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

N. diseases: 399; N. variants: 10
Disease: Childhood Solid Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.040 GeneticVariation phenotype BEFREE However, an effective therapy against IDH1-mutated solid tumor remains unavailable. 31548295 2020
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.040 GeneticVariation phenotype BEFREE Other than brain tumor or hematologic malignancies, intrahepatic cholangiocarcinoma (iCC) is a well-known solid tumor with IDH1 mutation (6.8-20%). 28403884 2017
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.040 GeneticVariation phenotype BEFREE The role of mutant IDH in controlling hepatic differentiation state suggests the potential of newly developed inhibitors of the mutant enzyme as a form of differentiation therapy in a solid tumor. 25485496 2014
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		0.040 GeneticVariation phenotype BEFREE We identified IDH1 mutations in 10/24 (42%) cases, which also included a solid tumor portion (type 2 GC), but not in 11 "classical" cases without solid tumor mass (type 1 GC). 20514489 2010