Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- cholangiocarcinoma
- Source Database
- DisGeNET
- Description
- Recent whole-exome and targeted sequencing not only confirmed frequent mutations in known CCA-related genes including TP53 (44%), KRAS (16.7%) and SMAD4 (16.7%), but also revealed mutations in novel CCA-related genes associated with chromatin remodeling [BAP1 (2.8%), ARID1A (17.6%), MLL3 (13%) and IDH1/2 (2.8%)], WNT signaling [RNF43 (9.3%) and PEG3 (5.6%)] and KRAS/G protein signaling [GNAS (9.3%) and ROBO2 (9.3%)].
- Pubmed
- 25693006
- Section of the abstract supporting the evidence
- RECENT FINDINGS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.122171534976642
Drugs