Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 MUTATION
CDH1 MUTATION - Associated Disease
- hereditary diffuse gastric cancer
- Source Database
- DisGeNET
- Description
- Both results (functional and clinical) support the conclusion that the CDH1 c.48 G>C (Q16H) variant contributes to HDGC through the generation of a pathogenic missense mutation with loss of anti-invasive function.
- Pubmed
- 25771876
- 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
- 7
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.388501396568432
Drugs