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

N. diseases: 399; N. variants: 10
Disease: Sweet Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		0.020 GeneticVariation disease BEFREE Here, we describe a case of a HSS that led to the diagnosis of MDS with an isocitrate dehydrogenase 1 (IDH-1) mutation and a corresponding study looking for additional cases of IDH-1 mutations in biopsies of histiocytoid and conventional Sweet syndrome. 30632174 2019
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		0.020 GeneticVariation disease BEFREE These cases demonstrate that IDH1 mutation may be implicated in the pathogenesis of malignancy-associated SS. 29599340 2018