Annotation Detail
Information
- Associated Genes
- CCND1
- Associated Variants
-
CCND1 MUTATION
CCND1 MUTATION - Associated Disease
- Keratocystic Odontogenic Tumor
- Source Database
- DisGeNET
- Description
- Overexpression of upstream (PTCH1 and SMO) and downstream (GLI1, CCND1 and BCL2) genes in the SHH pathway leads to the constitutive activation of this pathway in KOT and AB and may suggest a mechanism for the development of these types of tumors.
- Pubmed
- 24930892
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs