Annotation Detail
Information
- Associated Genes
- NOTCH2
- Associated Variants
-
NOTCH2 MUTATION
NOTCH2 MUTATION - Associated Disease
- Hajdu-Cheney syndrome
- Source Database
- DisGeNET
- Description
- In conclusion, Notch regulates skeletal development and bone remodeling, and gain-of-function mutations of NOTCH2 are associated with HCS.
- Pubmed
- 25491639
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.362985860592883
Drugs