Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.340 Biomarker disease BEFREE None of the known pathogenic mutations in the whole IDH1 or IDH2 genes was found in the patient's hemangioma sample. 26123062 2017
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.340 GeneticVariation disease BEFREE Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. 28544751 2017
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.340 GeneticVariation disease BEFREE Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. 26508204 2016
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.340 Biomarker disease CTD_human We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2012
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.340 GeneticVariation disease BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2012