Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 MUTATION
IDH1 MUTATION
Associated Disease
Bone neoplasms
Source Database
DisGeNET
Description
These tumors are characterized by frequent gain-of-function mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes-that are also common in subsets of neural, haematopoietic and bone tumors, but rare or absent in the other types of gastrointestinal malignancy.
Pubmed
25485496
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs