Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- cholangiocarcinoma
- Source Database
- DisGeNET
- Description
- Exome and the following prevalence sequencing identified mutations of the BAP1, ARID1A, IDH1 and IDH2 genes in CCA, in addition to the high incidence of known mutations in the TP53, KRAS2 SMAD4, and CDKN2A genes, suggesting the role of chromatin modulators in CCA pathogenesis.
- Pubmed
- 24532422
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.122171534976642
Drugs