rs121913500, IDH1

N. diseases: 96
Disease: Childhood Pleomorphic Xanthoastrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Pleomorphic Xanthoastrocytoma
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation BEFREE Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma Grade III Sharing IDH1 R132H Mutation. 29859360 2018
Childhood Pleomorphic Xanthoastrocytoma
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
0.020 GeneticVariation 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