IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Childhood Pleomorphic Xanthoastrocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.050 GeneticVariation disease BEFREE All PXA in this cohort were IDH and histone H3 wildtype, and did not contain alterations in EGFR. 30051528 2019
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.050 GeneticVariation disease BEFREE Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma Grade III Sharing IDH1 R132H Mutation. 29859360 2018
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.050 Biomarker disease BEFREE Immunohistochemical and molecular biological assessment for isocitrate dehydrogenases 1 and 2 (IDH1/2), α-thalassemia/mental-retardation-syndrome-X-linked gene (ATRX), p53, BRAF, telomere reverse transcriptase promoter (TERT-p), H3F3A, and integrase interactor 1 (INI1) were performed. eGBM tended to lack the degenerative changes characteristic for PXA. 29532523 2018
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.050 GeneticVariation disease BEFREE Both components were positive for the mutant IDH1 R132H and showed loss of ATRX expression, whereas BRAF V600E was restricted to the PXA-like component. 26414224 2016
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.050 GeneticVariation disease BEFREE IDH1 R132 and IDH R172 mutations were not present in any of the PXA and gcGBM cases. 27253461 2016