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

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
0.020 GeneticVariation group BEFREE Evaluation of IDH mutation status may be a useful diagnostic tool for bone tumors of the skull base, which are most often assessable with only small biopsy samples. 30296521 2019
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
0.020 GeneticVariation group BEFREE Chondrosarcoma is a malignant cartilage-forming bone tumour in which mutations in IDH1 and IDH2 frequently occur. 29576625 2018