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

N. diseases: 399; N. variants: 10
Disease: Dyschondroplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		0.300 SomaticCausalMutation group ORPHANET Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 22057234 2011
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		0.300 SomaticCausalMutation group ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011