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

N. diseases: 380; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. 27036230 2016
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 Biomarker 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 GeneticVariation disease BEFREE This is the first report of the detection of an identical IDH2 mutation in multiple tissues and TP53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. 24344754 2014
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 SomaticCausalMutation disease ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 Biomarker disease GENOMICS_ENGLAND In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 Biomarker disease CTD_human In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 GeneticVariation disease BEFREE In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 SomaticCausalMutation disease ORPHANET In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
0.650 Biomarker disease CTD_human Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011