Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 GeneticVariation disease BEFREE IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. 31240473 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease BEFREE Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. 30159860 2018
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 GeneticVariation disease BEFREE IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. 29339836 2018
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease BEFREE Mutant IDH is sufficient to initiate enchondromatosis in mice. 25730874 2015
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. 26046462 2015
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 GeneticVariation disease BEFREE Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively. 23801749 2013
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease CTD_human Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 SomaticCausalMutation disease ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.790 Biomarker disease HPO