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

N. diseases: 399; N. variants: 10
Disease: Ganglioglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE In the present study we searched for FGFR1-ITD by droplet digital PCR (DDPCR™) and for FGFR1 point mutations by HRM-sequencing in a series of formalin-fixed paraffin-embedded (FFPE) LGNTs including 12 DNT, 2 oligodendrogliomas lacking IDH mutation and 1p/19q co- deletion (pediatric-type oligodendrogliomas; PTOs), 3 pediatric diffuse astrocytomas (PDAs), 14 gangliogliomas (GGs) and 5 pilocytic astrocytomas (PAs). 27791984 2017
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE It is recognized that IDH mutation negative, low-grade epilepsy associated tumors (LEAT) can show diffuse growth patterns and lack the diagnostic hallmarks of either classical dysembryoplastic neuroepithelial tumors (DNT) or typical ganglioglioma. 29040640 2017
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE We examined 170 (0-18 years) pediatric and 131 (19-35 years) young adult brain tumors including pilocytic astrocytomas (PAs), pilomyxoid astrocytomas (PMAs), diffuse astrocytomas (DAs), gangliogliomas, dysembryoplastic neuroepithelial tumors (DNTs) and pleomorphic xanthoastrocytomas (PXAs) for IDH1 and BRAF mutation/BRAF fusion gene status. 26115961 2016
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE Their tumors showed distinctive features of ganglioglioma with low Ki-67 index (2%-4%), positive for the BRAF<sup>V600E</sup> mutation, but negative for IDH1/2 mutations. 27452969 2016
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE Furthermore, the age of patients with IDH1-mutant gangliogliomas was higher than those without mutations (25.5 vs. 46.1 years, P=0.0033). 21314850 2011
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.060 GeneticVariation disease BEFREE IDH1 or IDH2 mutations were frequently in oligodendrogliomas (67%), anaplastic astrocytomas (62%), anaplastic oligoastrocytomas (75%), anaplastic oligodendrogliomas (50%), secondary glioblastomas (67%), gangliogliomas (38%), and anaplastic gangliogliomas (60%). 19765000 2009