Annotation Detail
Information
- Associated Genes
- NOTCH2
- Associated Variants
-
NOTCH2 MUTATION
NOTCH2 MUTATION - Associated Disease
- Hajdu-Cheney syndrome
- Source Database
- DisGeNET
- Description
- A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.
- Pubmed
- 25696021
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.362985860592883
Drugs