IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: Enchondroma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 GeneticVariation disease BEFREE A p.R172S IDH2 mutation was identified in 4 enchondromas, but not in the ependymoma from one patient with Ollier disease, who further displayed a heterozygous STK11 missense mutation. 31240473 2019
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 Biomarker disease CTD_human Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines. 25895133 2015
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 GeneticVariation disease BEFREE Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. 26508204 2015
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 GeneticVariation disease BEFREE Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. 25730874 2015
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 Biomarker disease CTD_human We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
CUI: C1704356
Disease: Enchondroma
Enchondroma 		0.340 GeneticVariation disease BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011