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

N. diseases: 399; N. variants: 10
Disease: Neoplasms, Vascular Tissue ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		0.020 GeneticVariation group BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		0.020 GeneticVariation group BEFREE The levels of the metabolite 2HG were measured in a series of central cartilaginous and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated strongly with the presence of IDH1 mutations. 22057236 2011