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

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.040 GeneticVariation disease BEFREE Finally, we report the existence of additional rare, but recurring mutations found in lymphoma and thyroid cancer, which while failing to elevate 2HG nonetheless displayed loss of function, indicating a possible tumorigenic mechanism for a non-2HG-producing subset of IDH mutations in some malignancies. 21996744 2012
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.040 Biomarker disease BEFREE Expression of most NADPH-producing dehydrogenase genes was not elevated in 34 cancer data sets except for IDH1 in glioma and thyroid cancer, indicating an association with the IDH1 mutation. 21527585 2011
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.040 GeneticVariation disease BEFREE Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer. 20171178 2010
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.040 GeneticVariation disease BEFREE Exons 4 and 6 of IDH1 were sequenced in a large panel of thyroid tumours (n=138) and compared with the patients normal DNA (n=26). 20702649 2010