Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
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