLIG2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE The tumor was positive for OLIG2 and GFAP and negative for BRAF V600E and IDH1 R132H mutant protein immunostains. 29141672 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE To understand the effects of tumor-associated mutant <i>IDH1</i> (IDH1-R132H) on both the neural stem cell (NSC) population and brain tumorigenesis, genetically faithful cell lines and mouse model systems were generated. 28148827 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE Within proneural subclass tumors, high PROM1 expression correlates inversely with IDH1 (R132H) mutation. 25184684 2014
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.010 GeneticVariation BEFREE They retain immunoreactivity to alpha thalassemia/mental retardation syndrome X-linked, are immunonegative to isocitrate dehydrogenase-1 R132H mutation, and only occasionally show MGMT promoter hypermethylation differentiating them from many diffuse gliomas. 27416954 2017
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE This case suggests that 1p/19q co-deletion may rarely precede IDH1 mutations or that IDH1 mutations may be secondarily lost, as demonstrated by IDH1-R132H positive and negative cells in a glioma with diffuse 1p/19q co-deletion. 25907263 2016
Hurthle Cell Tumor
CUI: C0949541
Disease: Hurthle Cell Tumor
0.010 GeneticVariation BEFREE We investigated 7 spindle cell oncocytomas, 4 pituicytomas, and 3 granular cell tumors for their genetic (BRAF(V600E) mutation and BRAF-KIAA fusion), immunohistochemical (GFAP, vimentin, S100 protein, olig2, IDH1-R132H, NF, galectin-3, chromogranin-A, CD56, EMA, CAM5.2, CD68, TTF-1, and bcl-2), and ultrastructural features to refine their classification. 23887161 2013
Well Differentiated Oligodendroglioma
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
0.010 GeneticVariation BEFREE Molecular cytogenetic analyses demonstrated chromosomal losses of 1p and 19q and a mutation of isocitrate dehydrogenase 1 (G395A, R132H) in both the oligodendroglioma and gangliocytoma areas. 24054724 2013
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
0.010 GeneticVariation BEFREE Molecular cytogenetic analyses demonstrated chromosomal losses of 1p and 19q and a mutation of isocitrate dehydrogenase 1 (G395A, R132H) in both the oligodendroglioma and gangliocytoma areas. 24054724 2013
Ganglioneuroma
CUI: C0017075
Disease: Ganglioneuroma
0.010 GeneticVariation BEFREE Molecular cytogenetic analyses demonstrated chromosomal losses of 1p and 19q and a mutation of isocitrate dehydrogenase 1 (G395A, R132H) in both the oligodendroglioma and gangliocytoma areas. 24054724 2013
Adult Oligodendroglioma
CUI: C0279070
Disease: Adult Oligodendroglioma
0.010 GeneticVariation BEFREE Molecular cytogenetic analyses demonstrated chromosomal losses of 1p and 19q and a mutation of isocitrate dehydrogenase 1 (G395A, R132H) in both the oligodendroglioma and gangliocytoma areas. 24054724 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
0.010 GeneticVariation BEFREE Molecular cytogenetic analyses demonstrated chromosomal losses of 1p and 19q and a mutation of isocitrate dehydrogenase 1 (G395A, R132H) in both the oligodendroglioma and gangliocytoma areas. 24054724 2013