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

N. diseases: 380; N. variants: 15
Disease: Dedifferentiated chondrosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0862878
Disease: Dedifferentiated chondrosarcoma
Dedifferentiated chondrosarcoma 		0.020 GeneticVariation disease BEFREE Similar to other IDH-mutated tumor types, IDH-mutated DDCHS also show elevated 2HG level, indicating that the oncometabolite activity of 2HG may contribute to DDCHS oncogenesis and progression. 31609487 2019
CUI: C0862878
Disease: Dedifferentiated chondrosarcoma
Dedifferentiated chondrosarcoma 		0.020 GeneticVariation disease BEFREE Identification of IDH1 or IDH2 mutations supports the diagnosis of dedifferentiated chondrosarcoma rather than UPS of bone while also providing some insight into the pathogenesis of these 2 lesions. 28552826 2017